Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter Unknown 0 broad.mit.edu 37 1 1854051 1854051 + Missense_Mutation SNP A T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:1854051A>T uc001aik.2 - 10 1643 c.793T>A c.(793-795)TGG>AGG p.W265R uc001ail.2_Missense_Mutation_p.W265R RecName: Full=Uncharacterized protein C1orf222; GGTGGCACCCAGGAGATGCTG 0.637 15 59 --- --- --- --- PASS CHD5 26038 broad.mit.edu 37 1 6169932 6169932 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:6169932C>T uc001amb.1 - 38 5601 c.5501G>A c.(5500-5502)TGC>TAC p.C1834Y CHD5_uc001alz.1_Missense_Mutation_p.C691Y|CHD5_uc001ama.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1834 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CTCGGCGAGGCACTCCACTTC 0.657 10 118 --- --- --- --- PASS VPS13D 55187 broad.mit.edu 37 1 12309329 12309329 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:12309329C>T uc001atv.2 + 6 638 c.497C>T c.(496-498)CCC>CTC p.P166L VPS13D_uc001atw.2_Missense_Mutation_p.P166L NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 166 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GTCACCAATCCCTCCCATCCT 0.403 26 87 --- --- --- --- PASS SPEN 23013 broad.mit.edu 37 1 16257530 16257530 + Missense_Mutation SNP G C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:16257530G>C uc001axk.1 + 11 4999 c.4795G>C c.(4795-4797)GAA>CAA p.E1599Q SPEN_uc010obp.1_Missense_Mutation_p.E1558Q NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 1599 Potential. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GAAAGAAAAAGAAAAAGACCA 0.418 8 153 --- --- --- --- PASS C1orf89 79363 broad.mit.edu 37 1 16559053 16559053 + Missense_Mutation SNP C T T rs142028968 byFrequency TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:16559053C>T uc001ayd.2 - 4 901 c.479G>A c.(478-480)CGC>CAC p.R160H NM_030907 NP_112169 Q9BU20 RSG1_HUMAN hypothetical protein LOC79363 160 Small GTPase-like. cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction cilium|microtubule basal body GTP binding p.R160H(1) 0 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.2e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649) ACCTGCTATGCGGGCCAGCTG 0.587 4 127 --- --- --- --- PASS ZNF436 80818 broad.mit.edu 37 1 23689210 23689210 + Missense_Mutation SNP T A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:23689210T>A uc001bgt.2 - 3 1046 c.665A>T c.(664-666)CAC>CTC p.H222L ZNF436_uc001bgu.2_Missense_Mutation_p.H222L NM_030634 NP_085137 Q9C0F3 ZN436_HUMAN zinc finger protein 436 222 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) ATTACATTTGTGAGGCTTCTC 0.468 54 199 --- --- --- --- PASS CSF3R 1441 broad.mit.edu 37 1 36941154 36941154 + Missense_Mutation SNP A T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:36941154A>T uc001caw.1 - 4 363 c.185T>A c.(184-186)CTG>CAG p.L62Q CSF3R_uc001cav.1_Missense_Mutation_p.L62Q|CSF3R_uc001cax.1_Missense_Mutation_p.L62Q|CSF3R_uc001cay.1_Missense_Mutation_p.L62Q NM_000760 NP_000751 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor isoform a 62 Ig-like C2-type.|Extracellular (Potential). cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|ovary(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) CAGTCTCCACAGAATCTGTGG 0.602 17 104 --- --- --- --- PASS GPX7 2882 broad.mit.edu 37 1 53073986 53073986 + Silent SNP A T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:53073986A>T uc001cue.2 + 3 492 c.453A>T c.(451-453)CCA>CCT p.P151P NM_015696 NP_056511 Q96SL4 GPX7_HUMAN glutathione peroxidase 7 precursor 151 response to oxidative stress extracellular region glutathione peroxidase activity 0 Glutathione(DB00143) TAGTAGCCCCAGATGGAAAGG 0.557 50 113 --- --- --- --- PASS C8A 731 broad.mit.edu 37 1 57349309 57349309 + Silent SNP A T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:57349309A>T uc001cyo.2 + 6 942 c.810A>T c.(808-810)TCA>TCT p.S270S NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 270 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 TATCCCACTCACAAGACACTT 0.408 28 85 --- --- --- --- PASS DNAJC6 9829 broad.mit.edu 37 1 65858250 65858250 + Silent SNP C G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:65858250C>G uc001dcd.1 + 12 1598 c.1434C>G c.(1432-1434)GTC>GTG p.V478V DNAJC6_uc001dcc.1_Silent_p.V509V|DNAJC6_uc010opc.1_Silent_p.V465V|DNAJC6_uc001dce.1_Silent_p.V535V NM_014787 NP_055602 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 478 Pro-rich. 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 CTCATGGAGTCAAGAAGCCCA 0.532 17 69 --- --- --- --- PASS IFI44L 10964 broad.mit.edu 37 1 79102885 79102885 + Missense_Mutation SNP T A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:79102885T>A uc010oro.1 + 6 1224 c.1045T>A c.(1045-1047)TGT>AGT p.C349S IFI44L_uc010orp.1_Missense_Mutation_p.C86S|IFI44L_uc010orq.1_Missense_Mutation_p.C86S NM_006820 NP_006811 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 349 cytoplasm 0 AGTATTAAACTGTGGTGAGTC 0.224 21 65 --- --- --- --- PASS IFI44 10561 broad.mit.edu 37 1 79120789 79120789 + Silent SNP T C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:79120789T>C uc001dip.3 + 4 709 c.585T>C c.(583-585)ATT>ATC p.I195I IFI44_uc010orr.1_Silent_p.I195I|IFI44_uc010ors.1_5'UTR NM_006417 NP_006408 Q8TCB0 IFI44_HUMAN interferon-induced, hepatitis C-associated 195 response to virus cytoplasm ovary(1)|central_nervous_system(1) 2 TGGGTCCAATTGGAGCTGGGA 0.468 28 218 --- --- --- --- PASS ELTD1 64123 broad.mit.edu 37 1 79392575 79392575 + Missense_Mutation SNP C G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:79392575C>G uc001diq.3 - 8 1235 c.1079G>C c.(1078-1080)CGA>CCA p.R360P NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 360 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GCTTACCTTTCGATGACTTAA 0.353 28 62 --- --- --- --- PASS SYDE2 84144 broad.mit.edu 37 1 85624609 85624609 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:85624609C>T uc009wcm.2 - 7 3458 c.3409G>A c.(3409-3411)GAA>AAA p.E1137K NM_032184 NP_115560 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 1137 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|central_nervous_system(1) 2 all cancers(265;0.0126)|Epithelial(280;0.0336) ATTGGCTGTTCAATCATTACT 0.348 23 57 --- --- --- --- PASS BCAR3 8412 broad.mit.edu 37 1 94047862 94047862 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:94047862C>T uc001dpz.2 - 7 1957 c.1682G>A c.(1681-1683)TGC>TAC p.C561Y BCAR3_uc001dqa.2_Missense_Mutation_p.C561Y|BCAR3_uc001dqb.2_Missense_Mutation_p.C561Y|BCAR3_uc001dpx.3_Missense_Mutation_p.C237Y|BCAR3_uc001dpy.2_Missense_Mutation_p.C470Y|BCAR3_uc009wdm.1_Missense_Mutation_p.C237Y NM_003567 NP_003558 O75815 BCAR3_HUMAN breast cancer antiestrogen resistance 3 561 Ras-GEF. response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) GCTTACCCTGCAGTCCATGCT 0.537 32 194 --- --- --- --- PASS TRIM33 51592 broad.mit.edu 37 1 114969855 114969855 + Missense_Mutation SNP C G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:114969855C>G uc001eew.2 - 8 1448 c.1364G>C c.(1363-1365)GGA>GCA p.G455A TRIM33_uc010owr.1_Missense_Mutation_p.G63A|TRIM33_uc010ows.1_Missense_Mutation_p.G63A|TRIM33_uc001eex.2_Missense_Mutation_p.G455A NM_015906 NP_056990 Q9UPN9 TRI33_HUMAN tripartite motif-containing 33 protein isoform 455 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 11 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ACGTATTGCTCCATTAGCAGC 0.363 T RET papillary thyroid 28 213 --- --- --- --- PASS AMPD1 270 broad.mit.edu 37 1 115229390 115229390 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:115229390C>A uc001efe.1 - 4 441 c.357G>T c.(355-357)CAG>CAT p.Q119H AMPD1_uc001eff.1_Missense_Mutation_p.Q115H NM_000036 NP_000027 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 (isoform M) 119 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|large_intestine(1)|skin(1) 4 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) CACCAGTAATCTGCACTCTCT 0.473 34 137 --- --- --- --- PASS SYCP1 6847 broad.mit.edu 37 1 115399274 115399274 + Silent SNP T C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:115399274T>C uc001efr.2 + 3 398 c.189T>C c.(187-189)GAT>GAC p.D63D SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Silent_p.D63D|SYCP1_uc009wgw.2_Silent_p.D63D NM_003176 NP_003167 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 63 Asp/Glu-rich (acidic). cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAAACATTGATTCAGGTAGGA 0.318 20 65 --- --- --- --- PASS CD101 9398 broad.mit.edu 37 1 117559882 117559882 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:117559882G>T uc010oxb.1 + 5 1457 c.1399G>T c.(1399-1401)GGC>TGC p.G467C CD101_uc009whd.2_Missense_Mutation_p.G467C|CD101_uc010oxc.1_Missense_Mutation_p.G467C|CD101_uc010oxd.1_Missense_Mutation_p.G405C NM_004258 NP_004249 Q93033 IGSF2_HUMAN immunoglobulin superfamily, member 2 precursor 467 Extracellular (Potential).|Ig-like C2-type 4. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GGGGCAGGATGGCATTGTGCA 0.587 19 91 --- --- --- --- PASS GJA8 2703 broad.mit.edu 37 1 147380457 147380457 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:147380457C>A uc001epu.1 + 2 438 c.375C>A c.(373-375)GAC>GAA p.D125E NM_005267 NP_005258 P48165 CXA8_HUMAN connexin 50 125 Cytoplasmic (Potential). cell communication|visual perception connexon complex|integral to plasma membrane channel activity ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.0276) GCGGCCCGGACCAGGGCAGCG 0.642 26 52 --- --- --- --- PASS GJA8 2703 broad.mit.edu 37 1 147380458 147380458 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:147380458C>A uc001epu.1 + 2 439 c.376C>A c.(376-378)CAG>AAG p.Q126K NM_005267 NP_005258 P48165 CXA8_HUMAN connexin 50 126 Cytoplasmic (Potential). cell communication|visual perception connexon complex|integral to plasma membrane channel activity ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.0276) CGGCCCGGACCAGGGCAGCGT 0.647 27 55 --- --- --- --- PASS VPS45 11311 broad.mit.edu 37 1 150048324 150048324 + Silent SNP G C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:150048324G>C uc001etp.2 + 4 876 c.303G>C c.(301-303)GTG>GTC p.V101V VPS45_uc010pbp.1_RNA|VPS45_uc010pbq.1_Silent_p.V65V|VPS45_uc010pbs.1_Silent_p.V65V|VPS45_uc001etq.2_5'Flank|VPS45_uc009wlm.1_Silent_p.V101V|VPS45_uc010pbr.1_Silent_p.V65V NM_007259 NP_009190 Q9NRW7 VPS45_HUMAN vacuolar protein sorting 45A 101 blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis endosome membrane|Golgi membrane|integral to membrane of membrane fraction central_nervous_system(1)|skin(1) 2 Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) TCAGTAATGTGATCAGCAAGA 0.408 37 177 --- --- --- --- PASS RPTN 126638 broad.mit.edu 37 1 152128744 152128744 + Silent SNP T A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:152128744T>A uc001ezs.1 - 3 896 c.831A>T c.(829-831)CTA>CTT p.L277L NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 277 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 ATTCCTGACCTAGCCTCTCAG 0.458 126 431 --- --- --- --- PASS LCE3E 353145 broad.mit.edu 37 1 152538465 152538465 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:152538465C>T uc001faa.2 - 2 276 c.220G>A c.(220-222)GGC>AGC p.G74S NM_178435 NP_848522 Q5T5B0 LCE3E_HUMAN late cornified envelope 3E 74 keratinization ovary(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153) TGACCACTGCCCCTGTCACAG 0.652 43 171 --- --- --- --- PASS ATP8B2 57198 broad.mit.edu 37 1 154316369 154316369 + Nonsense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:154316369G>T uc001fex.2 + 18 1858 c.1858G>T c.(1858-1860)GAG>TAG p.E620* NM_020452 NP_065185 P98198 AT8B2_HUMAN ATPase, class I, type 8B, member 2 isoform a 606 Cytoplasmic (Potential). ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(1)|skin(1) 2 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CTGCCTCCAGGAGTACGCAGG 0.393 39 85 --- --- --- --- PASS CLK2 1196 broad.mit.edu 37 1 155240753 155240753 + Missense_Mutation SNP T A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:155240753T>A uc001fjy.2 - 2 306 c.16A>T c.(16-18)AGG>TGG p.R6W RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Missense_Mutation_p.R6W|CLK2_uc001fjx.2_Translation_Start_Site|CLK2_uc009wqm.2_Missense_Mutation_p.R6W NM_003993 NP_003984 P49760 CLK2_HUMAN CDC-like kinase 2 6 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GAGTGGTACCTTCGAGGATGC 0.527 Other_conserved_DNA_damage_response_genes 39 123 --- --- --- --- PASS PEAR1 375033 broad.mit.edu 37 1 156877949 156877949 + Missense_Mutation SNP T A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:156877949T>A uc001fqj.1 + 9 1048 c.932T>A c.(931-933)TTT>TAT p.F311Y PEAR1_uc009wsl.1_Missense_Mutation_p.F112Y|PEAR1_uc001fqk.1_Translation_Start_Site NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 311 EGF-like 4. integral to membrane ovary(2)|central_nervous_system(1) 3 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GTGGGCCGCTTTGGGCAGGAC 0.726 4 26 --- --- --- --- PASS FCRL3 115352 broad.mit.edu 37 1 157667071 157667071 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:157667071G>T uc001frb.2 - 6 995 c.703C>A c.(703-705)CTC>ATC p.L235I FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.L235I|FCRL3_uc009wsn.2_Intron|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Missense_Mutation_p.L235I NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 235 Ig-like C2-type 3.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) CCCAATCCGAGGGTCTGGCTA 0.577 49 215 --- --- --- --- PASS FCRL1 115350 broad.mit.edu 37 1 157773749 157773749 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:157773749G>T uc001frg.2 - 3 318 c.205C>A c.(205-207)CCC>ACC p.P69T FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.P69T|FCRL1_uc001fri.2_Missense_Mutation_p.P69T|FCRL1_uc001frj.2_RNA NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 69 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TGGAGCTTGGGGGAGCTGCTC 0.562 51 208 --- --- --- --- PASS CD5L 922 broad.mit.edu 37 1 157804345 157804345 + Silent SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:157804345G>A uc001frk.3 - 4 713 c.570C>T c.(568-570)CGC>CGT p.R190R NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 190 SRCR 2. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GCTTGTTGCAGCGTTTTTGAG 0.592 39 132 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158647593 158647593 + Nonsense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:158647593C>A uc001fst.1 - 7 1043 c.844G>T c.(844-846)GAG>TAG p.E282* NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 282 Spectrin 4. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GGTTCCTTCTCCTTGATCCAC 0.473 19 100 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158647594 158647594 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:158647594C>A uc001fst.1 - 7 1042 c.843G>T c.(841-843)AAG>AAT p.K281N NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 281 Spectrin 4. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GTTCCTTCTCCTTGATCCACT 0.478 18 100 --- --- --- --- PASS F5 2153 broad.mit.edu 37 1 169541508 169541508 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:169541508C>A uc001ggg.1 - 3 469 c.324G>T c.(322-324)AAG>AAT p.K108N F5_uc010plr.1_RNA NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 108 F5/8 type A 1.|Plastocyanin-like 1. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TGCTCAAGGGCTTATCTGCCT 0.323 23 75 --- --- --- --- PASS SELP 6403 broad.mit.edu 37 1 169581473 169581473 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:169581473G>T uc001ggi.3 - 6 1008 c.943C>A c.(943-945)CCA>ACA p.P315T SELP_uc001ggh.2_Missense_Mutation_p.P150T|SELP_uc009wvr.2_Missense_Mutation_p.P315T NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 315 Extracellular (Potential).|Sushi 2. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) ACTGGGGCTGGGGCTGTCCAT 0.488 46 189 --- --- --- --- PASS TNN 63923 broad.mit.edu 37 1 175097181 175097181 + Missense_Mutation SNP G C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:175097181G>C uc001gkl.1 + 14 3172 c.3059G>C c.(3058-3060)GGA>GCA p.G1020A NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 1020 Fibronectin type-III 9. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) ATGCAGCTGGGACGGGAAGAC 0.547 30 147 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175328799 175328799 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:175328799C>T uc001gkp.1 - 13 3004 c.2923G>A c.(2923-2925)GCA>ACA p.A975T TNR_uc009wwu.1_Missense_Mutation_p.A975T NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 975 Fibronectin type-III 8. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) CCCACTGGTGCCTTCCACTGC 0.493 43 130 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175331844 175331844 + Missense_Mutation SNP G A A rs150401432 TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:175331844G>A uc001gkp.1 - 12 2890 c.2809C>T c.(2809-2811)CGG>TGG p.R937W TNR_uc009wwu.1_Missense_Mutation_p.R937W NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 937 Fibronectin type-III 7. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) TCCCTGCCCCGCACGCTGTTG 0.552 50 118 --- --- --- --- PASS NCF2 4688 broad.mit.edu 37 1 183543663 183543663 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:183543663G>T uc001gqj.3 - 4 735 c.460C>A c.(460-462)CCC>ACC p.P154T NCF2_uc010pod.1_Intron|NCF2_uc010poe.1_Intron|NCF2_uc001gqk.3_Missense_Mutation_p.P154T NM_000433 NP_000424 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 154 TPR 3. cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding ovary(3) 3 GAATGTCTGGGCTCAGACTTC 0.443 134 363 --- --- --- --- PASS PRG4 10216 broad.mit.edu 37 1 186276748 186276748 + Missense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:186276748G>A uc001gru.3 + 7 1948 c.1897G>A c.(1897-1899)GCA>ACA p.A633T PRG4_uc001grt.3_Missense_Mutation_p.A592T|PRG4_uc009wyl.2_Missense_Mutation_p.A540T|PRG4_uc009wym.2_Missense_Mutation_p.A499T|PRG4_uc010poo.1_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 633 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CGAGAAGCTCGCACCCACCAC 0.687 8 23 --- --- --- --- PASS CR1 1378 broad.mit.edu 37 1 207787753 207787753 + Nonsense_Mutation SNP C T T rs55749440 TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:207787753C>T uc001hfy.2 + 32 5370 c.5230C>T c.(5230-5232)CGA>TGA p.R1744* CR1_uc001hfx.2_Nonsense_Mutation_p.R2194* NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 1744 Extracellular (Potential).|Sushi 27. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 CTTTAGGTTCCGATTAAAAGG 0.423 4 85 --- --- --- --- PASS SYT14 255928 broad.mit.edu 37 1 210273672 210273672 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:210273672C>T uc009xcv.2 + 6 1102 c.1030C>T c.(1030-1032)CGG>TGG p.R344W SYT14_uc001hhs.3_Missense_Mutation_p.R389W|SYT14_uc001hht.3_Missense_Mutation_p.R344W|SYT14_uc001hhu.3_Intron|SYT14_uc010psn.1_Missense_Mutation_p.R389W|SYT14_uc010pso.1_Missense_Mutation_p.R306W NM_153262 NP_694994 Q8NB59 SYT14_HUMAN synaptotagmin XIV isoform 4 344 Cytoplasmic (Potential).|C2 1. integral to membrane ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.085) TTATGCAGTTCGGTTTAGACT 0.348 40 144 --- --- --- --- PASS KCNH1 3756 broad.mit.edu 37 1 210948737 210948737 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:210948737G>T uc001hib.2 - 10 2235 c.2065C>A c.(2065-2067)CAT>AAT p.H689N KCNH1_uc001hic.2_Missense_Mutation_p.H662N NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 689 Cytoplasmic (Potential).|cNMP.|Calmodulin-binding. myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) GAGAAGGAATGGGAGAAGGCC 0.483 28 91 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215853703 215853703 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:215853703C>A uc001hku.1 - 62 12469 c.12082G>T c.(12082-12084)GCC>TCC p.A4028S NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4028 Fibronectin type-III 25.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TACAGGTGGGCTTGATGGCTT 0.398 HNSCC(13;0.011) 53 178 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216017726 216017726 + Nonsense_Mutation SNP A C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:216017726A>C uc001hku.1 - 46 9555 c.9168T>G c.(9166-9168)TAT>TAG p.Y3056* NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3056 Fibronectin type-III 17.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TATTATTTACATAGATAGAAT 0.418 HNSCC(13;0.011) 39 108 --- --- --- --- PASS MARK1 4139 broad.mit.edu 37 1 220792066 220792066 + Missense_Mutation SNP T C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:220792066T>C uc001hmn.3 + 9 1475 c.878T>C c.(877-879)GTC>GCC p.V293A MARK1_uc009xdw.2_Missense_Mutation_p.V293A|MARK1_uc010pun.1_Missense_Mutation_p.V293A|MARK1_uc001hmm.3_Missense_Mutation_p.V271A NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 293 Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1) 10 GBM - Glioblastoma multiforme(131;0.0407) AAATTATTAGTCCTGAATCCA 0.338 35 96 --- --- --- --- PASS LIN9 286826 broad.mit.edu 37 1 226496871 226496871 + Missense_Mutation SNP C G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:226496871C>G uc001hqa.2 - 1 328 c.18G>C c.(16-18)CAG>CAC p.Q6H LIN9_uc001hqb.2_Missense_Mutation_p.Q6H|LIN9_uc001hqc.2_Intron|LIN9_uc009xel.1_Missense_Mutation_p.Q6H NM_173083 NP_775106 Q5TKA1 LIN9_HUMAN lin-9 homolog Error:Variant_position_missing_in_Q5TKA1_after_alignment cell cycle|DNA replication nucleoplasm 0 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) TTTTCAAAGGCTGCCCGCCGC 0.522 19 49 --- --- --- --- PASS ACTN2 88 broad.mit.edu 37 1 236894586 236894586 + Silent SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:236894586G>T uc001hyf.2 + 7 873 c.669G>T c.(667-669)CTG>CTT p.L223L ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Silent_p.L223L|ACTN2_uc010pxu.1_Silent_p.L8L NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 223 CH 2.|Actin-binding. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) AGAAGCACCTGGATATTCCTA 0.368 49 164 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240497454 240497454 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:240497454G>T uc010pyd.1 + 13 4915 c.4690G>T c.(4690-4692)GAC>TAC p.D1564Y FMN2_uc010pye.1_Missense_Mutation_p.D1568Y|FMN2_uc010pyf.1_Missense_Mutation_p.D210Y|FMN2_uc010pyg.1_Missense_Mutation_p.D160Y NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1564 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AGAACCCCAGGACCTTTTTCA 0.353 116 381 --- --- --- --- PASS TRIM58 25893 broad.mit.edu 37 1 248039387 248039387 + Missense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr1:248039387G>A uc001ido.2 + 6 1105 c.1057G>A c.(1057-1059)GGA>AGA p.G353R OR2W3_uc001idp.1_Intron NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 353 B30.2/SPRY. intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGTTCTGGTGGGAGAAGGAGC 0.572 36 123 --- --- --- --- PASS RNF144A 9781 broad.mit.edu 37 2 7164553 7164553 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:7164553G>T uc002qys.2 + 7 1005 c.563G>T c.(562-564)TGC>TTC p.C188F RNF144A_uc002qyt.2_Missense_Mutation_p.C37F NM_014746 NP_055561 P50876 R144A_HUMAN ring finger protein 144 188 RING-type 2; degenerate. Golgi apparatus|integral to membrane ligase activity|zinc ion binding ovary(1)|kidney(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) TGCCCCAAGTGCAAAGTCTAC 0.567 33 129 --- --- --- --- PASS SLC5A6 8884 broad.mit.edu 37 2 27426649 27426649 + Silent SNP G C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:27426649G>C uc002rjd.2 - 10 1483 c.1092C>G c.(1090-1092)CTC>CTG p.L364L SLC5A6_uc010eyv.1_Silent_p.L364L NM_021095 NP_066918 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium-dependent 364 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) GTGGGTACCTGAGAGAGCCGC 0.577 4 71 --- --- --- --- PASS TRMT61B 55006 broad.mit.edu 37 2 29084171 29084171 + Missense_Mutation SNP C G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:29084171C>G uc002rmm.2 - 3 838 c.806G>C c.(805-807)GGA>GCA p.G269A TRMT61B_uc002rmn.2_Missense_Mutation_p.G269A|TRMT61B_uc010ezk.2_RNA NM_017910 NP_060380 Q9BVS5 TR61B_HUMAN tRNA methyltransferase 61 homolog B 269 tRNA (adenine-N1-)-methyltransferase activity 0 TCCTTGTGATCCAACTTAAGT 0.254 22 80 --- --- --- --- PASS XDH 7498 broad.mit.edu 37 2 31598422 31598422 + Splice_Site SNP T A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:31598422T>A uc002rnv.1 - 15 1507 c.1428_splice c.e15-1 p.K476_splice NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TTCCAGAGCCTGCCAGAGAGC 0.567 18 47 --- --- --- --- PASS ABCG8 64241 broad.mit.edu 37 2 44078926 44078926 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:44078926C>T uc002rtq.2 + 4 616 c.526C>T c.(526-528)CCC>TCC p.P176S ABCG8_uc010yoa.1_Missense_Mutation_p.P176S NM_022437 NP_071882 Q9H221 ABCG8_HUMAN ATP-binding cassette sub-family G member 8 176 ABC transporter.|Cytoplasmic (Potential). cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity skin(3)|ovary(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GATGCGGCTGCCCAGAACCTT 0.612 40 174 --- --- --- --- PASS NRXN1 9378 broad.mit.edu 37 2 50779808 50779808 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:50779808C>T uc010fbq.2 - 9 3273 c.1796G>A c.(1795-1797)GGT>GAT p.G599D NRXN1_uc002rxb.3_Missense_Mutation_p.G231D|NRXN1_uc002rxe.3_Missense_Mutation_p.G559D|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TTTTATAGTACCTGACCCCAT 0.438 55 152 --- --- --- --- PASS SMEK2 57223 broad.mit.edu 37 2 55825555 55825555 + Missense_Mutation SNP C A A rs147118353 TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:55825555C>A uc002rzc.2 - 4 1293 c.918G>T c.(916-918)TTG>TTT p.L306F SMEK2_uc002rzb.2_Missense_Mutation_p.L306F|SMEK2_uc002rzd.2_Missense_Mutation_p.L306F|SMEK2_uc002rza.2_Missense_Mutation_p.L182F NM_001122964 NP_001116436 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 isoform 1 306 microtubule organizing center|nucleus protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TACTTACCTGCAACATGCTGA 0.328 22 72 --- --- --- --- PASS PNO1 56902 broad.mit.edu 37 2 68385526 68385526 + Silent SNP A G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:68385526A>G uc002seh.2 + 2 284 c.222A>G c.(220-222)GAA>GAG p.E74E WDR92_uc002sed.1_5'Flank|WDR92_uc002see.1_5'Flank|WDR92_uc002sef.1_5'Flank|WDR92_uc002seg.1_5'Flank NM_020143 NP_064528 Q9NRX1 PNO1_HUMAN partner of NOB1 74 nucleolus RNA binding 0 GGAAAGAAGAAACAAGGAAAA 0.408 29 216 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80136857 80136857 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:80136857G>T uc010ysh.1 + 6 995 c.990G>T c.(988-990)AGG>AGT p.R330S CTNNA2_uc010yse.1_Missense_Mutation_p.R330S|CTNNA2_uc010ysf.1_Missense_Mutation_p.R330S|CTNNA2_uc010ysg.1_Missense_Mutation_p.R330S NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 330 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 GGCGCGAGAGGATCGTGGCGG 0.627 29 103 --- --- --- --- PASS KCNIP3 30818 broad.mit.edu 37 2 96040934 96040934 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:96040934G>T uc002sup.2 + 5 540 c.425G>T c.(424-426)GGG>GTG p.G142V KCNIP3_uc002suq.2_Missense_Mutation_p.G116V NM_013434 NP_038462 Q9Y2W7 CSEN_HUMAN Kv channel interacting protein 3 isoform 1 142 EF-hand 2. apoptosis|signal transduction|transcription, DNA-dependent endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity breast(2)|ovary(1) 3 READ - Rectum adenocarcinoma(193;0.13) GATGCGGACGGGAACGGGGCC 0.617 30 119 --- --- --- --- PASS IL1R2 7850 broad.mit.edu 37 2 102636172 102636172 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:102636172G>T uc002tbm.2 + 5 815 c.586G>T c.(586-588)GAT>TAT p.D196Y IL1R2_uc002tbn.2_Missense_Mutation_p.D196Y|IL1R2_uc002tbo.1_Missense_Mutation_p.D196Y NM_004633 NP_004624 P27930 IL1R2_HUMAN interleukin 1 receptor, type II precursor 196 Extracellular (Potential).|Ig-like C2-type 2. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity ovary(1)|breast(1) 2 Anakinra(DB00026) ACTCGTACACGATGTGGCCCT 0.428 10 50 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125261909 125261909 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:125261909C>A uc002tno.2 + 8 1464 c.1100C>A c.(1099-1101)CCC>CAC p.P367H CNTNAP5_uc010flu.2_Missense_Mutation_p.P368H NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 367 Laminin G-like 2.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) CAGATTGTGCCCATCACATTT 0.458 13 104 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125261910 125261910 + Silent SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:125261910C>A uc002tno.2 + 8 1465 c.1101C>A c.(1099-1101)CCC>CCA p.P367P CNTNAP5_uc010flu.2_Silent_p.P368P NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 367 Laminin G-like 2.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) AGATTGTGCCCATCACATTTG 0.463 12 105 --- --- --- --- PASS ERCC3 2071 broad.mit.edu 37 2 128030506 128030506 + Nonsense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:128030506C>A uc002toh.1 - 11 1857 c.1762G>T c.(1762-1764)GAA>TAA p.E588* ERCC3_uc002toe.1_Nonsense_Mutation_p.E343*|ERCC3_uc002tof.1_Nonsense_Mutation_p.E524*|ERCC3_uc002tog.1_Nonsense_Mutation_p.E524* NM_000122 NP_000113 P19447 ERCC3_HUMAN excision repair cross-complementing rodent 588 Helicase C-terminal. cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding ovary(2)|lung(2)|breast(2)|kidney(1) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) TGCATCCTTTCCCCCTGAGAC 0.453 Mis|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 18 88 --- --- --- --- PASS LCT 3938 broad.mit.edu 37 2 136566200 136566200 + Silent SNP C A A rs151165674 TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:136566200C>A uc002tuu.1 - 8 3728 c.3717G>T c.(3715-3717)TCG>TCT p.S1239S NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1239 3.|Extracellular (Potential).|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) TGGAAGGCCACGAAGGGTCCT 0.562 31 186 --- --- --- --- PASS MCM6 4175 broad.mit.edu 37 2 136617013 136617013 + Splice_Site SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:136617013C>A uc002tuw.2 - 9 1297 c.1221_splice c.e9-1 p.K407_splice NM_005915 NP_005906 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding 0 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) CTCCACGTGCCTGTTCAAGGT 0.438 10 51 --- --- --- --- PASS CXCR4 7852 broad.mit.edu 37 2 136873423 136873423 + Silent SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:136873423C>T uc002tuz.2 - 2 170 c.75G>A c.(73-75)AAG>AAA p.K25K CXCR4_uc002tuy.2_Silent_p.K29K|CXCR4_uc010fnk.2_Silent_p.K10K NM_003467 NP_003458 P61073 CXCR4_HUMAN chemokine (C-X-C motif) receptor 4 isoform b 25 Extracellular. activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding upper_aerodigestive_tract(1)|large_intestine(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.155) Framycetin(DB00452) AACAGGGTTCCTTCATGGAGT 0.428 34 139 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141643896 141643896 + Nonsense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:141643896C>A uc002tvj.1 - 24 4747 c.3775G>T c.(3775-3777)GAA>TAA p.E1259* LRP1B_uc010fnl.1_Nonsense_Mutation_p.E441* NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1259 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATGAATGCTTCAAAAGGATCT 0.284 TSP Lung(27;0.18) 11 94 --- --- --- --- PASS ZEB2 9839 broad.mit.edu 37 2 145158831 145158831 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:145158831C>A uc002tvu.2 - 7 1331 c.851G>T c.(850-852)TGC>TTC p.C284F ZEB2_uc002tvv.2_Missense_Mutation_p.C278F|ZEB2_uc010zbm.1_Missense_Mutation_p.C255F|ZEB2_uc010fnp.2_Missense_Mutation_p.C192F|ZEB2_uc010fnq.1_Missense_Mutation_p.C313F NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 284 C2H2-type 3. cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) ACACTCTGTGCATTTGAACTT 0.438 90 214 --- --- --- --- PASS SLC4A10 57282 broad.mit.edu 37 2 162834234 162834234 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:162834234C>T uc002ubx.3 + 26 3531 c.3347C>T c.(3346-3348)TCC>TTC p.S1116F SLC4A10_uc002uby.3_Missense_Mutation_p.S1086F|SLC4A10_uc010zcs.1_Missense_Mutation_p.S1097F NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 1116 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 GTCATAAGCTCCCCTTCCTAA 0.323 13 124 --- --- --- --- PASS PPIG 9360 broad.mit.edu 37 2 170465179 170465179 + Splice_Site SNP A G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:170465179A>G uc002uez.2 + 7 510 c.290_splice c.e7-2 p.D97_splice PPIG_uc010fpx.2_Splice_Site_p.D82_splice|PPIG_uc010fpy.2_Splice_Site_p.D93_splice|PPIG_uc002ufa.2_Splice_Site_p.D97_splice|PPIG_uc002ufb.2_Splice_Site_p.D97_splice|PPIG_uc002ufc.1_Splice_Site_p.D97_splice|PPIG_uc002ufd.2_Splice_Site_p.D97_splice NM_004792 NP_004783 Q13427 PPIG_HUMAN peptidylprolyl isomerase G protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|central_nervous_system(1) 3 L-Proline(DB00172) ACTTCTCTATAGACGAGAGTT 0.328 24 53 --- --- --- --- PASS RAPGEF4 11069 broad.mit.edu 37 2 173891408 173891408 + Missense_Mutation SNP T C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:173891408T>C uc002uhv.3 + 24 2549 c.2362T>C c.(2362-2364)TTC>CTC p.F788L RAPGEF4_uc002uhw.3_Missense_Mutation_p.F644L NM_007023 NP_008954 Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 788 Ras-GEF. blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.194) TTGGGAACTCTTCAACTGCGT 0.428 26 156 --- --- --- --- PASS HOXD3 3232 broad.mit.edu 37 2 177033895 177033895 + Missense_Mutation SNP A G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:177033895A>G uc002ukt.1 + 2 229 c.53A>G c.(52-54)CAG>CGG p.Q18R NM_006898 NP_008829 P31249 HXD3_HUMAN homeobox D3 18 anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) TGCACAATGCAGAAGGCTGCT 0.527 21 130 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179414904 179414904 + Missense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:179414904G>A uc010zfg.1 - 286 84181 c.83957C>T c.(83956-83958)CCA>CTA p.P27986L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P21681L|TTN_uc010zfi.1_Missense_Mutation_p.P21614L|TTN_uc010zfj.1_Missense_Mutation_p.P21489L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 28913 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCGAGGCACTGGTCTTCCTTG 0.413 95 223 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179641375 179641375 + Missense_Mutation SNP A T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:179641375A>T uc010zfg.1 - 28 5440 c.5216T>A c.(5215-5217)CTC>CAC p.L1739H TTN_uc010zfh.1_Missense_Mutation_p.L1693H|TTN_uc010zfi.1_Missense_Mutation_p.L1693H|TTN_uc010zfj.1_Missense_Mutation_p.L1693H|TTN_uc002unb.2_Missense_Mutation_p.L1739H|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1739 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCATCATGGAGCCACTCCAC 0.478 8 96 --- --- --- --- PASS ZNF804A 91752 broad.mit.edu 37 2 185800578 185800578 + Missense_Mutation SNP C A A rs147922206 TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:185800578C>A uc002uph.2 + 4 1049 c.455C>A c.(454-456)TCC>TAC p.S152Y NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 152 intracellular zinc ion binding p.S152F(1) ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 AATGAAATTTCCCAACGAGTT 0.368 27 106 --- --- --- --- PASS ZNF804A 91752 broad.mit.edu 37 2 185801937 185801937 + Missense_Mutation SNP A T T rs144621375 TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:185801937A>T uc002uph.2 + 4 2408 c.1814A>T c.(1813-1815)CAT>CTT p.H605L NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 605 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 TTATGTCAGCATCATCATATG 0.328 69 139 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196759835 196759835 + Missense_Mutation SNP G C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:196759835G>C uc002utj.3 - 30 4862 c.4761C>G c.(4759-4761)TTC>TTG p.F1587L NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1587 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TCTCGGAAAAGAATGCAGTCA 0.368 21 80 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196765006 196765006 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:196765006C>A uc002utj.3 - 28 4649 c.4548G>T c.(4546-4548)AAG>AAT p.K1516N NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1516 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TGTTCTCTACCTTCAGATTCC 0.398 42 175 --- --- --- --- PASS PTH2R 5746 broad.mit.edu 37 2 209358071 209358071 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:209358071G>T uc002vdb.2 + 13 1553 c.1340G>T c.(1339-1341)AGA>ATA p.R447I PTH2R_uc010zjb.1_Missense_Mutation_p.R458I|PTH2R_uc010fuo.1_Intron NM_005048 NP_005039 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor precursor 447 Cytoplasmic (Potential). integral to plasma membrane parathyroid hormone receptor activity ovary(1)|breast(1)|skin(1) 3 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) GGCAGCCGCAGATGCGGCTCA 0.592 10 31 --- --- --- --- PASS DES 1674 broad.mit.edu 37 2 220286269 220286269 + Missense_Mutation SNP G C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:220286269G>C uc002vll.2 + 6 1317 c.1231G>C c.(1231-1233)GGA>CGA p.G411R NM_001927 NP_001918 P17661 DESM_HUMAN desmin 411 Rod.|Coil 2B. cytoskeleton organization|muscle filament sliding|regulation of heart contraction cytosol|Z disc protein binding|structural constituent of cytoskeleton central_nervous_system(2) 2 Renal(207;0.0183) Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008) GCTGCTGGAGGGAGAGGAGAG 0.622 9 78 --- --- --- --- PASS IRS1 3667 broad.mit.edu 37 2 227662673 227662673 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:227662673C>A uc002voh.3 - 1 834 c.782G>T c.(781-783)AGT>ATT p.S261I NM_005544 NP_005535 P35568 IRS1_HUMAN insulin receptor substrate 1 261 IRS-type PTB. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1) 12 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) GAACTCATCACTCATGGCCCG 0.642 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 98 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228846552 228846552 + Missense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:228846552G>A uc002vpq.2 - 12 5031 c.4984C>T c.(4984-4986)CAT>TAT p.H1662Y SPHKAP_uc002vpp.2_Missense_Mutation_p.H1633Y|SPHKAP_uc010zlx.1_3'UTR NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1662 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GACTTCCGATGAACCAGCTGC 0.493 14 75 --- --- --- --- PASS SCLY 51540 broad.mit.edu 37 2 238978060 238978060 + Silent SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr2:238978060G>T uc010fyv.2 + 4 490 c.426G>T c.(424-426)TCG>TCT p.S142S SCLY_uc002vxm.3_Silent_p.S109S|SCLY_uc002vxn.2_Silent_p.S142S|SCLY_uc010znq.1_Intron|SCLY_uc010znr.1_Intron NM_016510 NP_057594 Q96I15 SCLY_HUMAN selenocysteine lyase 142 cellular amino acid metabolic process cytosol pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity ovary(2) 2 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285) TTACTTCCTCGGTGGAACACG 0.597 13 47 --- --- --- --- PASS SCN5A 6331 broad.mit.edu 37 3 38674754 38674754 + Missense_Mutation SNP C G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:38674754C>G uc003cio.2 - 2 239 c.45G>C c.(43-45)AGG>AGC p.R15S SCN5A_uc003cin.2_Missense_Mutation_p.R15S|SCN5A_uc003cil.3_Missense_Mutation_p.R15S|SCN5A_uc010hhi.2_Missense_Mutation_p.R15S|SCN5A_uc010hhk.2_Missense_Mutation_p.R15S|SCN5A_uc011ayr.1_Missense_Mutation_p.R15S NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 15 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CCCGTGTGAACCTGCGGAAGC 0.627 15 48 --- --- --- --- PASS SCN10A 6336 broad.mit.edu 37 3 38835283 38835283 + Silent SNP T C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:38835283T>C uc003ciq.2 - 1 219 c.219A>G c.(217-219)GAA>GAG p.E73E NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 73 sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CCCCGATCAGTTCTGCTGGGA 0.552 96 169 --- --- --- --- PASS TTC21A 199223 broad.mit.edu 37 3 39153986 39153986 + Missense_Mutation SNP A T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:39153986A>T uc003cjc.2 + 5 650 c.473A>T c.(472-474)GAC>GTC p.D158V TTC21A_uc003cja.2_Missense_Mutation_p.D158V|TTC21A_uc010hho.1_Intron|TTC21A_uc003cjb.2_Intron|TTC21A_uc003cje.2_Missense_Mutation_p.D158V|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Intron NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A isoform 2 158 TPR 3. binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CTGACCTCAGACAAGCCCCAC 0.522 20 47 --- --- --- --- PASS NBEAL2 23218 broad.mit.edu 37 3 47037075 47037075 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:47037075C>T uc003cqp.2 + 13 2029 c.1850C>T c.(1849-1851)GCA>GTA p.A617V NBEAL2_uc003cqq.1_Missense_Mutation_p.A583V|NBEAL2_uc010hjm.1_Missense_Mutation_p.A178V NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 617 binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) ATGGATACAGCACCTACCCCT 0.637 20 42 --- --- --- --- PASS FLNB 2317 broad.mit.edu 37 3 58090918 58090918 + Silent SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:58090918C>A uc003djj.2 + 11 1887 c.1722C>A c.(1720-1722)TCC>TCA p.S574S FLNB_uc010hne.2_Silent_p.S574S|FLNB_uc003djk.2_Silent_p.S574S|FLNB_uc010hnf.2_Silent_p.S574S|FLNB_uc003djl.2_Silent_p.S405S|FLNB_uc003djm.2_Silent_p.S405S NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 574 Filamin 4. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) TGGTAGAATCCATTGGCTCTG 0.582 8 118 --- --- --- --- PASS FAM19A1 407738 broad.mit.edu 37 3 68587941 68587941 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:68587941G>T uc003dnd.2 + 4 510 c.294G>T c.(292-294)ATG>ATT p.M98I FAM19A1_uc003dne.2_Missense_Mutation_p.M98I|FAM19A1_uc003dng.2_Missense_Mutation_p.M98I NM_213609 NP_998774 Q7Z5A9 F19A1_HUMAN family with sequence similarity 19 (chemokine 98 endoplasmic reticulum|extracellular region ovary(1) 1 Lung NSC(201;0.0117) BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743) GGTGTGAGATGGAGCCTTGCC 0.458 18 67 --- --- --- --- PASS TMF1 7110 broad.mit.edu 37 3 69072406 69072406 + Silent SNP T C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:69072406T>C uc003dnn.2 - 17 3451 c.3204A>G c.(3202-3204)GAA>GAG p.E1068E TMF1_uc011bfx.1_Silent_p.E1071E NM_007114 NP_009045 P82094 TMF1_HUMAN TATA element modulatory factor 1 1068 Potential. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity 0 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) CTAATCGAAGTTCTTCTGCCT 0.299 9 42 --- --- --- --- PASS OR5H6 79295 broad.mit.edu 37 3 97983348 97983348 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:97983348C>T uc003dsi.1 + 1 220 c.220C>T c.(220-222)CCA>TCA p.P74S NM_001005479 NP_001005479 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, 74 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 CCTTCATATCCCAATGTACTT 0.418 75 393 --- --- --- --- PASS HHLA2 11148 broad.mit.edu 37 3 108072579 108072579 + Nonsense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:108072579G>T uc003dwy.3 + 4 537 c.370G>T c.(370-372)GGA>TGA p.G124* HHLA2_uc011bhl.1_Nonsense_Mutation_p.G60*|HHLA2_uc010hpu.2_Nonsense_Mutation_p.G124*|HHLA2_uc003dwz.2_Nonsense_Mutation_p.G124* NM_007072 NP_009003 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 precursor 124 Ig-like V-type 1. integral to membrane ovary(1) 1 CTGCTATGTAGGAACAGCAAT 0.393 5 49 --- --- --- --- PASS HHLA2 11148 broad.mit.edu 37 3 108072580 108072580 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:108072580G>T uc003dwy.3 + 4 538 c.371G>T c.(370-372)GGA>GTA p.G124V HHLA2_uc011bhl.1_Missense_Mutation_p.G60V|HHLA2_uc010hpu.2_Missense_Mutation_p.G124V|HHLA2_uc003dwz.2_Missense_Mutation_p.G124V NM_007072 NP_009003 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 precursor 124 Ig-like V-type 1. integral to membrane ovary(1) 1 TGCTATGTAGGAACAGCAATT 0.388 5 48 --- --- --- --- PASS HHLA2 11148 broad.mit.edu 37 3 108074178 108074178 + Missense_Mutation SNP T A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:108074178T>A uc003dwy.3 + 5 802 c.635T>A c.(634-636)ATT>AAT p.I212N HHLA2_uc011bhl.1_Missense_Mutation_p.I148N|HHLA2_uc010hpu.2_Missense_Mutation_p.I212N|HHLA2_uc003dwz.2_Missense_Mutation_p.I212N NM_007072 NP_009003 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 precursor 212 Ig-like C1-type. integral to membrane ovary(1) 1 GAATGTACAATTGAAAATTCA 0.413 31 160 --- --- --- --- PASS POLQ 10721 broad.mit.edu 37 3 121217424 121217424 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:121217424C>T uc003eee.3 - 13 2182 c.2053G>A c.(2053-2055)GAG>AAG p.E685K NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 685 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) CCCACTAGCTCTGCCACCCTT 0.433 DNA_polymerases_(catalytic_subunits) 30 126 --- --- --- --- PASS HCLS1 3059 broad.mit.edu 37 3 121350949 121350949 + Silent SNP T A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:121350949T>A uc003eeh.3 - 13 1448 c.1323A>T c.(1321-1323)GGA>GGT p.G441G HCLS1_uc011bjj.1_Silent_p.G404G NM_005335 NP_005326 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 441 SH3. erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(114;0.0912) CCAACCTACCTCCTTGGTAAT 0.433 37 201 --- --- --- --- PASS PARP9 83666 broad.mit.edu 37 3 122247311 122247311 + Missense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:122247311G>A uc010hri.2 - 11 2610 c.2465C>T c.(2464-2466)ACC>ATC p.T822I PARP9_uc003eff.3_Missense_Mutation_p.T787I|PARP9_uc011bjs.1_Missense_Mutation_p.T787I|PARP9_uc003efg.2_Missense_Mutation_p.T367I|PARP9_uc003efi.2_Missense_Mutation_p.T787I|PARP9_uc003efh.2_Missense_Mutation_p.T822I NM_001146102 NP_001139574 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 822 PARP catalytic. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1)|pancreas(1)|prostate(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0519) ATATTCCTGGGTGCATGTCCA 0.458 35 152 --- --- --- --- PASS CCDC14 64770 broad.mit.edu 37 3 123634001 123634001 + Silent SNP T A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:123634001T>A uc011bjx.1 - 13 2578 c.2487A>T c.(2485-2487)GTA>GTT p.V829V CCDC14_uc003egv.3_Silent_p.V470V|CCDC14_uc003egx.3_Silent_p.V629V|CCDC14_uc010hrt.2_Silent_p.V788V|CCDC14_uc003egy.3_Silent_p.V629V|CCDC14_uc003egz.2_Intron NM_022757 NP_073594 Q49A88 CCD14_HUMAN coiled-coil domain containing 14 829 centrosome 0 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) AGGAACAGATTACAGGTGTAC 0.433 16 56 --- --- --- --- PASS ALDH1L1 10840 broad.mit.edu 37 3 125874343 125874343 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:125874343G>T uc003eim.1 - 5 722 c.532C>A c.(532-534)CAG>AAG p.Q178K ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Intron|ALDH1L1_uc003eio.2_5'UTR|ALDH1L1_uc010hsf.1_Missense_Mutation_p.Q204K|ALDH1L1_uc003eip.1_Intron|ALDH1L1_uc011bkj.1_Missense_Mutation_p.Q3K NM_012190 NP_036322 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 178 GART. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) CTCACGGCCTGCACCTGGGGA 0.617 24 88 --- --- --- --- PASS TMCC1 23023 broad.mit.edu 37 3 129389565 129389565 + Silent SNP G A A rs115654568 by1000genomes TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:129389565G>A uc003emz.3 - 5 1620 c.1119C>T c.(1117-1119)GCC>GCT p.A373A TMCC1_uc003emy.3_Silent_p.A49A|TMCC1_uc011blc.1_Silent_p.A194A|TMCC1_uc010htg.2_Silent_p.A259A NM_001017395 NP_001017395 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 373 integral to membrane skin(1) 1 GAATGAGTGAGGCAATCTCTC 0.532 22 113 --- --- --- --- PASS COL6A6 131873 broad.mit.edu 37 3 130311431 130311431 + Missense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:130311431G>A uc010htl.2 + 13 4350 c.4319G>A c.(4318-4320)GGA>GAA p.G1440E COL6A6_uc003eni.3_5'UTR NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1440 Triple-helical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 GGTACTAAGGGATGCTATGGC 0.413 13 66 --- --- --- --- PASS SLCO2A1 6578 broad.mit.edu 37 3 133661470 133661470 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:133661470G>T uc003eqa.3 - 11 1878 c.1604C>A c.(1603-1605)CCC>CAC p.P535H SLCO2A1_uc003eqb.3_Missense_Mutation_p.P459H|SLCO2A1_uc011blv.1_Missense_Mutation_p.P354H NM_005630 NP_005621 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, 535 Helical; Name=10; (Potential). sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding central_nervous_system(1) 1 CATGTAGAGGGGGTTGTGGGA 0.582 9 86 --- --- --- --- PASS CLDN18 51208 broad.mit.edu 37 3 137717748 137717748 + Missense_Mutation SNP T G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:137717748T>G uc003ero.1 + 1 91 c.38T>G c.(37-39)GTT>GGT p.V13G NM_001002026 NP_001002026 P56856 CLD18_HUMAN claudin 18 isoform 2 13 Helical; (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity upper_aerodigestive_tract(1)|ovary(1) 2 GGGTTCGTGGTTTCACTGATT 0.557 56 180 --- --- --- --- PASS CPA3 1359 broad.mit.edu 37 3 148601448 148601448 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:148601448C>A uc003ewm.2 + 9 879 c.827C>A c.(826-828)GCA>GAA p.A276E NM_001870 NP_001861 P15088 CBPA3_HUMAN carboxypeptidase A3 precursor 276 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding breast(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) CGGGGCTCTGCACCAGAGTCC 0.473 35 158 --- --- --- --- PASS GPR149 344758 broad.mit.edu 37 3 154145492 154145492 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:154145492G>T uc003faa.2 - 2 1087 c.987C>A c.(985-987)CAC>CAA p.H329Q NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 329 Helical; Name=6; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(6) 6 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GGACCACCATGTGCATCTGCA 0.498 9 107 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164908235 164908235 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:164908235C>A uc003fej.3 - 2 828 c.384G>T c.(382-384)AAG>AAT p.K128N SLITRK3_uc003fek.2_Missense_Mutation_p.K128N NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 128 LRR 3.|Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 GATATAGTCTCTTTAAAATCT 0.353 HNSCC(40;0.11) 28 103 --- --- --- --- PASS BCHE 590 broad.mit.edu 37 3 165491250 165491250 + Missense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:165491250G>A uc003fem.3 - 4 1889 c.1729C>T c.(1729-1731)CGC>TGC p.R577C BCHE_uc003fen.3_RNA NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 577 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) TTGTTCCAGCGATGGAATCCT 0.318 12 98 --- --- --- --- PASS MCF2L2 23101 broad.mit.edu 37 3 182947497 182947497 + Missense_Mutation SNP A C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:182947497A>C uc003fli.1 - 17 2092 c.2002T>G c.(2002-2004)TTT>GTT p.F668V MCF2L2_uc003flj.1_Missense_Mutation_p.F668V|MCF2L2_uc011bqr.1_RNA NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 668 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) CCAAAGAGAAAGTCCTTGTTA 0.353 19 260 --- --- --- --- PASS ATP13A4 84239 broad.mit.edu 37 3 193232568 193232568 + Nonsense_Mutation SNP G C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:193232568G>C uc003ftd.2 - 2 261 c.153C>G c.(151-153)TAC>TAG p.Y51* ATP13A4_uc003fte.1_Nonsense_Mutation_p.Y51*|ATP13A4_uc011bsr.1_5'UTR NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 51 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CTGGTCTCCAGTAAAACACCA 0.507 95 126 --- --- --- --- PASS GP5 2814 broad.mit.edu 37 3 194118758 194118758 + Missense_Mutation SNP T A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:194118758T>A uc003ftv.1 - 2 285 c.254A>T c.(253-255)CAC>CTC p.H85L NM_004488 NP_004479 P40197 GPV_HUMAN glycoprotein V (platelet) precursor 85 LRR 1.|Extracellular (Potential). blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane skin(2)|breast(1) 3 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) GGCGGAAATGTGGCTGTCGGA 0.602 15 127 --- --- --- --- PASS LRRC33 375387 broad.mit.edu 37 3 196387449 196387449 + Missense_Mutation SNP A G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:196387449A>G uc003fwv.2 + 3 1039 c.935A>G c.(934-936)AAC>AGC p.N312S NM_198565 NP_940967 Q86YC3 LRC33_HUMAN leucine rich repeat containing 33 precursor 312 Extracellular (Potential). integral to membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) AACGTGACCAACATCACCACC 0.597 25 155 --- --- --- --- PASS LRRC33 375387 broad.mit.edu 37 3 196387891 196387891 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr3:196387891G>T uc003fwv.2 + 3 1481 c.1377G>T c.(1375-1377)AGG>AGT p.R459S NM_198565 NP_940967 Q86YC3 LRC33_HUMAN leucine rich repeat containing 33 precursor 459 Extracellular (Potential). integral to membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) TGGATTTCAGGAATATGGCAT 0.567 40 264 --- --- --- --- PASS GAK 2580 broad.mit.edu 37 4 853487 853487 + Nonsense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr4:853487G>A uc003gbm.3 - 24 3389 c.3190C>T c.(3190-3192)CAG>TAG p.Q1064* GAK_uc003gbn.3_Nonsense_Mutation_p.Q985*|GAK_uc010ibi.2_Nonsense_Mutation_p.Q245*|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Nonsense_Mutation_p.Q917* NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 1064 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) GGGGCCGGCTGACCTCCAGGA 0.617 20 110 --- --- --- --- PASS WHSC1 7468 broad.mit.edu 37 4 1920071 1920071 + Silent SNP A T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr4:1920071A>T uc003gdz.3 + 5 1307 c.1131A>T c.(1129-1131)TCA>TCT p.S377S WHSC1_uc003geb.3_Silent_p.S377S|WHSC1_uc003gec.3_Silent_p.S377S|WHSC1_uc003ged.3_Silent_p.S377S|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Silent_p.S377S|WHSC1_uc003gdy.1_Silent_p.S377S|WHSC1_uc010icd.1_Silent_p.S377S|WHSC1_uc003gea.1_Silent_p.S377S|WHSC1_uc010ice.1_Silent_p.S377S|WHSC1_uc003geh.1_Silent_p.S377S NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 377 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) CAGAATCCTCAGGAGTCAGTG 0.517 T IGH@ MM 36 108 --- --- --- --- PASS POLN 353497 broad.mit.edu 37 4 2130962 2130962 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr4:2130962G>T uc003ger.2 - 16 1811 c.1811C>A c.(1810-1812)ACG>AAG p.T604K POLN_uc010icg.1_Missense_Mutation_p.T52K|POLN_uc010ich.1_Missense_Mutation_p.T136K NM_181808 NP_861524 Q7Z5Q5 DPOLN_HUMAN DNA-directed DNA polymerase nu 604 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(23;0.0955) CGGGGAGATCGTGAGAATCTT 0.393 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 11 73 --- --- --- --- PASS CYTL1 54360 broad.mit.edu 37 4 5018600 5018600 + Missense_Mutation SNP C T T rs138259359 TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr4:5018600C>T uc003gig.2 - 3 315 c.290G>A c.(289-291)CGG>CAG p.R97Q NM_018659 NP_061129 Q9NRR1 CYTL1_HUMAN cytokine-like 1 precursor 97 signal transduction extracellular space|soluble fraction receptor binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) GTACAGCTTCCGTGCTTTGTC 0.493 51 291 --- --- --- --- PASS STK32B 55351 broad.mit.edu 37 4 5141673 5141673 + Missense_Mutation SNP G C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr4:5141673G>C uc003gih.1 + 2 158 c.94G>C c.(94-96)GGG>CGG p.G32R STK32B_uc010ida.1_5'UTR NM_018401 NP_060871 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 32 ATP (By similarity).|Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 CATTGGTAAAGGGAGTTTTGG 0.408 56 207 --- --- --- --- PASS STK32B 55351 broad.mit.edu 37 4 5141674 5141674 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr4:5141674G>T uc003gih.1 + 2 159 c.95G>T c.(94-96)GGG>GTG p.G32V STK32B_uc010ida.1_5'UTR NM_018401 NP_060871 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 32 ATP (By similarity).|Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 ATTGGTAAAGGGAGTTTTGGA 0.408 53 209 --- --- --- --- PASS EVC2 132884 broad.mit.edu 37 4 5620295 5620295 + Silent SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr4:5620295C>A uc003gij.2 - 15 2670 c.2616G>T c.(2614-2616)CGG>CGT p.R872R EVC2_uc011bwb.1_Silent_p.R312R|EVC2_uc003gik.2_Silent_p.R792R NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 872 integral to membrane large_intestine(3)|ovary(2) 5 GAACTCGGGCCCGGATCTTGG 0.602 26 64 --- --- --- --- PASS TBC1D14 57533 broad.mit.edu 37 4 6925386 6925386 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr4:6925386G>T uc011bwg.1 + 2 349 c.270G>T c.(268-270)CAG>CAT p.Q90H TBC1D14_uc003gjs.3_Missense_Mutation_p.Q90H NM_001113361 NP_001106832 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 isoform a 90 intracellular Rab GTPase activator activity ovary(1)|pancreas(1) 2 GGAGGAAGCAGTCCGACTCCG 0.682 40 104 --- --- --- --- PASS PPARGC1A 10891 broad.mit.edu 37 4 23803878 23803878 + Missense_Mutation SNP C G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr4:23803878C>G uc003gqs.2 - 11 2230 c.2110G>C c.(2110-2112)GAG>CAG p.E704Q PPARGC1A_uc003gqt.2_RNA NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor 704 RRM. androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding ovary(2)|lung(2)|kidney(2)|skin(2) 8 Breast(46;0.0503) GTGCACTCCTCAATTTCACCA 0.423 20 162 --- --- --- --- PASS ARAP2 116984 broad.mit.edu 37 4 36179599 36179599 + Silent SNP T C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr4:36179599T>C uc003gsq.1 - 9 2045 c.1707A>G c.(1705-1707)CTA>CTG p.L569L ARAP2_uc003gsr.1_Silent_p.L569L NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 569 PH 1. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 GTGCATTTAATAGTATGCTGA 0.368 34 87 --- --- --- --- PASS WDR19 57728 broad.mit.edu 37 4 39219646 39219646 + Missense_Mutation SNP G C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr4:39219646G>C uc003gtv.2 + 14 1554 c.1400G>C c.(1399-1401)CGG>CCG p.R467P WDR19_uc003gtu.1_Missense_Mutation_p.G466R|WDR19_uc011byi.1_Missense_Mutation_p.R307P|WDR19_uc003gtw.1_Missense_Mutation_p.R64P NM_025132 NP_079408 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 467 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 CGTGAGACTCGGCTTTTCCCA 0.373 56 353 --- --- --- --- PASS TEC 7006 broad.mit.edu 37 4 48147470 48147470 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr4:48147470C>A uc003gxz.2 - 13 1299 c.1208G>T c.(1207-1209)GGT>GTT p.G403V NM_003215 NP_003206 P42680 TEC_HUMAN tec protein tyrosine kinase 403 Protein kinase. intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1) 9 GCACATTGCACCTTCCCGAAT 0.448 58 202 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 4 69337231 69337231 + Missense_Mutation SNP C G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr4:69337231C>G uc003hdz.3 + 5 444 c.380C>G c.(379-381)TCT>TGT p.S127C NM_014058 NP_054777 transmembrane protease, serine 11E AGATTTCACTCTACTGAGGAT 0.348 73 538 --- --- --- --- PASS UGT2B15 7366 broad.mit.edu 37 4 69513034 69513034 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr4:69513034C>A uc011cal.1 - 6 1419 c.1381G>T c.(1381-1383)GCA>TCA p.A461S NM_001076 NP_001067 P54855 UDB15_HUMAN UDP glycosyltransferase 2B15 precursor 461 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity 0 CAGAAGACTGCTCGATCCAGG 0.423 78 208 --- --- --- --- PASS ENAM 10117 broad.mit.edu 37 4 71508517 71508517 + Nonsense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr4:71508517G>A uc011caw.1 + 9 1655 c.1374G>A c.(1372-1374)TGG>TGA p.W458* NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN enamelin precursor 458 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel ovary(3) 3 Lung(101;0.235) CCAGCCCCTGGAGAAACTCTC 0.388 22 74 --- --- --- --- PASS ENAM 10117 broad.mit.edu 37 4 71509842 71509842 + Missense_Mutation SNP C G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr4:71509842C>G uc011caw.1 + 9 2980 c.2699C>G c.(2698-2700)CCT>CGT p.P900R NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN enamelin precursor 900 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel ovary(3) 3 Lung(101;0.235) GGTCTTGCACCTGGGGAGAAC 0.517 39 110 --- --- --- --- PASS ADAMTS3 9508 broad.mit.edu 37 4 73179413 73179413 + Missense_Mutation SNP G C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr4:73179413G>C uc003hgk.1 - 12 1763 c.1726C>G c.(1726-1728)CGC>GGC p.R576G ADAMTS3_uc003hgl.2_5'Flank NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 576 TSP type-1 1. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTGCACTGGCGTGTTCTGAAA 0.378 13 107 --- --- --- --- PASS NUDT9 53343 broad.mit.edu 37 4 88356355 88356355 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr4:88356355G>T uc003hqq.2 + 2 653 c.330G>T c.(328-330)TGG>TGT p.W110C NUDT9_uc003hqr.2_Missense_Mutation_p.W60C|NUDT9_uc010ikl.2_Missense_Mutation_p.W110C NM_024047 NP_076952 Q9BW91 NUDT9_HUMAN nudix-type motif 9 isoform a 110 mitochondrion ADP-ribose diphosphatase activity 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000937) GACCCAGGTGGGCAGATCCTC 0.453 30 60 --- --- --- --- PASS IBSP 3381 broad.mit.edu 37 4 88732843 88732843 + Missense_Mutation SNP A C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr4:88732843A>C uc003hqx.3 + 7 833 c.735A>C c.(733-735)AGA>AGC p.R245S NM_004967 NP_004958 P21815 SIAL_HUMAN integrin-binding sialoprotein precursor 245 biomineral tissue development|cell adhesion|ossification 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) AAGTCTATAGAACCACTTCCC 0.502 18 49 --- --- --- --- PASS TBCK 93627 broad.mit.edu 37 4 107156479 107156479 + Missense_Mutation SNP C G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr4:107156479C>G uc010ilv.2 - 15 1761 c.1396G>C c.(1396-1398)GAC>CAC p.D466H TBCK_uc003hyb.2_Missense_Mutation_p.D209H|TBCK_uc003hye.2_Missense_Mutation_p.D427H|TBCK_uc003hyc.2_Missense_Mutation_p.D403H|TBCK_uc003hyd.2_Missense_Mutation_p.D294H|TBCK_uc003hyf.2_Missense_Mutation_p.D466H NM_001163435 NP_001156907 Q8TEA7 TBCK_HUMAN TBC domain-containing protein kinase-like 466 Rab-GAP TBC. intracellular Rab GTPase activator activity large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1) 5 GGAGGAATGTCAACTCTTGCT 0.348 14 47 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114199653 114199653 + Missense_Mutation SNP A G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr4:114199653A>G uc003ibe.3 + 17 1920 c.1820A>G c.(1819-1821)GAC>GGC p.D607G ANK2_uc003ibd.3_Missense_Mutation_p.D586G|ANK2_uc003ibf.3_Missense_Mutation_p.D607G|ANK2_uc003ibc.2_Missense_Mutation_p.D583G|ANK2_uc011cgb.1_Missense_Mutation_p.D622G NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 607 ANK 18. 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) GCTCATTATGACAACCAGAAG 0.493 OREG0016024 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 77 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114239775 114239775 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr4:114239775G>T uc003ibe.3 + 26 2999 c.2899G>T c.(2899-2901)GGT>TGT p.G967C ANK2_uc003ibd.3_Missense_Mutation_p.G946C|ANK2_uc003ibf.3_Missense_Mutation_p.G967C|ANK2_uc011cgc.1_Missense_Mutation_p.G176C|ANK2_uc003ibg.3_Translation_Start_Site|ANK2_uc003ibc.2_Missense_Mutation_p.G943C|ANK2_uc011cgb.1_Missense_Mutation_p.G982C NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 967 ZU5.|Interaction with SPTBN1. 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) TATTCATTCAGGGTGAGTAAA 0.428 16 28 --- --- --- --- PASS SMAD1 4086 broad.mit.edu 37 4 146479017 146479017 + Silent SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr4:146479017C>T uc003ikc.2 + 7 1745 c.1329C>T c.(1327-1329)CCC>CCT p.P443P SMAD1_uc003ikd.2_Silent_p.P443P|SMAD1_uc010iov.2_Silent_p.P443P|SMAD1_uc011cic.1_Silent_p.P404P NM_005900 NP_005891 Q15797 SMAD1_HUMAN Sma- and Mad-related protein 1 443 MH2. BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway cytosol|integral to membrane|nuclear inner membrane co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity ovary(1) 1 all_hematologic(180;0.151) TGCACGGCCCCCTCCAGTGGC 0.488 OREG0016348 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 80 167 --- --- --- --- PASS DCLK2 166614 broad.mit.edu 37 4 151153969 151153969 + Nonsense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr4:151153969G>T uc003ilm.3 + 10 1655 c.1555G>T c.(1555-1557)GAG>TAG p.E519* DCLK2_uc003iln.3_Nonsense_Mutation_p.E518*|DCLK2_uc003ilo.3_Nonsense_Mutation_p.E536*|DCLK2_uc003ilp.3_RNA NM_001040260 NP_001035350 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 isoform a 519 Protein kinase. intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity ovary(3) 3 all_hematologic(180;0.151) CATCAAACCAGAGAATCTCTT 0.443 91 228 --- --- --- --- PASS CCDC110 256309 broad.mit.edu 37 4 186379985 186379985 + Nonsense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr4:186379985C>A uc003ixu.3 - 6 1832 c.1756G>T c.(1756-1758)GAA>TAA p.E586* CCDC110_uc003ixv.3_Nonsense_Mutation_p.E549*|CCDC110_uc011ckt.1_Nonsense_Mutation_p.E586* NM_152775 NP_689988 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 isoform a 586 Potential. nucleus central_nervous_system(1) 1 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) TCTAACATTTCTTTTTCATCT 0.308 47 54 --- --- --- --- PASS PLEKHG4B 153478 broad.mit.edu 37 5 143301 143301 + Silent SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr5:143301C>T uc003jak.2 + 2 599 c.549C>T c.(547-549)CCC>CCT p.P183P NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 183 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) GAGACTTCCCCAGCCAGGTGC 0.672 50 194 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13885213 13885213 + Silent SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr5:13885213G>A uc003jfd.2 - 19 2910 c.2868C>T c.(2866-2868)CGC>CGT p.R956R NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 956 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AGAGTAACTCGCGGGCTTCTT 0.443 Kartagener_syndrome 31 136 --- --- --- --- PASS PDZD2 23037 broad.mit.edu 37 5 32074332 32074332 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr5:32074332C>A uc003jhl.2 + 18 3508 c.3120C>A c.(3118-3120)GAC>GAA p.D1040E PDZD2_uc003jhm.2_Missense_Mutation_p.D1040E|PDZD2_uc011cnx.1_Missense_Mutation_p.D866E NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 1040 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 GCTCAGTGGACTTAGAGGAGA 0.592 29 150 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41058234 41058234 + Nonsense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr5:41058234G>T uc003jmj.3 - 7 1177 c.687C>A c.(685-687)TAC>TAA p.Y229* HEATR7B2_uc003jmi.3_5'UTR NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 229 HEAT 2. binding ovary(6)|central_nervous_system(2) 8 GGCCCAGGGCGTATCCACGGA 0.517 54 56 --- --- --- --- PASS CMYA5 202333 broad.mit.edu 37 5 79054627 79054627 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr5:79054627C>A uc003kgc.2 + 7 11234 c.11162C>A c.(11161-11163)ACA>AAA p.T3721K NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3721 Fibronectin type-III 1. perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GCCACCAGCACAACAATTGCA 0.373 29 80 --- --- --- --- PASS ANKRD34B 340120 broad.mit.edu 37 5 79854552 79854552 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr5:79854552C>A uc010jam.2 - 4 1637 c.1287G>T c.(1285-1287)AGG>AGT p.R429S ANKRD34B_uc003kgw.2_Silent_p.G429G|ANKRD34B_uc010jan.2_Missense_Mutation_p.R429S NM_001004441 NP_001004441 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 429 R -> G (in Ref. 1; CAH18341). cytoplasm|nucleus pancreas(1) 1 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) CTGAACCTCGCCTTTCTAAAA 0.468 72 136 --- --- --- --- PASS SLCO4C1 353189 broad.mit.edu 37 5 101572647 101572647 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr5:101572647G>T uc003knm.2 - 13 2377 c.2090C>A c.(2089-2091)ACA>AAA p.T697K NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 697 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) TGACACATCTGTGGCTGATGG 0.328 45 100 --- --- --- --- PASS SLC27A6 28965 broad.mit.edu 37 5 128301899 128301899 + Silent SNP G C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr5:128301899G>C uc003kuy.2 + 2 465 c.69G>C c.(67-69)CTG>CTC p.L23L SLC27A6_uc003kuz.2_Silent_p.L23L NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 23 Helical; (Potential). long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding 0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) AGAAACTCCTGTTCCCTTACT 0.502 41 103 --- --- --- --- PASS C5orf15 56951 broad.mit.edu 37 5 133295551 133295551 + Silent SNP T A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr5:133295551T>A uc003kyo.2 - 2 431 c.300A>T c.(298-300)GCA>GCT p.A100A NM_020199 NP_064584 Q8NC54 KCT2_HUMAN keratinocytes associated transmembrane protein 2 100 Extracellular (Potential). integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02) GGACCACAGATGCTCCTCCAC 0.468 25 35 --- --- --- --- PASS PCDHA8 56140 broad.mit.edu 37 5 140222998 140222998 + Missense_Mutation SNP G C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr5:140222998G>C uc003lhs.2 + 1 2092 c.2092G>C c.(2092-2094)GTG>CTG p.V698L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.V698L NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 698 Helical; (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGATGTCAACGTGTACCTGAT 0.642 30 69 --- --- --- --- PASS PCDHB10 56126 broad.mit.edu 37 5 140573390 140573390 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr5:140573390C>T uc003lix.2 + 1 1439 c.1265C>T c.(1264-1266)ACC>ATC p.T422I NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 422 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATCACTATCACCGTCACTGAC 0.517 46 95 --- --- --- --- PASS PCDHGA4 56111 broad.mit.edu 37 5 140736415 140736415 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr5:140736415C>A uc003ljq.1 + 1 1648 c.1648C>A c.(1648-1650)CTC>ATC p.L550I PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.L550I NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 550 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCACTGAGCCTCTTTGTGCT 0.562 119 268 --- --- --- --- PASS PCDHGB7 56099 broad.mit.edu 37 5 140797688 140797688 + Missense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr5:140797688G>A uc003lkn.1 + 1 407 c.262G>A c.(262-264)GAC>AAC p.D88N PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.D88N|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank NM_018927 NP_061750 Q9Y5F8 PCDGJ_HUMAN protocadherin gamma subfamily B, 7 isoform 1 88 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTTGTGAAGGACCGAATAGA 0.493 40 110 --- --- --- --- PASS ABLIM3 22885 broad.mit.edu 37 5 148627364 148627364 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr5:148627364G>T uc003lpy.2 + 18 1822 c.1571G>T c.(1570-1572)CGG>CTG p.R524L ABLIM3_uc003lpz.1_Missense_Mutation_p.R524L|ABLIM3_uc003lqa.1_Missense_Mutation_p.R421L|ABLIM3_uc003lqb.2_Missense_Mutation_p.R413L|ABLIM3_uc003lqc.1_Missense_Mutation_p.R491L|ABLIM3_uc003lqd.1_Missense_Mutation_p.R429L|ABLIM3_uc003lqf.2_Missense_Mutation_p.R413L|ABLIM3_uc003lqe.1_Missense_Mutation_p.R413L NM_014945 NP_055760 O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 524 axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAATTGGCCGGCTGATTCTG 0.572 21 73 --- --- --- --- PASS GRIA1 2890 broad.mit.edu 37 5 153190660 153190660 + Nonsense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr5:153190660G>T uc003lva.3 + 16 2961 c.2596G>T c.(2596-2598)GGA>TGA p.G866* GRIA1_uc003luy.3_Nonsense_Mutation_p.G866*|GRIA1_uc003luz.3_Nonsense_Mutation_p.G771*|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Nonsense_Mutation_p.G786*|GRIA1_uc011dcx.1_Nonsense_Mutation_p.G797*|GRIA1_uc011dcy.1_Nonsense_Mutation_p.G876*|GRIA1_uc011dcz.1_Nonsense_Mutation_p.G876* NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 866 Cytoplasmic (Potential). AGA -> TAP (in Ref. 1; AAA58613). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CAGCGGGGCAGGAGCCAGCAG 0.572 33 24 --- --- --- --- PASS GABRG2 2566 broad.mit.edu 37 5 161524751 161524751 + Silent SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr5:161524751C>A uc003lyz.3 + 4 793 c.435C>A c.(433-435)ATC>ATA p.I145I GABRG2_uc010jjc.2_Silent_p.I145I|GABRG2_uc003lyy.3_Silent_p.I145I|GABRG2_uc011dej.1_Silent_p.I50I NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 145 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) TGGGGAAAATCTGGATTCCAG 0.423 7 159 --- --- --- --- PASS ODZ2 57451 broad.mit.edu 37 5 167655043 167655043 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr5:167655043C>A uc010jjd.2 + 25 5401 c.5401C>A c.(5401-5403)CTG>ATG p.L1801M ODZ2_uc003lzr.3_Missense_Mutation_p.L1571M|ODZ2_uc003lzt.3_Missense_Mutation_p.L1174M|ODZ2_uc010jje.2_Missense_Mutation_p.L1065M NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) CAACATCTCCCTGCCTATGGA 0.532 3 42 --- --- --- --- PASS DOCK2 1794 broad.mit.edu 37 5 169494609 169494609 + Silent SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr5:169494609C>A uc003maf.2 + 45 4643 c.4563C>A c.(4561-4563)ACC>ACA p.T1521T DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.T1013T|DOCK2_uc003mah.2_Silent_p.T77T NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1521 DHR-2. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTGATGAGACCCTCCCCATCA 0.502 34 127 --- --- --- --- PASS FOXI1 2299 broad.mit.edu 37 5 169533463 169533463 + Nonsense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr5:169533463C>T uc003mai.3 + 1 547 c.502C>T c.(502-504)CAG>TAG p.Q168* FOXI1_uc003maj.3_Nonsense_Mutation_p.Q168* NM_012188 NP_036320 Q12951 FOXI1_HUMAN forkhead box I1 isoform a 168 Fork-head. epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGCCGGCTGGCAGAACTCCAT 0.617 Pendred_syndrome 11 43 --- --- --- --- PASS RANBP17 64901 broad.mit.edu 37 5 170610348 170610348 + Missense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr5:170610348G>A uc003mba.2 + 18 1968 c.1952G>A c.(1951-1953)GGC>GAC p.G651D RANBP17_uc003mbb.2_5'UTR|RANBP17_uc003mbd.2_Missense_Mutation_p.G14D|RANBP17_uc010jjs.2_RNA|RANBP17_uc003mbc.2_Missense_Mutation_p.G14D NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN RAN binding protein 17 651 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CCTTTTCTTGGCATCAGTGAC 0.388 T TRD@ ALL 31 76 --- --- --- --- PASS FKSG83 83954 broad.mit.edu 37 6 27293586 27293586 + Silent SNP A G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr6:27293586A>G uc010jqt.2 + 1 1009 c.525A>G c.(523-525)AGA>AGG p.R175R FKSG83_uc010jqs.1_3'UTR NM_032030 NP_114419 Q3KNW7 Q3KNW7_HUMAN FKSG83 175 integral to membrane pheromone receptor activity 0 TGCATCAAAGAAATCCTGATA 0.244 16 23 --- --- --- --- PASS OR12D3 81797 broad.mit.edu 37 6 29342388 29342388 + Missense_Mutation SNP T C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr6:29342388T>C uc003nme.2 - 1 681 c.677A>G c.(676-678)AAG>AGG p.K226R NM_030959 NP_112221 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, 226 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 GGACCTGTTCTTAAACAGAAG 0.438 45 111 --- --- --- --- PASS GRM4 2914 broad.mit.edu 37 6 34101084 34101084 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr6:34101084C>T uc003oir.3 - 1 360 c.190G>A c.(190-192)GGC>AGC p.G64S GRM4_uc011dsn.1_Missense_Mutation_p.G64S|GRM4_uc010jvh.2_Missense_Mutation_p.G64S|GRM4_uc010jvi.2_5'UTR|GRM4_uc010jvk.1_5'UTR NM_000841 NP_000832 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 precursor 64 Extracellular (Potential). activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 L-Glutamic Acid(DB00142) CAGGGCTTGCCCTCTGAGCCC 0.607 7 73 --- --- --- --- PASS ANKS1A 23294 broad.mit.edu 37 6 34957033 34957033 + Silent SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr6:34957033G>T uc003ojx.3 + 9 1384 c.1242G>T c.(1240-1242)CCG>CCT p.P414P ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR NM_015245 NP_056060 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain 414 cytoplasm protein binding ovary(3)|upper_aerodigestive_tract(1) 4 CAAAGCCACCGCCCGATGAAG 0.413 63 215 --- --- --- --- PASS DAAM2 23500 broad.mit.edu 37 6 39847238 39847238 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr6:39847238G>T uc003oow.2 + 14 1986 c.1830G>T c.(1828-1830)TGG>TGT p.W610C DAAM2_uc010jxc.2_Missense_Mutation_p.W610C|DAAM2_uc003oox.2_Missense_Mutation_p.W610C NM_015345 NP_056160 Q86T65 DAAM2_HUMAN dishevelled associated activator of 610 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2)|skin(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) CCTTCAACTGGGTGAAGCTGA 0.607 24 150 --- --- --- --- PASS UBR2 23304 broad.mit.edu 37 6 42641542 42641542 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr6:42641542G>T uc011dur.1 + 37 4100 c.4100G>T c.(4099-4101)AGG>ATG p.R1367M UBR2_uc011dus.1_Missense_Mutation_p.R1012M|UBR2_uc003osh.2_RNA|UBR2_uc011dut.1_Translation_Start_Site NM_015255 NP_056070 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 1367 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding ovary(3)|pancreas(1) 4 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) GACTGTCTTAGGTCATTGACG 0.393 23 116 --- --- --- --- PASS BCKDHB 594 broad.mit.edu 37 6 80837262 80837262 + Splice_Site SNP A T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr6:80837262A>T uc003pjd.2 + 2 264 c.197_splice c.e2-2 p.G66_splice BCKDHB_uc003pje.2_Splice_Site_p.G66_splice NM_000056 NP_000047 P21953 ODBB_HUMAN branched chain keto acid dehydrogenase E1 beta branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding 0 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) TGATTTTCACAGGGCAAACTC 0.343 34 224 --- --- --- --- PASS FHL5 9457 broad.mit.edu 37 6 97053784 97053784 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr6:97053784G>T uc003pos.1 + 5 746 c.341G>T c.(340-342)CGC>CTC p.R114L FHL5_uc003pot.1_Missense_Mutation_p.R114L NM_020482 NP_065228 Q5TD97 FHL5_HUMAN activator of cAMP-responsive element modulator 114 LIM zinc-binding 2. nucleus zinc ion binding ovary(2) 2 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) ACAGGTTCCCGCAAAATGGAA 0.353 16 96 --- --- --- --- PASS KLHL32 114792 broad.mit.edu 37 6 97561755 97561755 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr6:97561755C>A uc010kcm.1 + 7 1196 c.724C>A c.(724-726)CAT>AAT p.H242N KLHL32_uc003poy.2_Missense_Mutation_p.H242N|KLHL32_uc011ead.1_Missense_Mutation_p.H206N|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Missense_Mutation_p.H173N|KLHL32_uc003ppa.2_Intron NM_052904 NP_443136 Q96NJ5 KLH32_HUMAN kelch-like 32 242 ovary(3)|skin(1) 4 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) GGATACTCTCCATACAGTTGC 0.537 34 208 --- --- --- --- PASS TSPYL1 7259 broad.mit.edu 37 6 116600879 116600879 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr6:116600879G>T uc003pwp.3 - 1 402 c.115C>A c.(115-117)CAA>AAA p.Q39K DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'UTR|DSE_uc003pwr.2_5'Flank|DSE_uc003pws.2_5'Flank NM_003309 NP_003300 Q9H0U9 TSYL1_HUMAN TSPY-like 1 39 nucleosome assembly nucleolus 0 all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234) all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094) GCCTCGCTTTGGTCGCGGAGC 0.652 18 111 --- --- --- --- PASS RFX6 222546 broad.mit.edu 37 6 117241515 117241515 + Missense_Mutation SNP A T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr6:117241515A>T uc003pxm.2 + 12 1288 c.1225A>T c.(1225-1227)ATG>TTG p.M409L NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 409 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 CGTTAATTCTATGGTGTCTGA 0.403 80 268 --- --- --- --- PASS ENPP1 5167 broad.mit.edu 37 6 132204869 132204869 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr6:132204869G>T uc011ecf.1 + 22 2286 c.2266G>T c.(2266-2268)GCT>TCT p.A756S NM_006208 NP_006199 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 756 Nuclease.|Extracellular (Potential). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity upper_aerodigestive_tract(2)|ovary(2) 4 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) ATATTCTGAAGCTTTGCTTAC 0.274 32 147 --- --- --- --- PASS HBS1L 10767 broad.mit.edu 37 6 135363228 135363228 + Missense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr6:135363228G>A uc003qez.2 - 3 353 c.146C>T c.(145-147)TCC>TTC p.S49F HBS1L_uc011ecy.1_5'UTR|HBS1L_uc011ecz.1_Intron|HBS1L_uc011eda.1_Intron|HBS1L_uc003qfa.2_Missense_Mutation_p.S49F NM_006620 NP_006611 Q9Y450 HBS1L_HUMAN Hsp70 subfamily B suppressor 1-like protein 49 signal transduction GTP binding|GTPase activity|translation elongation factor activity skin(2) 2 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) AGGCTCAACGGAAGGTTTGTC 0.343 21 58 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152638029 152638029 + Silent SNP T C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr6:152638029T>C uc010kiw.2 - 87 17267 c.16665A>G c.(16663-16665)GCA>GCG p.A5555A SYNE1_uc010kiv.2_Silent_p.A79A|SYNE1_uc003qos.3_Silent_p.A79A|SYNE1_uc003qot.3_Silent_p.A5484A|SYNE1_uc003qou.3_Silent_p.A5555A|SYNE1_uc010kiz.2_Silent_p.A1310A NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5555 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CAGAATTCCATGCAATAGTTC 0.333 HNSCC(10;0.0054) 28 86 --- --- --- --- PASS MAS1 4142 broad.mit.edu 37 6 160328057 160328057 + Missense_Mutation SNP T A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr6:160328057T>A uc003qsz.2 + 1 84 c.70T>A c.(70-72)TCA>ACA p.S24T NM_002377 NP_002368 P04201 MAS_HUMAN MAS1 oncogene 24 Extracellular (Potential). anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade integral to plasma membrane angiotensin type II receptor activity ovary(2)|lung(2) 4 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06) CAGGAACGCCTCAGTCGGGAA 0.517 28 159 --- --- --- --- PASS GPR31 2853 broad.mit.edu 37 6 167571221 167571221 + Silent SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr6:167571221C>A uc011egq.1 - 1 99 c.99G>T c.(97-99)GCG>GCT p.A33A NM_005299 NP_005290 O00270 GPR31_HUMAN G protein-coupled receptor 31 33 Helical; Name=1; (Potential). integral to plasma membrane G-protein coupled receptor activity 0 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492) ACAGCGCCACCGCGTTGCCCA 0.647 8 48 --- --- --- --- PASS KIF25 3834 broad.mit.edu 37 6 168430290 168430290 + Nonsense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr6:168430290C>T uc003qwk.1 + 2 287 c.25C>T c.(25-27)CAG>TAG p.Q9* KIF25_uc010kkt.1_RNA|KIF25_uc003qwl.1_Nonsense_Mutation_p.Q9* NM_030615 NP_085118 Q9UIL4 KIF25_HUMAN kinesin family member 25 isoform 1 9 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity ovary(1)|pancreas(1) 2 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) AGGTCAGCTTCAGCGTGAGAA 0.627 38 363 --- --- --- --- PASS THBS2 7058 broad.mit.edu 37 6 169648707 169648707 + Silent SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr6:169648707G>A uc003qwt.2 - 4 662 c.414C>T c.(412-414)TCC>TCT p.S138S NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 138 TSP N-terminal.|Heparin-binding (Potential). cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CGTCCTCCAGGGAGACCACAT 0.642 26 92 --- --- --- --- PASS ABCB5 340273 broad.mit.edu 37 7 20782677 20782677 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr7:20782677G>T uc003suw.3 + 16 2413 c.1867G>T c.(1867-1869)GAC>TAC p.D623Y ABCB5_uc010kuh.2_Missense_Mutation_p.D1068Y NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 623 Cytoplasmic (Potential).|ABC transporter 2. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 GAGACTTTATGACCCCGTGCA 0.478 18 35 --- --- --- --- PASS GRB10 2887 broad.mit.edu 37 7 50680468 50680468 + Silent SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr7:50680468C>A uc003tpi.2 - 10 1195 c.1164G>T c.(1162-1164)ACG>ACT p.T388T GRB10_uc003tph.3_Silent_p.T330T|GRB10_uc003tpj.2_Silent_p.T342T|GRB10_uc003tpk.2_Silent_p.T388T|GRB10_uc010kzb.2_Silent_p.T330T|GRB10_uc003tpl.2_Silent_p.T382T|GRB10_uc003tpm.2_Silent_p.T330T|GRB10_uc003tpn.2_Silent_p.T330T NM_005311 NP_005302 Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 isoform 388 PH. insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity lung(3)|ovary(2)|upper_aerodigestive_tract(1) 6 Glioma(55;0.08)|all_neural(89;0.245) TCATCCAGCACGTCCTGGTTT 0.473 Russell-Silver_syndrome 28 30 --- --- --- --- PASS DTX2 113878 broad.mit.edu 37 7 76134751 76134751 + Missense_Mutation SNP A G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr7:76134751A>G uc003uff.3 + 12 2258 c.1702A>G c.(1702-1704)AGC>GGC p.S568G DTX2_uc011kgk.1_Missense_Mutation_p.S477G|DTX2_uc003ufg.3_Missense_Mutation_p.S568G|DTX2_uc003ufh.3_Missense_Mutation_p.S568G|DTX2_uc003ufj.3_Missense_Mutation_p.S521G|DTX2_uc003ufk.3_Missense_Mutation_p.S199G|DTX2_uc003ufm.3_Missense_Mutation_p.S281G|DTX2_uc003ufn.3_Missense_Mutation_p.S153G NM_020892 NP_065943 Q86UW9 DTX2_HUMAN deltex 2 isoform a 568 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding ovary(1)|skin(1) 2 GGGCACGTCCAGCACCACGGG 0.502 8 29 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88963897 88963897 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr7:88963897C>A uc011khi.1 + 4 2139 c.1601C>A c.(1600-1602)CCG>CAG p.P534Q NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 534 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TATCAATATCCGAAACCAAAG 0.368 HNSCC(36;0.09) 35 64 --- --- --- --- PASS STAG3 10734 broad.mit.edu 37 7 99796200 99796200 + Silent SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr7:99796200C>T uc003utx.1 + 13 1502 c.1347C>T c.(1345-1347)TAC>TAT p.Y449Y STAG3_uc010lgs.1_Silent_p.Y237Y|STAG3_uc011kjk.1_Silent_p.Y391Y|STAG3_uc003uub.1_5'Flank NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN stromal antigen 3 449 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AATTTCTGTACTGGAAGTGAG 0.552 34 50 --- --- --- --- PASS KCND2 3751 broad.mit.edu 37 7 119915061 119915061 + Silent SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr7:119915061C>A uc003vjj.1 + 1 1340 c.375C>A c.(373-375)ATC>ATA p.I125I NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 125 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) TTGGCCTCATCCCGGAAATCA 0.582 96 222 --- --- --- --- PASS KCND2 3751 broad.mit.edu 37 7 119915062 119915062 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr7:119915062C>A uc003vjj.1 + 1 1341 c.376C>A c.(376-378)CCG>ACG p.P126T NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 126 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) TGGCCTCATCCCGGAAATCAT 0.582 94 222 --- --- --- --- PASS KLHDC10 23008 broad.mit.edu 37 7 129760629 129760629 + Silent SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr7:129760629G>T uc003vpj.1 + 4 651 c.516G>T c.(514-516)ACG>ACT p.T172T KLHDC10_uc003vpk.1_Silent_p.T143T|KLHDC10_uc010lmb.1_Silent_p.T69T NM_014997 NP_055812 Q6PID8 KLD10_HUMAN kelch domain containing 10 172 Kelch 2. 0 TTGGAGGTACGGGCATCCCAT 0.478 77 137 --- --- --- --- PASS KRBA1 84626 broad.mit.edu 37 7 149422441 149422441 + Missense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr7:149422441G>A uc003wfz.2 + 10 1561 c.1162G>A c.(1162-1164)GAA>AAA p.E388K KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Missense_Mutation_p.E56K NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 388 ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGAAGCCCTGGAAGCCTGTCT 0.592 8 12 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149497030 149497030 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr7:149497030C>A uc010lpk.2 + 49 7070 c.7070C>A c.(7069-7071)CCA>CAA p.P2357Q NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 2357 cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGGACCCTGCCACCAGGTATG 0.647 13 23 --- --- --- --- PASS GIMAP8 155038 broad.mit.edu 37 7 150171294 150171294 + Missense_Mutation SNP T C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr7:150171294T>C uc003whj.2 + 4 1207 c.877T>C c.(877-879)TGG>CGG p.W293R NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 293 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GAGCAGAAGCTGGAGAAAAAA 0.458 50 105 --- --- --- --- PASS GIMAP7 168537 broad.mit.edu 37 7 150217926 150217926 + Missense_Mutation SNP G C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr7:150217926G>C uc003whk.2 + 2 994 c.864G>C c.(862-864)TGG>TGC p.W288C NM_153236 NP_694968 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 288 GTP binding pancreas(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CAGAAATATGGCATAGGTTTT 0.254 14 45 --- --- --- --- PASS NCAPG2 54892 broad.mit.edu 37 7 158438254 158438254 + Silent SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr7:158438254C>A uc003wnv.1 - 26 3382 c.3237G>T c.(3235-3237)GTG>GTT p.V1079V NCAPG2_uc010lqu.1_Silent_p.V824V|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Silent_p.V1079V|NCAPG2_uc011kwe.1_Silent_p.V1079V|NCAPG2_uc011kwc.1_Silent_p.V533V|NCAPG2_uc011kwd.1_Silent_p.V522V NM_017760 NP_060230 Q86XI2 CNDG2_HUMAN leucine zipper protein 5 1079 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding ovary(1)|breast(1)|kidney(1) 3 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) CCGTGAGGCACACAATGCCTT 0.418 26 66 --- --- --- --- PASS MYOM2 9172 broad.mit.edu 37 8 2026941 2026941 + Silent SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr8:2026941G>T uc003wpx.3 + 12 1527 c.1389G>T c.(1387-1389)GCG>GCT p.A463A MYOM2_uc011kwi.1_Intron NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 463 Fibronectin type-III 1. muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TGAACAGTGCGGGCATCAGCC 0.537 65 313 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3565943 3565943 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr8:3565943G>T uc011kwk.1 - 7 1392 c.1002C>A c.(1000-1002)AAC>AAA p.N334K NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 334 Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CACAGACAGAGTTTTTATGGC 0.468 8 24 --- --- --- --- PASS SGK223 157285 broad.mit.edu 37 8 8176148 8176148 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr8:8176148C>T uc003wsh.3 - 5 3737 c.3737G>A c.(3736-3738)CGC>CAC p.R1246H NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 1246 Protein kinase. ATP binding|non-membrane spanning protein tyrosine kinase activity 0 ATCGAACTTGCGGTACTGGGA 0.622 4 63 --- --- --- --- PASS DEFB136 613210 broad.mit.edu 37 8 11831460 11831460 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr8:11831460G>T uc011kxm.1 - 2 223 c.223C>A c.(223-225)CCA>ACA p.P75T NM_001033018 NP_001028190 Q30KP8 DB136_HUMAN beta-defensin 136 precursor 75 defense response to bacterium extracellular region 0 STAD - Stomach adenocarcinoma(15;0.033) COAD - Colon adenocarcinoma(149;0.163) TGAACCCATGGATCTTTGGCT 0.458 46 202 --- --- --- --- PASS ANK1 286 broad.mit.edu 37 8 41530291 41530291 + Silent SNP G C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr8:41530291G>C uc003xok.2 - 38 4761 c.4677C>G c.(4675-4677)ACC>ACG p.T1559T NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Intron|ANK1_uc003xoi.2_Silent_p.T1559T|ANK1_uc003xoj.2_Silent_p.T1559T|ANK1_uc003xol.2_Intron|ANK1_uc003xom.2_Silent_p.T1600T NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1559 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TCTCCAGCATGGTGTCATGCT 0.607 21 68 --- --- --- --- PASS CHRNA6 8973 broad.mit.edu 37 8 42608376 42608376 + Silent SNP A G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr8:42608376A>G uc003xpj.2 - 6 1477 c.1431T>C c.(1429-1431)TTT>TTC p.F477F CHRNA6_uc011lcw.1_Silent_p.F462F NM_004198 NP_004189 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 477 Helical; (Potential). cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) CTGCAGTTCCAAATACACAGA 0.353 10 335 --- --- --- --- PASS CHD7 55636 broad.mit.edu 37 8 61765996 61765996 + Nonsense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr8:61765996G>T uc003xue.2 + 31 7189 c.6712G>T c.(6712-6714)GAA>TAA p.E2238* NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2238 Glu-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GAAAGGTTCCGAAGAGGATGA 0.527 66 54 --- --- --- --- PASS COPS5 10987 broad.mit.edu 37 8 67971496 67971496 + Missense_Mutation SNP G C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr8:67971496G>C uc003xxe.2 - 2 659 c.328C>G c.(328-330)CAG>GAG p.Q110E COPS5_uc003xxd.2_Missense_Mutation_p.Q46E|COPS5_uc003xxf.2_Missense_Mutation_p.Q155E|COPS5_uc010lyu.1_5'Flank|COPS5_uc010lyv.1_Missense_Mutation_p.Q110E NM_006837 NP_006828 Q92905 CSN5_HUMAN COP9 signalosome subunit 5 110 MPN. cullin deneddylation|transcription from RNA polymerase II promoter eukaryotic translation initiation factor 3 complex|signalosome metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity ovary(1)|skin(1) 2 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153) GCAGCAGCCTGAGCATTTACT 0.408 7 163 --- --- --- --- PASS DCAF4L2 138009 broad.mit.edu 37 8 88885963 88885963 + Silent SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr8:88885963C>A uc003ydz.2 - 1 334 c.237G>T c.(235-237)GCG>GCT p.A79A NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 79 ovary(1) 1 TGTTGGTATTCGCCAGTATGC 0.552 52 162 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110451248 110451248 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr8:110451248C>A uc003yne.2 + 32 3987 c.3883C>A c.(3883-3885)CTT>ATT p.L1295I NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1295 Extracellular (Potential).|IPT/TIG 6. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TATTAGATGCCTTTTGCCCAA 0.393 HNSCC(38;0.096) 126 151 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113293416 113293416 + Missense_Mutation SNP T A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr8:113293416T>A uc003ynu.2 - 59 9654 c.9495A>T c.(9493-9495)TTA>TTT p.L3165F CSMD3_uc003yns.2_Missense_Mutation_p.L2367F|CSMD3_uc003ynt.2_Missense_Mutation_p.L3125F|CSMD3_uc011lhx.1_Missense_Mutation_p.L2996F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3165 Extracellular (Potential).|Sushi 23. 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 TACAGTTAGGTAAAGTTCCAG 0.318 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 33 121 --- --- --- --- PASS TRPS1 7227 broad.mit.edu 37 8 116426604 116426604 + Missense_Mutation SNP C G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr8:116426604C>G uc003ynz.2 - 6 3952 c.3493G>C c.(3493-3495)GAT>CAT p.D1165H TRPS1_uc011lhy.1_Missense_Mutation_p.D1169H|TRPS1_uc003yny.2_Missense_Mutation_p.D1178H|TRPS1_uc010mcy.2_Missense_Mutation_p.D1165H NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 1165 Transcriptional repressor domain (By similarity).|Mediates interaction with RNF4 (By similarity). negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) ATCGCCAAATCTAGAGGAATG 0.473 Langer-Giedion_syndrome 53 54 --- --- --- --- PASS SLC30A8 169026 broad.mit.edu 37 8 118175695 118175695 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr8:118175695C>A uc003yoh.2 + 6 985 c.755C>A c.(754-756)ACA>AAA p.T252K SLC30A8_uc010mcz.2_Missense_Mutation_p.T203K|SLC30A8_uc011lia.1_Missense_Mutation_p.T203K|SLC30A8_uc003yog.2_Missense_Mutation_p.T203K NM_173851 NP_776250 Q8IWU4 ZNT8_HUMAN solute carrier family 30 member 8 252 Helical; (Potential). insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity ovary(2)|skin(2) 4 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) CCAATCTGCACATTCATCTTT 0.378 58 99 --- --- --- --- PASS TRAPPC9 83696 broad.mit.edu 37 8 141449292 141449292 + Missense_Mutation SNP A G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr8:141449292A>G uc003yvj.2 - 3 723 c.589T>C c.(589-591)TAC>CAC p.Y197H TRAPPC9_uc003yvh.2_Missense_Mutation_p.Y295H|TRAPPC9_uc003yvi.1_Missense_Mutation_p.Y197H NM_001160372 NP_001153844 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 isoform 197 cell differentiation endoplasmic reticulum|Golgi apparatus skin(2) 2 CGCTTCTTGTAATGTCTAGAA 0.473 35 137 --- --- --- --- PASS CYP11B1 1584 broad.mit.edu 37 8 143958177 143958177 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr8:143958177C>A uc003yxi.2 - 4 727 c.720G>T c.(718-720)ATG>ATT p.M240I CYP11B1_uc010mex.2_5'Flank|CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.M240I|CYP11B1_uc010mey.2_Missense_Mutation_p.M311I NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 240 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GGCTCCTGGGCATGAACATGA 0.622 Familial_Hyperaldosteronism_type_I 7 34 --- --- --- --- PASS SH3GL2 6456 broad.mit.edu 37 9 17761492 17761492 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr9:17761492C>A uc003zna.2 + 3 460 c.172C>A c.(172-174)CTT>ATT p.L58I SH3GL2_uc011lmx.1_Missense_Mutation_p.L23I|SH3GL2_uc011lmy.1_Missense_Mutation_p.L11I NM_003026 NP_003017 Q99962 SH3G2_HUMAN SH3-domain GRB2-like 2 58 BAR.|Binds and tubulates liposomes (By similarity). axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport cytosol|Golgi membrane|plasma membrane identical protein binding|lipid binding skin(1) 1 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) AATTGAATACCTTCAACCCAA 0.353 28 119 --- --- --- --- PASS KLHL9 55958 broad.mit.edu 37 9 21333639 21333639 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr9:21333639C>A uc003zoy.2 - 1 1791 c.1220G>T c.(1219-1221)CGC>CTC p.R407L KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA NM_018847 NP_061335 Q9P2J3 KLHL9_HUMAN kelch-like 9 407 Kelch 3. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|midbody p.R407C(1) ovary(3)|skin(1) 4 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) AGCTGCACTGCGCCCACCAAC 0.448 25 128 --- --- --- --- PASS HNRNPK 3190 broad.mit.edu 37 9 86585085 86585085 + Silent SNP C G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr9:86585085C>G uc004ang.3 - 16 1577 c.1353G>C c.(1351-1353)CTG>CTC p.L451L HNRNPK_uc011lsw.1_Silent_p.L211L|HNRNPK_uc004and.3_Silent_p.L211L|HNRNPK_uc004ank.3_Silent_p.L450L|HNRNPK_uc004anf.3_Silent_p.L451L|HNRNPK_uc004anh.3_Silent_p.L427L|HNRNPK_uc011lsx.1_Silent_p.L427L|HNRNPK_uc004ani.3_Silent_p.L450L|HNRNPK_uc004anj.3_Silent_p.L450L|HNRNPK_uc004ann.3_Silent_p.L426L|HNRNPK_uc004anl.3_Silent_p.L451L|HNRNPK_uc004anm.3_Silent_p.L451L|uc004ano.1_5'Flank|MIR7-1_hsa-mir-7-1|MI0000263_5'Flank NM_031262 NP_112552 P61978 HNRPK_HUMAN heterogeneous nuclear ribonucleoprotein K 451 KH 3. interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding skin(1) 1 ACCTGTTCTGCAGCAAATACT 0.358 53 101 --- --- --- --- PASS SLC35D2 11046 broad.mit.edu 37 9 99114388 99114388 + Silent SNP T A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr9:99114388T>A uc004awc.2 - 5 427 c.351A>T c.(349-351)CTA>CTT p.L117L SLC35D2_uc010msd.2_RNA|SLC35D2_uc010mse.2_Intron|SLC35D2_uc010msf.2_Silent_p.L117L|SLC35D2_uc004awd.2_Intron|SLC35D2_uc004awe.2_Silent_p.L117L NM_007001 NP_008932 Q76EJ3 S35D2_HUMAN solute carrier family 35, member D2 117 Cytoplasmic (Potential). Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity 0 Acute lymphoblastic leukemia(62;0.0167) TGAACATCGGTAGGCTGCCAG 0.383 10 31 --- --- --- --- PASS OR13C9 286362 broad.mit.edu 37 9 107379751 107379751 + Silent SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr9:107379751C>A uc011lvr.1 - 1 735 c.735G>T c.(733-735)CTG>CTT p.L245L NM_001001956 NP_001001956 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, 245 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGACCACAGTCAGATGGGCTG 0.413 54 90 --- --- --- --- PASS PALM2-AKAP2 445815 broad.mit.edu 37 9 112898997 112898997 + Silent SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr9:112898997G>A uc004bei.2 + 9 2061 c.1869G>A c.(1867-1869)CGG>CGA p.R623R PALM2-AKAP2_uc004bek.3_Silent_p.R391R|PALM2-AKAP2_uc004bej.3_Silent_p.R391R|PALM2-AKAP2_uc004bel.1_Silent_p.R201R|AKAP2_uc011lwi.1_Silent_p.R249R|AKAP2_uc004bem.2_Silent_p.R249R|PALM2-AKAP2_uc010mtw.1_Silent_p.R209R|AKAP2_uc011lwj.1_Silent_p.R160R|PALM2-AKAP2_uc004ben.2_Silent_p.R160R NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 160 enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 CCAGCTCACGGTGTTCTTCCC 0.572 14 48 --- --- --- --- PASS TTF1 7270 broad.mit.edu 37 9 135277305 135277305 + Missense_Mutation SNP C G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr9:135277305C>G uc004cbl.2 - 2 956 c.904G>C c.(904-906)GAG>CAG p.E302Q TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase 302 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) GCCCCAACCTCACTGCCCACT 0.448 16 341 --- --- --- --- PASS GBGT1 26301 broad.mit.edu 37 9 136029595 136029595 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr9:136029595C>A uc004ccw.2 - 7 694 c.413G>T c.(412-414)CGT>CTT p.R138L RALGDS_uc011mcw.1_Intron|GBGT1_uc004ccx.2_Missense_Mutation_p.R91L|GBGT1_uc010nab.2_Silent_p.A150A|GBGT1_uc011mcx.1_Missense_Mutation_p.R121L|GBGT1_uc010nac.1_Missense_Mutation_p.R2L|GBGT1_uc004ccy.1_3'UTR NM_021996 NP_068836 Q8N5D6 GBGT1_HUMAN globoside 138 Lumenal (Potential). carbohydrate metabolic process|glycolipid biosynthetic process Golgi membrane|integral to membrane metal ion binding 0 OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05) CCGGTACCCACGCATGAAGAA 0.597 25 42 --- --- --- --- PASS NOTCH1 4851 broad.mit.edu 37 9 139412363 139412363 + Nonsense_Mutation SNP T A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr9:139412363T>A uc004chz.2 - 8 1282 c.1282A>T c.(1282-1284)AAG>TAG p.K428* NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 428 Extracellular (Potential).|EGF-like 11; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TTGATGCACTTGCCCGCATGC 0.667 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 24 52 --- --- --- --- PASS ABCA2 20 broad.mit.edu 37 9 139916869 139916869 + Silent SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr9:139916869C>A uc011mem.1 - 5 646 c.498G>T c.(496-498)ACG>ACT p.T166T ABCA2_uc011mel.1_Silent_p.T167T|ABCA2_uc004ckl.1_Silent_p.T97T|ABCA2_uc004ckm.1_Silent_p.T197T|ABCA2_uc004cko.1_5'UTR|ABCA2_uc010nca.2_Silent_p.T97T NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 166 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances 0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) ACAAGTTTTGCGTCAGGAAAC 0.647 7 14 --- --- --- --- PASS ANKRD26 22852 broad.mit.edu 37 10 27323831 27323831 + Missense_Mutation SNP T C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr10:27323831T>C uc001ith.2 - 24 3717 c.3545A>G c.(3544-3546)GAA>GGA p.E1182G ANKRD26_uc001itg.2_Missense_Mutation_p.E869G|ANKRD26_uc009xku.1_Missense_Mutation_p.E1183G NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1182 Potential. centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 ACTTTGCTTTTCACTCTCAGC 0.353 47 185 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55719602 55719602 + Silent SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr10:55719602C>T uc001jju.1 - 23 3407 c.3012G>A c.(3010-3012)TTG>TTA p.L1004L PCDH15_uc010qhq.1_Silent_p.L1009L|PCDH15_uc010qhr.1_Silent_p.L1004L|PCDH15_uc010qhs.1_Silent_p.L1016L|PCDH15_uc010qht.1_Silent_p.L1011L|PCDH15_uc010qhu.1_Silent_p.L1004L|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.L1004L|PCDH15_uc010qhw.1_Silent_p.L967L|PCDH15_uc010qhx.1_Silent_p.L933L|PCDH15_uc010qhy.1_Silent_p.L1009L|PCDH15_uc010qhz.1_Silent_p.L1004L|PCDH15_uc010qia.1_Silent_p.L982L|PCDH15_uc010qib.1_Silent_p.L982L NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1004 Extracellular (Potential).|Cadherin 9. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) CAACCACCACCAACTTAAAAA 0.393 HNSCC(58;0.16) 8 81 --- --- --- --- PASS TMEM26 219623 broad.mit.edu 37 10 63170096 63170096 + Missense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr10:63170096G>A uc001jlo.2 - 6 1460 c.1091C>T c.(1090-1092)TCC>TTC p.S364F TMEM26_uc010qij.1_RNA|TMEM26_uc001jlp.1_RNA NM_178505 NP_848600 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 364 integral to membrane 0 Prostate(12;0.0112) GGTGTGGTGGGAGTCGTCGGA 0.572 12 66 --- --- --- --- PASS CYP2C19 1557 broad.mit.edu 37 10 96602727 96602727 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr10:96602727C>A uc010qnz.1 + 7 1095 c.1095C>A c.(1093-1095)AGC>AGA p.S365R CYP2C19_uc010qny.1_Missense_Mutation_p.S343R NM_000769 NP_000760 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, 365 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity ovary(4)|central_nervous_system(1)|skin(1) 6 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TCCCCACCAGCCTGCCCCATG 0.522 65 194 --- --- --- --- PASS CYP2C19 1557 broad.mit.edu 37 10 96602728 96602728 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr10:96602728C>A uc010qnz.1 + 7 1096 c.1096C>A c.(1096-1098)CTG>ATG p.L366M CYP2C19_uc010qny.1_Missense_Mutation_p.L344M NM_000769 NP_000760 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, 366 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity p.L366Q(1) ovary(4)|central_nervous_system(1)|skin(1) 6 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) CCCCACCAGCCTGCCCCATGC 0.522 65 193 --- --- --- --- PASS SLC25A28 81894 broad.mit.edu 37 10 101370858 101370858 + Silent SNP T C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr10:101370858T>C uc001kpx.2 - 4 972 c.843A>G c.(841-843)CCA>CCG p.P281P SLC25A28_uc001kpy.2_Silent_p.P94P NM_031212 NP_112489 Q96A46 MFRN2_HUMAN solute carrier family 25, member 28 281 Solcar 3. ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane 0 Colorectal(252;0.234) Epithelial(162;2.57e-10)|all cancers(201;2.01e-08) AAACGTCCAGTGGGGTTGTGG 0.562 28 64 --- --- --- --- PASS PNLIP 5406 broad.mit.edu 37 10 118314941 118314941 + Missense_Mutation SNP C G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr10:118314941C>G uc001lcm.2 + 8 776 c.733C>G c.(733-735)CCA>GCA p.P245A NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor 245 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) AGATTTCTTTCCAAATGGAGG 0.388 31 183 --- --- --- --- PASS SEC23IP 11196 broad.mit.edu 37 10 121677443 121677443 + Missense_Mutation SNP A T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr10:121677443A>T uc001leu.1 + 9 1712 c.1640A>T c.(1639-1641)TAC>TTC p.Y547F SEC23IP_uc010qtc.1_Missense_Mutation_p.Y336F|SEC23IP_uc009xzk.1_5'Flank NM_007190 NP_009121 Q9Y6Y8 S23IP_HUMAN Sec23-interacting protein p125 547 Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding ovary(3) 3 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) AGCCCCACCTACTGTCAGACA 0.383 25 143 --- --- --- --- PASS FAM24A 118670 broad.mit.edu 37 10 124672393 124672393 + Missense_Mutation SNP T A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr10:124672393T>A uc001lgv.2 + 3 362 c.241T>A c.(241-243)TGC>AGC p.C81S NM_001029888 NP_001025059 A6NFZ4 FA24A_HUMAN family with sequence similarity 24, member A 81 extracellular region ovary(2) 2 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141) ATCTCTCCAGTGCTGTGAAGG 0.507 19 119 --- --- --- --- PASS ADAM12 8038 broad.mit.edu 37 10 127806717 127806717 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr10:127806717G>T uc001ljk.2 - 6 915 c.502C>A c.(502-504)CCA>ACA p.P168T ADAM12_uc010qul.1_Missense_Mutation_p.P165T|ADAM12_uc001ljm.2_Missense_Mutation_p.P168T|ADAM12_uc001ljn.2_Missense_Mutation_p.P165T|ADAM12_uc001ljl.3_Missense_Mutation_p.P165T NM_003474 NP_003465 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 isoform 1 168 cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 9 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) TTCTTCGCTGGGAAGAGTTTG 0.423 32 151 --- --- --- --- PASS FAM196A 642938 broad.mit.edu 37 10 128974520 128974520 + Missense_Mutation SNP A T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr10:128974520A>T uc001lju.1 - 1 181 c.140T>A c.(139-141)GTG>GAG p.V47E DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.V47E|FAM196A_uc001ljv.1_Missense_Mutation_p.V47E|FAM196A_uc009yap.1_Missense_Mutation_p.V47E NM_001039762 NP_001034851 Q6ZSG2 F196A_HUMAN hypothetical protein LOC642938 47 ovary(2) 2 CTTAAACCGCACCTGCAGGGC 0.607 48 280 --- --- --- --- PASS TUBGCP2 10844 broad.mit.edu 37 10 135106147 135106147 + Missense_Mutation SNP C G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr10:135106147C>G uc001lmg.1 - 8 1427 c.1070G>C c.(1069-1071)AGC>ACC p.S357T TUBGCP2_uc001lmf.1_5'Flank|TUBGCP2_uc010qvc.1_Missense_Mutation_p.S385T|TUBGCP2_uc009ybk.1_Missense_Mutation_p.S357T|TUBGCP2_uc010qvd.1_Missense_Mutation_p.S227T|TUBGCP2_uc001lmh.1_RNA NM_006659 NP_006650 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 357 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) GTGGAGCAGGCTCAGCGTGGA 0.622 6 46 --- --- --- --- PASS NUP98 4928 broad.mit.edu 37 11 3714580 3714580 + Missense_Mutation SNP T G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr11:3714580T>G uc001lyh.2 - 27 4484 c.4193A>C c.(4192-4194)CAA>CCA p.Q1398P NUP98_uc001lyi.2_Missense_Mutation_p.Q1398P|NUP98_uc001lyg.2_Missense_Mutation_p.Q363P NM_016320 NP_057404 P52948 NUP98_HUMAN nucleoporin 98kD isoform 1 1415 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1) 12 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CACGTTTATTTGCTTCTTTTC 0.458 T HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11 AML 24 146 --- --- --- --- PASS OR52M1 119772 broad.mit.edu 37 11 4566615 4566615 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr11:4566615G>T uc010qyf.1 + 1 195 c.195G>T c.(193-195)TTG>TTT p.L65F NM_001004137 NP_001004137 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, 65 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ACTTTTTCTTGTGCATGTTGG 0.522 42 92 --- --- --- --- PASS OR51B2 79345 broad.mit.edu 37 11 5345100 5345100 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr11:5345100C>A uc001mao.1 - 1 483 c.428G>T c.(427-429)GGA>GTA p.G143V HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033180 NP_149420 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, 143 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CACTCCCACTCCTAACGCTAT 0.413 31 104 --- --- --- --- PASS OR51B2 79345 broad.mit.edu 37 11 5345101 5345101 + Nonsense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr11:5345101C>A uc001mao.1 - 1 482 c.427G>T c.(427-429)GGA>TGA p.G143* HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033180 NP_149420 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, 143 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTCCCACTCCTAACGCTATG 0.408 33 106 --- --- --- --- PASS OR56A1 120796 broad.mit.edu 37 11 6048063 6048063 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr11:6048063G>T uc010qzw.1 - 1 872 c.872C>A c.(871-873)CCT>CAT p.P291H NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, 291 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAATGCAGGAGGAATAAGGTG 0.463 34 80 --- --- --- --- PASS NLRP14 338323 broad.mit.edu 37 11 7079636 7079636 + Missense_Mutation SNP T C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr11:7079636T>C uc001mfb.1 + 8 2911 c.2588T>C c.(2587-2589)ATG>ACG p.M863T NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 863 LRR 5. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GTAAAGCTTATGAGTGATGCC 0.388 59 133 --- --- --- --- PASS NAV2 89797 broad.mit.edu 37 11 19901506 19901506 + Missense_Mutation SNP C G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr11:19901506C>G uc010rdm.1 + 5 964 c.603C>G c.(601-603)CAC>CAG p.H201Q NAV2_uc001mpp.2_Missense_Mutation_p.H137Q|NAV2_uc001mpr.3_Missense_Mutation_p.H201Q NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 201 Gln-rich. nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 agaagcagcaCCTCTCCTCAC 0.537 5 6 --- --- --- --- PASS FIBIN 387758 broad.mit.edu 37 11 27016314 27016314 + Silent SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr11:27016314C>A uc001mrd.2 + 1 687 c.241C>A c.(241-243)CGG>AGG p.R81R NM_203371 NP_976249 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog precursor 81 extracellular region|Golgi apparatus 0 CCTCACCCTGCGGGAGGAGTT 0.657 13 28 --- --- --- --- PASS ACCS 84680 broad.mit.edu 37 11 44102757 44102757 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr11:44102757G>T uc009yks.1 + 12 1142 c.998G>T c.(997-999)GGC>GTC p.G333V EXT2_uc010rfo.1_Intron|ACCS_uc001mxx.2_Missense_Mutation_p.G333V NM_001127219 NP_001120691 Q96QU6 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase 333 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups breast(2)|ovary(1)|lung(1) 4 CTCCGCTTTGGCACGCTGTAC 0.627 19 165 --- --- --- --- PASS MADD 8567 broad.mit.edu 37 11 47305939 47305939 + Silent SNP G C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr11:47305939G>C uc001ner.1 + 12 2171 c.1980G>C c.(1978-1980)CTG>CTC p.L660L MADD_uc001neq.2_Silent_p.L660L|MADD_uc001nev.1_Silent_p.L660L|MADD_uc001nes.1_Silent_p.L660L|MADD_uc001net.1_Silent_p.L660L|MADD_uc009yln.1_Silent_p.L660L|MADD_uc001neu.1_Silent_p.L660L|MADD_uc001nex.2_Silent_p.L660L|MADD_uc001nez.2_Silent_p.L660L|MADD_uc001new.2_Silent_p.L660L NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 660 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) TGGACCCTCTGACACATGCAG 0.597 26 166 --- --- --- --- PASS FOLH1 2346 broad.mit.edu 37 11 49175785 49175785 + Nonsense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr11:49175785G>T uc001ngy.2 - 16 2144 c.1883C>A c.(1882-1884)TCA>TAA p.S628* FOLH1_uc001ngx.2_Nonsense_Mutation_p.S60*|FOLH1_uc001ngz.2_Nonsense_Mutation_p.S628*|FOLH1_uc009yly.2_Nonsense_Mutation_p.S613*|FOLH1_uc009ylz.2_Nonsense_Mutation_p.S613*|FOLH1_uc009yma.2_Nonsense_Mutation_p.S320* NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 628 Extracellular (Probable). Charge relay system (Potential). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) CATACCAAATGATACACTGTA 0.313 7 212 --- --- --- --- PASS OR5D14 219436 broad.mit.edu 37 11 55563077 55563077 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr11:55563077C>T uc010rim.1 + 1 46 c.46C>T c.(46-48)CTT>TTT p.L16F NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 16 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) CACCTTTGCCCTTTTAGGTTT 0.408 92 193 --- --- --- --- PASS OR5D18 219438 broad.mit.edu 37 11 55587837 55587837 + Silent SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr11:55587837C>T uc010rin.1 + 1 732 c.732C>T c.(730-732)TCC>TCT p.S244S NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 244 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) CCTGTGCCTCCCACCTGACTG 0.517 28 136 --- --- --- --- PASS SPRYD5 84767 broad.mit.edu 37 11 55655637 55655637 + Missense_Mutation SNP A G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr11:55655637A>G uc010rip.1 + 4 729 c.637A>G c.(637-639)AAT>GAT p.N213D SPRYD5_uc010riq.1_Missense_Mutation_p.N70D NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 213 intracellular zinc ion binding 0 all_epithelial(135;0.226) TCAGCAACTCAATGAAAGCAA 0.448 26 93 --- --- --- --- PASS OR5J2 282775 broad.mit.edu 37 11 55944867 55944867 + Silent SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr11:55944867C>T uc010rjb.1 + 1 774 c.774C>T c.(772-774)AGC>AGT p.S258S NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 258 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) TAATCTTTAGCTACATTCAGC 0.453 74 210 --- --- --- --- PASS CTNND1 1500 broad.mit.edu 37 11 57583454 57583454 + Missense_Mutation SNP A T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr11:57583454A>T uc001nmc.3 + 20 3447 c.2876A>T c.(2875-2877)CAA>CTA p.Q959L CTNND1_uc001nlh.1_Intron|CTNND1_uc001nlu.3_Intron|CTNND1_uc001nlt.3_Intron|CTNND1_uc001nls.3_Missense_Mutation_p.Q831L|CTNND1_uc001nlw.3_Intron|CTNND1_uc001nmf.3_Intron|CTNND1_uc001nmd.3_Missense_Mutation_p.Q905L|CTNND1_uc001nlk.3_Intron|CTNND1_uc001nme.3_Missense_Mutation_p.Q953L|CTNND1_uc001nll.3_Intron|CTNND1_uc001nmg.3_Intron|CTNND1_uc001nlj.3_Missense_Mutation_p.Q899L|CTNND1_uc001nlr.3_Intron|CTNND1_uc001nlp.3_Missense_Mutation_p.Q878L|CTNND1_uc001nlx.3_Missense_Mutation_p.Q636L|CTNND1_uc001nlz.3_Intron|CTNND1_uc009ymn.2_Intron|CTNND1_uc001nlm.3_Intron|CTNND1_uc001nly.3_Missense_Mutation_p.Q630L|CTNND1_uc001nmb.3_Intron|CTNND1_uc001nma.3_Missense_Mutation_p.Q609L|CTNND1_uc001nmi.3_Missense_Mutation_p.Q858L|CTNND1_uc001nmh.3_Intron|CTNND1_uc001nlq.3_Intron|CTNND1_uc001nln.3_Intron|CTNND1_uc001nli.3_Missense_Mutation_p.Q932L|CTNND1_uc001nlo.3_Missense_Mutation_p.Q852L|CTNND1_uc001nlv.3_Intron NM_001085458 NP_001078927 O60716 CTND1_HUMAN catenin, delta 1 isoform 1ABC 959 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(4)|ovary(1)|kidney(1) 6 all_epithelial(135;0.155) GAGGGGGGCCAAGTGTCTTAC 0.498 8 34 --- --- --- --- PASS SLC22A9 114571 broad.mit.edu 37 11 63143203 63143203 + Missense_Mutation SNP G C C rs1801518 TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr11:63143203G>C uc001nww.2 + 5 1185 c.917G>C c.(916-918)AGT>ACT p.S306T SLC22A9_uc001nwx.2_RNA NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion/cation 306 Cytoplasmic (Potential). transmembrane transport integral to membrane breast(2)|large_intestine(1) 3 GCACACAGGAGTGGAATGAAG 0.468 21 141 --- --- --- --- PASS MARK2 2011 broad.mit.edu 37 11 63666289 63666289 + Missense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr11:63666289G>A uc001nxw.2 + 6 1037 c.458G>A c.(457-459)CGA>CAA p.R153Q MARK2_uc001nxx.2_Missense_Mutation_p.R153Q|MARK2_uc001nxy.2_Missense_Mutation_p.R153Q|MARK2_uc001nxv.3_Missense_Mutation_p.R153Q|MARK2_uc001nxz.3_Missense_Mutation_p.R120Q|MARK2_uc009yoy.2_Missense_Mutation_p.R120Q NM_001039469 NP_001034558 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 153 Protein kinase. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 AAAGAGGCTCGAGCCAAATTC 0.517 5 79 --- --- --- --- PASS TIGD3 220359 broad.mit.edu 37 11 65124390 65124390 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr11:65124390C>A uc001odo.3 + 2 1274 c.1111C>A c.(1111-1113)CCC>ACC p.P371T NM_145719 NP_663771 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 371 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 CGGCAAAACGCCCCCGTCCTC 0.637 66 162 --- --- --- --- PASS BBS1 582 broad.mit.edu 37 11 66287220 66287220 + Splice_Site SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr11:66287220G>A uc001oij.1 + 8 735 c.723_splice c.e8+1 p.K241_splice BBS1_uc001oii.1_Splice_Site_p.K278_splice|BBS1_uc010rpf.1_Splice_Site|BBS1_uc010rpg.1_Intron|BBS1_uc001oik.1_Splice_Site_p.K165_splice|BBS1_uc001oil.1_Splice_Site_p.K241_splice NM_024649 NP_078925 Q8NFJ9 BBS1_HUMAN Bardet-Biedl syndrome 1 nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis BBSome|cilium membrane|cytoplasm protein binding ovary(1) 1 TTTAGCCAAGGTCAGCGTCAG 0.547 Bardet-Biedl_syndrome 13 67 --- --- --- --- PASS INPPL1 3636 broad.mit.edu 37 11 71942192 71942192 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr11:71942192C>T uc001osf.2 + 12 1603 c.1456C>T c.(1456-1458)CGC>TGC p.R486C INPPL1_uc001osg.2_Missense_Mutation_p.R244C NM_001567 NP_001558 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 486 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding skin(2)|ovary(1)|breast(1) 4 GGACCTACTGCGCGGGGGCCT 0.602 11 352 --- --- --- --- PASS ATG16L2 89849 broad.mit.edu 37 11 72539536 72539536 + Missense_Mutation SNP C G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr11:72539536C>G uc001otd.2 + 15 1645 c.1605C>G c.(1603-1605)AAC>AAG p.N535K ATG16L2_uc001ote.2_Missense_Mutation_p.N429K|ATG16L2_uc009ytj.1_Missense_Mutation_p.H151D|ATG16L2_uc001otf.2_Missense_Mutation_p.N290K|ATG16L2_uc001otg.2_Missense_Mutation_p.N269K|ATG16L2_uc009ytk.2_Missense_Mutation_p.N290K NM_033388 NP_203746 Q8NAA4 A16L2_HUMAN ATG16 autophagy related 16-like 2 535 WD 5. autophagy|protein transport cytoplasm protein binding 0 BRCA - Breast invasive adenocarcinoma(5;2.73e-06) GTGTCAGCAACATCCGCCAGG 0.597 30 165 --- --- --- --- PASS C11orf82 220042 broad.mit.edu 37 11 82644184 82644184 + Missense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr11:82644184G>A uc001ozt.2 + 6 2048 c.1804G>A c.(1804-1806)GAT>AAT p.D602N C11orf82_uc010rsr.1_Missense_Mutation_p.D301N|C11orf82_uc010rss.1_Missense_Mutation_p.D301N|C11orf82_uc009yvd.2_Intron NM_145018 NP_659455 Q8IXT1 NOXIN_HUMAN nitric oxide-inducible gene protein 602 apoptosis|cell cycle arrest cytoplasm|nucleus ovary(2) 2 GAAGTATAATGATGTCTCTGA 0.308 28 80 --- --- --- --- PASS HEPHL1 341208 broad.mit.edu 37 11 93806196 93806196 + Missense_Mutation SNP C G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr11:93806196C>G uc001pep.2 + 7 1395 c.1238C>G c.(1237-1239)TCT>TGT p.S413C uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 413 Plastocyanin-like 3.|Extracellular (Potential). copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TTCAGTGACTCTGATCTCTAC 0.358 20 35 --- --- --- --- PASS MMP20 9313 broad.mit.edu 37 11 102449824 102449824 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr11:102449824C>T uc001phc.2 - 9 1310 c.1297G>A c.(1297-1299)GAA>AAA p.E433K NM_004771 NP_004762 O60882 MMP20_HUMAN matrix metalloproteinase 20 preproprotein 433 Hemopexin-like 3. proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding urinary_tract(1)|skin(1) 2 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) AATTCTTCTTCAGTATTCTTT 0.308 24 665 --- --- --- --- PASS CLDN25 644672 broad.mit.edu 37 11 113650528 113650528 + Missense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr11:113650528G>A uc009yyw.1 + 1 11 c.11G>A c.(10-12)AGT>AAT p.S4N NM_001101389 NP_001094859 C9JDP6 CLD25_HUMAN claudin 25 4 Cytoplasmic (Potential). integral to membrane|tight junction structural molecule activity 0 ATGGCCTGGAGTTTCCGTGCA 0.547 61 119 --- --- --- --- PASS DSCAML1 57453 broad.mit.edu 37 11 117303185 117303185 + Nonsense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr11:117303185C>A uc001prh.1 - 30 5244 c.5242G>T c.(5242-5244)GAG>TAG p.E1748* NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1688 Cytoplasmic (Potential). axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TGGCTGAACTCAGCATCTGTC 0.502 30 79 --- --- --- --- PASS ZNF384 171017 broad.mit.edu 37 12 6776898 6776898 + Silent SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr12:6776898C>T uc010sfh.1 - 11 1924 c.1716G>A c.(1714-1716)GAG>GAA p.E572E ZNF384_uc001qpz.2_Silent_p.E511E|ZNF384_uc001qqa.2_Silent_p.E511E|ZNF384_uc001qqb.2_Silent_p.E495E|ZNF384_uc001qqc.2_Silent_p.E511E|ZNF384_uc001qqd.2_Silent_p.E456E|ZNF384_uc001qqe.2_Silent_p.E495E NM_001135734 NP_001129206 Q8TF68 ZN384_HUMAN nuclear matrix transcription factor 4 isoform d 572 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/ZNF384(4) haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1) 8 TGGCCAGGTGCTCCACCTGGA 0.552 T EWSR1|TAF15 ALL 46 407 --- --- --- --- PASS ACSM4 341392 broad.mit.edu 37 12 7457012 7457012 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr12:7457012C>A uc001qsx.1 + 1 85 c.85C>A c.(85-87)CTT>ATT p.L29I NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 29 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding 0 AGATCACCAGCTTTGGACGCC 0.473 157 174 --- --- --- --- PASS A2ML1 144568 broad.mit.edu 37 12 9010650 9010650 + Silent SNP C G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr12:9010650C>G uc001quz.3 + 26 3314 c.3216C>G c.(3214-3216)CCC>CCG p.P1072P A2ML1_uc001qva.1_Silent_p.P652P|A2ML1_uc010sgm.1_Silent_p.P572P NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 916 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 ACCAGCTCCCCAGTGGCTGCT 0.522 95 73 --- --- --- --- PASS ITPR2 3709 broad.mit.edu 37 12 26868762 26868762 + Missense_Mutation SNP C G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr12:26868762C>G uc001rhg.2 - 7 1048 c.631G>C c.(631-633)GCT>CCT p.A211P NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 211 Cytoplasmic (Potential).|MIR 2. activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) CAATTGACAGCATTCACCTAT 0.328 23 95 --- --- --- --- PASS NELL2 4753 broad.mit.edu 37 12 44913981 44913981 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr12:44913981C>A uc001rog.2 - 19 2802 c.2207G>T c.(2206-2208)TGC>TTC p.C736F NELL2_uc001rof.3_Missense_Mutation_p.C735F|NELL2_uc001roh.2_Missense_Mutation_p.C736F|NELL2_uc009zkd.2_Missense_Mutation_p.C688F|NELL2_uc010skz.1_Missense_Mutation_p.C786F|NELL2_uc010sla.1_Missense_Mutation_p.C759F NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 736 VWFC 4. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) CACATCTGGGCAAGGCAGGGG 0.557 7 46 --- --- --- --- PASS NELL2 4753 broad.mit.edu 37 12 45097609 45097609 + Silent SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr12:45097609G>A uc001rog.2 - 12 1813 c.1218C>T c.(1216-1218)AAC>AAT p.N406N NELL2_uc001rof.3_Silent_p.N405N|NELL2_uc001roh.2_Silent_p.N406N|NELL2_uc009zkd.2_Silent_p.N405N|NELL2_uc010skz.1_Silent_p.N456N|NELL2_uc010sla.1_Silent_p.N429N|NELL2_uc001roi.1_Silent_p.N406N|NELL2_uc010slb.1_Silent_p.N405N|NELL2_uc001roj.2_Silent_p.N406N NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 406 EGF-like 1. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TCTCCATGCAGTTATGCCTTT 0.353 42 74 --- --- --- --- PASS VDR 7421 broad.mit.edu 37 12 48238763 48238763 + Silent SNP C T T rs4987032 TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr12:48238763C>T uc001rqm.2 - 11 1332 c.1050G>A c.(1048-1050)GCG>GCA p.A350A VDR_uc001rql.2_Silent_p.A400A|VDR_uc001rqn.2_Silent_p.A350A|VDR_uc010slq.1_Silent_p.A318A NM_001017535 NP_001017535 P11473 VDR_HUMAN vitamin D (1,25-dihydroxyvitamin D3) receptor 350 Ligand-binding. decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214) GBM - Glioblastoma multiforme(48;0.17) Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) CCTCAATCAGCGCGGCGTCCT 0.652 20 125 --- --- --- --- PASS COL2A1 1280 broad.mit.edu 37 12 48371186 48371186 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr12:48371186C>A uc001rqu.2 - 46 3371 c.3190G>T c.(3190-3192)GTG>TTG p.V1064L COL2A1_uc001rqt.2_5'Flank|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.V995L NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 1064 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) GGAGCTCCCACAGCACCAGTC 0.582 14 34 --- --- --- --- PASS DDX23 9416 broad.mit.edu 37 12 49230390 49230390 + Missense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr12:49230390G>A uc001rsm.2 - 10 1289 c.1198C>T c.(1198-1200)CCA>TCA p.P400S NM_004818 NP_004809 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 400 Q motif. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding kidney(3)|ovary(1)|lung(1)|skin(1) 6 AAGATGTGTGGGGGCAGAGAA 0.512 35 204 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49431142 49431142 + Nonsense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr12:49431142G>A uc001rta.3 - 34 9997 c.9997C>T c.(9997-9999)CAG>TAG p.Q3333* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 3333 Gln-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GCTGGTGGCTGGGTGGGCATC 0.617 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 12 15 --- --- --- --- PASS TUBA1A 7846 broad.mit.edu 37 12 49579509 49579509 + Missense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr12:49579509G>A uc009zlf.2 - 4 912 c.640C>T c.(640-642)CGT>TGT p.R214C TUBA1B_uc001rto.2_Intron|TUBA1A_uc001rtp.2_Missense_Mutation_p.R214C|TUBA1A_uc001rtq.2_Missense_Mutation_p.R61C|TUBA1A_uc001rtr.2_Missense_Mutation_p.R61C|TUBA1A_uc009zlg.2_Missense_Mutation_p.R61C NM_006009 NP_006000 Q71U36 TBA1A_HUMAN tubulin, alpha 1a 214 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|structural molecule activity 0 AGGTTTCTACGACAGATGTCA 0.473 65 161 --- --- --- --- PASS SPATS2 65244 broad.mit.edu 37 12 49918540 49918540 + Missense_Mutation SNP G C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr12:49918540G>C uc001rud.2 + 13 2176 c.1187G>C c.(1186-1188)AGT>ACT p.S396T SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Missense_Mutation_p.S396T|SPATS2_uc001ruf.2_Missense_Mutation_p.S396T|SPATS2_uc001rug.2_Missense_Mutation_p.S396T NM_023071 NP_075559 Q86XZ4 SPAS2_HUMAN spermatogenesis associated, serine-rich 2 396 Ser-rich. cytoplasm breast(1) 1 AGTAGCCCAAGTGATGCCTCT 0.478 34 216 --- --- --- --- PASS MCRS1 10445 broad.mit.edu 37 12 49958314 49958314 + Silent SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr12:49958314C>A uc001ruk.1 - 6 698 c.507G>T c.(505-507)CGG>CGT p.R169R MCRS1_uc001rui.1_Silent_p.R182R|MCRS1_uc001ruj.1_Silent_p.R156R|MCRS1_uc001rul.1_Silent_p.R169R|MCRS1_uc009zlj.1_5'UTR|MCRS1_uc001rum.1_Silent_p.R156R|MCRS1_uc001run.1_Silent_p.R169R NM_006337 NP_006328 Q96EZ8 MCRS1_HUMAN microspherule protein 1 isoform 1 169 DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|MLL1 complex|nucleolus protein binding large_intestine(1) 1 CCTGGACCTCCCGAAGGGTGA 0.597 9 30 --- --- --- --- PASS ANKRD52 283373 broad.mit.edu 37 12 56648716 56648716 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr12:56648716G>T uc001skm.3 - 6 573 c.483C>A c.(481-483)AAC>AAA p.N161K ANKRD52_uc001skn.1_RNA NM_173595 NP_775866 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 161 ANK 5. protein binding ovary(2) 2 TGGCTCCCTTGTTGAGGAGCA 0.498 15 124 --- --- --- --- PASS PTPRR 5801 broad.mit.edu 37 12 71050497 71050497 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr12:71050497G>T uc001swi.1 - 13 2283 c.1867C>A c.(1867-1869)CTT>ATT p.L623I PTPRR_uc001swf.1_RNA|PTPRR_uc001swg.1_RNA|PTPRR_uc001swh.1_Missense_Mutation_p.L378I|PTPRR_uc009zrs.2_Missense_Mutation_p.L472I|PTPRR_uc010stq.1_Missense_Mutation_p.L511I NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 623 Tyrosine-protein phosphatase.|Cytoplasmic (Potential). in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) TCCATACGAAGCTGGCAGACA 0.458 45 212 --- --- --- --- PASS RAB21 23011 broad.mit.edu 37 12 72176356 72176356 + Silent SNP A T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr12:72176356A>T uc001swt.2 + 6 705 c.453A>T c.(451-453)GCA>GCT p.A151A NM_014999 NP_055814 Q9UL25 RAB21_HUMAN RAB21, member RAS oncogene family 151 protein transport|small GTPase mediated signal transduction cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane|Golgi membrane GDP binding|GTP binding|GTPase activity|protein binding 0 TAAGGTATGCAGAATCTGTGG 0.299 27 73 --- --- --- --- PASS TPH2 121278 broad.mit.edu 37 12 72332809 72332809 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr12:72332809C>T uc009zrw.1 + 1 184 c.43C>T c.(43-45)CGG>TGG p.R15W TPH2_uc001swy.2_5'Flank NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 15 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity ovary(2)|central_nervous_system(1)|skin(1) 4 L-Tryptophan(DB00150) ATACTGGGCACGGAGAGGGTT 0.498 OREG0021996 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 126 --- --- --- --- PASS DUSP6 1848 broad.mit.edu 37 12 89745570 89745570 + Missense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr12:89745570G>A uc001tay.2 - 1 727 c.247C>T c.(247-249)CGG>TGG p.R83W DUSP6_uc001taz.2_Missense_Mutation_p.R83W NM_001946 NP_001937 Q16828 DUS6_HUMAN dual specificity phosphatase 6 isoform a 83 Rhodanese. dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 AAGCGGTCCCGGTCCTCGCCG 0.682 8 13 --- --- --- --- PASS KERA 11081 broad.mit.edu 37 12 91449570 91449570 + Silent SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr12:91449570G>A uc001tbl.2 - 2 1108 c.489C>T c.(487-489)AGC>AGT p.S163S NM_007035 NP_008966 O60938 KERA_HUMAN keratocan precursor 163 LRR 4. response to stimulus|visual perception proteinaceous extracellular matrix skin(1) 1 TCTCCAGATTGCTAAAGGTCC 0.403 53 296 --- --- --- --- PASS UHRF1BP1L 23074 broad.mit.edu 37 12 100453798 100453798 + Nonsense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr12:100453798G>A uc001tgq.2 - 13 1802 c.1573C>T c.(1573-1575)CAG>TAG p.Q525* UHRF1BP1L_uc001tgp.2_Nonsense_Mutation_p.Q175* NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 525 ovary(2) 2 GCATTCAGCTGGCTATAGAGG 0.343 30 82 --- --- --- --- PASS ACAD10 80724 broad.mit.edu 37 12 112191650 112191650 + Silent SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr12:112191650C>T uc001tsq.2 + 19 3092 c.2892C>T c.(2890-2892)CGC>CGT p.R964R ACAD10_uc009zvx.2_Silent_p.R995R|ACAD10_uc001tss.1_Intron NM_025247 NP_079523 Q6JQN1 ACD10_HUMAN acyl-Coenzyme A dehydrogenase family, member 10 964 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups ovary(2) 2 CGCAGTCGCGCGTGGAGATTG 0.657 OREG0022130 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 40 --- --- --- --- PASS BCL7A 605 broad.mit.edu 37 12 122481907 122481907 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr12:122481907G>T uc001ubp.2 + 4 524 c.387G>T c.(385-387)GAG>GAT p.E129D BCL7A_uc001ubo.2_Missense_Mutation_p.E129D NM_001024808 NP_001019979 Q4VC05 BCL7A_HUMAN B-cell CLL/lymphoma 7A isoform b 129 negative regulation of transcription, DNA-dependent ovary(1)|lung(1) 2 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231) ACGGCACCGAGGCCAAGGTGG 0.647 T MYC BNHL 25 136 --- --- --- --- PASS KNTC1 9735 broad.mit.edu 37 12 123089137 123089137 + Missense_Mutation SNP T C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr12:123089137T>C uc001ucv.2 + 49 5291 c.5128T>C c.(5128-5130)TTC>CTC p.F1710L KNTC1_uc010taf.1_Intron NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 1710 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TGCTTTGAAATTCTGCCTTTA 0.318 16 54 --- --- --- --- PASS SLC15A4 121260 broad.mit.edu 37 12 129285415 129285415 + Missense_Mutation SNP G C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr12:129285415G>C uc001uhu.2 - 6 1451 c.1398C>G c.(1396-1398)ATC>ATG p.I466M SLC15A4_uc001uhv.2_RNA NM_145648 NP_663623 Q8N697 S15A4_HUMAN solute carrier family 15, member 4 466 Helical; (Potential). oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05) TACTTGCAAAGATCTCGCTGA 0.542 26 74 --- --- --- --- PASS PIWIL1 9271 broad.mit.edu 37 12 130827641 130827641 + Nonsense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr12:130827641C>A uc001uik.2 + 3 275 c.185C>A c.(184-186)TCA>TAA p.S62* PIWIL1_uc001uij.1_Nonsense_Mutation_p.S62* NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 62 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) ACAGCCAAGTCACAAGGTGAA 0.433 20 44 --- --- --- --- PASS ATP12A 479 broad.mit.edu 37 13 25280467 25280467 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr13:25280467G>T uc001upp.2 + 15 2222 c.2035G>T c.(2035-2037)GTG>TTG p.V679L ATP12A_uc010aaa.2_Missense_Mutation_p.V685L NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 679 Cytoplasmic (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) CAAGGCCGCTGTGGTGACTGG 0.557 16 81 --- --- --- --- PASS NBEA 26960 broad.mit.edu 37 13 35672485 35672485 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr13:35672485G>T uc001uvb.2 + 12 1829 c.1623G>T c.(1621-1623)ATG>ATT p.M541I NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 541 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CAGTAGCCATGCAAGAACAGA 0.368 6 9 --- --- --- --- PASS STOML3 161003 broad.mit.edu 37 13 39541076 39541076 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr13:39541076G>T uc001uwx.2 - 7 900 c.762C>A c.(760-762)AGC>AGA p.S254R STOML3_uc010tez.1_Missense_Mutation_p.S245R NM_145286 NP_660329 Q8TAV4 STML3_HUMAN stomatin-like 3 isoform 1 254 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(1) 1 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) TGGCTACCGTGCTCAAGGTCT 0.507 38 81 --- --- --- --- PASS C13orf23 80209 broad.mit.edu 37 13 39596551 39596551 + Splice_Site SNP T A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr13:39596551T>A uc001uwy.2 - 9 1517 c.644_splice c.e9-1 p.S215_splice C13orf23_uc001uwz.2_Splice_Site_p.S193_splice NM_025138 NP_079414 Q86XN7 CM023_HUMAN hypothetical protein LOC80209 isoform 1 ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1) 5 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146) TATAAGCACCTAAAATAAAAA 0.363 46 117 --- --- --- --- PASS GPC5 2262 broad.mit.edu 37 13 92380805 92380805 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr13:92380805G>T uc010tif.1 + 4 1406 c.1040G>T c.(1039-1041)CGC>CTC p.R347L NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 347 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) ATTTGTGGCCGCCCTGTAAGA 0.418 63 137 --- --- --- --- PASS UGGT2 55757 broad.mit.edu 37 13 96555254 96555254 + Nonsense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr13:96555254C>A uc001vmt.2 - 21 2526 c.2356G>T c.(2356-2358)GAG>TAG p.E786* NM_020121 NP_064506 Q9NYU1 UGGG2_HUMAN UDP-glucose ceramide glucosyltransferase-like 2 786 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity ovary(2)|central_nervous_system(1) 3 GCTGTGTTCTCTTCATTTATT 0.338 43 100 --- --- --- --- PASS OR11H4 390442 broad.mit.edu 37 14 20711839 20711839 + Missense_Mutation SNP C G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr14:20711839C>G uc010tld.1 + 1 889 c.889C>G c.(889-891)CCT>GCT p.P297A NM_001004479 NP_001004479 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, 297 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) TCTTTTTAATCCTCTGATCTA 0.398 33 161 --- --- --- --- PASS MYH6 4624 broad.mit.edu 37 14 23873957 23873957 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr14:23873957C>T uc001wjv.2 - 7 672 c.605G>A c.(604-606)GGT>GAT p.G202D MYH6_uc010akp.1_Missense_Mutation_p.G202D NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 202 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GCCACGGTCACCTATGGCTGC 0.592 16 53 --- --- --- --- PASS C14orf28 122525 broad.mit.edu 37 14 45373614 45373614 + Nonsense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr14:45373614G>T uc001wvo.2 + 4 897 c.631G>T c.(631-633)GAA>TAA p.E211* C14orf28_uc001wvp.1_Nonsense_Mutation_p.E211* NM_001017923 NP_001017923 Q4W4Y0 CN028_HUMAN hypothetical protein LOC122525 211 ovary(1) 1 TGGCTTAAGAGAATTTTCCCA 0.388 45 253 --- --- --- --- PASS SOS2 6655 broad.mit.edu 37 14 50623787 50623787 + Nonsense_Mutation SNP T A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr14:50623787T>A uc001wxs.3 - 12 2085 c.1987A>T c.(1987-1989)AAA>TAA p.K663* SOS2_uc010tql.1_Nonsense_Mutation_p.K630*|SOS2_uc010tqm.1_RNA|SOS2_uc001wxt.2_Nonsense_Mutation_p.K351* NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 663 N-terminal Ras-GEF. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) TGCTCGCCTTTCTCTATTGCC 0.363 13 52 --- --- --- --- PASS C14orf101 54916 broad.mit.edu 37 14 57052579 57052579 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr14:57052579G>T uc001xcm.2 + 3 415 c.293G>T c.(292-294)TGT>TTT p.C98F C14orf101_uc001xcj.2_RNA|C14orf101_uc001xck.2_Missense_Mutation_p.C98F|C14orf101_uc010aot.1_Missense_Mutation_p.C98F|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_5'UTR NM_017799 NP_060269 Q9NX78 CN101_HUMAN hypothetical protein LOC54916 98 Helical; (Potential). integral to membrane breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(311;0.226) AATCTTCTCTGTGGCTTATTT 0.413 31 225 --- --- --- --- PASS GALNTL1 57452 broad.mit.edu 37 14 69813862 69813862 + Silent SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr14:69813862C>A uc010aqu.1 + 13 1470 c.1377C>A c.(1375-1377)ATC>ATA p.I459I GALNTL1_uc001xla.1_Silent_p.I459I|GALNTL1_uc001xlb.1_Silent_p.I459I NM_020692 NP_065743 Q8N428 GLTL1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 459 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(1)|central_nervous_system(1) 2 all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656) GAATGGGGATCTGCAGAGGGT 0.592 OREG0022763 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 64 --- --- --- --- PASS LTBP2 4053 broad.mit.edu 37 14 75017795 75017795 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr14:75017795C>A uc001xqa.2 - 7 2045 c.1658G>T c.(1657-1659)CGG>CTG p.R553L NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 553 TB 1. protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CAGGTAACACCGGCCCAGCAG 0.637 12 73 --- --- --- --- PASS ISM2 145501 broad.mit.edu 37 14 77944917 77944917 + Splice_Site SNP C G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr14:77944917C>G uc001xtz.2 - 5 1188 c.1114_splice c.e5+1 p.G372_splice ISM2_uc001xua.2_Splice_Site_p.L256_splice|ISM2_uc001xty.2_Splice_Site_p.G284_splice|ISM2_uc010tvl.1_Splice_Site_p.G291_splice NM_199296 NP_954993 Q6H9L7 ISM2_HUMAN isthmin 2 homolog isoform 1 extracellular region skin(1) 1 GCTCATCTCACCAGGACAGGA 0.637 26 73 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102504837 102504837 + Missense_Mutation SNP A T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr14:102504837A>T uc001yks.2 + 58 11113 c.10949A>T c.(10948-10950)AAC>ATC p.N3650I NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 3650 AAA 5 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 CCGGTGCTGAACCGTGAAGTG 0.537 15 91 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105417279 105417279 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr14:105417279G>T uc010axc.1 - 7 4629 c.4509C>A c.(4507-4509)TTC>TTA p.F1503L AHNAK2_uc001ypx.2_Missense_Mutation_p.F1403L NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1503 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) CAGACACCCCGAACGACGGCA 0.602 11 91 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106453066 106453066 + RNA SNP G T T rs113318051 TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr14:106453066G>T uc010tyt.1 - 1974 c.37773C>A Parts of antibodies, mostly variable regions. 0 CTTACCTGTGGCTGCTGCCAC 0.552 30 37 --- --- --- --- PASS SNRPN 6638 broad.mit.edu 37 15 25222129 25222129 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr15:25222129G>T uc001ywp.1 + 10 1263 c.373G>T c.(373-375)GCT>TCT p.A125S SNRPN_uc001ywq.1_Missense_Mutation_p.A125S|SNRPN_uc001ywr.1_Missense_Mutation_p.A125S|SNRPN_uc001yws.1_Missense_Mutation_p.A125S|SNRPN_uc001ywt.1_Missense_Mutation_p.A125S|SNRPN_uc001ywv.1_Missense_Mutation_p.A128S|SNRPN_uc001yww.1_Missense_Mutation_p.A125S|SNRPN_uc001ywx.1_Missense_Mutation_p.A125S|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR NM_022807 NP_073718 P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N 125 RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex identical protein binding|RNA binding ovary(1) 1 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) CCAGGCCCCTGCTGGATTGGC 0.587 Prader-Willi_syndrome 22 97 --- --- --- --- PASS OCA2 4948 broad.mit.edu 37 15 28116342 28116342 + Silent SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr15:28116342C>A uc001zbh.3 - 21 2312 c.2202G>T c.(2200-2202)CTG>CTT p.L734L OCA2_uc010ayv.2_Silent_p.L710L NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 734 Helical; (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GGGACGACGCCAGGGCTGAGA 0.577 Oculocutaneous_Albinism 6 77 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33925293 33925293 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr15:33925293C>A uc001zhi.2 + 24 3081 c.3011C>A c.(3010-3012)ACC>AAC p.T1004N RYR3_uc010bar.2_Missense_Mutation_p.T1004N NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1004 2.|4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CAAGGATGGACCTATGGCATC 0.413 12 70 --- --- --- --- PASS LTK 4058 broad.mit.edu 37 15 41796998 41796998 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr15:41796998C>T uc001zoa.3 - 17 2271 c.2093G>A c.(2092-2094)GGC>GAC p.G698D LTK_uc001zob.3_Missense_Mutation_p.G637D|LTK_uc010ucx.1_Missense_Mutation_p.G568D|LTK_uc010bcg.2_Missense_Mutation_p.G396D NM_002344 NP_002335 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase isoform 1 698 Protein kinase.|Cytoplasmic (Potential). apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|central_nervous_system(1) 7 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) TGTGAAGATGCCCTCCAGGAA 0.597 TSP Lung(18;0.14) 14 103 --- --- --- --- PASS TYRO3 7301 broad.mit.edu 37 15 41865899 41865899 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr15:41865899G>T uc001zof.1 + 18 2392 c.2168G>T c.(2167-2169)TGG>TTG p.W723L NM_006293 NP_006284 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase precursor 723 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity ovary(3)|lung(2)|central_nervous_system(1) 6 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) GTGACCATGTGGGAGATCATG 0.572 19 207 --- --- --- --- PASS TYRO3 7301 broad.mit.edu 37 15 41865900 41865900 + Missense_Mutation SNP G T T rs138665905 TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr15:41865900G>T uc001zof.1 + 18 2393 c.2169G>T c.(2167-2169)TGG>TGT p.W723C NM_006293 NP_006284 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase precursor 723 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity ovary(3)|lung(2)|central_nervous_system(1) 6 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) TGACCATGTGGGAGATCATGA 0.572 19 206 --- --- --- --- PASS PLA2G4F 255189 broad.mit.edu 37 15 42439472 42439472 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr15:42439472C>A uc001zoz.2 - 13 1332 c.1269G>T c.(1267-1269)CAG>CAT p.Q423H PLA2G4F_uc010bcq.2_5'Flank|PLA2G4F_uc001zoy.2_Missense_Mutation_p.Q55H|PLA2G4F_uc010bcr.2_Missense_Mutation_p.Q174H|PLA2G4F_uc001zpa.2_Missense_Mutation_p.Q174H|PLA2G4F_uc010bcs.2_Missense_Mutation_p.Q210H NM_213600 NP_998765 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 423 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity ovary(4) 4 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) AGACGTGAACCTGGGCACGCT 0.622 17 89 --- --- --- --- PASS USP50 373509 broad.mit.edu 37 15 50822029 50822029 + Missense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr15:50822029G>A uc001zyq.3 - 6 1096 c.916C>T c.(916-918)CGG>TGG p.R306W NM_203494 NP_987090 E9PP86 E9PP86_HUMAN ubiquitin specific protease 50 301 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity lung(1)|breast(1) 2 all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288) GGATATTTCCGGAAAATTGAG 0.368 15 102 --- --- --- --- PASS RNF111 54778 broad.mit.edu 37 15 59344503 59344503 + Splice_Site SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr15:59344503G>A uc002afv.2 + 3 1160 c.881_splice c.e3-1 p.G294_splice RNF111_uc002afs.2_Splice_Site_p.G294_splice|RNF111_uc002aft.2_Splice_Site_p.G294_splice|RNF111_uc002afu.2_Splice_Site_p.G294_splice|RNF111_uc002afw.2_Splice_Site_p.G294_splice NM_017610 NP_060080 Q6ZNA4 RN111_HUMAN ring finger protein 111 multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 all cancers(107;0.194) TTTGTTTCCAGGAAGTATTGA 0.368 35 170 --- --- --- --- PASS ISLR2 57611 broad.mit.edu 37 15 74425284 74425284 + Silent SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr15:74425284C>T uc002axd.2 + 4 958 c.189C>T c.(187-189)ATC>ATT p.I63I ISLR2_uc002axe.2_Silent_p.I63I|ISLR2_uc010bjg.2_Silent_p.I63I|ISLR2_uc010bjf.2_Silent_p.I63I NM_001130136 NP_001123608 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing 63 LRR 1.|Extracellular (Potential). positive regulation of axon extension cell surface|integral to membrane|plasma membrane 0 CGAACAAGATCACTGTGCTGC 0.647 26 104 --- --- --- --- PASS ISLR2 57611 broad.mit.edu 37 15 74425431 74425431 + Silent SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr15:74425431C>T uc002axd.2 + 4 1105 c.336C>T c.(334-336)TCC>TCT p.S112S ISLR2_uc002axe.2_Silent_p.S112S|ISLR2_uc010bjg.2_Silent_p.S112S|ISLR2_uc010bjf.2_Silent_p.S112S NM_001130136 NP_001123608 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing 112 LRR 3.|Extracellular (Potential). positive regulation of axon extension cell surface|integral to membrane|plasma membrane 0 ACTTCATATCCAGCTTTCCGT 0.637 16 136 --- --- --- --- PASS ISLR2 57611 broad.mit.edu 37 15 74425535 74425535 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr15:74425535C>T uc002axd.2 + 4 1209 c.440C>T c.(439-441)CCC>CTC p.P147L ISLR2_uc002axe.2_Missense_Mutation_p.P147L|ISLR2_uc010bjg.2_Missense_Mutation_p.P147L|ISLR2_uc010bjf.2_Missense_Mutation_p.P147L NM_001130136 NP_001123608 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing 147 Extracellular (Potential). positive regulation of axon extension cell surface|integral to membrane|plasma membrane 0 GGTGCGCTACCCGACCTGCGT 0.637 15 117 --- --- --- --- PASS ISLR2 57611 broad.mit.edu 37 15 74425602 74425602 + Silent SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr15:74425602G>T uc002axd.2 + 4 1276 c.507G>T c.(505-507)GCG>GCT p.A169A ISLR2_uc002axe.2_Silent_p.A169A|ISLR2_uc010bjg.2_Silent_p.A169A|ISLR2_uc010bjf.2_Silent_p.A169A NM_001130136 NP_001123608 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing 169 Extracellular (Potential).|LRR 5. positive regulation of axon extension cell surface|integral to membrane|plasma membrane 0 CCTTCGACGCGCTTAGCGCGC 0.667 50 127 --- --- --- --- PASS ISLR2 57611 broad.mit.edu 37 15 74425682 74425682 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr15:74425682C>T uc002axd.2 + 4 1356 c.587C>T c.(586-588)GCC>GTC p.A196V ISLR2_uc002axe.2_Missense_Mutation_p.A196V|ISLR2_uc010bjg.2_Missense_Mutation_p.A196V|ISLR2_uc010bjf.2_Missense_Mutation_p.A196V NM_001130136 NP_001123608 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing 196 Extracellular (Potential).|LRRCT. positive regulation of axon extension cell surface|integral to membrane|plasma membrane 0 CAGGCCTGGGCCGCGAGCACC 0.692 13 141 --- --- --- --- PASS ISLR2 57611 broad.mit.edu 37 15 74425689 74425689 + Silent SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr15:74425689C>T uc002axd.2 + 4 1363 c.594C>T c.(592-594)AGC>AGT p.S198S ISLR2_uc002axe.2_Silent_p.S198S|ISLR2_uc010bjg.2_Silent_p.S198S|ISLR2_uc010bjf.2_Silent_p.S198S NM_001130136 NP_001123608 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing 198 Extracellular (Potential).|LRRCT. positive regulation of axon extension cell surface|integral to membrane|plasma membrane 0 GGGCCGCGAGCACCCGGGTGT 0.682 13 142 --- --- --- --- PASS ISLR2 57611 broad.mit.edu 37 15 74425918 74425918 + Nonsense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr15:74425918C>T uc002axd.2 + 4 1592 c.823C>T c.(823-825)CAG>TAG p.Q275* ISLR2_uc002axe.2_Nonsense_Mutation_p.Q275*|ISLR2_uc010bjg.2_Nonsense_Mutation_p.Q275*|ISLR2_uc010bjf.2_Nonsense_Mutation_p.Q275* NM_001130136 NP_001123608 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing 275 Ig-like.|Extracellular (Potential). positive regulation of axon extension cell surface|integral to membrane|plasma membrane 0 ATGGCAACTTCAGATCCCCGG 0.463 5 69 --- --- --- --- PASS CYP1A1 1543 broad.mit.edu 37 15 75013047 75013047 + Missense_Mutation SNP T A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr15:75013047T>A uc002ayp.3 - 7 1444 c.1322A>T c.(1321-1323)AAG>ATG p.K441M CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Missense_Mutation_p.K177M|CYP1A1_uc010bjx.2_Missense_Mutation_p.K177M|CYP1A1_uc002ayq.3_Missense_Mutation_p.K441M|CYP1A1_uc010bjy.2_Missense_Mutation_p.K412M NM_000499 NP_000490 P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, 441 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity ovary(2)|breast(2)|pancreas(1) 5 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) ACTTAACACCTTGTCGATAGC 0.522 Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia 36 231 --- --- --- --- PASS ZSCAN2 54993 broad.mit.edu 37 15 85164479 85164479 + Silent SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr15:85164479G>A uc002bkr.2 + 3 1279 c.1053G>A c.(1051-1053)ACG>ACA p.T351T ZSCAN2_uc010bmz.1_Silent_p.T349T|ZSCAN2_uc010bna.2_Silent_p.T201T|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron NM_181877 NP_870992 Q7Z7L9 ZSCA2_HUMAN zinc finger protein 29 isoform 1 351 C2H2-type 5. cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22) GCCTTAACACGCATCAGGGGA 0.507 48 217 --- --- --- --- PASS WDR93 56964 broad.mit.edu 37 15 90286557 90286557 + Missense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr15:90286557G>A uc002boj.2 + 17 2097 c.1996G>A c.(1996-1998)GAG>AAG p.E666K WDR93_uc010bnr.2_Missense_Mutation_p.E638K|WDR93_uc010upz.1_Missense_Mutation_p.E383K NM_020212 NP_064597 Q6P2C0 WDR93_HUMAN WD repeat domain 93 666 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH ovary(2) 2 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) AGAGAAGGAGGAGGAGCACTG 0.587 5 129 --- --- --- --- PASS SEMA4B 10509 broad.mit.edu 37 15 90771643 90771643 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr15:90771643G>T uc002boy.2 + 15 2565 c.2282G>T c.(2281-2283)TGC>TTC p.C761F SEMA4B_uc002boz.2_Missense_Mutation_p.C761F|SEMA4B_uc010uqd.1_Missense_Mutation_p.C599F|SEMA4B_uc002bpa.2_Missense_Mutation_p.C599F|SEMA4B_uc010bnv.1_Intron NM_020210 NP_064595 semaphorin 4B precursor ovary(1)|breast(1)|kidney(1) 3 Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) CCCAAGACCTGCCCTGTGGTG 0.637 5 25 --- --- --- --- PASS BLM 641 broad.mit.edu 37 15 91312729 91312729 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr15:91312729C>T uc002bpr.2 + 12 2565 c.2468C>T c.(2467-2469)TCT>TTT p.S823F BLM_uc010uqh.1_Missense_Mutation_p.S823F|BLM_uc010uqi.1_Missense_Mutation_p.S448F|BLM_uc010bnx.2_Missense_Mutation_p.S823F|BLM_uc002bps.1_Missense_Mutation_p.S385F NM_000057 NP_000048 P54132 BLM_HUMAN Bloom syndrome protein 823 Helicase ATP-binding. double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding ovary(3)|skin(2)|breast(1) 6 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) AAGTTTCCTTCTGTTCCGGTG 0.438 Mis|N|F leukemia|lymphoma|skin squamous cell |other cancers Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Bloom_syndrome 13 162 --- --- --- --- PASS ADAMTS17 170691 broad.mit.edu 37 15 100871232 100871232 + Missense_Mutation SNP G C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr15:100871232G>C uc002bvv.1 - 3 557 c.478C>G c.(478-480)CAG>GAG p.Q160E ADAMTS17_uc002bvx.1_5'UTR NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 160 proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) ATTAGCACCTGCTCCTGCCCA 0.597 39 104 --- --- --- --- PASS LMF1 64788 broad.mit.edu 37 16 919971 919971 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr16:919971C>T uc002ckj.2 - 9 1332 c.1328G>A c.(1327-1329)TGC>TAC p.C443Y LMF1_uc010brg.2_5'Flank|LMF1_uc010brh.2_Missense_Mutation_p.C226Y|LMF1_uc010bri.2_Missense_Mutation_p.C206Y|LMF1_uc002ckk.2_Missense_Mutation_p.C226Y NM_022773 NP_073610 Q96S06 LMF1_HUMAN lipase maturation factor 1 443 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane 0 Hepatocellular(780;0.00308) ACCTGGCTTGCACTTGAACTC 0.662 19 30 --- --- --- --- PASS BAIAP3 8938 broad.mit.edu 37 16 1394641 1394641 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr16:1394641G>T uc002clk.1 + 19 1804 c.1804G>T c.(1804-1806)GAC>TAC p.D602Y BAIAP3_uc002clj.2_Missense_Mutation_p.D584Y|BAIAP3_uc010uuz.1_Missense_Mutation_p.D567Y|BAIAP3_uc010uva.1_Missense_Mutation_p.D539Y|BAIAP3_uc010uvc.1_Missense_Mutation_p.D531Y NM_003933 NP_003924 O94812 BAIP3_HUMAN BAI1-associated protein 3 602 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding pancreas(1) 1 Hepatocellular(780;0.0893) TGTGCTGGCTGACGCCGTCTA 0.647 94 226 --- --- --- --- PASS TBC1D24 57465 broad.mit.edu 37 16 2549416 2549416 + Missense_Mutation SNP A C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr16:2549416A>C uc002cql.2 + 5 1341 c.1201A>C c.(1201-1203)AAG>CAG p.K401Q TBC1D24_uc002cqk.2_Missense_Mutation_p.K395Q|TBC1D24_uc002cqm.2_Intron|TBC1D24_uc010bsm.2_Intron NM_020705 NP_065756 Q9ULP9 TBC24_HUMAN TBC1 domain family, member 24 401 TLD. neuron projection development cytoplasm protein binding|Rab GTPase activator activity 0 GACCACGCAGAAGGAGGTGAG 0.622 6 22 --- --- --- --- PASS CIITA 4261 broad.mit.edu 37 16 10996530 10996530 + Missense_Mutation SNP C G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr16:10996530C>G uc002dai.3 + 8 777 c.644C>G c.(643-645)TCC>TGC p.S215C CIITA_uc002daj.3_Missense_Mutation_p.S216C|CIITA_uc002dak.3_Missense_Mutation_p.S166C|CIITA_uc002dag.2_Missense_Mutation_p.S215C|CIITA_uc002dah.2_Missense_Mutation_p.S167C|CIITA_uc010bup.1_Missense_Mutation_p.S215C NM_000246 NP_000237 P33076 C2TA_HUMAN class II transactivator 215 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1) 1 TTCTCCAGTTCCTCGTTGAGC 0.468 T FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75 PMBL|Hodgkin Lymphona| 30 73 --- --- --- --- PASS LITAF 9516 broad.mit.edu 37 16 11650373 11650373 + Missense_Mutation SNP T A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr16:11650373T>A uc002daz.2 - 2 447 c.214A>T c.(214-216)AAT>TAT p.N72Y LITAF_uc002dba.2_Missense_Mutation_p.N72Y|LITAF_uc002dbb.2_Missense_Mutation_p.N72Y|LITAF_uc002dbc.2_Missense_Mutation_p.N72Y|LITAF_uc002dbd.2_Missense_Mutation_p.N72Y|LITAF_uc002dbe.3_Missense_Mutation_p.N72Y NM_004862 NP_004853 Q99732 LITAF_HUMAN lipopolysaccharide-induced TNF-alpha factor 72 apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|lysosomal membrane signal transducer activity|WW domain binding liver(1) 1 GTACTTGGATTGTTATTGGGG 0.577 8 52 --- --- --- --- PASS TMC5 79838 broad.mit.edu 37 16 19475265 19475265 + Silent SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr16:19475265C>T uc002dgc.3 + 8 2153 c.1404C>T c.(1402-1404)TTC>TTT p.F468F TMC5_uc010vaq.1_Silent_p.F468F|TMC5_uc002dgb.3_Silent_p.F468F|TMC5_uc010var.1_Silent_p.F468F|TMC5_uc002dgd.1_Silent_p.F222F|TMC5_uc002dge.3_Silent_p.F222F|TMC5_uc002dgf.3_Silent_p.F151F|TMC5_uc002dgg.3_Silent_p.F109F NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 isoform a 468 Helical; (Potential). integral to membrane skin(1) 1 TCCTGAACTTCAGCTTCATCA 0.458 8 134 --- --- --- --- PASS ACSM2A 123876 broad.mit.edu 37 16 20471532 20471532 + Silent SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr16:20471532C>A uc010bwe.2 + 3 335 c.96C>A c.(94-96)TCC>TCA p.S32S ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Intron|ACSM2A_uc002dhf.3_Silent_p.S32S|ACSM2A_uc002dhg.3_Silent_p.S32S|ACSM2A_uc010vay.1_Intron NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 32 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 AACTGGTGTCCCTGCAGTGGG 0.512 47 78 --- --- --- --- PASS SCNN1G 6340 broad.mit.edu 37 16 23208724 23208724 + Missense_Mutation SNP G C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr16:23208724G>C uc002dlm.1 + 6 1192 c.1053G>C c.(1051-1053)ATG>ATC p.M351I NM_001039 NP_001030 P51170 SCNNG_HUMAN sodium channel, nonvoltage-gated 1, gamma 351 Extracellular (By similarity). excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) AGACAGCAATGGTCACCTCTA 0.463 17 69 --- --- --- --- PASS HS3ST4 9951 broad.mit.edu 37 16 26147398 26147398 + Silent SNP A T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr16:26147398A>T uc002dof.2 + 2 1592 c.1200A>T c.(1198-1200)CCA>CCT p.P400P NM_006040 NP_006031 Q9Y661 HS3S4_HUMAN heparan sulfate D-glucosaminyl 400 Lumenal (Potential). heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity large_intestine(1)|breast(1) 2 GBM - Glioblastoma multiforme(48;0.0988) TAAAGAAGCCAGAAGACAGCA 0.473 18 53 --- --- --- --- PASS MMP15 4324 broad.mit.edu 37 16 58077461 58077461 + Silent SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr16:58077461C>T uc002ena.2 + 9 2473 c.1500C>T c.(1498-1500)TAC>TAT p.Y500Y NM_002428 NP_002419 P51511 MMP15_HUMAN matrix metalloproteinase 15 preproprotein 500 Hemopexin-like 3.|Extracellular (Potential). protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding central_nervous_system(2)|breast(1) 3 ACCCTGGGTACCCCAAGCCCA 0.617 7 58 --- --- --- --- PASS RANBP10 57610 broad.mit.edu 37 16 67765377 67765377 + Missense_Mutation SNP T G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr16:67765377T>G uc002eud.2 - 7 1003 c.887A>C c.(886-888)CAA>CCA p.Q296P RANBP10_uc010ceo.2_Missense_Mutation_p.Q67P|RANBP10_uc010vju.1_Missense_Mutation_p.Q240P|RANBP10_uc010vjv.1_Missense_Mutation_p.Q179P|RANBP10_uc010vjw.1_5'Flank|RANBP10_uc010vjx.1_Missense_Mutation_p.Q296P|RANBP10_uc010vjy.1_Missense_Mutation_p.Q164P NM_020850 NP_065901 Q6VN20 RBP10_HUMAN RAN binding protein 10 296 CTLH. ovary(1) 1 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) AACCTTACTTTGTCTGTTCTT 0.488 17 68 --- --- --- --- PASS DPEP3 64180 broad.mit.edu 37 16 68012234 68012234 + Silent SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr16:68012234G>A uc002evc.3 - 4 791 c.697C>T c.(697-699)CTG>TTG p.L233L DPEP3_uc010cex.2_Silent_p.L233L NM_022357 NP_071752 Q9H4B8 DPEP3_HUMAN dipeptidase 3 isoform a 208 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(3) 3 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) AAACTGCGCAGCACAGAGAGG 0.552 10 97 --- --- --- --- PASS CDH1 999 broad.mit.edu 37 16 68835620 68835620 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr16:68835620C>T uc002ewg.1 + 3 335 c.211C>T c.(211-213)CTC>TTC p.L71F CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.L71F NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 71 SL -> P (in Ref. 3; AAA61259). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) CTATTTTTCCCTCGACACCCG 0.458 Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer 41 198 --- --- --- --- PASS CHST5 23563 broad.mit.edu 37 16 75563353 75563353 + Nonsense_Mutation SNP G C C rs146332168 byFrequency TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr16:75563353G>C uc002fei.2 - 3 2325 c.930C>G c.(928-930)TAC>TAG p.Y310* CHST5_uc002fej.1_Nonsense_Mutation_p.Y316* NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) 310 Lumenal (Potential). N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 CGGTGAAGGCGTAGAGTGCGC 0.677 17 86 --- --- --- --- PASS BCMO1 53630 broad.mit.edu 37 16 81314536 81314536 + Silent SNP A G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr16:81314536A>G uc002fgn.1 + 8 1394 c.1176A>G c.(1174-1176)CAA>CAG p.Q392Q BCMO1_uc010vnp.1_Silent_p.Q323Q NM_017429 NP_059125 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 392 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity 0 AAGATGGCCAAGTCTACTGCC 0.443 4 57 --- --- --- --- PASS DPEP1 1800 broad.mit.edu 37 16 89704357 89704357 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr16:89704357G>T uc010cin.2 + 10 1246 c.1043G>T c.(1042-1044)AGG>ATG p.R348M DPEP1_uc002fnr.3_Missense_Mutation_p.R348M|DPEP1_uc002fns.3_Missense_Mutation_p.R348M NM_001128141 NP_001121613 P16444 DPEP1_HUMAN dipeptidase 1 precursor 348 proteolysis anchored to membrane|apical plasma membrane|microvillus membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding large_intestine(1) 1 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) AACCTGCTGAGGGTCTTCGAG 0.642 4 25 --- --- --- --- PASS PITPNA 5306 broad.mit.edu 37 17 1438521 1438521 + Missense_Mutation SNP G C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr17:1438521G>C uc002fst.3 - 8 856 c.600C>G c.(598-600)TTC>TTG p.F200L PITPNA_uc010cjt.2_Missense_Mutation_p.F84L|PITPNA_uc010cju.2_Missense_Mutation_p.F98L NM_006224 NP_006215 Q00169 PIPNA_HUMAN phosphatidylinositol transfer protein, alpha 200 axon guidance|lipid metabolic process|visual perception cytoplasm phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0845) CCCACCACTTGAACTTGACGG 0.502 18 85 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578190 7578190 + Missense_Mutation SNP T C C rs121912666 TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr17:7578190T>C uc002gim.2 - 6 853 c.659A>G c.(658-660)TAT>TGT p.Y220C TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.2_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.1_Missense_Mutation_p.Y181C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 220 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y220C(205)|p.Y220N(12)|p.Y220H(9)|p.Y220S(9)|p.0?(7)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(2)|p.Y127C(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.?(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(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) AGGCGGCTCATAGGGCACCAC 0.557 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 42 --- --- --- --- PASS TRIM16 10626 broad.mit.edu 37 17 15532053 15532053 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr17:15532053C>T uc002gox.2 - 9 2128 c.1571G>A c.(1570-1572)TGC>TAC p.C524Y TRIM16_uc002gor.1_Intron|TRIM16_uc002gow.2_Missense_Mutation_p.C308Y|TRIM16_uc002goy.2_Missense_Mutation_p.C394Y NM_006470 NP_006461 O95361 TRI16_HUMAN tripartite motif-containing 16 524 B30.2/SPRY. histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid cytoplasm|plasma membrane|PML body DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding ovary(2)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559) TGAAAATTTGCAGGCAAACTT 0.517 5 126 --- --- --- --- PASS C17orf66 256957 broad.mit.edu 37 17 34182401 34182401 + Nonsense_Mutation SNP A T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr17:34182401A>T uc002hke.1 - 15 1528 c.1379T>A c.(1378-1380)TTA>TAA p.L460* C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Nonsense_Mutation_p.L420* NM_152781 NP_689994 A2RTY3 CQ066_HUMAN hypothetical protein LOC256957 460 binding breast(2)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) ACAAAGGATTAATGTTTCTTG 0.493 41 75 --- --- --- --- PASS CDC6 990 broad.mit.edu 37 17 38451705 38451705 + Missense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr17:38451705G>A uc002huj.1 + 8 1391 c.1181G>A c.(1180-1182)TGC>TAC p.C394Y NM_001254 NP_001245 Q99741 CDC6_HUMAN cell division cycle 6 protein 394 cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity ovary(2)|breast(1) 3 CTGGATGTTTGCAGGTGAGTT 0.403 66 116 --- --- --- --- PASS KRTAP1-3 81850 broad.mit.edu 37 17 39190672 39190672 + Nonsense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr17:39190672G>T uc002hvv.2 - 1 436 c.402C>A c.(400-402)TGC>TGA p.C134* NM_030966 NP_112228 Q8IUG1 KRA13_HUMAN keratin associated protein 1-3 144 extracellular region|keratin filament structural constituent of epidermis 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GGTGCAGCTGGCAGCAGGTTG 0.672 24 39 --- --- --- --- PASS FKBP10 60681 broad.mit.edu 37 17 39975846 39975846 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr17:39975846C>A uc002hxv.2 + 6 1307 c.982C>A c.(982-984)CAG>AAG p.Q328K FKBP10_uc002hxw.1_Missense_Mutation_p.Q31K NM_021939 NP_068758 Q96AY3 FKB10_HUMAN FK506 binding protein 10 precursor 328 PPIase FKBP-type 3. protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity ovary(1) 1 Breast(137;0.00122) BRCA - Breast invasive adenocarcinoma(366;0.148) CGGGATGGACCAGGGGCTGCA 0.617 8 22 --- --- --- --- PASS NSF 4905 broad.mit.edu 37 17 44770427 44770427 + Silent SNP A C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr17:44770427A>C uc002iku.2 + 10 1208 c.1104A>C c.(1102-1104)CTA>CTC p.L368L NSF_uc010wke.1_Silent_p.L274L|NSF_uc010wkf.1_Silent_p.L274L|NSF_uc010wkg.1_Silent_p.L363L NM_006178 NP_006169 P46459 NSF_HUMAN vesicle-fusing ATPase 368 protein transport|synaptic transmission cytosol ATP binding|metal ion binding ovary(1) 1 Melanoma(429;0.203) BRCA - Breast invasive adenocarcinoma(9;0.0257) BRCA - Breast invasive adenocarcinoma(366;0.241) ACAACATCCTAGTCATTGGTA 0.393 18 140 --- --- --- --- PASS ANKRD40 91369 broad.mit.edu 37 17 48777095 48777095 + Missense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr17:48777095G>A uc002iso.2 - 3 698 c.443C>T c.(442-444)CCC>CTC p.P148L NM_052855 NP_443087 Q6AI12 ANR40_HUMAN ankyrin repeat domain 40 148 Pro-rich. 0 BRCA - Breast invasive adenocarcinoma(22;2.03e-09) GGGTGTGGAGGGGCCCCCATT 0.582 38 80 --- --- --- --- PASS NUP85 79902 broad.mit.edu 37 17 73230817 73230817 + Silent SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr17:73230817G>A uc002jng.1 + 17 1961 c.1701G>A c.(1699-1701)CGG>CGA p.R567R NUP85_uc010dgd.1_Silent_p.R522R|NUP85_uc010wrv.1_Silent_p.R521R|NUP85_uc002jnh.1_Silent_p.R170R NM_024844 NP_079120 Q9BW27 NUP85_HUMAN nucleoporin 85 567 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding ovary(1) 1 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) TGACGTCTCGGATTGCCCCTC 0.522 9 268 --- --- --- --- PASS NUP85 79902 broad.mit.edu 37 17 73230872 73230872 + Missense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr17:73230872G>A uc002jng.1 + 17 2016 c.1756G>A c.(1756-1758)GAA>AAA p.E586K NUP85_uc010dgd.1_Missense_Mutation_p.E541K|NUP85_uc010wrv.1_Missense_Mutation_p.E540K|NUP85_uc002jnh.1_Missense_Mutation_p.E189K NM_024844 NP_079120 Q9BW27 NUP85_HUMAN nucleoporin 85 586 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding ovary(1) 1 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) GCCCCTTTTGGAACAGAAACA 0.517 8 215 --- --- --- --- PASS MBD3L1 85509 broad.mit.edu 37 19 8953366 8953366 + Missense_Mutation SNP T A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr19:8953366T>A uc002mko.2 + 1 98 c.12T>A c.(10-12)AGT>AGA p.S4R NM_145208 NP_660209 Q8WWY6 MB3L1_HUMAN methyl-CpG binding domain protein 3-like 4 Transcription repressor. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 TGGCCAAGAGTTCACAGAGGA 0.423 25 57 --- --- --- --- PASS ZNF560 147741 broad.mit.edu 37 19 9578580 9578580 + Missense_Mutation SNP T A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr19:9578580T>A uc002mlp.1 - 10 1253 c.1043A>T c.(1042-1044)TAT>TTT p.Y348F ZNF560_uc010dwr.1_Missense_Mutation_p.Y242F NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 348 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 CTTACATTCATAGGGGTTTTT 0.368 46 182 --- --- --- --- PASS C3P1 388503 broad.mit.edu 37 19 10157507 10157507 + RNA SNP A T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr19:10157507A>T uc010dwx.1 + 9 c.1341A>T NR_027300 Synthetic construct DNA, clone: pF1KB7402, Homo sapiens LOC388503 gene, without stop codon, in Flexi system. 0 TCTGCCAAAGAGTAAATCGGG 0.527 19 47 --- --- --- --- PASS NCAN 1463 broad.mit.edu 37 19 19349112 19349112 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr19:19349112C>T uc002nlz.2 + 11 3400 c.3301C>T c.(3301-3303)CGC>TGC p.R1101C NCAN_uc010ecc.1_Missense_Mutation_p.R665C|NCAN_uc002nma.2_5'Flank NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 1101 C-type lectin. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) CCACTGTTACCGCTATTTTGC 0.657 53 93 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22171626 22171626 + Missense_Mutation SNP C G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr19:22171626C>G uc002nqp.2 - 2 238 c.89G>C c.(88-90)AGA>ACA p.R30T ZNF208_uc002nqo.1_Missense_Mutation_p.R30T|ZNF208_uc002nqq.2_RNA NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) CATCACATTTCTATATAAATT 0.388 98 188 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22941436 22941436 + Missense_Mutation SNP G C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr19:22941436G>C uc010xrh.1 - 5 1002 c.1002C>G c.(1000-1002)TGC>TGG p.C334W NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CTTCACATTTGCAGGGTTTCT 0.378 45 66 --- --- --- --- PASS TSHZ3 57616 broad.mit.edu 37 19 31768009 31768009 + Missense_Mutation SNP T A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr19:31768009T>A uc002nsy.3 - 2 2755 c.2690A>T c.(2689-2691)AAC>ATC p.N897I NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 897 Homeobox; atypical. negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) GGGGTTCCAGTTTGACTGGCG 0.622 20 39 --- --- --- --- PASS CHST8 64377 broad.mit.edu 37 19 34263302 34263302 + Silent SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr19:34263302C>A uc002nus.3 + 5 1114 c.609C>A c.(607-609)TCC>TCA p.S203S CHST8_uc002nut.3_Silent_p.S203S|CHST8_uc002nuu.2_Silent_p.S203S NM_001127895 NP_001121367 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) 203 PAPS (By similarity).|Lumenal (Potential). carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity skin(2)|large_intestine(1)|ovary(1) 4 Esophageal squamous(110;0.162) CCGGCTGCTCCAATTGGAAGC 0.687 43 46 --- --- --- --- PASS ZNF599 148103 broad.mit.edu 37 19 35250252 35250252 + Missense_Mutation SNP G C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr19:35250252G>C uc010edn.1 - 4 1842 c.1454C>G c.(1453-1455)GCA>GGA p.A485G ZNF599_uc010edm.1_Missense_Mutation_p.A448G NM_001007248 NP_001007249 Q96NL3 ZN599_HUMAN zinc finger protein 599 485 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) AAAGGCTTTTGCACATTCTTT 0.428 32 284 --- --- --- --- PASS FFAR3 2865 broad.mit.edu 37 19 35850518 35850518 + Missense_Mutation SNP C A A rs147416906 TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr19:35850518C>A uc002nzd.2 + 2 801 c.726C>A c.(724-726)AAC>AAA p.N242K FFAR3_uc010xsu.1_Intron NM_005304 NP_005295 O14843 FFAR3_HUMAN free fatty acid receptor 3 242 Helical; Name=6; (Potential). integral to plasma membrane G-protein coupled receptor activity|lipid binding 0 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) GGCCCTACAACGTGTCCCATG 0.632 58 181 --- --- --- --- PASS ZNF260 339324 broad.mit.edu 37 19 37005989 37005989 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr19:37005989C>A uc002oee.1 - 4 996 c.152G>T c.(151-153)GGA>GTA p.G51V ZNF260_uc002oed.1_Missense_Mutation_p.G48V|ZNF260_uc010eey.1_Missense_Mutation_p.G48V|ZNF260_uc002oef.1_Missense_Mutation_p.G48V NM_001012756 NP_001012774 Q3ZCT1 ZN260_HUMAN zinc finger protein 260 51 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.162) AGATTTCTCTCCAGTATGCAT 0.368 119 156 --- --- --- --- PASS ZNF527 84503 broad.mit.edu 37 19 37870113 37870113 + Missense_Mutation SNP T C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr19:37870113T>C uc010efk.1 + 3 236 c.125T>C c.(124-126)GTC>GCC p.V42A ZNF527_uc002ogf.3_Missense_Mutation_p.V42A|ZNF527_uc010xtq.1_RNA|ZNF527_uc002oge.2_Missense_Mutation_p.V42A NM_032453 NP_115829 Q8NB42 ZN527_HUMAN zinc finger protein 527 42 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TACAGAGATGTCATGTTGGAG 0.438 74 189 --- --- --- --- PASS FCGBP 8857 broad.mit.edu 37 19 40433896 40433896 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr19:40433896G>T uc002omp.3 - 2 381 c.373C>A c.(373-375)CCT>ACT p.P125T NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 125 IgGFc-binding. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCTGTGTCAGGCTTGGCATTT 0.567 39 59 --- --- --- --- PASS MEGF8 1954 broad.mit.edu 37 19 42863288 42863288 + Silent SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr19:42863288G>T uc002otl.3 + 30 5816 c.5181G>T c.(5179-5181)GGG>GGT p.G1727G MEGF8_uc002otm.3_Silent_p.G1335G NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1794 Extracellular (Potential). integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) CCCTGTTAGGGGACACCATGG 0.657 3 13 --- --- --- --- PASS ZNF227 7770 broad.mit.edu 37 19 44740736 44740736 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr19:44740736G>T uc002oyu.2 + 6 2358 c.2153G>T c.(2152-2154)TGT>TTT p.C718F ZNF227_uc010xwu.1_Missense_Mutation_p.C667F|ZNF227_uc002oyv.2_Missense_Mutation_p.C718F|ZNF227_uc010xwv.1_Missense_Mutation_p.C667F|ZNF227_uc010xww.1_Missense_Mutation_p.C639F|ZNF227_uc002oyw.2_Missense_Mutation_p.C690F|ZNF227_uc010ejh.2_Missense_Mutation_p.C711F|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_3'UTR NM_182490 NP_872296 Q86WZ6 ZN227_HUMAN zinc finger protein 227 718 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0435) CCCCATATATGTGAGGAGTGT 0.468 39 190 --- --- --- --- PASS ZNF615 284370 broad.mit.edu 37 19 52497156 52497156 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr19:52497156C>A uc002pye.1 - 6 1465 c.1173G>T c.(1171-1173)CAG>CAT p.Q391H ZNF615_uc002pyf.1_Missense_Mutation_p.Q402H|ZNF615_uc002pyg.1_Missense_Mutation_p.Q283H|ZNF615_uc002pyh.1_Missense_Mutation_p.Q402H|ZNF615_uc010epi.1_Missense_Mutation_p.Q398H|ZNF615_uc010ydg.1_Missense_Mutation_p.Q396H NM_198480 NP_940882 Q8N8J6 ZN615_HUMAN zinc finger protein 615 391 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) TATGAGTTTGCTGATGTGTGA 0.393 47 137 --- --- --- --- PASS PPP2R1A 5518 broad.mit.edu 37 19 52714673 52714673 + Missense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr19:52714673G>A uc002pyp.2 + 4 590 c.431G>A c.(430-432)CGC>CAC p.R144H PPP2R1A_uc010ydk.1_Missense_Mutation_p.R89H|PPP2R1A_uc010epm.1_Missense_Mutation_p.R184H|PPP2R1A_uc002pyq.2_5'UTR NM_014225 NP_055040 P30153 2AAA_HUMAN alpha isoform of regulatory subunit A, protein 144 PP2A subunit B binding.|SV40 small T antigen binding.|HEAT 4.|Polyoma small and medium T antigens Binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1) 66 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) TTCACCTCCCGCACCTCGGCC 0.642 Mis clear cell ovarian carcinoma 63 66 --- --- --- --- PASS ZNF528 84436 broad.mit.edu 37 19 52909268 52909268 + Missense_Mutation SNP A T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr19:52909268A>T uc002pzh.2 + 5 550 c.124A>T c.(124-126)AGG>TGG p.R42W ZNF528_uc002pzi.2_5'UTR NM_032423 NP_115799 Q3MIS6 ZN528_HUMAN zinc finger protein 528 42 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) GGAGAATTATAGGAACCTGGT 0.507 86 271 --- --- --- --- PASS ZNF331 55422 broad.mit.edu 37 19 54081100 54081100 + Missense_Mutation SNP A G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr19:54081100A>G uc002qbx.1 + 7 2720 c.1286A>G c.(1285-1287)CAT>CGT p.H429R ZNF331_uc002qby.1_Missense_Mutation_p.H429R|ZNF331_uc002qbz.1_Missense_Mutation_p.H429R|ZNF331_uc002qca.1_Missense_Mutation_p.H429R|ZNF331_uc010eqr.1_Missense_Mutation_p.H429R|ZNF331_uc002qcb.1_Missense_Mutation_p.H429R|ZNF331_uc002qcc.1_Missense_Mutation_p.H429R|ZNF331_uc002qcd.1_Missense_Mutation_p.H429R NM_018555 NP_061025 Q9NQX6 ZN331_HUMAN zinc finger protein 331 429 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1) 6 GBM - Glioblastoma multiforme(134;0.00555) CTTACACAACATCAGAAAACG 0.493 T ? follicular thyroid adenoma 22 58 --- --- --- --- PASS CNOT3 4849 broad.mit.edu 37 19 54656311 54656311 + Nonsense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr19:54656311G>T uc002qdj.1 + 15 2163 c.1852G>T c.(1852-1854)GAA>TAA p.E618* CNOT3_uc010yel.1_Nonsense_Mutation_p.E618*|CNOT3_uc002qdi.2_Nonsense_Mutation_p.E531*|CNOT3_uc002qdk.1_Nonsense_Mutation_p.E618*|CNOT3_uc010ere.1_RNA|CNOT3_uc002qdl.2_Nonsense_Mutation_p.E73* NM_014516 NP_055331 O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 618 Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GCAGGCCATGGAAGAGGCCGC 0.627 22 84 --- --- --- --- PASS LILRA2 11027 broad.mit.edu 37 19 55087569 55087569 + Silent SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr19:55087569G>T uc002qgg.3 + 6 1337 c.1248G>T c.(1246-1248)GTG>GTT p.V416V LILRA2_uc010ern.2_Silent_p.V416V|LILRA2_uc002qgf.2_Silent_p.V416V|LILRA2_uc010yfe.1_Silent_p.V416V|LILRA2_uc010yff.1_Silent_p.V404V|LILRA2_uc010ero.2_Silent_p.V404V|LILRA2_uc010yfg.1_Intron NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 416 Extracellular (Potential). defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) TGGAGCTCGTGGTCTCAGGTG 0.607 62 123 --- --- --- --- PASS NLRP7 199713 broad.mit.edu 37 19 55450872 55450872 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr19:55450872C>A uc002qih.3 - 4 1391 c.1315G>T c.(1315-1317)GGG>TGG p.G439W NLRP7_uc002qig.3_Missense_Mutation_p.G439W|NLRP7_uc002qii.3_Missense_Mutation_p.G439W|NLRP7_uc010esk.2_Missense_Mutation_p.G439W|NLRP7_uc010esl.2_Missense_Mutation_p.G467W NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 439 NACHT. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) TCCTGCACCCCGAGCCTTTCC 0.662 20 87 --- --- --- --- PASS ZNF524 147807 broad.mit.edu 37 19 56113998 56113998 + Silent SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr19:56113998C>T uc002qlk.1 + 2 603 c.520C>T c.(520-522)CTG>TTG p.L174L FIZ1_uc002qlj.3_5'Flank NM_153219 NP_694951 Q96C55 ZN524_HUMAN zinc finger protein 524 174 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) CCGCTGCCCGCTGTGCCCCCG 0.726 3 7 --- --- --- --- PASS TGM6 343641 broad.mit.edu 37 20 2398084 2398084 + Silent SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr20:2398084C>T uc002wfy.1 + 10 1604 c.1543C>T c.(1543-1545)CTG>TTG p.L515L TGM6_uc010gal.1_Silent_p.L515L NM_198994 NP_945345 O95932 TGM3L_HUMAN transglutaminase 6 515 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(3)|skin(1) 4 L-Glutamine(DB00130) GAGACTGGCCCTGTGCTTGGC 0.647 21 34 --- --- --- --- PASS EMILIN3 90187 broad.mit.edu 37 20 39990768 39990768 + Silent SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr20:39990768G>A uc002xjy.1 - 4 1665 c.1441C>T c.(1441-1443)CTA>TTA p.L481L NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 481 Potential. proteinaceous extracellular matrix ovary(1) 1 Myeloproliferative disorder(115;0.00425) AATGTTGCTAGGCGCTCCTCG 0.632 36 105 --- --- --- --- PASS TOX2 84969 broad.mit.edu 37 20 42694707 42694707 + Missense_Mutation SNP A T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr20:42694707A>T uc002xlf.3 + 6 1279 c.1262A>T c.(1261-1263)CAG>CTG p.Q421L TOX2_uc010ggo.2_Missense_Mutation_p.Q439L|TOX2_uc002xle.3_Missense_Mutation_p.Q397L|TOX2_uc010ggp.2_Missense_Mutation_p.Q397L|TOX2_uc002xlg.2_Intron|TOX2_uc010zwk.1_Missense_Mutation_p.Q317L NM_001098798 NP_001092268 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 421 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) ATGGCACTCCAGGTGCAGCTG 0.672 15 24 --- --- --- --- PASS JPH2 57158 broad.mit.edu 37 20 42788378 42788378 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr20:42788378G>T uc002xli.1 - 2 1922 c.1049C>A c.(1048-1050)ACC>AAC p.T350N NM_020433 NP_065166 Q9BR39 JPH2_HUMAN junctophilin 2 isoform 1 350 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane 0 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GCGGCGCTTGGTGTCCTTGAC 0.662 13 42 --- --- --- --- PASS SPATA2 9825 broad.mit.edu 37 20 48522404 48522404 + Missense_Mutation SNP C G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr20:48522404C>G uc010gie.2 - 3 1665 c.1315G>C c.(1315-1317)GGC>CGC p.G439R SPATA2_uc002xuw.2_Missense_Mutation_p.G439R|SPATA2_uc010zyn.1_Missense_Mutation_p.G302R NM_001135773 NP_001129245 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 439 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|skin(1) 2 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) CGGTCGAGGCCCTGAGTCTGG 0.662 29 107 --- --- --- --- PASS ZNF831 128611 broad.mit.edu 37 20 57829194 57829194 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr20:57829194C>A uc002yan.2 + 5 4430 c.4430C>A c.(4429-4431)TCC>TAC p.S1477Y NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1477 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) TCCTTTGGGTCCAAAGGAACT 0.498 56 88 --- --- --- --- PASS COL20A1 57642 broad.mit.edu 37 20 61942764 61942764 + Missense_Mutation SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr20:61942764G>T uc011aau.1 + 12 1512 c.1412G>T c.(1411-1413)CGG>CTG p.R471L COL20A1_uc011aav.1_Missense_Mutation_p.R292L NM_020882 NP_065933 Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 471 Fibronectin type-III 3. cell adhesion collagen|extracellular space structural molecule activity central_nervous_system(1) 1 all_cancers(38;1.39e-10) CCTCCGCCCCGGGCGCTGACC 0.682 4 7 --- --- --- --- PASS KRTAP13-3 337960 broad.mit.edu 37 21 31798006 31798006 + Silent SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr21:31798006G>A uc002yob.1 - 1 225 c.225C>T c.(223-225)CCC>CCT p.P75P NM_181622 NP_853653 Q3SY46 KR133_HUMAN keratin associated protein 13-3 75 3.|5 X 10 AA approximate repeats. intermediate filament ovary(1)|lung(1) 2 AGGTGTGGCAGGGGCTGGACT 0.567 31 72 --- --- --- --- PASS MYH9 4627 broad.mit.edu 37 22 36705391 36705391 + Missense_Mutation SNP A C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr22:36705391A>C uc003apg.2 - 15 2010 c.1779T>G c.(1777-1779)AAT>AAG p.N593K MYH9_uc003aph.1_Missense_Mutation_p.N457K NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 593 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 CGATGTTGTCATTCAGGGGAT 0.572 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 15 50 --- --- --- --- PASS SELO 83642 broad.mit.edu 37 22 50654264 50654264 + Silent SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr22:50654264G>A uc011arr.1 + 6 1528 c.1470G>A c.(1468-1470)CTG>CTA p.L490L SELO_uc010hap.2_Silent_p.L301L|SELO_uc003bjy.2_Silent_p.L170L|SELO_uc003bjz.2_Missense_Mutation_p.E243K NM_031454 NP_113642 Q9BVL4 SELO_HUMAN selenoprotein O 490 0 all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) TGGAGGAGCTGAGGCTGGCCT 0.567 8 130 --- --- --- --- PASS MAPK11 5600 broad.mit.edu 37 22 50705455 50705455 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr22:50705455C>A uc003bkr.2 - 7 576 c.518G>T c.(517-519)CGC>CTC p.R173L MAPK11_uc010hax.2_5'UTR|MAPK11_uc011ars.1_RNA|MAPK11_uc010hay.1_RNA|MAPK11_uc011art.1_3'UTR|MAPK11_uc010haz.2_Missense_Mutation_p.R65L NM_002751 NP_002742 Q15759 MK11_HUMAN mitogen-activated protein kinase 11 173 Protein kinase. activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding lung(1)|breast(1) 2 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) GTCCGCCTGGCGCGCCAGCCC 0.662 17 43 --- --- --- --- PASS ACE2 59272 broad.mit.edu 37 X 15591560 15591560 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chrX:15591560C>A uc004cxa.1 - 11 1639 c.1471G>T c.(1471-1473)GTG>TTG p.V491L ACE2_uc004cxb.2_Missense_Mutation_p.V491L NM_021804 NP_068576 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 precursor 491 Extracellular (Potential). angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding ovary(3) 3 Hepatocellular(33;0.183) Moexipril(DB00691) TCATGGGGCACAGGTTCCACC 0.428 55 69 --- --- --- --- PASS CNKSR2 22866 broad.mit.edu 37 X 21508631 21508631 + Missense_Mutation SNP C G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chrX:21508631C>G uc004czx.1 + 6 652 c.616C>G c.(616-618)CTG>GTG p.L206V CNKSR2_uc004czw.2_Missense_Mutation_p.L206V|CNKSR2_uc011mjn.1_Missense_Mutation_p.L206V|CNKSR2_uc011mjo.1_Missense_Mutation_p.L206V NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 206 regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 GTCAGATCCTCTGGTTTCACA 0.418 20 107 --- --- --- --- PASS DCAF8L1 139425 broad.mit.edu 37 X 27997796 27997796 + Silent SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chrX:27997796C>A uc004dbx.1 - 1 1771 c.1656G>T c.(1654-1656)GTG>GTT p.V552V NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 552 ovary(3)|skin(1) 4 ACAGGTGACGCACGAAGAACC 0.478 56 88 --- --- --- --- PASS CACNA1F 778 broad.mit.edu 37 X 49065032 49065032 + Missense_Mutation SNP C T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chrX:49065032C>T uc004dnb.2 - 43 5161 c.5099G>A c.(5098-5100)AGG>AAG p.R1700K CACNA1F_uc010nip.2_Missense_Mutation_p.R1689K NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 1700 Cytoplasmic (Potential). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) GGGAGTCCCCCTGTCATCATC 0.587 16 13 --- --- --- --- PASS HUWE1 10075 broad.mit.edu 37 X 53563496 53563496 + Silent SNP G A A rs3761631 TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chrX:53563496G>A uc004dsp.2 - 79 12672 c.12270C>T c.(12268-12270)ACC>ACT p.T4090T HUWE1_uc004dsn.2_Silent_p.T2898T NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 4090 HECT. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 TGATGGTGTAGGTGACTCGAT 0.502 49 52 --- --- --- --- PASS MAGED2 10916 broad.mit.edu 37 X 54836517 54836517 + Silent SNP A C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chrX:54836517A>C uc004dtk.1 + 3 502 c.408A>C c.(406-408)ACA>ACC p.T136T MAGED2_uc004dtl.1_Silent_p.T136T|MAGED2_uc004dtm.1_Silent_p.T98T|MAGED2_uc010nkc.1_Silent_p.T136T|MAGED2_uc004dtn.1_Silent_p.T136T|MAGED2_uc004dto.1_Silent_p.T110T NM_177433 NP_803182 Q9UNF1 MAGD2_HUMAN melanoma antigen family D, 2 136 ovary(2)|breast(1) 3 AGGTCAATACAAAGGCTCAGG 0.552 9 11 --- --- --- --- PASS GDPD2 54857 broad.mit.edu 37 X 69646855 69646855 + Silent SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chrX:69646855C>A uc004dyh.2 + 8 947 c.696C>A c.(694-696)GCC>GCA p.A232A GDPD2_uc010nkx.1_Silent_p.A232A|GDPD2_uc010nky.1_Silent_p.A18A|GDPD2_uc011mpk.1_Silent_p.A232A|GDPD2_uc011mpl.1_Silent_p.A153A|GDPD2_uc011mpm.1_Silent_p.A153A NM_017711 NP_060181 Q9HCC8 GDPD2_HUMAN osteoblast differentiation promoting factor 232 GDPD.|Extracellular (Potential). glycerol metabolic process|lipid metabolic process cytoplasm|cytoskeleton|integral to membrane|plasma membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding ovary(2) 2 Renal(35;0.156) ACCGAGGGGCCCCCATGGTGA 0.617 29 26 --- --- --- --- PASS NAP1L2 4674 broad.mit.edu 37 X 72433581 72433581 + Missense_Mutation SNP T A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chrX:72433581T>A uc004ebi.2 - 1 1104 c.748A>T c.(748-750)AAC>TAC p.N250Y NAP1L2_uc011mqj.1_Missense_Mutation_p.N108Y NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 250 nucleosome assembly chromatin assembly complex lung(1) 1 Renal(35;0.156) GTATCAACGTTTTTTAAAACA 0.363 11 68 --- --- --- --- PASS KLHL4 56062 broad.mit.edu 37 X 86869436 86869436 + Splice_Site SNP G T T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chrX:86869436G>T uc004efb.2 + 3 773 c.591_splice c.e3-1 p.R197_splice KLHL4_uc004efa.2_Splice_Site_p.R197_splice NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 CCTATTTCCAGGTTGGTTCTC 0.368 26 41 --- --- --- --- PASS TGIF2LX 90316 broad.mit.edu 37 X 89177593 89177593 + Missense_Mutation SNP A G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chrX:89177593A>G uc004efe.2 + 2 558 c.509A>G c.(508-510)GAG>GGG p.E170G NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 170 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 ATGTCAAGAGAGAAGCAACCA 0.587 14 31 --- --- --- --- PASS TGIF2LX 90316 broad.mit.edu 37 X 89177791 89177791 + Missense_Mutation SNP A C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chrX:89177791A>C uc004efe.2 + 2 756 c.707A>C c.(706-708)AAG>ACG p.K236T NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 236 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 CTAGAGAAGAAGCAAGAGCCT 0.483 22 46 --- --- --- --- PASS TEX13A 56157 broad.mit.edu 37 X 104464163 104464163 + Missense_Mutation SNP G C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chrX:104464163G>C uc004ema.2 - 5 825 c.713C>G c.(712-714)ACA>AGA p.T238R IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.Q239E NM_031274 NP_112564 Q9BXU3 TX13A_HUMAN testis expressed sequence 13A 238 intracellular zinc ion binding ovary(2) 2 CAGCTTCTCTGTGGTCTCCAT 0.627 14 17 --- --- --- --- PASS CAPN6 827 broad.mit.edu 37 X 110497519 110497519 + Missense_Mutation SNP T C C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chrX:110497519T>C uc004epc.1 - 3 446 c.278A>G c.(277-279)CAG>CGG p.Q93R CAPN6_uc011msu.1_5'UTR NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN calpain 6 93 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1) 6 ATGAGACTCCTGAACAGCCAA 0.458 38 66 --- --- --- --- PASS LUZP4 51213 broad.mit.edu 37 X 114541191 114541191 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chrX:114541191C>A uc004eqa.2 + 4 798 c.764C>A c.(763-765)ACT>AAT p.T255N LUZP4_uc004eqb.2_Missense_Mutation_p.T173N NM_016383 NP_057467 Q9P127 LUZP4_HUMAN leucine zipper protein 4 255 nucleus ovary(2) 2 CTCATAGCCACTCAGAAAGAT 0.473 8 100 --- --- --- --- PASS NKAP 79576 broad.mit.edu 37 X 119077307 119077307 + Missense_Mutation SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chrX:119077307G>A uc004esh.2 - 1 429 c.262C>T c.(262-264)CGG>TGG p.R88W NM_024528 NP_078804 Q8N5F7 NKAP_HUMAN NFKB activating protein 88 Ser-rich. negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding ovary(2) 2 GGGATGCCCCGGGGCGCAGAG 0.652 14 23 --- --- --- --- PASS SH2D1A 4068 broad.mit.edu 37 X 123504098 123504098 + Missense_Mutation SNP C A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chrX:123504098C>A uc004euf.3 + 3 619 c.274C>A c.(274-276)CAA>AAA p.Q92K SH2D1A_uc004euh.3_Missense_Mutation_p.Q92K|SH2D1A_uc004eug.3_RNA|SH2D1A_uc010nqw.2_RNA|SH2D1A_uc004eui.3_RNA|SH2D1A_uc010nqx.2_RNA NM_002351 NP_002342 O60880 SH21A_HUMAN SH2 domain protein 1A isoform 1 92 SH2. cell-cell signaling|cellular defense response cytoplasm SH3/SH2 adaptor activity 0 GAAGCCAGATCAAGGCATTGT 0.378 X-linked_Lymphoproliferative_syndrome 79 93 --- --- --- --- PASS UBE2NL 389898 broad.mit.edu 37 X 142967583 142967583 + Silent SNP G A A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chrX:142967583G>A uc004fca.2 + 1 411 c.381G>A c.(379-381)GTG>GTA p.V127V NM_001012989 NP_001013007 Q5JXB2 UE2NL_HUMAN ubiquitin-conjugating enzyme E2N-like 127 acid-amino acid ligase activity 0 Acute lymphoblastic leukemia(192;6.56e-05) ATGATGTAGTGGAGCAGTGGA 0.448 48 88 --- --- --- --- PASS VAMP7 6845 broad.mit.edu 37 X 155127868 155127868 + Silent SNP A G G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chrX:155127868A>G uc004fnr.2 + 4 471 c.297A>G c.(295-297)CCA>CCG p.P99P VAMP7_uc004fnt.2_Silent_p.P58P|VAMP7_uc011naa.1_Silent_p.P60P|VAMP7_uc011nab.1_5'UTR|VAMP7_uc004fns.2_Silent_p.P99P|VAMP7_uc011nac.1_Silent_p.P32P NM_005638 NP_005629 P51809 VAMP7_HUMAN vesicle-associated membrane protein 7 isoform 1 99 Longin.|Cytoplasmic (Potential). calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane protein binding 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CAGCACTTCCATATGCCATGA 0.393 64 151 --- --- --- --- PASS APOBEC1 339 broad.mit.edu 37 12 7805100 7805100 + Frame_Shift_Del DEL G - - TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr12:7805100delG uc001qtb.2 - 3 410 c.376delC c.(376-378)CAAfs p.Q126fs APOBEC1_uc001qtc.2_Frame_Shift_Del_p.Q81fs|APOBEC1_uc010sgf.1_Frame_Shift_Del_p.Q126fs NM_001644 NP_001635 P41238 ABEC1_HUMAN apolipoprotein B mRNA editing enzyme 126 cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm cytidine deaminase activity|RNA binding|zinc ion binding 0 TGCCGATTTTGTTGATCCATG 0.438 104 99 --- --- --- --- ZNF831 128611 broad.mit.edu 37 20 57768092 57768092 + Frame_Shift_Del DEL C - - TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 935b113e-f5ed-4a07-8e1d-1603daba7f40 1845bc27-c3d3-4254-909c-2dc91f9e296b g.chr20:57768092delC uc002yan.2 + 1 2018 c.2018delC c.(2017-2019)ACCfs p.T673fs NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 673 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) ACAGTCCCCACCCAAGACAGG 0.612 41 19 --- --- --- ---