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 MMEL1 79258 broad.mit.edu 37 1 2523025 2523025 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:2523025C>G uc001ajy.2 - 23 2425 c.2211G>C c.(2209-2211)AAG>AAC p.K737N MMEL1_uc009vlg.1_RNA NM_033467 NP_258428 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 737 Lumenal (Potential). proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity 0 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) GGACGTCTGTCTTGATGGATT 0.632 19 66 --- --- --- --- PASS CAMTA1 23261 broad.mit.edu 37 1 7826535 7826535 + Missense_Mutation SNP A G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:7826535A>G uc001aoi.2 + 23 5213 c.5006A>G c.(5005-5007)AAA>AGA p.K1669R CAMTA1_uc001aok.3_Missense_Mutation_p.K702E|CAMTA1_uc001aoj.2_Missense_Mutation_p.K622E|CAMTA1_uc009vmf.2_Missense_Mutation_p.K249E NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 1669 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) AGAATTGAAAAAGGCCAAGGA 0.398 7 30 --- --- --- --- PASS TMEM201 199953 broad.mit.edu 37 1 9661475 9661475 + Missense_Mutation SNP A T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:9661475A>T uc001apz.2 + 5 931 c.919A>T c.(919-921)ACC>TCC p.T307S TMEM201_uc001apy.2_Missense_Mutation_p.T307S NM_001130924 NP_001124396 Q5SNT2 TM201_HUMAN transmembrane protein 201 isoform 1 307 Helical; (Potential). integral to membrane|nuclear inner membrane 0 all_lung(157;0.222) all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419) GGGCCTACTCACCTGCCTGCT 0.657 12 31 --- --- --- --- PASS PTCHD2 57540 broad.mit.edu 37 1 11577558 11577558 + Silent SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:11577558C>T uc001ash.3 + 7 1926 c.1788C>T c.(1786-1788)CTC>CTT p.L596L PTCHD2_uc001asi.1_Silent_p.L596L NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 596 Helical; (Potential).|SSD. cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) TCATGTCTCTCATCGTGTCCT 0.612 28 77 --- --- --- --- PASS MIIP 60672 broad.mit.edu 37 1 12082420 12082420 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:12082420C>T uc001ato.1 + 3 563 c.383C>T c.(382-384)TCA>TTA p.S128L NM_021933 NP_068752 Q5JXC2 MIIP_HUMAN invasion inhibitory protein 45 128 ovary(1) 1 CCAGAGCCCTCAGGGAGGCTG 0.657 3 18 --- --- --- --- PASS VPS13D 55187 broad.mit.edu 37 1 12304675 12304675 + Splice_Site SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:12304675G>A uc001atv.2 + 5 588 c.447_splice c.e5+1 p.E149_splice VPS13D_uc001atw.2_Splice_Site_p.E149_splice NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 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) GAATATTGAAGTAAGTCCTGC 0.428 11 34 --- --- --- --- PASS PRDM2 7799 broad.mit.edu 37 1 14108529 14108529 + Silent SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:14108529G>A uc001avi.2 + 8 5095 c.4239G>A c.(4237-4239)TCG>TCA p.S1413S PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.S1413S|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Silent_p.S1212S|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 1413 Arg/Lys-rich (basic). Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) GCAAAATGTCGTCGAATAAGC 0.393 24 61 --- --- --- --- PASS FBXO42 54455 broad.mit.edu 37 1 16577630 16577630 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:16577630G>C uc001ayg.2 - 10 1905 c.1689C>G c.(1687-1689)ATC>ATG p.I563M FBXO42_uc001aye.3_Missense_Mutation_p.I281M|FBXO42_uc001ayf.2_Missense_Mutation_p.I470M NM_018994 NP_061867 Q6P3S6 FBX42_HUMAN F-box protein 42 563 upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) ACATCGCTTTGATGGCTTCCA 0.612 6 57 --- --- --- --- PASS IGSF21 84966 broad.mit.edu 37 1 18688620 18688620 + Missense_Mutation SNP T C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:18688620T>C uc001bau.1 + 5 819 c.436T>C c.(436-438)TCC>CCC p.S146P IGSF21_uc001bav.1_5'UTR NM_032880 NP_116269 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 precursor 146 extracellular region ovary(2)|large_intestine(1)|skin(1) 4 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) TCCTCCCACCTCCATTGAAGT 0.567 3 11 --- --- --- --- PASS RNF186 54546 broad.mit.edu 37 1 20141492 20141492 + Nonsense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:20141492C>A uc001bcr.2 - 1 280 c.103G>T c.(103-105)GAA>TAA p.E35* NM_019062 NP_061935 Q9NXI6 RN186_HUMAN ring finger protein 186 35 integral to membrane zinc ion binding 0 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) AGGTCACATTCTGTGGAGCCA 0.647 20 62 --- --- --- --- PASS ZBTB40 9923 broad.mit.edu 37 1 22816893 22816893 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:22816893C>G uc001bft.2 + 3 963 c.452C>G c.(451-453)TCT>TGT p.S151C ZBTB40_uc001bfu.2_Missense_Mutation_p.S151C|ZBTB40_uc009vqi.1_Missense_Mutation_p.S151C NM_001083621 NP_001077090 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 151 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) ATCCTTTCATCTGAAGGTGCT 0.527 35 142 --- --- --- --- PASS SFN 2810 broad.mit.edu 37 1 27190313 27190313 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:27190313G>A uc001bnc.1 + 1 681 c.610G>A c.(610-612)GAT>AAT p.D204N uc010ofi.1_RNA NM_006142 NP_006133 P31947 1433S_HUMAN stratifin 204 DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria cytoplasm|extracellular space|nucleus protein domain specific binding|protein kinase C inhibitor activity 0 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215) GGCCATGGCTGATCTGCACAC 0.607 13 66 --- --- --- --- PASS AHDC1 27245 broad.mit.edu 37 1 27876980 27876980 + Silent SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:27876980G>C uc009vsy.2 - 6 2616 c.1647C>G c.(1645-1647)CGC>CGG p.R549R AHDC1_uc009vsz.1_Silent_p.R549R NM_001029882 NP_001025053 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 549 A.T hook 2. DNA binding central_nervous_system(1) 1 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) TCTTAGGAGGGCGGCCGCGCT 0.637 5 24 --- --- --- --- PASS KIAA0319L 79932 broad.mit.edu 37 1 35909835 35909835 + Silent SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:35909835C>A uc001byx.2 - 17 2841 c.2583G>T c.(2581-2583)GCG>GCT p.A861A KIAA0319L_uc001byw.2_Silent_p.A303A|KIAA0319L_uc010ohv.1_Silent_p.A503A NM_024874 NP_079150 Q8IZA0 K319L_HUMAN dyslexia susceptibility 2-like 861 Extracellular (Potential). cytoplasmic vesicle part|integral to membrane protein binding skin(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TCTTGAGCATCGCTGCCACCT 0.463 24 38 --- --- --- --- PASS CLSPN 63967 broad.mit.edu 37 1 36203671 36203671 + Nonsense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:36203671C>A uc001bzi.2 - 22 3666 c.3586G>T c.(3586-3588)GAA>TAA p.E1196* CLSPN_uc009vux.2_Nonsense_Mutation_p.E1132* NM_022111 NP_071394 Q9HAW4 CLSPN_HUMAN claspin 1196 activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm anaphase-promoting complex binding|DNA binding breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1) 8 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TCTTCTTCTTCTTCAGCTGTA 0.338 24 38 --- --- --- --- PASS EPHA10 284656 broad.mit.edu 37 1 38227557 38227557 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:38227557C>T uc009vvi.2 - 3 456 c.370G>A c.(370-372)GAG>AAG p.E124K EPHA10_uc001cbw.3_Missense_Mutation_p.E124K NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN EPH receptor A10 isofom 3 124 Extracellular (Potential). extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity breast(4)|stomach(3)|lung(1) 8 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TTGAAGGTCTCCTTGCAGGTA 0.662 32 145 --- --- --- --- PASS TIE1 7075 broad.mit.edu 37 1 43787098 43787098 + Silent SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:43787098C>T uc001ciu.2 + 21 3259 c.3180C>T c.(3178-3180)GCC>GCT p.A1060A TIE1_uc010oke.1_Silent_p.A1015A|TIE1_uc009vwq.2_Silent_p.A1016A|TIE1_uc010okg.1_Silent_p.A705A NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 1060 Cytoplasmic (Potential).|Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGACCTGTGCCGAGCTCTATG 0.592 11 28 --- --- --- --- PASS MPL 4352 broad.mit.edu 37 1 43818205 43818205 + Nonsense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:43818205C>G uc001ciw.2 + 12 1715 c.1670C>G c.(1669-1671)TCA>TGA p.S557* MPL_uc009vwr.2_Nonsense_Mutation_p.S550* NM_005373 NP_005364 P40238 TPOR_HUMAN myeloproliferative leukemia virus oncogene 557 Cytoplasmic (Potential). cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1) 363 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GCCACAGTCTCAGATACCTGT 0.557 Mis MPD MPD congenital amegakaryocytic thrombocytopenia 10 41 --- --- --- --- PASS KIAA0467 23334 broad.mit.edu 37 1 43891796 43891796 + Missense_Mutation SNP A G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:43891796A>G uc001cjk.1 + 7 953 c.491A>G c.(490-492)CAG>CGG p.Q164R KIAA0467_uc009vws.1_Missense_Mutation_p.Q1006R NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CAGCAGCTCCAGATGTTCTTC 0.512 15 15 --- --- --- --- PASS IPP 3652 broad.mit.edu 37 1 46211819 46211819 + Nonsense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:46211819G>A uc001cou.2 - 2 532 c.265C>T c.(265-267)CAG>TAG p.Q89* IPP_uc001cos.3_Nonsense_Mutation_p.Q89* NM_005897 NP_005888 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 89 BTB. actin cytoskeleton|cytoplasm actin binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) AGAAGTATCTGAAAGATTCCT 0.343 8 45 --- --- --- --- PASS C1orf177 163747 broad.mit.edu 37 1 55279497 55279497 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:55279497C>G uc001cyb.3 + 7 827 c.773C>G c.(772-774)CCC>CGC p.P258R C1orf177_uc001cya.3_Missense_Mutation_p.P258R NM_001110533 NP_001104003 Q3ZCV2 CA177_HUMAN hypothetical protein LOC163747 isoform 2 258 0 AAAAAAAAGCCCAGGGAACTG 0.413 6 36 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75038884 75038884 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:75038884C>T uc001dgg.2 - 14 2729 c.2510G>A c.(2509-2511)AGG>AAG p.R837K NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 837 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CTCTGCCCCCCTTTCTATGCC 0.562 25 71 --- --- --- --- PASS LRRC8C 84230 broad.mit.edu 37 1 90179638 90179638 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:90179638G>A uc001dnl.3 + 3 1751 c.1509G>A c.(1507-1509)ATG>ATA p.M503I NM_032270 NP_115646 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member 503 LRR 5. endoplasmic reticulum membrane|integral to membrane ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) TTGATGACATGAGGGAACTCC 0.488 16 39 --- --- --- --- PASS ALG14 199857 broad.mit.edu 37 1 95448643 95448643 + Silent SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:95448643G>T uc001dra.2 - 4 693 c.640C>A c.(640-642)CGA>AGA p.R214R NM_144988 NP_659425 Q96F25 ALG14_HUMAN asparagine-linked glycosylation 14 homolog 214 Cytoplasmic (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity 0 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.0615)|Epithelial(280;0.139) CAAACAATTCGCCCAAGGTAC 0.393 10 54 --- --- --- --- PASS CELSR2 1952 broad.mit.edu 37 1 109793561 109793561 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:109793561C>T uc001dxa.3 + 1 921 c.860C>T c.(859-861)CCT>CTT p.P287L NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 287 Cadherin 1.|Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GACCATGACCCTGTGTTCGAG 0.602 15 40 --- --- --- --- PASS AP4B1 10717 broad.mit.edu 37 1 114442820 114442820 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:114442820G>A uc001eeb.2 - 5 963 c.820C>T c.(820-822)CTT>TTT p.L274F uc001edv.1_RNA|AP4B1_uc001eec.2_Missense_Mutation_p.L106F|AP4B1_uc001eed.2_Missense_Mutation_p.L274F|AP4B1_uc010owp.1_Missense_Mutation_p.L175F|AP4B1_uc001eea.1_Missense_Mutation_p.L68F|AP4B1_uc010owq.1_Missense_Mutation_p.L181F NM_006594 NP_006585 Q9Y6B7 AP4B1_HUMAN adaptor-related protein complex 4, beta 1 274 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|soluble fraction|trans-Golgi network protein binding|protein transporter activity ovary(3)|central_nervous_system(1) 4 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ACCCGCACAAGGACATCAGTT 0.478 10 37 --- --- --- --- PASS CASQ2 845 broad.mit.edu 37 1 116245587 116245587 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:116245587C>G uc001efx.3 - 10 1233 c.969G>C c.(967-969)AAG>AAC p.K323N CASQ2_uc010owu.1_Missense_Mutation_p.K252N NM_001232 NP_001223 O14958 CASQ2_HUMAN cardiac calsequestrin 2 precursor 323 heart development|striated muscle contraction sarcoplasmic reticulum lumen calcium ion binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) ATAGGTCAATCTTGAAAGTCT 0.522 4 9 --- --- --- --- PASS HRNR 388697 broad.mit.edu 37 1 152188200 152188200 + Missense_Mutation SNP A T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:152188200A>T uc001ezt.1 - 3 5981 c.5905T>A c.(5905-5907)TCT>ACT p.S1969T NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 1969 22. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTGAGCCAGACCCATATGGG 0.617 22 555 --- --- --- --- PASS HRNR 388697 broad.mit.edu 37 1 152192012 152192012 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:152192012G>C uc001ezt.1 - 3 2169 c.2093C>G c.(2092-2094)TCT>TGT p.S698C NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 698 7. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AAAGCCGGAAGACTGGCCTGA 0.567 28 124 --- --- --- --- PASS FLG2 388698 broad.mit.edu 37 1 152328900 152328900 + Silent SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:152328900G>T uc001ezw.3 - 3 1435 c.1362C>A c.(1360-1362)GGC>GGA p.G454G uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 454 Filaggrin 2.|Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACTCATGCTGGCCACAAGTTT 0.493 24 89 --- --- --- --- PASS GON4L 54856 broad.mit.edu 37 1 155726809 155726809 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:155726809C>G uc001flz.2 - 27 5554 c.5457G>C c.(5455-5457)AAG>AAC p.K1819N GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Missense_Mutation_p.K1819N|GON4L_uc009wrh.1_Missense_Mutation_p.K1819N|GON4L_uc001fma.1_Missense_Mutation_p.K1819N|GON4L_uc001fmb.3_Missense_Mutation_p.K1015N NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN gon-4-like isoform a 1819 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(3) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) CTGTGGGTATCTTGGGAGGCT 0.408 13 40 --- --- --- --- PASS GON4L 54856 broad.mit.edu 37 1 155736446 155736446 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:155736446C>G uc001flz.2 - 21 2915 c.2818G>C c.(2818-2820)GAG>CAG p.E940Q GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Missense_Mutation_p.E940Q|GON4L_uc009wrh.1_Missense_Mutation_p.E940Q|GON4L_uc001fma.1_Missense_Mutation_p.E940Q|GON4L_uc001fmb.3_Missense_Mutation_p.E136Q|GON4L_uc001fmc.2_Missense_Mutation_p.E940Q|GON4L_uc001fmd.3_Missense_Mutation_p.E940Q|GON4L_uc009wri.2_Missense_Mutation_p.E526Q NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN gon-4-like isoform a 940 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(3) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TTTCCTACCTCTCTAGCACCA 0.468 17 51 --- --- --- --- PASS FCRL2 79368 broad.mit.edu 37 1 157737253 157737253 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:157737253C>A uc001fre.2 - 6 989 c.930G>T c.(928-930)CAG>CAT p.Q310H FCRL2_uc001frd.2_Missense_Mutation_p.Q57H|FCRL2_uc010phz.1_Missense_Mutation_p.Q310H|FCRL2_uc009wsp.2_Intron NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 310 Ig-like C2-type 4.|Extracellular (Potential). cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity ovary(1)|pancreas(1) 2 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCACTGCAGCCTGGGCCCCAG 0.542 8 40 --- --- --- --- PASS CD1A 909 broad.mit.edu 37 1 158226602 158226602 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:158226602G>A uc001frt.2 + 4 1164 c.631G>A c.(631-633)GGC>AGC p.G211S NM_001763 NP_001754 P06126 CD1A_HUMAN CD1A antigen precursor 211 Extracellular (Potential).|Ig-like. antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) GCTGTCCCATGGCCCCAGTCC 0.522 17 47 --- --- --- --- PASS CD1A 909 broad.mit.edu 37 1 158226603 158226603 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:158226603G>T uc001frt.2 + 4 1165 c.632G>T c.(631-633)GGC>GTC p.G211V NM_001763 NP_001754 P06126 CD1A_HUMAN CD1A antigen precursor 211 Extracellular (Potential).|Ig-like. antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) CTGTCCCATGGCCCCAGTCCT 0.527 17 47 --- --- --- --- PASS OR10Z1 128368 broad.mit.edu 37 1 158576474 158576474 + Silent SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:158576474C>A uc010pio.1 + 1 246 c.246C>A c.(244-246)CTC>CTA p.L82L NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 82 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) CTAGAATGCTCTCTGGCCTGG 0.547 43 166 --- --- --- --- PASS PVRL4 81607 broad.mit.edu 37 1 161047464 161047464 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:161047464G>C uc001fxo.2 - 3 808 c.509C>G c.(508-510)TCC>TGC p.S170C PVRL4_uc010pjz.1_5'Flank NM_030916 NP_112178 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 precursor 170 Ig-like C2-type 1.|Extracellular (Potential). adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane ovary(2) 2 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) AGCTGTGCAGGAGGCTGCCAG 0.647 11 24 --- --- --- --- PASS TNN 63923 broad.mit.edu 37 1 175046886 175046886 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:175046886G>T uc001gkl.1 + 2 445 c.332G>T c.(331-333)CGG>CTG p.R111L TNN_uc010pmx.1_Missense_Mutation_p.R111L NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 111 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) CTCCTGGCCCGGGTGAAGAAG 0.577 8 26 --- --- --- --- PASS PLA2G4A 5321 broad.mit.edu 37 1 186880434 186880434 + Silent SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:186880434C>T uc001gsc.2 + 7 676 c.471C>T c.(469-471)TTC>TTT p.F157F PLA2G4A_uc010pos.1_Intron NM_024420 NP_077734 P47712 PA24A_HUMAN cytosolic phospholipase A2, group IVA 157 Phospholipid binding (Probable).|PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity lung(2)|breast(1) 3 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) AGAAGACTTTCAGACAACAGA 0.438 19 79 --- --- --- --- PASS CFHR5 81494 broad.mit.edu 37 1 196952141 196952141 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:196952141C>A uc001gts.3 + 2 313 c.185C>A c.(184-186)CCT>CAT p.P62H NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN complement factor H-related 5 precursor 62 Sushi 1. complement activation, alternative pathway extracellular region breast(1)|skin(1) 2 TTTGTGTCTCCTTCAAAATCC 0.393 18 59 --- --- --- --- PASS DDX59 83479 broad.mit.edu 37 1 200635670 200635670 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:200635670C>A uc009wzk.2 - 2 442 c.199G>T c.(199-201)GGC>TGC p.G67C DDX59_uc010ppl.1_Missense_Mutation_p.G67C NM_001031725 NP_001026895 Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 67 intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding ovary(2)|breast(1)|central_nervous_system(1) 4 GCCAACTGGCCACCTGGGCTG 0.527 12 58 --- --- --- --- PASS CR1 1378 broad.mit.edu 37 1 207758124 207758124 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:207758124C>A uc001hfy.2 + 25 4223 c.4083C>A c.(4081-4083)AAC>AAA p.N1361K CR1_uc009xcl.1_Missense_Mutation_p.N911K|CR1_uc001hfx.2_Missense_Mutation_p.N1811K NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 1361 Extracellular (Potential).|Sushi 21. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 TGACCTTCAACCTCATTGGGG 0.527 4 105 --- --- --- --- PASS CAMK1G 57172 broad.mit.edu 37 1 209785331 209785331 + Silent SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:209785331G>A uc001hhd.2 + 11 1212 c.1110G>A c.(1108-1110)CTG>CTA p.L370L CAMK1G_uc001hhf.3_Silent_p.L370L|CAMK1G_uc001hhe.2_Silent_p.L370L NM_020439 NP_065172 Q96NX5 KCC1G_HUMAN calcium/calmodulin-dependent protein kinase IG 370 Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0475) TCCCTGCCCTGACCCAATTAC 0.627 12 69 --- --- --- --- PASS DEGS1 8560 broad.mit.edu 37 1 224377500 224377500 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:224377500G>A uc001hoj.2 + 2 415 c.304G>A c.(304-306)GCA>ACA p.A102T DEGS1_uc001hoi.2_Missense_Mutation_p.A81T NM_144780 NP_659004 O15121 DEGS1_HUMAN degenerative spermatocyte homolog 1, lipid 102 Helical; (Potential). sphingolipid metabolic process|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity 0 Breast(184;0.193) GBM - Glioblastoma multiforme(131;0.00643) CAACTGCAAAGCAATGTGGAA 0.433 33 98 --- --- --- --- PASS H3F3A 3020 broad.mit.edu 37 1 226253396 226253396 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:226253396G>T uc001hpw.2 + 3 283 c.168G>T c.(166-168)CAG>CAT p.Q56H H3F3A_uc010pvl.1_Missense_Mutation_p.Q56H NM_005324 NP_005315 P84243 H33_HUMAN H3 histone, family 3B 56 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding 0 Breast(184;0.179) GBM - Glioblastoma multiforme(131;0.203) GACGTTATCAGAAGTCCACTG 0.428 12 32 --- --- --- --- PASS NUP133 55746 broad.mit.edu 37 1 229588372 229588372 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:229588372C>A uc001htn.2 - 22 3091 c.2999G>T c.(2998-3000)CGC>CTC p.R1000L NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 1000 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) CAGTAGAAAGCGCTCCTGCTC 0.438 7 26 --- --- --- --- PASS GPR137B 7107 broad.mit.edu 37 1 236306222 236306222 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:236306222C>G uc001hxq.2 + 1 391 c.300C>G c.(298-300)TTC>TTG p.F100L NM_003272 NP_003263 O60478 G137B_HUMAN G protein-coupled receptor 137B 100 Helical; (Potential). integral to plasma membrane|membrane fraction 0 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226) OV - Ovarian serous cystadenocarcinoma(106;0.00162) CCTTCTACTTCAAAGACTTCG 0.572 30 107 --- --- --- --- PASS RGS7 6000 broad.mit.edu 37 1 241031964 241031964 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:241031964C>A uc001hyv.2 - 9 862 c.532G>T c.(532-534)GAC>TAC p.D178Y RGS7_uc010pyh.1_Missense_Mutation_p.D152Y|RGS7_uc010pyj.1_Missense_Mutation_p.D94Y|RGS7_uc001hyu.2_Missense_Mutation_p.D178Y|RGS7_uc009xgn.1_Missense_Mutation_p.D125Y|RGS7_uc001hyw.2_Missense_Mutation_p.D178Y|RGS7_uc001hyt.2_Missense_Mutation_p.D10Y NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 178 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) CTCTTCTTGTCCACTCTGTCA 0.453 20 49 --- --- --- --- PASS RGS7 6000 broad.mit.edu 37 1 241031965 241031965 + Silent SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:241031965C>A uc001hyv.2 - 9 861 c.531G>T c.(529-531)GTG>GTT p.V177V RGS7_uc010pyh.1_Silent_p.V151V|RGS7_uc010pyj.1_Silent_p.V93V|RGS7_uc001hyu.2_Silent_p.V177V|RGS7_uc009xgn.1_Silent_p.V124V|RGS7_uc001hyw.2_Silent_p.V177V|RGS7_uc001hyt.2_Silent_p.V9V NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 177 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TCTTCTTGTCCACTCTGTCAA 0.458 21 50 --- --- --- --- PASS ZNF496 84838 broad.mit.edu 37 1 247464220 247464220 + Silent SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:247464220C>T uc001ico.2 - 9 1830 c.1365G>A c.(1363-1365)GAG>GAA p.E455E ZNF496_uc009xgv.2_Silent_p.E491E|ZNF496_uc001icp.2_Silent_p.E455E NM_032752 NP_116141 Q96IT1 ZN496_HUMAN zinc finger protein 496 455 C2H2-type 2. positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) CCTCGTGGCTCTCTAGGTGCC 0.672 9 37 --- --- --- --- PASS OR6F1 343169 broad.mit.edu 37 1 247875527 247875527 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:247875527G>C uc001idj.1 - 1 531 c.531C>G c.(529-531)TTC>TTG p.F177L NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 177 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TGTCACAGAAGAAGTGGTTGA 0.572 20 56 --- --- --- --- PASS OR2T8 343172 broad.mit.edu 37 1 248084542 248084542 + Missense_Mutation SNP A T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:248084542A>T uc010pzc.1 + 1 223 c.223A>T c.(223-225)ACT>TCT p.T75S NM_001005522 NP_001005522 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, 75 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 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;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGTTTCCACCACTGTGCCCAA 0.582 10 39 --- --- --- --- PASS OR2M4 26245 broad.mit.edu 37 1 248402872 248402872 + Silent SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:248402872C>A uc010pzh.1 + 1 642 c.642C>A c.(640-642)ATC>ATA p.I214I NM_017504 NP_059974 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, 214 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TTTCAGTTATCATACTTTCCT 0.473 17 43 --- --- --- --- PASS OR14C36 127066 broad.mit.edu 37 1 248512452 248512452 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:248512452C>A uc010pzl.1 + 1 376 c.376C>A c.(376-378)CAG>AAG p.Q126K NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, 126 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 GGCTGTCTGCCAGCCACTTCA 0.512 10 36 --- --- --- --- PASS OR2T11 127077 broad.mit.edu 37 1 248790376 248790376 + Missense_Mutation SNP A T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr1:248790376A>T uc001ier.1 - 1 54 c.54T>A c.(52-54)AGT>AGA p.S18R NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, 18 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CGGCAGCCTCACTGTTCACCA 0.527 4 46 --- --- --- --- PASS SNTG2 54221 broad.mit.edu 37 2 1168792 1168792 + Missense_Mutation SNP T A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:1168792T>A uc002qwq.2 + 8 642 c.514T>A c.(514-516)TCC>ACC p.S172T SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 172 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CCCAGGGCCATCCAGCGACCA 0.512 5 117 --- --- --- --- PASS ALLC 55821 broad.mit.edu 37 2 3727473 3727473 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:3727473G>T uc010ewt.2 + 5 348 c.187G>T c.(187-189)GTC>TTC p.V63F NM_018436 NP_060906 Q8N6M5 ALLC_HUMAN allantoicase isoform a 82 allantoicase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) CGACTGGTGTGTCCTCAGGCT 0.572 HNSCC(21;0.051) 13 64 --- --- --- --- PASS SOS1 6654 broad.mit.edu 37 2 39224462 39224462 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:39224462C>G uc002rrk.3 - 18 2937 c.2896G>C c.(2896-2898)GAA>CAA p.E966Q SOS1_uc002rrj.3_Missense_Mutation_p.E580Q NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 966 Ras-GEF. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) CCTGTTATTTCTGCTACTTTC 0.343 Noonan_syndrome 23 106 --- --- --- --- PASS SLC3A1 6519 broad.mit.edu 37 2 44513255 44513255 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:44513255G>T uc002ruc.3 + 4 928 c.850G>T c.(850-852)GAT>TAT p.D284Y SLC3A1_uc002rty.2_Missense_Mutation_p.D284Y|SLC3A1_uc002rtz.2_Missense_Mutation_p.D284Y|SLC3A1_uc002rua.2_Missense_Mutation_p.D284Y|SLC3A1_uc002rub.2_Missense_Mutation_p.D284Y|SLC3A1_uc002rud.3_Missense_Mutation_p.D6Y NM_000341 NP_000332 Q07837 SLC31_HUMAN solute carrier family 3, member 1 284 Extracellular (Potential). carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity 0 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) AGAGCAACCTGATTTAAATTT 0.348 19 66 --- --- --- --- PASS ADD2 119 broad.mit.edu 37 2 70933427 70933427 + Silent SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:70933427C>A uc002sgz.2 - 3 579 c.114G>T c.(112-114)GCG>GCT p.A38A ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Silent_p.A38A|ADD2_uc002sha.2_Silent_p.A38A|ADD2_uc002sgx.2_Silent_p.A38A|ADD2_uc010fdt.1_Silent_p.A38A|ADD2_uc002shc.1_Silent_p.A38A|ADD2_uc002shd.1_Silent_p.A38A|ADD2_uc010fdu.1_Silent_p.A54A NM_001617 NP_001608 P35612 ADDB_HUMAN adducin 2 isoform a 38 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding ovary(2)|pancreas(1) 3 GCAGGTCCGCCGCCCGGTTGC 0.687 24 44 --- --- --- --- PASS REG3A 5068 broad.mit.edu 37 2 79384760 79384760 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:79384760C>A uc002sod.1 - 4 653 c.398G>T c.(397-399)TGG>TTG p.W133L REG3A_uc002soe.1_Missense_Mutation_p.W133L|REG3A_uc002sof.1_Missense_Mutation_p.W133L NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 133 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 ATTTCTCTCCCATGCAAAGTA 0.542 10 47 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89339943 89339943 + RNA SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:89339943G>T uc010ytr.1 - 64 c.5916C>A uc002stl.2_Intron Parts of antibodies, mostly variable regions. CCCGACAAGTGATGGTGACTC 0.498 15 66 --- --- --- --- PASS POTEF 728378 broad.mit.edu 37 2 130877988 130877988 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:130877988C>A uc010fmh.2 - 3 501 c.101G>T c.(100-102)TGC>TTC p.C34F NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 34 cell cortex ATP binding skin(3)|ovary(2) 5 CTCCCTGCAGCAGGGGAAGCA 0.577 45 78 --- --- --- --- PASS POTEE 445582 broad.mit.edu 37 2 132021760 132021760 + Missense_Mutation SNP A G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:132021760A>G uc002tsn.2 + 15 2784 c.2732A>G c.(2731-2733)GAC>GGC p.D911G PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.D511G|POTEE_uc002tsl.2_Missense_Mutation_p.D493G|POTEE_uc010fmy.1_Missense_Mutation_p.D375G NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 911 Actin-like. ATP binding 0 ATCGTGCGTGACATCAAAGAG 0.592 19 98 --- --- --- --- PASS FIGN 55137 broad.mit.edu 37 2 164466745 164466745 + Missense_Mutation SNP T A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:164466745T>A uc002uck.1 - 3 1908 c.1597A>T c.(1597-1599)ACA>TCA p.T533S NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 533 ATP (By similarity). nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 CCCAATAATGTTTTGCCTGTC 0.507 10 25 --- --- --- --- PASS SCN2A 6326 broad.mit.edu 37 2 166188042 166188042 + Silent SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:166188042G>A uc002udc.2 + 14 2642 c.2352G>A c.(2350-2352)ACG>ACA p.T784T SCN2A_uc002udd.2_Silent_p.T784T|SCN2A_uc002ude.2_Silent_p.T784T NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 784 II. myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) ATCCCATGACGGAGCAGTTCA 0.433 9 57 --- --- --- --- PASS SCN2A 6326 broad.mit.edu 37 2 166188044 166188044 + Missense_Mutation SNP A C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:166188044A>C uc002udc.2 + 14 2644 c.2354A>C c.(2353-2355)GAG>GCG p.E785A SCN2A_uc002udd.2_Missense_Mutation_p.E785A|SCN2A_uc002ude.2_Missense_Mutation_p.E785A NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 785 II. myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) CCCATGACGGAGCAGTTCAGC 0.433 9 55 --- --- --- --- PASS SCN9A 6335 broad.mit.edu 37 2 167141191 167141191 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:167141191C>G uc010fpl.2 - 12 2087 c.1746G>C c.(1744-1746)GAG>GAC p.E582D uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.E453D|SCN9A_uc002uds.1_Missense_Mutation_p.E453D|SCN9A_uc002udt.1_Missense_Mutation_p.E453D NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 582 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) CCCTTCTGCTCTCATTGTCTC 0.512 16 46 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168105274 168105274 + Missense_Mutation SNP A C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:168105274A>C uc002udx.2 + 8 7390 c.7372A>C c.(7372-7374)ACT>CCT p.T2458P XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.T2283P|XIRP2_uc010fpq.2_Missense_Mutation_p.T2236P|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2283 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 ATGTAAAATTACTACCTCAAA 0.388 14 50 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179414381 179414381 + Missense_Mutation SNP A T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:179414381A>T uc010zfg.1 - 287 84588 c.84364T>A c.(84364-84366)TAC>AAC p.Y28122N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y21817N|TTN_uc010zfi.1_Missense_Mutation_p.Y21750N|TTN_uc010zfj.1_Missense_Mutation_p.Y21625N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29049 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) CGGAATTGGTATTCATTGCCG 0.403 11 46 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179590301 179590301 + Missense_Mutation SNP A G G rs142794598 by1000genomes TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:179590301A>G uc010zfg.1 - 68 17122 c.16898T>C c.(16897-16899)ATA>ACA p.I5633T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I2294T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6560 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) GGCGCCTTCTATGGATGCTTG 0.428 13 39 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179613430 179613430 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:179613430G>T uc002unb.2 - 46 13921 c.13697C>A c.(13696-13698)GCT>GAT p.A4566D TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 699 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) TTCATGTTCAGCTCTTTTAGA 0.338 23 85 --- --- --- --- PASS SSFA2 6744 broad.mit.edu 37 2 182766615 182766615 + Nonsense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:182766615G>T uc002uoi.2 + 8 1157 c.835G>T c.(835-837)GAG>TAG p.E279* SSFA2_uc002uoh.2_Nonsense_Mutation_p.E279*|SSFA2_uc002uoj.2_Nonsense_Mutation_p.E279*|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Nonsense_Mutation_p.E126*|SSFA2_uc002uol.2_Nonsense_Mutation_p.E126* NM_001130445 NP_001123917 P28290 SSFA2_HUMAN sperm specific antigen 2 isoform 1 279 cytoplasm|plasma membrane actin binding breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0856) CTCTAACAAGGAGACAGACCC 0.423 10 28 --- --- --- --- PASS PLCL1 5334 broad.mit.edu 37 2 198949409 198949409 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:198949409G>C uc010fsp.2 + 2 1459 c.1168G>C c.(1168-1170)GAT>CAT p.D390H PLCL1_uc002uuv.3_Missense_Mutation_p.D311H NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 390 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) TGACATTTTTGATCCTGAGCA 0.393 22 79 --- --- --- --- PASS AOX1 316 broad.mit.edu 37 2 201523958 201523958 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:201523958C>T uc002uvx.2 + 28 3343 c.3242C>T c.(3241-3243)CCT>CTT p.P1081L AOX1_uc010zhf.1_Missense_Mutation_p.P637L|AOX1_uc010fsu.2_Missense_Mutation_p.P447L NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 1081 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GAAACTGTCCCTAATGCAAAT 0.448 5 47 --- --- --- --- PASS ZDBF2 57683 broad.mit.edu 37 2 207146627 207146627 + Silent SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:207146627G>T uc002vbp.2 + 3 304 c.54G>T c.(52-54)CTG>CTT p.L18L NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 18 DBF4-type. nucleic acid binding|zinc ion binding ovary(3) 3 ATAATAACCTGGAACAGGTGA 0.303 10 18 --- --- --- --- PASS SMARCAL1 50485 broad.mit.edu 37 2 217329374 217329374 + Missense_Mutation SNP A G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:217329374A>G uc002vgc.3 + 13 2455 c.2125A>G c.(2125-2127)AAA>GAA p.K709E SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.K709E|SMARCAL1_uc010fvg.2_Missense_Mutation_p.K687E NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN SWI/SNF-related matrix-associated 709 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity ovary(3)|breast(3)|skin(1) 7 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) AGCTGAAGCTAAAATCCCATC 0.383 Schimke_Immuno-Osseous_Dysplasia 4 102 --- --- --- --- PASS USP37 57695 broad.mit.edu 37 2 219346935 219346935 + Nonsense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:219346935G>A uc002vie.2 - 17 2146 c.1693C>T c.(1693-1695)CGA>TGA p.R565* USP37_uc010fvs.1_Nonsense_Mutation_p.R565*|USP37_uc010zkf.1_Nonsense_Mutation_p.R565*|USP37_uc002vif.2_Nonsense_Mutation_p.R565*|USP37_uc002vig.2_Nonsense_Mutation_p.R493* NM_020935 NP_065986 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 565 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(3)|ovary(1)|prostate(1) 5 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) AAGCTATATCGTTTCAAATGG 0.378 21 69 --- --- --- --- PASS GLB1L 79411 broad.mit.edu 37 2 220103844 220103844 + Silent SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:220103844C>T uc002vkm.2 - 11 1271 c.1032G>A c.(1030-1032)AAG>AAA p.K344K GLB1L_uc002vkk.2_Silent_p.K101K|GLB1L_uc010zkx.1_Silent_p.K254K|GLB1L_uc002vkn.2_Silent_p.K344K NM_024506 NP_078782 Q6UWU2 GLB1L_HUMAN galactosidase, beta 1-like precursor 344 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds 0 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAGCAAAAAGCTTAGGTGTGG 0.458 11 42 --- --- --- --- PASS SPEG 10290 broad.mit.edu 37 2 220346038 220346038 + Silent SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:220346038C>T uc010fwg.2 + 27 5382 c.5382C>T c.(5380-5382)ATC>ATT p.I1794I NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 1794 Protein kinase 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) TGACAGGAATCTCCCCGTTTG 0.582 11 42 --- --- --- --- PASS IRS1 3667 broad.mit.edu 37 2 227662074 227662074 + Nonsense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:227662074C>A uc002voh.3 - 1 1433 c.1381G>T c.(1381-1383)GAG>TAG p.E461* NM_005544 NP_005535 P35568 IRS1_HUMAN insulin receptor substrate 1 461 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) TTGCTTAGCTCCTCCTCACCG 0.622 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 109 --- --- --- --- PASS TM4SF20 79853 broad.mit.edu 37 2 228243943 228243943 + Silent SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:228243943G>A uc002vpb.2 - 1 80 c.42C>T c.(40-42)AGC>AGT p.S14S NM_024795 NP_079071 Q53R12 T4S20_HUMAN transmembrane 4 L six family member 20 14 Cytoplasmic (Potential). integral to membrane|plasma membrane 0 Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115) GAACCAGCAGGCTGAATCCAT 0.473 15 46 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228882946 228882946 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:228882946G>T uc002vpq.2 - 7 2671 c.2624C>A c.(2623-2625)GCT>GAT p.A875D SPHKAP_uc002vpp.2_Missense_Mutation_p.A875D|SPHKAP_uc010zlx.1_Missense_Mutation_p.A875D NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 875 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) ACTCTCCTCAGCCTCCTGGGA 0.507 153 631 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228884531 228884531 + Missense_Mutation SNP A T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:228884531A>T uc002vpq.2 - 7 1086 c.1039T>A c.(1039-1041)TCC>ACC p.S347T SPHKAP_uc002vpp.2_Missense_Mutation_p.S347T|SPHKAP_uc010zlx.1_Missense_Mutation_p.S347T NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 347 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) TCCATCATGGAGAAATAAGCA 0.433 31 97 --- --- --- --- PASS TRIP12 9320 broad.mit.edu 37 2 230659957 230659957 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:230659957G>C uc002vpw.1 - 25 3790 c.3681C>G c.(3679-3681)AGC>AGG p.S1227R TRIP12_uc002vpx.1_Missense_Mutation_p.S1275R|TRIP12_uc002vpy.1_Missense_Mutation_p.S957R NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1227 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) GTTCCATCTGGCTGAGGCAGT 0.468 15 51 --- --- --- --- PASS COPS7B 64708 broad.mit.edu 37 2 232660884 232660884 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:232660884C>G uc002vsg.1 + 5 499 c.396C>G c.(394-396)ATC>ATG p.I132M COPS7B_uc010fxy.1_Missense_Mutation_p.I98M|COPS7B_uc002vsh.1_Missense_Mutation_p.I132M|COPS7B_uc002vsi.1_Missense_Mutation_p.I25M|COPS7B_uc002vsj.1_RNA|COPS7B_uc002vsk.1_Missense_Mutation_p.I25M NM_022730 NP_073567 Q9H9Q2 CSN7B_HUMAN COP9 constitutive photomorphogenic homolog 132 PCI. cullin deneddylation cytoplasm|signalosome ovary(1)|liver(1)|skin(1) 3 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025) Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) AAGACCTTATCATTGAGGCTG 0.488 9 29 --- --- --- --- PASS PRR21 643905 broad.mit.edu 37 2 240982175 240982175 + Silent SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:240982175G>T uc010zod.1 - 1 225 c.225C>A c.(223-225)CCC>CCA p.P75P NM_001080835 NP_001074304 Q8WXC7 PRR21_HUMAN proline rich 21 75 Pro-rich. ovary(1)|skin(1) 2 GAAGGGACATGGGTGAAGAGC 0.607 7 19 --- --- --- --- PASS KIF1A 547 broad.mit.edu 37 2 241702689 241702689 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:241702689G>C uc002vzy.2 - 20 1962 c.1816C>G c.(1816-1818)CGC>GGC p.R606G KIF1A_uc010fzk.2_Missense_Mutation_p.R615G|KIF1A_uc002vzz.1_Missense_Mutation_p.R615G NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 606 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CAAGGCGTGCGCTCACGCTCC 0.632 3 6 --- --- --- --- PASS GAL3ST2 64090 broad.mit.edu 37 2 242741313 242741313 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr2:242741313C>A uc002wcj.1 + 3 368 c.237C>A c.(235-237)AAC>AAA p.N79K NM_022134 NP_071417 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 79 Lumenal (Potential). biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) AGACCCACAACCTGTCCGTGG 0.667 7 51 --- --- --- --- PASS IRAK2 3656 broad.mit.edu 37 3 10268100 10268100 + Nonsense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:10268100C>T uc003bve.1 + 10 1331 c.1255C>T c.(1255-1257)CGA>TGA p.R419* NM_001570 NP_001561 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 419 Protein kinase. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|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 cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity lung(5)|breast(3) 8 GGATAACAACCGAAGCCCGGT 0.542 5 11 --- --- --- --- PASS ATP2B2 491 broad.mit.edu 37 3 10413681 10413681 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:10413681C>A uc003bvt.2 - 12 1910 c.1471G>T c.(1471-1473)GGC>TGC p.G491C ATP2B2_uc003bvv.2_Missense_Mutation_p.G446C|ATP2B2_uc003bvw.2_Missense_Mutation_p.G446C|ATP2B2_uc010hdo.2_Missense_Mutation_p.G196C NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 491 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 GTGGCATTGCCCATGGTCTCA 0.557 17 26 --- --- --- --- PASS DOCK3 1795 broad.mit.edu 37 3 51308303 51308303 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:51308303G>A uc011bds.1 + 24 2436 c.2413G>A c.(2413-2415)GTG>ATG p.V805M NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 805 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding p.V805L(2) 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) AATGTTCACCGTGCAAGAGGT 0.522 3 38 --- --- --- --- PASS VPRBP 9730 broad.mit.edu 37 3 51452138 51452138 + Silent SNP A G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:51452138A>G uc003dbe.1 - 18 3945 c.3777T>C c.(3775-3777)AAT>AAC p.N1259N VPRBP_uc003dbf.1_Silent_p.N535N NM_014703 NP_055518 Q9Y4B6 VPRBP_HUMAN HIV-1 Vpr binding protein 1259 WD 5. interspecies interaction between organisms cytoplasm|nucleus protein binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) TGATGTTCATATTGAACTTGT 0.418 16 40 --- --- --- --- PASS PROS1 5627 broad.mit.edu 37 3 93603660 93603660 + Silent SNP T C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:93603660T>C uc003drb.3 - 12 1745 c.1404A>G c.(1402-1404)CAA>CAG p.Q468Q PROS1_uc010hoo.2_Silent_p.Q337Q|PROS1_uc003dqz.3_Silent_p.Q337Q NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 468 Laminin G-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TTTGTTTTTCTTGAATAATTT 0.353 12 49 --- --- --- --- PASS ZBTB11 27107 broad.mit.edu 37 3 101375038 101375038 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:101375038G>A uc003dve.3 - 7 2331 c.2101C>T c.(2101-2103)CAT>TAT p.H701Y NM_014415 NP_055230 O95625 ZBT11_HUMAN zinc finger protein ZNF-U69274 701 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 TGTGATTGATGAAGACTCTGA 0.363 12 42 --- --- --- --- PASS MYH15 22989 broad.mit.edu 37 3 108107918 108107918 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:108107918G>T uc003dxa.1 - 39 5551 c.5494C>A c.(5494-5496)CGT>AGT p.R1832S NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 1832 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 TCCAGTTCACGAACCTGCAAC 0.517 13 74 --- --- --- --- PASS SLC9A10 285335 broad.mit.edu 37 3 111927206 111927206 + Missense_Mutation SNP C T T rs142600000 TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:111927206C>T uc003dyu.2 - 16 2027 c.1805G>A c.(1804-1806)CGT>CAT p.R602H SLC9A10_uc011bhu.1_Intron|SLC9A10_uc010hqc.2_Missense_Mutation_p.R554H NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN sperm-specific sodium proton exchanger 602 Ion transport-like. cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ovary(3)|breast(2) 5 ATGGCATATACGAAAAAAGAA 0.274 23 81 --- --- --- --- PASS CCDC52 152185 broad.mit.edu 37 3 113184568 113184568 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:113184568G>A uc003eag.3 - 11 1510 c.1219C>T c.(1219-1221)CAT>TAT p.H407Y CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.H303Y NM_144718 NP_653319 Q8N0Z3 SPICE_HUMAN coiled-coil domain containing 52 407 Potential. cell division|mitosis centriole|spindle protein binding 0 AGCTCTCGATGATCACCTAAT 0.388 13 81 --- --- --- --- PASS SIDT1 54847 broad.mit.edu 37 3 113286437 113286437 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:113286437C>T uc003eak.2 + 3 1046 c.395C>T c.(394-396)TCA>TTA p.S132L SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.S132L|SIDT1_uc011big.1_5'UTR NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 precursor 132 Extracellular (Potential). integral to membrane ovary(3)|pancreas(1)|skin(1) 5 TTATGTCCCTCAGAAGCAACC 0.473 24 123 --- --- --- --- PASS IGSF11 152404 broad.mit.edu 37 3 118649069 118649069 + Silent SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:118649069G>T uc003ebw.2 - 2 353 c.106C>A c.(106-108)CGG>AGG p.R36R IGSF11_uc011biv.1_Silent_p.R36R|IGSF11_uc003ebx.2_Silent_p.R36R|IGSF11_uc003eby.2_Silent_p.R35R|IGSF11_uc003ebz.2_Silent_p.R35R|IGSF11_uc010hqs.2_Silent_p.R35R NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 isoform b 36 Ig-like V-type.|Extracellular (Potential). cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity 0 GGCTGACCCCGGGCCACCTGG 0.552 20 53 --- --- --- --- PASS KALRN 8997 broad.mit.edu 37 3 124165652 124165652 + Missense_Mutation SNP A C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:124165652A>C uc003ehg.2 + 21 3593 c.3466A>C c.(3466-3468)ACA>CCA p.T1156P KALRN_uc010hrv.1_Missense_Mutation_p.T1147P|KALRN_uc003ehf.1_Missense_Mutation_p.T1156P|KALRN_uc011bjy.1_Missense_Mutation_p.T1147P|KALRN_uc003ehh.1_Missense_Mutation_p.T502P NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 1156 Spectrin 5. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 TTACCTCTCAACACATACCTC 0.493 27 114 --- --- --- --- PASS C3orf37 56941 broad.mit.edu 37 3 129020813 129020813 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:129020813G>T uc003elt.2 + 6 744 c.656G>T c.(655-657)GGA>GTA p.G219V C3orf37_uc003elu.2_Missense_Mutation_p.G177V|C3orf37_uc003elv.2_Missense_Mutation_p.G219V|C3orf37_uc003elw.2_Missense_Mutation_p.G219V NM_020187 NP_064572 Q96FZ2 CC037_HUMAN hypothetical protein LOC56941 219 ovary(1) 1 ATATTAGATGGAGAGGAGGCA 0.473 48 70 --- --- --- --- PASS PRR23B 389151 broad.mit.edu 37 3 138739131 138739131 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:138739131C>A uc003esy.1 - 1 638 c.373G>T c.(373-375)GAC>TAC p.D125Y NM_001013650 NP_001013672 Q6ZRT6 PR23B_HUMAN proline rich 23B 125 breast(1) 1 AGGAAAACGTCCACTTCCAGC 0.632 24 44 --- --- --- --- PASS GPR171 29909 broad.mit.edu 37 3 150916843 150916843 + Missense_Mutation SNP C T T rs151172001 TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:150916843C>T uc003eyq.3 - 3 571 c.331G>A c.(331-333)GAC>AAC p.D111N MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron NM_013308 NP_037440 O14626 GP171_HUMAN G protein-coupled receptor 171 111 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled 0 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGACAGCGGTCAATGCTGACA 0.428 23 103 --- --- --- --- PASS P2RY1 5028 broad.mit.edu 37 3 152553988 152553988 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:152553988C>G uc003ezq.2 + 1 1253 c.417C>G c.(415-417)ATC>ATG p.I139M NM_002563 NP_002554 P47900 P2RY1_HUMAN purinergic receptor P2Y1 139 Helical; Name=3; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) ATGGCAGCATCTTGTTTCTGA 0.498 16 75 --- --- --- --- PASS IL12A 3592 broad.mit.edu 37 3 159711632 159711632 + Splice_Site SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:159711632G>C uc003fcx.2 + 6 821 c.606_splice c.e6+1 p.Q202_splice uc003fcw.1_Intron NM_000882 NP_000873 P29459 IL12A_HUMAN interleukin 12A precursor cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus interleukin-12 complex cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity 0 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GCTGATGCAGGTAAGACTTCA 0.413 12 190 --- --- --- --- PASS KPNA4 3840 broad.mit.edu 37 3 160219892 160219892 + Silent SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:160219892C>T uc003fdn.2 - 17 1872 c.1566G>A c.(1564-1566)TAG>TAA p.*522* NM_002268 NP_002259 O00629 IMA4_HUMAN karyopherin alpha 4 522 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding 0 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) CAACATCTTTCTAAAACTGGA 0.308 25 153 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164908292 164908292 + Silent SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:164908292C>T uc003fej.3 - 2 771 c.327G>A c.(325-327)GGG>GGA p.G109G SLITRK3_uc003fek.2_Silent_p.G109G NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 109 LRR 2.|Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 ATGCATTGTTCCCAAGATTAA 0.338 HNSCC(40;0.11) 12 93 --- --- --- --- PASS PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A G G rs121913279 TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:178952085A>G uc003fjk.2 + 21 3297 c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378 H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 62 57 --- --- --- --- PASS HTR3C 170572 broad.mit.edu 37 3 183777983 183777983 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:183777983G>C uc003fmk.2 + 9 1221 c.1187G>C c.(1186-1188)AGA>ACA p.R396T NM_130770 NP_570126 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine receptor 3 subunit C 396 Cytoplasmic (Potential). integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CTGGGACCCAGAGAGACCGAG 0.607 13 85 --- --- --- --- PASS EIF4G1 1981 broad.mit.edu 37 3 184039394 184039394 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:184039394C>A uc003fnp.2 + 10 1220 c.1022C>A c.(1021-1023)TCT>TAT p.S341Y EIF4G1_uc003fno.1_Missense_Mutation_p.S282Y|EIF4G1_uc010hxw.1_Missense_Mutation_p.S177Y|EIF4G1_uc003fnt.2_Missense_Mutation_p.S52Y|EIF4G1_uc003fnq.2_Missense_Mutation_p.S254Y|EIF4G1_uc003fnr.2_Missense_Mutation_p.S177Y|EIF4G1_uc010hxx.2_Missense_Mutation_p.S348Y|EIF4G1_uc003fns.2_Missense_Mutation_p.S301Y|EIF4G1_uc010hxy.2_Missense_Mutation_p.S348Y|EIF4G1_uc003fnv.3_Missense_Mutation_p.S341Y|EIF4G1_uc003fnu.3_Missense_Mutation_p.S341Y|EIF4G1_uc003fnw.2_Missense_Mutation_p.S348Y|EIF4G1_uc003fnx.2_Missense_Mutation_p.S145Y|EIF4G1_uc003fny.3_Missense_Mutation_p.S145Y NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 341 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCTGAGTTTTCTTCCAGTCCT 0.527 10 160 --- --- --- --- PASS MAP3K13 9175 broad.mit.edu 37 3 185169078 185169078 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:185169078G>C uc010hyf.2 + 8 1439 c.1173G>C c.(1171-1173)CAG>CAC p.Q391H MAP3K13_uc011brt.1_Missense_Mutation_p.Q184H|MAP3K13_uc003fph.3_Missense_Mutation_p.Q159H|MAP3K13_uc011bru.1_Missense_Mutation_p.Q247H|MAP3K13_uc003fpi.2_Missense_Mutation_p.Q391H|MAP3K13_uc010hyg.2_Missense_Mutation_p.Q81H NM_004721 NP_004712 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 391 Protein kinase. activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding ovary(2)|skin(1) 3 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) CTTTTAGGCAGAGTAAACCTC 0.373 15 87 --- --- --- --- PASS TRA2B 6434 broad.mit.edu 37 3 185641673 185641673 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:185641673C>A uc003fpv.2 - 4 709 c.433G>T c.(433-435)GCC>TCC p.A145S TRA2B_uc003fpt.2_RNA|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_Missense_Mutation_p.A45S|TRA2B_uc003fpw.2_Missense_Mutation_p.A145S NM_004593 NP_004584 P62995 TRA2B_HUMAN splicing factor, arginine/serine-rich 10 145 RRM. nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|protein binding|RNA binding ovary(2) 2 GACACATCGGCAATGGGACCA 0.403 17 101 --- --- --- --- PASS EIF4A2 1974 broad.mit.edu 37 3 186503789 186503789 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:186503789G>A uc003fqs.2 + 5 505 c.466G>A c.(466-468)GTT>ATT p.V156I EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Missense_Mutation_p.V157I|EIF4A2_uc003fqv.2_Missense_Mutation_p.V61I|EIF4A2_uc003fqw.2_Missense_Mutation_p.V61I|EIF4A2_uc011bsb.1_Missense_Mutation_p.V29I|MIR1248_hsa-mir-1248|MI0006383_5'Flank|SNORA81_uc010hyv.1_5'Flank|SNORA63_uc010hyw.1_5'Flank|SNORA4_uc010hyx.1_5'Flank NM_001967 NP_001958 Q14240 IF4A2_HUMAN eukaryotic translation initiation factor 4A2 156 Helicase ATP-binding. interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity ovary(2)|breast(2) 4 all_cancers(143;2.68e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.07e-20) GBM - Glioblastoma multiforme(93;0.0704) ACCACATATTGTTGTTGGTAC 0.383 T BCL6 NHL 7 161 --- --- --- --- PASS MASP1 5648 broad.mit.edu 37 3 186940936 186940936 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:186940936C>A uc003frh.1 - 14 2120 c.1788G>T c.(1786-1788)AGG>AGT p.R596S NM_001879 NP_001870 P48740 MASP1_HUMAN mannan-binding lectin serine protease 1 isoform 596 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity ovary(2)|breast(1)|liver(1) 4 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) TCTCTGGGAACCTTTGCAAGA 0.522 12 57 --- --- --- --- PASS ZDHHC19 131540 broad.mit.edu 37 3 195937563 195937563 + Silent SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:195937563G>A uc003fwc.2 - 2 306 c.192C>T c.(190-192)ATC>ATT p.I64I ZDHHC19_uc010hzz.2_RNA|ZDHHC19_uc010iaa.2_Intron|ZDHHC19_uc010iab.2_RNA NM_001039617 NP_001034706 Q8WVZ1 ZDH19_HUMAN zinc finger, DHHC domain containing 19 64 Helical; (Potential). integral to membrane acyltransferase activity|zinc ion binding ovary(3) 3 all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0022) GGGAGCCTGTGATAACAGGAA 0.582 10 51 --- --- --- --- PASS ZFYVE28 57732 broad.mit.edu 37 4 2274986 2274986 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr4:2274986G>T uc003gex.1 - 10 2556 c.2237C>A c.(2236-2238)GCC>GAC p.A746D ZFYVE28_uc011bvk.1_Missense_Mutation_p.A676D|ZFYVE28_uc011bvl.1_Missense_Mutation_p.A716D|ZFYVE28_uc003gew.1_Missense_Mutation_p.A632D NM_020972 NP_066023 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 746 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding skin(2)|ovary(1) 3 CAGGTCACTGGCATAGTTCGT 0.532 12 27 --- --- --- --- PASS CRMP1 1400 broad.mit.edu 37 4 5868476 5868476 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr4:5868476C>G uc003gip.2 - 3 148 c.47G>C c.(46-48)CGA>CCA p.R16P CRMP1_uc003gin.1_5'UTR|CRMP1_uc003giq.2_Missense_Mutation_p.R16P|CRMP1_uc003gir.2_Missense_Mutation_p.R11P|CRMP1_uc003gis.2_Missense_Mutation_p.R130P NM_001313 NP_001304 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 isoform 2 16 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding ovary(2) 2 Colorectal(103;0.0721) GATGAGGAGTCGGTCACTCTG 0.373 21 35 --- --- --- --- PASS CD38 952 broad.mit.edu 37 4 15839788 15839788 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr4:15839788G>A uc011bxc.1 + 5 766 c.659G>A c.(658-660)AGC>AAC p.S220N CD38_uc003gol.1_Missense_Mutation_p.S220N NM_001775 NP_001766 P28907 CD38_HUMAN CD38 antigen 220 Extracellular (Potential). B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug integral to membrane|plasma membrane binding|NAD+ nucleosidase activity|receptor activity ovary(2) 2 GACAAAAACAGGTACACATTT 0.368 5 20 --- --- --- --- PASS ANAPC4 29945 broad.mit.edu 37 4 25419243 25419243 + Missense_Mutation SNP A G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr4:25419243A>G uc003gro.2 + 28 2210 c.2081A>G c.(2080-2082)GAT>GGT p.D694G ANAPC4_uc003grp.2_Missense_Mutation_p.D580G|ANAPC4_uc003grq.2_Missense_Mutation_p.D147G NM_013367 NP_037499 Q9UJX5 APC4_HUMAN anaphase-promoting complex subunit 4 694 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity ovary(2)|large_intestine(1)|pancreas(1)|skin(1) 5 Breast(46;0.0503) TTTAGGCTAGATGAACAGTGT 0.413 23 72 --- --- --- --- PASS EXOC1 55763 broad.mit.edu 37 4 56737265 56737265 + Splice_Site SNP A G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr4:56737265A>G uc003hbe.1 + 7 990 c.832_splice c.e7-2 p.N278_splice EXOC1_uc003hbf.1_Splice_Site_p.N278_splice|EXOC1_uc003hbg.1_Splice_Site_p.N278_splice NM_018261 NP_060731 Q9NV70 EXOC1_HUMAN exocyst complex component 1 isoform 1 exocytosis|protein transport exocyst protein binding ovary(2)|skin(2)|lung(1)|central_nervous_system(1) 6 Glioma(25;0.08)|all_neural(26;0.101) CATATATTCTAGAACCACATG 0.413 11 47 --- --- --- --- PASS TMPRSS11B 132724 broad.mit.edu 37 4 69094472 69094472 + Silent SNP A G G rs34044450 byFrequency TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr4:69094472A>G uc003hdw.3 - 9 1213 c.1077T>C c.(1075-1077)GCT>GCC p.A359A NM_182502 NP_872308 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 359 Peptidase S1.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 GACATGCATCAGCTTCTCCTG 0.323 12 51 --- --- --- --- PASS UGT2A1 10941 broad.mit.edu 37 4 70462038 70462038 + Nonsense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr4:70462038G>T uc003hem.3 - 3 989 c.926C>A c.(925-927)TCA>TAA p.S309* UGT2A1_uc011caq.1_Intron|UGT2A1_uc010ihu.2_Intron|UGT2A1_uc010iht.2_Intron|UGT2A1_uc010ihs.2_Nonsense_Mutation_p.S310* NM_006798 NP_006789 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, 309 Extracellular (Potential). detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity|glucuronosyltransferase activity ovary(1) 1 TTTGACCATTGATCCCAGAGA 0.413 12 35 --- --- --- --- PASS C4orf35 85438 broad.mit.edu 37 4 71201608 71201608 + Silent SNP T A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr4:71201608T>A uc003hff.2 + 1 938 c.852T>A c.(850-852)ACT>ACA p.T284T NM_033122 NP_149113 Q96KC9 CABS1_HUMAN testis development protein NYD-SP26 284 flagellum calcium ion binding 0 all_hematologic(202;0.196) GGGAAGATACTCTGCTAACTG 0.428 15 40 --- --- --- --- PASS PRDM8 56978 broad.mit.edu 37 4 81124467 81124467 + Silent SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr4:81124467C>T uc010ijo.2 + 8 2690 c.1851C>T c.(1849-1851)ACC>ACT p.T617T PRDM8_uc003hmb.3_Silent_p.T617T|PRDM8_uc003hmc.3_Silent_p.T617T NM_020226 NP_064611 Q9NQV8 PRDM8_HUMAN PR domain containing 8 617 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 cCTCCTTCACCTCGCTGTGTC 0.338 5 14 --- --- --- --- PASS PRKG2 5593 broad.mit.edu 37 4 82126129 82126129 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr4:82126129C>A uc003hmh.2 - 1 87 c.73G>T c.(73-75)GCT>TCT p.A25S PRKG2_uc011cch.1_Missense_Mutation_p.A25S NM_006259 NP_006250 Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 25 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1) 7 TTCCGCAGAGCATCAGTGGTG 0.527 7 32 --- --- --- --- PASS HELQ 113510 broad.mit.edu 37 4 84342756 84342756 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr4:84342756C>G uc003hom.2 - 15 3088 c.2909G>C c.(2908-2910)GGA>GCA p.G970A HELQ_uc010ikb.2_Missense_Mutation_p.G903A|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA NM_133636 NP_598375 Q8TDG4 HELQ_HUMAN DNA helicase HEL308 970 ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|breast(1)|skin(1) 3 TGAGGCAGTTCCAGTGAGAAG 0.333 Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 4 24 --- --- --- --- PASS WDFY3 23001 broad.mit.edu 37 4 85750243 85750243 + Silent SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr4:85750243G>A uc003hpd.2 - 9 1278 c.870C>T c.(868-870)CTC>CTT p.L290L WDFY3_uc003hpf.2_Silent_p.L290L NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 290 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TGGAATCTTTGAGGAAACAAG 0.393 18 60 --- --- --- --- PASS HERC6 55008 broad.mit.edu 37 4 89358063 89358063 + Silent SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr4:89358063G>A uc011cdi.1 + 19 2607 c.2424G>A c.(2422-2424)TTG>TTA p.L808L HERC6_uc011cdj.1_Silent_p.L772L|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA NM_017912 NP_060382 Q8IVU3 HERC6_HUMAN hect domain and RLD 6 isoform 1 808 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity lung(3)|ovary(1)|kidney(1) 5 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) TTAGGAGTTTGCAAGAAGTTC 0.299 5 18 --- --- --- --- PASS MTTP 4547 broad.mit.edu 37 4 100534143 100534143 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr4:100534143C>A uc003hvc.3 + 16 2319 c.2063C>A c.(2062-2064)TCC>TAC p.S688Y MTTP_uc011cej.1_Missense_Mutation_p.S715Y NM_000253 NP_000244 P55157 MTP_HUMAN microsomal triglyceride transfer protein large 688 lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) AACCTTGACTCCTATGCTGGT 0.463 21 64 --- --- --- --- PASS PCDH10 57575 broad.mit.edu 37 4 134073621 134073621 + Silent SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr4:134073621C>A uc003iha.2 + 1 3152 c.2326C>A c.(2326-2328)CGG>AGG p.R776R PCDH10_uc003igz.2_Silent_p.R776R NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 776 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) CCGCCAAGCCCGGGCGCGCAA 0.602 8 16 --- --- --- --- PASS WDR17 116966 broad.mit.edu 37 4 177089850 177089850 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr4:177089850G>T uc003iuj.2 + 25 3291 c.3135G>T c.(3133-3135)ATG>ATT p.M1045I WDR17_uc003iuk.2_Missense_Mutation_p.M1021I|WDR17_uc003ium.3_Missense_Mutation_p.M1006I|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.M256I NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 1045 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TTCTTCTGATGATTCCTGATA 0.343 9 52 --- --- --- --- PASS ADAMTS16 170690 broad.mit.edu 37 5 5146538 5146538 + Silent SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr5:5146538C>G uc003jdl.2 + 3 609 c.471C>G c.(469-471)TCC>TCG p.S157S ADAMTS16_uc003jdk.1_Silent_p.S157S|ADAMTS16_uc003jdj.1_Silent_p.S157S NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 157 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 ACAGAAACTCCTCAGTGGCCC 0.537 21 150 --- --- --- --- PASS ADAMTS16 170690 broad.mit.edu 37 5 5209307 5209307 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr5:5209307G>T uc003jdl.2 + 10 1691 c.1553G>T c.(1552-1554)TGC>TTC p.C518F ADAMTS16_uc003jdk.1_Missense_Mutation_p.C518F|ADAMTS16_uc003jdj.1_Missense_Mutation_p.C518F NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 518 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 AACACACAGTGCAAGTGGCAG 0.443 24 138 --- --- --- --- PASS ADAMTS16 170690 broad.mit.edu 37 5 5239838 5239838 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr5:5239838C>A uc003jdl.2 + 16 2461 c.2323C>A c.(2323-2325)CGC>AGC p.R775S ADAMTS16_uc003jdk.1_Missense_Mutation_p.R775S NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 775 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CCGGAGTATCCGCATCTATGA 0.498 28 172 --- --- --- --- PASS SEMA5A 9037 broad.mit.edu 37 5 9122846 9122846 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr5:9122846C>A uc003jek.2 - 14 2415 c.1703G>T c.(1702-1704)CGC>CTC p.R568L NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 568 Extracellular (Potential).|TSP type-1 1. cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 GTCGCAGGAGCGGGTTCGACA 0.652 41 50 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 21854841 21854841 + Silent SNP A G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr5:21854841A>G uc010iuc.2 - 4 1043 c.585T>C c.(583-585)AGT>AGC p.S195S CDH12_uc011cno.1_Intron|CDH12_uc003jgk.2_Silent_p.S195S NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 195 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 CGACTCTGGCACTGTTTCCAT 0.408 HNSCC(59;0.17) 14 70 --- --- --- --- PASS CDH9 1007 broad.mit.edu 37 5 26886151 26886151 + Silent SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr5:26886151G>T uc003jgs.1 - 10 1723 c.1554C>A c.(1552-1554)CCC>CCA p.P518P CDH9_uc011cnv.1_Silent_p.P111P NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 518 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 TGTGACCTCGGGGAGGGTCAT 0.323 24 149 --- --- --- --- PASS RNASEN 29102 broad.mit.edu 37 5 31526589 31526589 + Missense_Mutation SNP T C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr5:31526589T>C uc003jhg.2 - 4 810 c.451A>G c.(451-453)ATG>GTG p.M151V RNASEN_uc003jhh.2_Missense_Mutation_p.M151V|RNASEN_uc003jhi.2_Missense_Mutation_p.M151V|RNASEN_uc010iui.1_Missense_Mutation_p.M142V NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 151 Pro-rich. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity 0 GGATGAGGCATGGAGGGAGGG 0.577 14 12 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33535065 33535065 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr5:33535065C>G uc003jia.1 - 23 4642 c.4479G>C c.(4477-4479)AAG>AAC p.K1493N ADAMTS12_uc010iuq.1_Missense_Mutation_p.K1408N NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1493 TSP type-1 8. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GGACAGTCCTCTTCTGAAAGC 0.473 HNSCC(64;0.19) 23 62 --- --- --- --- PASS IL7R 3575 broad.mit.edu 37 5 35861032 35861032 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr5:35861032C>T uc003jjs.2 + 2 250 c.161C>T c.(160-162)TCA>TTA p.S54L IL7R_uc011coo.1_Missense_Mutation_p.S54L|IL7R_uc011cop.1_RNA NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 54 Extracellular (Potential). immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity ovary(3)|breast(1)|skin(1) 5 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TCGCAGCACTCACTGACCTGT 0.458 28 186 --- --- --- --- PASS ERBB2IP 55914 broad.mit.edu 37 5 65349907 65349907 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr5:65349907G>C uc003juk.1 + 21 3069 c.2761G>C c.(2761-2763)GAT>CAT p.D921H ERBB2IP_uc003jui.1_Missense_Mutation_p.D921H|ERBB2IP_uc003juj.1_Missense_Mutation_p.D921H|ERBB2IP_uc011cqx.1_Missense_Mutation_p.D921H|ERBB2IP_uc011cqy.1_Missense_Mutation_p.D921H|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Missense_Mutation_p.D917H|ERBB2IP_uc003jul.1_Missense_Mutation_p.D917H NM_018695 NP_061165 Q96RT1 LAP2_HUMAN ERBB2 interacting protein isoform 2 921 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton ovary(3)|lung(2)|central_nervous_system(2) 7 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) ACTGTTGTATGATCAACCATT 0.378 224 443 --- --- --- --- PASS VCAN 1462 broad.mit.edu 37 5 82837411 82837411 + Missense_Mutation SNP T G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr5:82837411T>G uc003kii.3 + 8 8945 c.8589T>G c.(8587-8589)GAT>GAG p.D2863E VCAN_uc003kij.3_Missense_Mutation_p.D1876E|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.D1527E NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2863 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CCCCACAGGATTCTTTTAAGG 0.463 16 40 --- --- --- --- PASS MCTP1 79772 broad.mit.edu 37 5 94278092 94278092 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr5:94278092C>A uc003kkx.2 - 4 1021 c.1021G>T c.(1021-1023)GGC>TGC p.G341C MCTP1_uc003kkv.2_Missense_Mutation_p.G120C|MCTP1_uc003kkw.2_Missense_Mutation_p.G120C|MCTP1_uc003kkz.2_Missense_Mutation_p.G2C NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 isoform L 341 C2 1. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(2) 2 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) AAGGCTGAGCCCATAAAGTCA 0.333 7 24 --- --- --- --- PASS EGR1 1958 broad.mit.edu 37 5 137802653 137802653 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr5:137802653C>T uc003ldb.1 + 2 785 c.515C>T c.(514-516)TCC>TTC p.S172F EGR1_uc011cyu.1_Intron NM_001964 NP_001955 P18146 EGR1_HUMAN early growth response 1 172 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GCCTCCTCGTCCTCAGCACCA 0.647 32 61 --- --- --- --- PASS PCDHB16 57717 broad.mit.edu 37 5 140562948 140562948 + Nonsense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr5:140562948G>T uc003liv.2 + 1 1969 c.814G>T c.(814-816)GGA>TGA p.G272* PCDHB16_uc010jfw.1_Intron NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 272 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTAGACGGCGGAGCCAATGG 0.488 24 42 --- --- --- --- PASS PCDHB16 57717 broad.mit.edu 37 5 140562949 140562949 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr5:140562949G>T uc003liv.2 + 1 1970 c.815G>T c.(814-816)GGA>GTA p.G272V PCDHB16_uc010jfw.1_Intron NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 272 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTAGACGGCGGAGCCAATGGA 0.488 25 40 --- --- --- --- PASS DOCK2 1794 broad.mit.edu 37 5 169410135 169410135 + Missense_Mutation SNP T A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr5:169410135T>A uc003maf.2 + 28 2943 c.2863T>A c.(2863-2865)TAC>AAC p.Y955N DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.Y447N|FAM196B_uc003mag.2_5'Flank NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 955 Interaction with CRKL. 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) CTACTCCTTCTACATTGAGAC 0.468 16 47 --- --- --- --- PASS NSD1 64324 broad.mit.edu 37 5 176638561 176638561 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr5:176638561G>C uc003mfr.3 + 5 3299 c.3161G>C c.(3160-3162)AGA>ACA p.R1054T NSD1_uc003mft.3_Missense_Mutation_p.R785T|NSD1_uc003mfs.1_Missense_Mutation_p.R951T|NSD1_uc011dfx.1_Missense_Mutation_p.R702T NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1054 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GAGCGCAAAAGAAAACTGAAT 0.463 T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 22 61 --- --- --- --- PASS DBN1 1627 broad.mit.edu 37 5 176884733 176884733 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr5:176884733G>A uc003mgy.2 - 13 1974 c.1802C>T c.(1801-1803)TCA>TTA p.S601L DBN1_uc011dga.1_Missense_Mutation_p.S333L|DBN1_uc003mgx.2_Missense_Mutation_p.S603L|DBN1_uc010jkn.1_Missense_Mutation_p.S551L NM_004395 NP_004386 Q16643 DREB_HUMAN drebrin 1 isoform a 601 actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity actomyosin|cytoplasm|dendrite actin binding|profilin binding breast(3)|ovary(1)|lung(1)|skin(1) 6 all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTCCTCCTGTGATTGACTGAA 0.587 OREG0016462 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 27 --- --- --- --- PASS GRM6 2916 broad.mit.edu 37 5 178410091 178410091 + Silent SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr5:178410091G>T uc003mjr.2 - 9 2435 c.2256C>A c.(2254-2256)ATC>ATA p.I752I GRM6_uc003mjq.2_Silent_p.I155I NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 752 Helical; Name=5; (Potential). detection of visible light|visual perception integral to plasma membrane lung(4)|ovary(2)|breast(1)|pancreas(1) 8 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) CCAGGCAGCCGATGAGAGACA 0.632 6 57 --- --- --- --- PASS ADAMTS2 9509 broad.mit.edu 37 5 178559295 178559295 + Missense_Mutation SNP A T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr5:178559295A>T uc003mjw.2 - 15 2226 c.2226T>A c.(2224-2226)TTT>TTA p.F742L NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 742 Spacer. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CAGGGATCTCAAACATCTTGA 0.537 4 26 --- --- --- --- PASS BPHL 670 broad.mit.edu 37 6 3127490 3127490 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr6:3127490G>A uc003mva.2 + 3 275 c.226G>A c.(226-228)GAT>AAT p.D76N BPHL_uc003muz.2_RNA|BPHL_uc011dht.1_RNA|BPHL_uc003muy.2_Missense_Mutation_p.D59N NM_004332 NP_004323 Q86WA6 BPHL_HUMAN biphenyl hydrolase-like precursor 76 cellular amino acid metabolic process|response to toxin mitochondrion hydrolase activity 0 Ovarian(93;0.0386) all_hematologic(90;0.108) TGGAGAGACTGATTTTGGACC 0.463 14 38 --- --- --- --- PASS KIAA0319 9856 broad.mit.edu 37 6 24596652 24596652 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr6:24596652G>T uc011djo.1 - 3 487 c.250C>A c.(250-252)CAC>AAC p.H84N KIAA0319_uc011djp.1_Missense_Mutation_p.H39N|KIAA0319_uc003neh.1_Missense_Mutation_p.H84N|KIAA0319_uc011djq.1_Missense_Mutation_p.H75N|KIAA0319_uc011djr.1_Missense_Mutation_p.H84N NM_014809 NP_055624 Q5VV43 K0319_HUMAN KIAA0319 precursor 84 MANSC.|Extracellular (Potential). negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding ovary(1)|skin(1) 2 TTCTCTTTGTGGGGGCAGCTC 0.602 10 34 --- --- --- --- PASS LRRC16A 55604 broad.mit.edu 37 6 25581154 25581154 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr6:25581154G>A uc011djw.1 + 30 3121 c.2745G>A c.(2743-2745)ATG>ATA p.M915I LRRC16A_uc010jpx.2_Missense_Mutation_p.M915I|LRRC16A_uc010jpy.2_Missense_Mutation_p.M915I NM_017640 NP_060110 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 915 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 ATTTCTAGATGACCCCTAAAT 0.388 7 3 --- --- --- --- PASS HLA-A 3105 broad.mit.edu 37 6 29911898 29911898 + Splice_Site SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr6:29911898G>A uc003nol.2 + 4 620 c.620_splice c.e4-1 p.D207_splice HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Splice_Site_p.D86_splice|HLA-A_uc003nok.2_Splice_Site_p.D86_splice|HLA-A_uc003non.2_Splice_Site_p.D207_splice|HLA-A_uc003noo.2_Splice_Site_p.D207_splice|HLA-A_uc010jrr.2_Splice_Site_p.D207_splice|HLA-A_uc003nom.2_Splice_Site_p.D86_splice|HLA-A_uc010klp.2_Splice_Site_p.D179_splice|HLA-A_uc011dmc.1_Splice_Site_p.D86_splice|HLA-A_uc011dmd.1_Splice_Site_p.D86_splice NM_002116 NP_002107 P30443 1A01_HUMAN major histocompatibility complex, class I, A antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 CTTCCCGTCAGACCCCCCCAA 0.572 Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of Multiple Myeloma(9;0.094) 17 151 --- --- --- --- PASS BAT2 7916 broad.mit.edu 37 6 31599915 31599915 + Silent SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr6:31599915C>T uc003nvb.3 + 16 3714 c.3465C>T c.(3463-3465)GCC>GCT p.A1155A BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Silent_p.A1155A NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 1155 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding 0 GCTTCACTGCCCGGGGTGGGC 0.697 4 37 --- --- --- --- PASS NEU1 4758 broad.mit.edu 37 6 31828012 31828012 + Silent SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr6:31828012G>A uc003nxq.3 - 5 984 c.828C>T c.(826-828)GTC>GTT p.V276V NEU1_uc010jtg.2_RNA|NEU1_uc003nxr.3_Intron|NEU1_uc010jth.2_Silent_p.V107V|NEU1_uc003nxs.3_3'UTR NM_000434 NP_000425 Q99519 NEUR1_HUMAN neuraminidase precursor 276 cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane exo-alpha-sialidase activity|protein binding ovary(1) 1 Oseltamivir(DB00198)|Zanamivir(DB00558) GGGCATTGATGACGACTGAGC 0.577 5 30 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38941582 38941582 + Nonsense_Mutation SNP T A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr6:38941582T>A uc003ooe.1 + 82 12620 c.12020T>A c.(12019-12021)TTG>TAG p.L4007* DNAH8_uc003oog.1_Nonsense_Mutation_p.L456* NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 CCAATTACATTGCTTCAGGTT 0.388 6 35 --- --- --- --- PASS CCND3 896 broad.mit.edu 37 6 41903775 41903775 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr6:41903775G>C uc003orn.2 - 5 947 c.782C>G c.(781-783)ACC>AGC p.T261S CCND3_uc003orp.2_Missense_Mutation_p.T180S|CCND3_uc011duk.1_Missense_Mutation_p.T65S|CCND3_uc003orm.2_Missense_Mutation_p.T211S|CCND3_uc003oro.2_Missense_Mutation_p.T189S NM_001760 NP_001751 P30281 CCND3_HUMAN cyclin D3 isoform 2 261 cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding 0 Colorectal(47;0.121) Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GCTGGAGCTGGTCTGAGAGGC 0.637 T IGH@ MM 4 12 --- --- --- --- PASS C6orf226 441150 broad.mit.edu 37 6 42858257 42858257 + Silent SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr6:42858257C>G uc003osw.2 - 1 298 c.270G>C c.(268-270)GCG>GCC p.A90A NM_001008739 NP_001008739 Q5I0X4 CF226_HUMAN hypothetical protein LOC441150 90 0 AAGGCGCAGTCGCTGCCTCAA 0.672 15 33 --- --- --- --- PASS RUNX2 860 broad.mit.edu 37 6 45480080 45480080 + Silent SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr6:45480080C>A uc011dvx.1 + 7 1167 c.957C>A c.(955-957)ACC>ACA p.T319T RUNX2_uc011dvy.1_Silent_p.T319T|RUNX2_uc003oxt.2_Silent_p.T305T NM_001024630 NP_001019801 Q13950 RUNX2_HUMAN runt-related transcription factor 2 isoform a 319 Pro/Ser/Thr-rich. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 ACTCTACCACCCCGCTGTCTT 0.587 15 48 --- --- --- --- PASS IL17F 112744 broad.mit.edu 37 6 52103543 52103543 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr6:52103543G>T uc003pam.1 - 2 310 c.239C>A c.(238-240)TCC>TAC p.S80Y IL17F_uc003pal.1_Missense_Mutation_p.S26Y NM_052872 NP_443104 Q96PD4 IL17F_HUMAN interleukin 17F precursor 80 cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|cytokine binding|protein homodimerization activity ovary(1) 1 Lung NSC(77;0.116) ATTCCAGGGGGAGGTGGAGCG 0.418 11 19 --- --- --- --- PASS CGA 1081 broad.mit.edu 37 6 87796149 87796149 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr6:87796149C>T uc003plj.1 - 3 193 c.92G>A c.(91-93)TGC>TAC p.C31Y NM_000735 NP_000726 P01215 GLHA_HUMAN glycoprotein hormones, alpha polypeptide 31 hormone biosynthetic process|peptide hormone processing|signal transduction extracellular region|soluble fraction hormone activity ovary(1) 1 all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102) BRCA - Breast invasive adenocarcinoma(108;0.0484) GCATTCTGGGCAATCTATCAG 0.368 21 51 --- --- --- --- PASS C6orf174 387104 broad.mit.edu 37 6 127797194 127797194 + Silent SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr6:127797194C>A uc003qbd.2 - 6 2842 c.1977G>T c.(1975-1977)CTG>CTT p.L659L C6orf174_uc003qbc.2_5'Flank NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 659 Potential. integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) CGTTCCTCCGCAGCAGCTCCG 0.647 17 26 --- --- --- --- PASS LAMA2 3908 broad.mit.edu 37 6 129828633 129828633 + Splice_Site SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr6:129828633G>A uc003qbn.2 + 61 8809 c.8704_splice c.e61-1 p.V2902_splice LAMA2_uc003qbo.2_Splice_Site_p.V2898_splice|uc003qbq.2_Intron NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TGAATGTTTAGGTGACCTATA 0.458 17 55 --- --- --- --- PASS EYA4 2070 broad.mit.edu 37 6 133783575 133783575 + Silent SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr6:133783575C>A uc003qec.3 + 8 998 c.540C>A c.(538-540)GCC>GCA p.A180A EYA4_uc011ecq.1_Silent_p.A126A|EYA4_uc011ecr.1_Silent_p.A126A|EYA4_uc003qed.3_Silent_p.A180A|EYA4_uc003qee.3_Silent_p.A157A|EYA4_uc011ecs.1_Silent_p.A180A|uc003qef.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a 180 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity large_intestine(2) 2 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) TCTACACAGCCTACTCACAGA 0.502 38 39 --- --- --- --- PASS BCLAF1 9774 broad.mit.edu 37 6 136582558 136582558 + Missense_Mutation SNP T C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr6:136582558T>C uc003qgx.1 - 12 2855 c.2602A>G c.(2602-2604)ACT>GCT p.T868A BCLAF1_uc011edb.1_Missense_Mutation_p.T147A|BCLAF1_uc003qgw.1_Missense_Mutation_p.T695A|BCLAF1_uc003qgy.1_Missense_Mutation_p.T817A|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.T866A NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 868 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) CGTTGAAAAGTACCACGACCT 0.413 28 260 --- --- --- --- PASS KIAA1244 57221 broad.mit.edu 37 6 138584068 138584068 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr6:138584068G>A uc003qhu.2 + 12 1448 c.1448G>A c.(1447-1449)CGG>CAG p.R483Q NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 483 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CGCTGGCAGCGGCGAGTGCTG 0.592 3 2 --- --- --- --- PASS VTA1 51534 broad.mit.edu 37 6 142491526 142491526 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr6:142491526G>T uc003qiw.2 + 4 394 c.379G>T c.(379-381)GTC>TTC p.V127F VTA1_uc011edt.1_RNA|VTA1_uc011edu.1_Missense_Mutation_p.V69F NM_016485 NP_057569 Q9NP79 VTA1_HUMAN Vps20-associated 1 homolog 127 Interaction with IST1. cellular membrane organization|endosome transport|protein transport cytosol|endosome membrane protein binding 0 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182) TTTGATAGATGTCATAACAGT 0.313 63 63 --- --- --- --- PASS ULBP1 80329 broad.mit.edu 37 6 150291161 150291161 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr6:150291161C>G uc003qnp.2 + 4 678 c.635C>G c.(634-636)TCT>TGT p.S212C NM_025218 NP_079494 Q9BZM6 N2DL1_HUMAN UL16 binding protein 1 precursor 212 antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response anchored to membrane|endoplasmic reticulum|MHC class I protein complex MHC class I receptor activity pancreas(1) 1 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.14e-11) GAACCACCCTCTCTGGCCCCA 0.562 7 5 --- --- --- --- PASS RADIL 55698 broad.mit.edu 37 7 4839816 4839816 + Silent SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr7:4839816G>A uc003snj.1 - 13 3141 c.2968C>T c.(2968-2970)CTG>TTG p.L990L RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Silent_p.L495L|RADIL_uc011jwc.1_Silent_p.L750L|RADIL_uc011jwd.1_RNA|RADIL_uc003snh.1_Silent_p.L286L NM_018059 NP_060529 Q96JH8 RADIL_HUMAN Rap GTPase interactor 990 PDZ. cell adhesion|multicellular organismal development|signal transduction protein binding lung(2)|central_nervous_system(2)|pancreas(2)|breast(1) 7 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CCGTCGATCAGGCCCATCCCC 0.697 5 13 --- --- --- --- PASS NUDCD3 23386 broad.mit.edu 37 7 44432005 44432005 + Missense_Mutation SNP T A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr7:44432005T>A uc003tkz.2 - 5 1052 c.866A>T c.(865-867)AAC>ATC p.N289I NUDCD3_uc010kye.2_RNA NM_015332 NP_056147 Q8IVD9 NUDC3_HUMAN NudC domain containing 3 289 0 GCGCTCCTTGTTGATCTTGTC 0.577 22 72 --- --- --- --- PASS POM121 9883 broad.mit.edu 37 7 72400523 72400523 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr7:72400523C>A uc003twk.2 + 5 1149 c.1149C>A c.(1147-1149)GAC>GAA p.D383E POM121_uc003twj.2_Missense_Mutation_p.D118E|POM121_uc010lam.1_Missense_Mutation_p.D118E NM_172020 NP_742017 Q96HA1 P121A_HUMAN nuclear pore membrane protein 121 383 Ser-rich.|Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore 0 Lung NSC(55;0.163) GCTCAGATGACCACTTGAATA 0.468 3 93 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82583224 82583224 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr7:82583224C>A uc003uhx.2 - 5 7334 c.7045G>T c.(7045-7047)GCC>TCC p.A2349S PCLO_uc003uhv.2_Missense_Mutation_p.A2349S|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2280 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 ATTGGAAGGGCTATTACAGAA 0.433 22 51 --- --- --- --- PASS MTERF 7978 broad.mit.edu 37 7 91503548 91503548 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr7:91503548C>G uc003ulb.1 - 2 604 c.560G>C c.(559-561)GGA>GCA p.G187A MTERF_uc010let.1_Intron|MTERF_uc003ulc.1_Missense_Mutation_p.G187A|MTERF_uc011khm.1_Missense_Mutation_p.G167A|MTERF_uc010leu.1_Missense_Mutation_p.G167A NM_006980 NP_008911 Q99551 MTERF_HUMAN mitochondrial transcription termination factor 187 DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription mitochondrial nucleoid double-stranded DNA binding 0 all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176) ACGGGTCAATCCAACTGAGTA 0.373 15 34 --- --- --- --- PASS CASD1 64921 broad.mit.edu 37 7 94163055 94163055 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr7:94163055C>A uc003uni.3 + 7 796 c.569C>A c.(568-570)TCC>TAC p.S190Y CASD1_uc003unh.2_Missense_Mutation_p.S190Y|CASD1_uc003unj.3_Missense_Mutation_p.S190Y NM_022900 NP_075051 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 precursor 190 integral to membrane ovary(2) 2 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) AACATCACCTCCATAGCACCA 0.323 5 73 --- --- --- --- PASS ZNF498 221785 broad.mit.edu 37 7 99227070 99227070 + Silent SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr7:99227070G>T uc003url.1 + 8 1389 c.1062G>T c.(1060-1062)GGG>GGT p.G354G ZNF498_uc003urm.1_Silent_p.G190G|ZNF498_uc010lge.1_Silent_p.G190G|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Silent_p.G282G|ZNF498_uc003uro.1_Silent_p.G138G NM_145115 NP_660090 Q6NSZ9 ZN498_HUMAN zinc finger and SCAN domain containing 25 354 C2H2-type 1. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) CTGAGTGTGGGAAAGGATTCA 0.587 10 43 --- --- --- --- PASS BCAP29 55973 broad.mit.edu 37 7 107224331 107224331 + Nonsense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr7:107224331C>T uc003vej.2 + 3 436 c.97C>T c.(97-99)CAG>TAG p.Q33* BCAP29_uc011kly.1_5'UTR|BCAP29_uc011klz.1_Nonsense_Mutation_p.Q33*|BCAP29_uc011kma.1_Nonsense_Mutation_p.Q33* NM_018844 NP_061332 Q9UHQ4 BAP29_HUMAN B-cell receptor-associated protein BAP29 isoform 33 Cytoplasmic (Potential). apoptosis|intracellular protein transport|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane large_intestine(1)|ovary(1) 2 TTACAGATGGCAGAAGATTTT 0.264 14 43 --- --- --- --- PASS PAX4 5078 broad.mit.edu 37 7 127253085 127253085 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr7:127253085G>C uc010lld.1 - 6 888 c.682C>G c.(682-684)CAG>GAG p.Q228E PAX4_uc003vmf.2_Missense_Mutation_p.Q226E|PAX4_uc003vmg.1_Missense_Mutation_p.Q228E|PAX4_uc003vmh.2_Missense_Mutation_p.Q226E NM_006193 NP_006184 O43316 PAX4_HUMAN paired box 4 236 cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CCTGGCAGCTGCATTTCCCAC 0.388 7 13 --- --- --- --- PASS FLNC 2318 broad.mit.edu 37 7 128480920 128480920 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr7:128480920G>C uc003vnz.3 + 11 1918 c.1709G>C c.(1708-1710)GGA>GCA p.G570A FLNC_uc003voa.3_Missense_Mutation_p.G570A NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 570 Filamin 4. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 CCAGAGGCAGGAGTGCAAAAG 0.627 6 15 --- --- --- --- PASS MGAM 8972 broad.mit.edu 37 7 141750562 141750562 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr7:141750562G>T uc003vwy.2 + 24 2757 c.2703G>T c.(2701-2703)GAG>GAT p.E901D NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 901 Lumenal (Potential).|Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CATTTAATGAGATTAAAATTC 0.388 10 30 --- --- --- --- PASS TAS2R39 259285 broad.mit.edu 37 7 142880888 142880888 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr7:142880888G>T uc011ksw.1 + 1 377 c.377G>T c.(376-378)TGG>TTG p.W126L NM_176881 NP_795362 P59534 T2R39_HUMAN taste receptor, type 2, member 39 126 Helical; Name=3; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity skin(1) 1 Melanoma(164;0.059) TGTAGCCTGTGGTTTGCTGCC 0.378 23 73 --- --- --- --- PASS INTS10 55174 broad.mit.edu 37 8 19677966 19677966 + Silent SNP A G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr8:19677966A>G uc003wzj.2 + 4 509 c.378A>G c.(376-378)TTA>TTG p.L126L NM_018142 NP_060612 Q9NVR2 INT10_HUMAN integrator complex subunit 10 126 snRNA processing integrator complex protein binding ovary(1) 1 Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215) TCAACACGTTAGAACGATCAG 0.403 22 42 --- --- --- --- PASS ADAM7 8756 broad.mit.edu 37 8 24298630 24298630 + Silent SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr8:24298630C>T uc003xeb.2 + 1 122 c.9C>T c.(7-9)CCC>CCT p.P3P ADAM7_uc003xea.1_Silent_p.P3P NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN a disintegrin and metalloproteinase domain 7 3 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding skin(3)|ovary(1)|kidney(1) 5 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) GAATGCTTCCCGGGTGTATAT 0.428 20 73 --- --- --- --- PASS DOCK5 80005 broad.mit.edu 37 8 25234921 25234921 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr8:25234921C>T uc003xeg.2 + 38 4054 c.3917C>T c.(3916-3918)TCA>TTA p.S1306L PPP2R2A_uc003xek.2_Missense_Mutation_p.S95L|DOCK5_uc003xei.2_Missense_Mutation_p.S876L|DOCK5_uc003xej.2_RNA NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1306 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) GAAATCATATCATATTTCGAC 0.353 7 16 --- --- --- --- PASS CHD7 55636 broad.mit.edu 37 8 61754539 61754539 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr8:61754539G>T uc003xue.2 + 21 5255 c.4778G>T c.(4777-4779)CGT>CTT p.R1593L NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1593 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) AAGCCACGGCGTCCCCAGGAT 0.483 4 8 --- --- --- --- PASS CHD7 55636 broad.mit.edu 37 8 61764685 61764685 + Missense_Mutation SNP A G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr8:61764685A>G uc003xue.2 + 29 6250 c.5773A>G c.(5773-5775)AAA>GAA p.K1925E NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1925 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) GCGCAGCTATAAAAGGCAACA 0.537 8 23 --- --- --- --- PASS ASPH 444 broad.mit.edu 37 8 62479831 62479831 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr8:62479831C>A uc003xuj.2 - 17 1465 c.1196G>T c.(1195-1197)CGT>CTT p.R399L ASPH_uc011leg.1_Missense_Mutation_p.R370L|ASPH_uc003xuo.2_Missense_Mutation_p.R380L NM_004318 NP_004309 Q12797 ASPH_HUMAN aspartate beta-hydroxylase isoform a 399 Lumenal (Potential). muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle ovary(3) 3 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) GATGGCTCCACGTAGCACCTC 0.498 11 44 --- --- --- --- PASS VPS13B 157680 broad.mit.edu 37 8 100146912 100146912 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr8:100146912C>G uc003yiv.2 + 9 1370 c.1259C>G c.(1258-1260)TCT>TGT p.S420C VPS13B_uc003yiw.2_Missense_Mutation_p.S420C|VPS13B_uc003yit.2_Missense_Mutation_p.S420C|VPS13B_uc003yiu.1_Missense_Mutation_p.S420C|VPS13B_uc003yix.1_5'Flank NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 420 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AAAGTAAAATCTAAAGAAGTA 0.254 7 32 --- --- --- --- PASS UBR5 51366 broad.mit.edu 37 8 103299699 103299699 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr8:103299699C>G uc003ykr.1 - 37 4952 c.4919G>C c.(4918-4920)AGA>ACA p.R1640T UBR5_uc003yks.1_Missense_Mutation_p.R1640T NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 1640 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) GACAACGCTTCTGCGCCCACT 0.458 11 37 --- --- --- --- PASS KIAA0196 9897 broad.mit.edu 37 8 126079918 126079918 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr8:126079918C>G uc003yrt.2 - 10 1523 c.1194G>C c.(1192-1194)CAG>CAC p.Q398H KIAA0196_uc011lir.1_Missense_Mutation_p.Q250H|KIAA0196_uc003yru.1_5'UTR NM_014846 NP_055661 Q12768 STRUM_HUMAN strumpellin 398 cell death WASH complex ovary(2) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CTGTTAGAATCTGGTCCTTGA 0.378 7 68 --- --- --- --- PASS KIAA0196 9897 broad.mit.edu 37 8 126085518 126085518 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr8:126085518G>C uc003yrt.2 - 9 1356 c.1027C>G c.(1027-1029)CAA>GAA p.Q343E KIAA0196_uc011lir.1_Missense_Mutation_p.Q195E NM_014846 NP_055661 Q12768 STRUM_HUMAN strumpellin 343 cell death WASH complex ovary(2) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) TTTAGAAATTGCTGCACTTGA 0.388 27 46 --- --- --- --- PASS OC90 729330 broad.mit.edu 37 8 133045387 133045387 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr8:133045387C>T uc003ytg.2 - 10 758 c.758G>A c.(757-759)AGG>AAG p.R253K OC90_uc011lix.1_Missense_Mutation_p.R253K NM_001080399 NP_001073868 Q02509 OC90_HUMAN otoconin 90 269 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity ovary(2)|skin(1) 3 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) AGCTGTAACCCTTGTTGCAAC 0.428 3 11 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139153476 139153476 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr8:139153476C>A uc003yuy.2 - 17 3926 c.3755G>T c.(3754-3756)GGA>GTA p.G1252V FAM135B_uc003yux.2_Missense_Mutation_p.G1153V|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1252 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GTACAGGGTTCCCAGGTGAGG 0.537 HNSCC(54;0.14) 9 32 --- --- --- --- PASS RPL8 6132 broad.mit.edu 37 8 146015201 146015201 + Silent SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr8:146015201C>T uc003zeb.2 - 6 873 c.762G>A c.(760-762)GAG>GAA p.E254E RPL8_uc003zdz.2_RNA|RPL8_uc003zea.2_Silent_p.E218E|RPL8_uc003zec.2_Silent_p.E254E NM_033301 NP_150644 P62917 RL8_HUMAN ribosomal protein L8 254 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit rRNA binding|structural constituent of ribosome 0 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.191) AGTTCTCTTTCTCCTGCACAG 0.597 44 200 --- --- --- --- PASS KIAA2026 158358 broad.mit.edu 37 9 5921399 5921399 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr9:5921399G>C uc003zjq.3 - 8 4813 c.4597C>G c.(4597-4599)CCT>GCT p.P1533A KIAA2026_uc010mht.2_Missense_Mutation_p.P708A NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 1533 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TGCAATGGAGGAGGAAGAGTT 0.403 4 173 --- --- --- --- PASS PTPRD 5789 broad.mit.edu 37 9 8317909 8317909 + Missense_Mutation SNP C G G rs139384612 TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr9:8317909C>G uc003zkk.2 - 45 6415 c.5704G>C c.(5704-5706)GAG>CAG p.E1902Q PTPRD_uc003zkp.2_Missense_Mutation_p.E1496Q|PTPRD_uc003zkq.2_Missense_Mutation_p.E1495Q|PTPRD_uc003zkr.2_Missense_Mutation_p.E1486Q|PTPRD_uc003zks.2_Missense_Mutation_p.E1495Q|PTPRD_uc003zkl.2_Missense_Mutation_p.E1893Q|PTPRD_uc003zkm.2_Missense_Mutation_p.E1889Q|PTPRD_uc003zkn.2_Missense_Mutation_p.E1491Q|PTPRD_uc003zko.2_Missense_Mutation_p.E1492Q NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1902 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CCCAGGTACTCTAGTGCGGCA 0.438 TSP Lung(15;0.13) 37 57 --- --- --- --- PASS FREM1 158326 broad.mit.edu 37 9 14788993 14788993 + Silent SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr9:14788993G>A uc003zlm.2 - 23 4691 c.4101C>T c.(4099-4101)TTC>TTT p.F1367F FREM1_uc010mic.2_Intron NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 1367 CSPG 9. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) GGTAGAAGGTGAAGCTATCTT 0.483 5 5 --- --- --- --- PASS C9orf131 138724 broad.mit.edu 37 9 35045721 35045721 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr9:35045721G>T uc003zvw.2 + 2 3124 c.3095G>T c.(3094-3096)CGC>CTC p.R1032L C9orf131_uc003zvu.2_Missense_Mutation_p.R984L|C9orf131_uc003zvv.2_Missense_Mutation_p.R959L|C9orf131_uc003zvx.2_Missense_Mutation_p.R997L NM_203299 NP_976044 Q5VYM1 CI131_HUMAN hypothetical protein LOC138724 isoform A 1032 0 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) CTGACCCCTCGCCACTGTAAG 0.562 4 88 --- --- --- --- PASS CD72 971 broad.mit.edu 37 9 35616043 35616043 + Silent SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr9:35616043C>A uc003zxb.2 - 5 709 c.585G>T c.(583-585)ACG>ACT p.T195T CD72_uc003zxc.1_5'UTR|CD72_uc010mkt.1_5'UTR|CD72_uc010mku.2_Silent_p.T195T|CD72_uc010mkv.2_3'UTR|CD72_uc010mkw.1_RNA NM_001782 NP_001773 P21854 CD72_HUMAN CD72 molecule 195 Extracellular (Potential). axon guidance|cell adhesion integral to plasma membrane receptor binding|sugar binding|transmembrane receptor activity 0 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) AGGTCTCCTTCGTCTTCTGTC 0.582 39 80 --- --- --- --- PASS PGM5 5239 broad.mit.edu 37 9 71006545 71006545 + Nonsense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr9:71006545C>T uc004agr.2 + 5 1022 c.793C>T c.(793-795)CAG>TAG p.Q265* NM_021965 NP_068800 Q15124 PGM5_HUMAN phosphoglucomutase 5 265 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity ovary(1)|pancreas(1) 2 CTTTGGAGGGCAGCACCCTGA 0.478 14 27 --- --- --- --- PASS ASTN2 23245 broad.mit.edu 37 9 119976666 119976666 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr9:119976666C>A uc004bjs.1 - 3 1087 c.986G>T c.(985-987)GGG>GTG p.G329V ASTN2_uc004bjr.1_Missense_Mutation_p.G329V|ASTN2_uc004bjt.1_Missense_Mutation_p.G329V NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 329 Cytoplasmic (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 CTTCTCTTCCCCTGGATGTCC 0.567 42 54 --- --- --- --- PASS FAM129B 64855 broad.mit.edu 37 9 130279138 130279138 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr9:130279138C>G uc004brh.2 - 8 1173 c.971G>C c.(970-972)CGA>CCA p.R324P FAM129B_uc004bri.2_Missense_Mutation_p.R311P|FAM129B_uc004brj.3_Missense_Mutation_p.R324P NM_022833 NP_073744 Q96TA1 NIBL1_HUMAN hypothetical protein LOC64855 isoform 1 324 protein binding 0 CTGCCTACCTCGGATCTTGCT 0.547 83 252 --- --- --- --- PASS NOTCH1 4851 broad.mit.edu 37 9 139393419 139393419 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr9:139393419C>A uc004chz.2 - 33 6112 c.6112G>T c.(6112-6114)GTG>TTG p.V2038L NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 2038 Cytoplasmic (Potential).|ANK 4. 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 p.V2038L(1)|p.V2039L(1) 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) ACATTGTTCACGGCGGCGGCC 0.617 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 66 75 --- --- --- --- PASS ATP5C1 509 broad.mit.edu 37 10 7844259 7844259 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr10:7844259G>T uc001iju.2 + 7 742 c.664G>T c.(664-666)GAT>TAT p.D222Y ATP5C1_uc009xiq.1_Missense_Mutation_p.D222Y|ATP5C1_uc010qbc.1_Missense_Mutation_p.D173Y|ATP5C1_uc001ijv.2_Missense_Mutation_p.D222Y NM_001001973 NP_001001973 P36542 ATPG_HUMAN ATP synthase, H+ transporting, mitochondrial F1 222 oxidative phosphorylation|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism 0 TGACGATATTGATGCTGACGT 0.393 3 19 --- --- --- --- PASS VIM 7431 broad.mit.edu 37 10 17271466 17271466 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr10:17271466C>A uc001iou.2 + 2 458 c.45C>A c.(43-45)TTC>TTA p.F15L uc001iot.1_RNA|VIM_uc001iov.1_Missense_Mutation_p.F15L|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.F15L|VIM_uc001ioy.1_Missense_Mutation_p.F15L|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.F15L|VIM_uc001ipc.1_Missense_Mutation_p.F15L NM_003380 NP_003371 P08670 VIME_HUMAN vimentin 15 Head. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 GCAGGATGTTCGGCGGCCCGG 0.741 4 13 --- --- --- --- PASS ABI1 10006 broad.mit.edu 37 10 27112098 27112098 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr10:27112098C>T uc001isx.2 - 2 421 c.254G>A c.(253-255)AGA>AAA p.R85K ABI1_uc001ite.2_Missense_Mutation_p.R85K|ABI1_uc010qdh.1_Missense_Mutation_p.R85K|ABI1_uc010qdi.1_Missense_Mutation_p.R85K|ABI1_uc001isy.2_Missense_Mutation_p.R85K|ABI1_uc001ita.2_Missense_Mutation_p.R85K|ABI1_uc001isz.2_Missense_Mutation_p.R85K|ABI1_uc001itb.2_Missense_Mutation_p.R102K|ABI1_uc001itc.2_Missense_Mutation_p.R85K|ABI1_uc010qdj.1_Missense_Mutation_p.R85K|ABI1_uc001itd.2_Missense_Mutation_p.R85K|ABI1_uc010qdk.1_Missense_Mutation_p.R85K NM_005470 NP_005461 Q8IZP0 ABI1_HUMAN abl-interactor 1 isoform a 85 t-SNARE coiled-coil homology. actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome cytoskeletal protein binding central_nervous_system(1) 1 AGACTCCATTCTCCGAAGCTG 0.368 25 78 --- --- --- --- PASS KIF5B 3799 broad.mit.edu 37 10 32317465 32317465 + Missense_Mutation SNP T G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr10:32317465T>G uc001iwe.3 - 15 2086 c.1616A>C c.(1615-1617)AAA>ACA p.K539T NM_004521 NP_004512 P33176 KINH_HUMAN kinesin family member 5B 539 stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(4) lung(4)|ovary(1) 5 Prostate(175;0.0137) TTCCTTAAGTTTCTGAAGCTC 0.353 17 65 --- --- --- --- PASS C10orf68 79741 broad.mit.edu 37 10 33015720 33015720 + Silent SNP A G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr10:33015720A>G uc001iwn.3 + 8 1022 c.549A>G c.(547-549)CAA>CAG p.Q183Q C10orf68_uc001iwl.1_Silent_p.Q191Q|C10orf68_uc001iwm.1_Silent_p.Q159Q|C10orf68_uc010qei.1_Silent_p.Q110Q|C10orf68_uc001iwo.3_5'Flank NM_024688 NP_078964 Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 183 skin(2)|ovary(1) 3 TCCAAATGCAAGAAAAGAAAA 0.289 3 20 --- --- --- --- PASS ITGB1 3688 broad.mit.edu 37 10 33199357 33199357 + Missense_Mutation SNP T C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr10:33199357T>C uc001iws.3 - 14 2094 c.1958A>G c.(1957-1959)AAT>AGT p.N653S ITGB1_uc001iwp.3_Missense_Mutation_p.N653S|ITGB1_uc001iwq.3_Missense_Mutation_p.N653S|ITGB1_uc001iwr.3_Missense_Mutation_p.N653S|ITGB1_uc001iwt.3_Missense_Mutation_p.N653S|ITGB1_uc001iwu.1_Missense_Mutation_p.N653S NM_133376 NP_596867 P05556 ITB1_HUMAN integrin beta 1 isoform 1A precursor 653 Extracellular (Potential). axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(717;1.34e-05)|Breast(68;0.0634) TTCTCCTTTATTGAAGGCTCT 0.343 18 36 --- --- --- --- PASS USP54 159195 broad.mit.edu 37 10 75277120 75277120 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr10:75277120G>C uc001juo.2 - 18 3081 c.3064C>G c.(3064-3066)CAA>GAA p.Q1022E USP54_uc010qkk.1_Missense_Mutation_p.Q204E|USP54_uc001juk.2_Missense_Mutation_p.Q110E|USP54_uc001jul.2_Missense_Mutation_p.Q110E|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA NM_152586 NP_689799 Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 1022 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(3)|lung(2)|kidney(1) 6 Prostate(51;0.0112) AGCTGTTCTTGAGCAATGCCT 0.547 14 70 --- --- --- --- PASS PDE6C 5146 broad.mit.edu 37 10 95399935 95399935 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr10:95399935G>C uc001kiu.3 + 12 1729 c.1591G>C c.(1591-1593)GAA>CAA p.E531Q NM_006204 NP_006195 P51160 PDE6C_HUMAN phosphodiesterase 6C 531 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding ovary(2)|kidney(1)|skin(1) 4 Colorectal(252;0.123) ACTGTTTTTTGAAATAAATGT 0.418 21 71 --- --- --- --- PASS ENTPD1 953 broad.mit.edu 37 10 97599541 97599541 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr10:97599541C>G uc001klh.3 + 3 562 c.238C>G c.(238-240)CAA>GAA p.Q80E ENTPD1_uc001kle.1_Missense_Mutation_p.Q87E|ENTPD1_uc001kli.3_Missense_Mutation_p.Q87E|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Missense_Mutation_p.Q92E|ENTPD1_uc010qok.1_Translation_Start_Site|ENTPD1_uc010qol.1_Translation_Start_Site|ENTPD1_uc010qom.1_Missense_Mutation_p.Q80E|ENTPD1_uc010qon.1_Translation_Start_Site|ENTPD1_uc009xva.2_Intron|ENTPD1_uc009xuz.2_RNA NM_001776 NP_001767 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 80 Extracellular (Potential). cell adhesion integral to plasma membrane ATP binding p.Q80*(1) ovary(3) 3 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) CGTGGTGCATCAAGTAGAAGA 0.473 13 68 --- --- --- --- PASS GBF1 8729 broad.mit.edu 37 10 104112241 104112241 + Missense_Mutation SNP A G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr10:104112241A>G uc001kux.1 + 7 790 c.550A>G c.(550-552)ACT>GCT p.T184A GBF1_uc001kuw.2_Missense_Mutation_p.T184A|GBF1_uc001kuy.1_Missense_Mutation_p.T184A|GBF1_uc001kuz.1_Missense_Mutation_p.T184A NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 184 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) CGCAGAGCACACTCTCGTAGA 0.498 OREG0020477 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 33 --- --- --- --- PASS FGFR2 2263 broad.mit.edu 37 10 123239480 123239480 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr10:123239480G>T uc010qtk.1 - 19 3004 c.2357C>A c.(2356-2358)ACA>AAA p.T786K FGFR2_uc010qtg.1_Missense_Mutation_p.T674K|FGFR2_uc010qth.1_Missense_Mutation_p.T671K|FGFR2_uc010qti.1_Intron|FGFR2_uc010qtj.1_Missense_Mutation_p.T787K|FGFR2_uc010qtl.1_Missense_Mutation_p.T670K|FGFR2_uc010qtm.1_Missense_Mutation_p.T669K|FGFR2_uc001lfg.3_Missense_Mutation_p.T394K|FGFR2_uc001lfk.1_RNA NM_000141 NP_000132 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 1 786 Cytoplasmic (Potential). angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1) 96 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) AGAACTTCTTGTGTCAGGGTA 0.448 5 Mis gastric. NSCLC|endometrial Crouzon|Pfeiffer|and Apert syndromes Apert_syndrome|Saethre-Chotzen_syndrome 18 52 --- --- --- --- PASS HTRA1 5654 broad.mit.edu 37 10 124268201 124268201 + Silent SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr10:124268201G>A uc001lgj.2 + 6 1163 c.1035G>A c.(1033-1035)TTG>TTA p.L345L NM_002775 NP_002766 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 precursor 345 Serine protease. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity 0 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) TTAACACTTTGAAAGTGACAG 0.473 36 106 --- --- --- --- PASS FRG2B 441581 broad.mit.edu 37 10 135440182 135440182 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr10:135440182G>T uc010qvg.1 - 1 118 c.65C>A c.(64-66)CCC>CAC p.P22H NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 22 nucleus 0 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) TTGGAAAGGGGGCTGGTCAGT 0.507 17 122 --- --- --- --- PASS DEAF1 10522 broad.mit.edu 37 11 654013 654013 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:654013C>A uc001lqq.1 - 11 2235 c.1542G>T c.(1540-1542)GAG>GAT p.E514D DEAF1_uc009ycf.1_RNA NM_021008 NP_066288 O75398 DEAF1_HUMAN deformed epidermal autoregulatory factor 1 514 MYND-type. embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|cytoplasm|extracellular region|nucleus protein binding|zinc ion binding 0 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) AGCCGGTGCACTCGCTCATAG 0.627 8 19 --- --- --- --- PASS OR52M1 119772 broad.mit.edu 37 11 4566688 4566688 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:4566688G>T uc010qyf.1 + 1 268 c.268G>T c.(268-270)GGT>TGT p.G90C NM_001004137 NP_001004137 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, 90 Extracellular (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) CTTCTGGTTCGGTGCTTGTGA 0.502 17 50 --- --- --- --- PASS C11orf16 56673 broad.mit.edu 37 11 8947274 8947274 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:8947274G>T uc001mhb.3 - 5 1064 c.940C>A c.(940-942)CAG>AAG p.Q314K C11orf16_uc001mhc.3_Missense_Mutation_p.Q314K NM_020643 NP_065694 Q9NQ32 CK016_HUMAN hypothetical protein LOC56673 314 upper_aerodigestive_tract(1)|pancreas(1) 2 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) GGCAAAAGCTGTGCTGTGGGC 0.567 4 69 --- --- --- --- PASS LRRC4C 57689 broad.mit.edu 37 11 40136891 40136891 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:40136891C>A uc001mxa.1 - 2 2916 c.952G>T c.(952-954)GAC>TAC p.D318Y LRRC4C_uc001mxc.1_Missense_Mutation_p.D314Y|LRRC4C_uc001mxd.1_Missense_Mutation_p.D314Y|LRRC4C_uc001mxb.1_Missense_Mutation_p.D314Y NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 318 LRRCT. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) GGGGCCATGTCTTTTATCCAC 0.488 6 31 --- --- --- --- PASS ALX4 60529 broad.mit.edu 37 11 44289133 44289133 + Nonsense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:44289133C>A uc001myb.2 - 3 921 c.817G>T c.(817-819)GAG>TAG p.E273* NM_021926 NP_068745 Q9H161 ALX4_HUMAN aristaless-like homeobox 4 273 Homeobox. hair follicle development 0 CCAAAACGCTCCCGCTTCCTC 0.587 11 21 --- --- --- --- PASS OR5L2 26338 broad.mit.edu 37 11 55595023 55595023 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:55595023C>G uc001nhy.1 + 1 329 c.329C>G c.(328-330)ACT>AGT p.T110S NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 110 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) TGTGGAGTCACTGAGGTCTTC 0.498 HNSCC(27;0.073) 32 96 --- --- --- --- PASS OR10AG1 282770 broad.mit.edu 37 11 55735343 55735343 + Silent SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:55735343C>T uc010rit.1 - 1 597 c.597G>A c.(595-597)ACG>ACA p.T199T NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 199 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) GAAATGGCACCGTGATAAACA 0.408 6 17 --- --- --- --- PASS OR5B2 390190 broad.mit.edu 37 11 58190006 58190006 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:58190006G>T uc010rkg.1 - 1 729 c.729C>A c.(727-729)TTC>TTA p.F243L NM_001005566 NP_001005566 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, 243 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) AGACTGCAGTGAAGTGAGAGG 0.448 9 29 --- --- --- --- PASS CPSF7 79869 broad.mit.edu 37 11 61196668 61196668 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:61196668C>G uc001nrq.2 - 2 174 c.40G>C c.(40-42)GAG>CAG p.E14Q SDHAF2_uc001nrt.2_5'Flank|CPSF7_uc001nro.2_Missense_Mutation_p.E14Q|CPSF7_uc001nrp.2_Missense_Mutation_p.E57Q|CPSF7_uc001nrr.2_Missense_Mutation_p.E14Q|CPSF7_uc001nrs.1_5'UTR|CPSF7_uc009ynp.2_Missense_Mutation_p.E14Q NM_001136040 NP_001129512 Q8N684 CPSF7_HUMAN pre-mRNA cleavage factor I, 59 kDa subunit 14 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 TTGAACTCCTCGTCAGCATAT 0.488 31 151 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62285078 62285078 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:62285078G>A uc001ntl.2 - 5 17111 c.16811C>T c.(16810-16812)TCT>TTT p.S5604F AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 5604 Gly-rich. nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) GTTGAGAGCAGAGGAGACTTG 0.537 53 120 --- --- --- --- PASS SF3B2 10992 broad.mit.edu 37 11 65827324 65827324 + Silent SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:65827324C>G uc001ogy.1 + 13 1513 c.1473C>G c.(1471-1473)CTC>CTG p.L491L NM_006842 NP_006833 Q13435 SF3B2_HUMAN splicing factor 3B subunit 2 491 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(2)|breast(1) 3 TGGTTCACCTCAAGGCCACTC 0.572 17 43 --- --- --- --- PASS NPAS4 266743 broad.mit.edu 37 11 66191496 66191496 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:66191496C>A uc001ohx.1 + 7 1311 c.1135C>A c.(1135-1137)CCT>ACT p.P379T NPAS4_uc010rpc.1_Missense_Mutation_p.P169T NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 379 transcription, DNA-dependent DNA binding|signal transducer activity 0 CCCCAGTGCTCCTGAACTGAG 0.542 32 119 --- --- --- --- PASS PPFIA1 8500 broad.mit.edu 37 11 70189808 70189808 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:70189808G>A uc001opo.2 + 15 1939 c.1741G>A c.(1741-1743)GCC>ACC p.A581T PPFIA1_uc001opn.1_Missense_Mutation_p.A581T|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 581 cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TTGGGAACGTGCCCAGCAAGC 0.413 4 118 --- --- --- --- PASS P4HA3 283208 broad.mit.edu 37 11 74013511 74013511 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:74013511C>G uc001ouz.2 - 3 513 c.470G>C c.(469-471)GGT>GCT p.G157A P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Missense_Mutation_p.G157A NM_182904 NP_878907 Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha III subunit 157 endoplasmic reticulum lumen iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity skin(1) 1 Breast(11;2.31e-05) CTGAAAGACACCTCGGGCCAG 0.562 22 88 --- --- --- --- PASS LRRC32 2615 broad.mit.edu 37 11 76372075 76372075 + Missense_Mutation SNP T A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:76372075T>A uc001oxq.3 - 3 805 c.562A>T c.(562-564)ATC>TTC p.I188F LRRC32_uc001oxr.3_Missense_Mutation_p.I188F|LRRC32_uc010rsf.1_Missense_Mutation_p.I188F NM_005512 NP_005503 Q14392 LRC32_HUMAN leucine rich repeat containing 32 precursor 188 Extracellular (Potential).|LRR 6. integral to plasma membrane 0 CCATCCTCGATGTCCATCAGC 0.622 13 49 --- --- --- --- PASS GDPD4 220032 broad.mit.edu 37 11 76969559 76969559 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:76969559C>A uc001oyf.2 - 10 987 c.736G>T c.(736-738)GAC>TAC p.D246Y NM_182833 NP_878253 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain 246 GDPD.|Extracellular (Potential). glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding skin(1) 1 AGGTCAAAGTCATGCATGAGG 0.478 20 83 --- --- --- --- PASS ODZ4 26011 broad.mit.edu 37 11 78380188 78380188 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:78380188C>G uc001ozl.3 - 32 7665 c.7202G>C c.(7201-7203)GGC>GCC p.G2401A ODZ4_uc001ozk.3_Missense_Mutation_p.G626A|ODZ4_uc009yvb.1_Missense_Mutation_p.G985A NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 2401 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 ACCATGGTAGCCTATGATGAT 0.517 10 20 --- --- --- --- PASS DLG2 1740 broad.mit.edu 37 11 83252873 83252873 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:83252873C>T uc001paj.2 - 15 1957 c.1654G>A c.(1654-1656)GAC>AAC p.D552N DLG2_uc001pai.2_Missense_Mutation_p.D449N|DLG2_uc010rsy.1_Missense_Mutation_p.D519N|DLG2_uc010rsz.1_Missense_Mutation_p.D552N|DLG2_uc010rta.1_Missense_Mutation_p.D552N|DLG2_uc001pak.2_Missense_Mutation_p.D657N|DLG2_uc010rtb.1_Missense_Mutation_p.D519N|DLG2_uc010rsw.1_Missense_Mutation_p.D34N|DLG2_uc010rsx.1_Missense_Mutation_p.D33N NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 552 SH3. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) AGCCCACTGTCCTTGCTCTTG 0.443 11 48 --- --- --- --- PASS C11orf54 28970 broad.mit.edu 37 11 93494785 93494785 + Nonsense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:93494785C>A uc009ywi.2 + 10 1210 c.879C>A c.(877-879)TAC>TAA p.Y293* C11orf54_uc001pef.2_Nonsense_Mutation_p.Y243*|C11orf54_uc001peg.2_Nonsense_Mutation_p.Y293*|C11orf54_uc001peh.2_Nonsense_Mutation_p.Y293*|C11orf54_uc001pei.2_Nonsense_Mutation_p.Y274*|C11orf54_uc001pej.2_Nonsense_Mutation_p.Y274*|C11orf54_uc001pek.2_Nonsense_Mutation_p.Y182* NM_014039 NP_054758 Q9H0W9 CK054_HUMAN hypothetical protein LOC28970 293 nucleus hydrolase activity, acting on ester bonds|protein binding|zinc ion binding 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) ATCTTGGATACTTCTTACCTG 0.378 12 60 --- --- --- --- PASS JRKL 8690 broad.mit.edu 37 11 96125203 96125203 + Nonsense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:96125203G>T uc009ywu.2 + 2 1642 c.1390G>T c.(1390-1392)GAG>TAG p.E464* CCDC82_uc001pfx.3_5'Flank|CCDC82_uc009ywr.2_5'Flank|CCDC82_uc009ywt.1_5'Flank|JRKL_uc001pfy.2_Nonsense_Mutation_p.E464* NM_003772 NP_003763 Q9Y4A0 JERKL_HUMAN jerky homolog-like 464 central nervous system development|regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) BRCA - Breast invasive adenocarcinoma(274;0.148) CAGTGAAAATGAGGAGGAGGA 0.408 7 16 --- --- --- --- PASS CNTN5 53942 broad.mit.edu 37 11 100141928 100141928 + Nonsense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:100141928G>T uc001pga.2 + 18 2608 c.2269G>T c.(2269-2271)GGA>TGA p.G757* CNTN5_uc001pfz.2_Nonsense_Mutation_p.G757*|CNTN5_uc001pgb.2_Nonsense_Mutation_p.G683*|CNTN5_uc010ruk.1_Nonsense_Mutation_p.G28* NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 757 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TATTGGGACAGGAGATCCAAG 0.458 10 25 --- --- --- --- PASS PGR 5241 broad.mit.edu 37 11 100920673 100920673 + Silent SNP T C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:100920673T>C uc001pgh.2 - 6 3218 c.2475A>G c.(2473-2475)TTA>TTG p.L825L PGR_uc001pgg.2_Silent_p.L206L|PGR_uc001pgi.2_Silent_p.L723L|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 825 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) TATTAAGAAGTAACAATACTT 0.328 10 34 --- --- --- --- PASS DYNC2H1 79659 broad.mit.edu 37 11 103029721 103029721 + Nonsense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:103029721C>G uc001pho.2 + 28 4487 c.4343C>G c.(4342-4344)TCA>TGA p.S1448* DYNC2H1_uc001phn.1_Nonsense_Mutation_p.S1448*|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 1448 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) ACCAACCCATCAGTGATTCAG 0.264 3 17 --- --- --- --- PASS DYNC2H1 79659 broad.mit.edu 37 11 103029734 103029734 + Silent SNP T A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:103029734T>A uc001pho.2 + 28 4500 c.4356T>A c.(4354-4356)TCT>TCA p.S1452S DYNC2H1_uc001phn.1_Silent_p.S1452S|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 1452 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TGATTCAGTCTCACCTGAAGA 0.254 3 14 --- --- --- --- PASS DYNC2H1 79659 broad.mit.edu 37 11 103029735 103029735 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:103029735C>T uc001pho.2 + 28 4501 c.4357C>T c.(4357-4359)CAC>TAC p.H1453Y DYNC2H1_uc001phn.1_Missense_Mutation_p.H1453Y|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 1453 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GATTCAGTCTCACCTGAAGAA 0.254 3 14 --- --- --- --- PASS PCSK7 9159 broad.mit.edu 37 11 117097964 117097964 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:117097964G>T uc001pqr.2 - 5 879 c.678C>A c.(676-678)AAC>AAA p.N226K NM_004716 NP_004707 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 226 Catalytic.|Extracellular (Potential). peptide hormone processing integral to Golgi membrane serine-type endopeptidase activity 0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) TGCCATGGTGGTTGCCATTCT 0.577 T IGH@ MLCLS 7 64 --- --- --- --- PASS CEP164 22897 broad.mit.edu 37 11 117241984 117241984 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:117241984G>C uc001prc.2 + 9 1101 c.954G>C c.(952-954)AAG>AAC p.K318N CEP164_uc001prb.2_Missense_Mutation_p.K318N|CEP164_uc010rxk.1_Missense_Mutation_p.K292N|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA NM_014956 NP_055771 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 318 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) AAAATGAGAAGAGTGAACCTA 0.542 18 72 --- --- --- --- PASS CXCR5 643 broad.mit.edu 37 11 118765034 118765034 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:118765034G>T uc001pue.3 + 2 891 c.781G>T c.(781-783)GCC>TCC p.A261S CXCR5_uc001puf.2_Missense_Mutation_p.A216S NM_001716 NP_001707 P32302 CXCR5_HUMAN Burkitt lymphoma receptor 1 isoform 1 261 Helical; Name=6; (Potential). B cell activation|cellular component movement integral to plasma membrane C-X-C chemokine receptor activity breast(1) 1 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) AGTCAGGGTGGCCATCCTGGT 0.632 5 22 --- --- --- --- PASS FLI1 2313 broad.mit.edu 37 11 128680809 128680809 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr11:128680809G>C uc010sbu.1 + 9 1626 c.1285G>C c.(1285-1287)GGA>CGA p.G429R FLI1_uc010sbt.1_Missense_Mutation_p.G236R|FLI1_uc010sbv.1_Missense_Mutation_p.G396R|FLI1_uc009zci.2_Missense_Mutation_p.G363R NM_002017 NP_002008 Q01543 FLI1_HUMAN Friend leukemia virus integration 1 429 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2266) bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2) 2273 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) CCCCACGGGGGGAATCTACCC 0.562 T EWSR1 Ewing sarcoma 6 22 --- --- --- --- PASS SLC6A13 6540 broad.mit.edu 37 12 344326 344326 + Missense_Mutation SNP G C C rs140808969 by1000genomes TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:344326G>C uc001qic.1 - 7 814 c.761C>G c.(760-762)ACG>AGG p.T254R SLC6A13_uc009zdj.1_Missense_Mutation_p.T254R|SLC6A13_uc010sdl.1_Missense_Mutation_p.T162R|SLC6A13_uc010sdm.1_Missense_Mutation_p.T135R NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter 254 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) CCCAGGCAACGTCACCCCTCG 0.542 16 40 --- --- --- --- PASS ERC1 23085 broad.mit.edu 37 12 1225120 1225120 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:1225120C>T uc001qjb.2 + 7 1731 c.1490C>T c.(1489-1491)TCA>TTA p.S497L ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.S469L|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_Intron|ERC1_uc001qjf.2_Missense_Mutation_p.S497L|ERC1_uc010sdv.1_Missense_Mutation_p.S245L|ERC1_uc009zdp.2_Missense_Mutation_p.S137L NM_178040 NP_829884 Q8IUD2 RB6I2_HUMAN RAB6-interacting protein 2 isoform epsilon 497 Potential. I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding ovary(2)|lung(2)|breast(1) 5 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) AACCAGTTCTCAGATAGTAAA 0.468 9 46 --- --- --- --- PASS DYRK4 8798 broad.mit.edu 37 12 4700464 4700464 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:4700464G>A uc001qmx.2 + 3 278 c.118G>A c.(118-120)GAG>AAG p.E40K DYRK4_uc009zeh.1_Missense_Mutation_p.E155K|DYRK4_uc001qmy.1_Missense_Mutation_p.E40K NM_003845 NP_003836 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 40 Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(2)|skin(1) 3 Colorectal(7;0.103) GACAGCGGCAGGTATGCCTTT 0.408 6 19 --- --- --- --- PASS IFFO1 25900 broad.mit.edu 37 12 6650740 6650740 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:6650740C>A uc001qpd.1 - 8 1546 c.1512G>T c.(1510-1512)ATG>ATT p.M504I IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_Missense_Mutation_p.M144I|IFFO1_uc001qpb.1_Missense_Mutation_p.M181I|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Missense_Mutation_p.M516I|IFFO1_uc001qpf.1_Missense_Mutation_p.M507I|IFFO1_uc001qoz.1_Missense_Mutation_p.M145I|IFFO1_uc001qpc.1_Missense_Mutation_p.M508I|IFFO1_uc001qpg.2_Missense_Mutation_p.M145I NM_080730 NP_542768 Q0D2I5 IFFO1_HUMAN intermediate filament family orphan isoform 2 504 intermediate filament 0 GGCCGCGCTTCATGCTGCACA 0.657 21 100 --- --- --- --- PASS PZP 5858 broad.mit.edu 37 12 9311032 9311032 + Missense_Mutation SNP A G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:9311032A>G uc001qvl.2 - 26 3307 c.3278T>C c.(3277-3279)CTC>CCC p.L1093P PZP_uc009zgl.2_Missense_Mutation_p.L879P NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 GGCATTGTTGAGCAGTGACCC 0.493 41 68 --- --- --- --- PASS PDE6H 5149 broad.mit.edu 37 12 15131001 15131001 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:15131001C>A uc001rcr.2 + 2 139 c.55C>A c.(55-57)CCA>ACA p.P19T NM_006205 NP_006196 Q13956 CNCG_HUMAN phosphodiesterase 6H 19 visual perception 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity ovary(1)|skin(1) 2 TCCTACCACCCCACGCAAAGG 0.507 6 31 --- --- --- --- PASS PDE6H 5149 broad.mit.edu 37 12 15131002 15131002 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:15131002C>G uc001rcr.2 + 2 140 c.56C>G c.(55-57)CCA>CGA p.P19R NM_006205 NP_006196 Q13956 CNCG_HUMAN phosphodiesterase 6H 19 visual perception 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity ovary(1)|skin(1) 2 CCTACCACCCCACGCAAAGGC 0.502 6 31 --- --- --- --- PASS SLCO1B1 10599 broad.mit.edu 37 12 21329714 21329714 + Missense_Mutation SNP A T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:21329714A>T uc001req.3 + 5 468 c.364A>T c.(364-366)AGG>TGG p.R122W NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 122 Extracellular (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TTACAGTTACAGGTATTCTAA 0.294 12 68 --- --- --- --- PASS TMTC1 83857 broad.mit.edu 37 12 29671421 29671421 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:29671421C>T uc001rjb.2 - 13 2158 c.1684G>A c.(1684-1686)GAA>AAA p.E562K TMTC1_uc001riz.2_Missense_Mutation_p.E319K|TMTC1_uc001rja.2_Missense_Mutation_p.E406K|TMTC1_uc001riy.2_Missense_Mutation_p.E18K NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 670 TPR 6. integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) TACCATTCTTCAGCCATGCTG 0.473 28 163 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 12 31278407 31278407 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:31278407C>A uc010sjy.1 - 27 3582 c.3582G>T c.(3580-3582)TTG>TTT p.L1194F RecName: Full=Ovostatin homolog 1; Flags: Precursor; AAATGACAGCCAACAGCACAT 0.468 7 23 --- --- --- --- PASS BICD1 636 broad.mit.edu 37 12 32459057 32459057 + Splice_Site SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:32459057G>A uc001rku.2 + 4 1086 c.1005_splice c.e4+1 p.Q335_splice BICD1_uc001rkv.2_Splice_Site_p.Q335_splice|BICD1_uc010skd.1_Splice_Site NM_001714 NP_001705 Q96G01 BICD1_HUMAN bicaudal D homolog 1 isoform 1 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton large_intestine(1)|central_nervous_system(1) 2 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) GCTTATGCAGGTAAGAACTTT 0.413 8 24 --- --- --- --- PASS ADAMTS20 80070 broad.mit.edu 37 12 43944794 43944794 + Nonsense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:43944794G>T uc010skx.1 - 2 371 c.371C>A c.(370-372)TCG>TAG p.S124* NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 124 proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GCGCAGGTCCGAGGGCCCTGC 0.667 6 18 --- --- --- --- PASS COL2A1 1280 broad.mit.edu 37 12 48372394 48372394 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:48372394C>T uc001rqu.2 - 42 3062 c.2881G>A c.(2881-2883)GAT>AAT p.D961N COL2A1_uc001rqt.2_5'Flank|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.D892N NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 961 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) GGACCGTCATCTCCAGGCTCT 0.657 7 17 --- --- --- --- PASS C12orf41 54934 broad.mit.edu 37 12 49065628 49065628 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:49065628C>A uc001rrx.2 - 5 738 c.663G>T c.(661-663)AAG>AAT p.K221N C12orf41_uc001rrw.2_Missense_Mutation_p.K26N|C12orf41_uc001rrz.2_Missense_Mutation_p.K404N|C12orf41_uc001rry.2_RNA|C12orf41_uc001rrv.2_5'UTR NM_017822 NP_060292 Q9H9L4 CL041_HUMAN hypothetical protein LOC54934 221 ovary(2) 2 ATCGGCGCTTCTTCTCCTTGA 0.423 52 148 --- --- --- --- PASS AQP2 359 broad.mit.edu 37 12 50349271 50349271 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:50349271G>C uc001rvn.2 + 4 786 c.696G>C c.(694-696)GAG>GAC p.E232D AQP2_uc009zll.1_5'Flank NM_000486 NP_000477 P41181 AQP2_HUMAN aquaporin 2 232 Cytoplasmic (Potential). cellular response to copper ion|cellular response to mercury ion|excretion apical plasma membrane|integral to membrane|transport vesicle membrane glycerol transmembrane transporter activity|water channel activity ovary(2) 2 GCCTGTCGGAGCGCCTGGCAG 0.687 3 17 --- --- --- --- PASS KRT79 338785 broad.mit.edu 37 12 53227729 53227729 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:53227729C>G uc001sbb.2 - 1 349 c.316G>C c.(316-318)GGG>CGG p.G106R NM_175834 NP_787028 Q5XKE5 K2C79_HUMAN keratin 6L 106 Head. keratin filament structural molecule activity ovary(2)|skin(2) 4 CAAGCAGGCCCAAACGTCTGC 0.647 11 36 --- --- --- --- PASS PAN2 9924 broad.mit.edu 37 12 56720625 56720625 + Silent SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:56720625G>T uc001skx.2 - 7 1411 c.1038C>A c.(1036-1038)GCC>GCA p.A346A PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Silent_p.A346A|PAN2_uc001sky.2_Silent_p.A346A NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 346 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity ovary(2)|skin(2)|large_intestine(1)|breast(1) 6 AATCCCCAAAGGCCAGAGCCT 0.562 4 87 --- --- --- --- PASS AVPR1A 552 broad.mit.edu 37 12 63544531 63544531 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:63544531C>A uc001sro.1 - 1 2060 c.86G>T c.(85-87)AGC>ATC p.S29I NM_000706 NP_000697 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 29 Extracellular (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity 0 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) GGCCTCCCGGCTTGTGTTGCC 0.701 6 34 --- --- --- --- PASS RAB21 23011 broad.mit.edu 37 12 72167786 72167786 + Silent SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:72167786C>T uc001swt.2 + 4 627 c.375C>T c.(373-375)ATC>ATT p.I125I NM_014999 NP_055814 Q9UL25 RAB21_HUMAN RAB21, member RAS oncogene family 125 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 GAAATGAAATCTGTTTATGTA 0.274 9 45 --- --- --- --- PASS ATP2B1 490 broad.mit.edu 37 12 89992912 89992912 + Silent SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:89992912C>G uc001tbh.2 - 19 3514 c.3333G>C c.(3331-3333)CTG>CTC p.L1111L ATP2B1_uc001tbg.2_Silent_p.L1111L|ATP2B1_uc009zsr.2_RNA|ATP2B1_uc001tbf.2_Silent_p.L745L NM_001682 NP_001673 P20020 AT2B1_HUMAN plasma membrane calcium ATPase 1 isoform 1b 1111 Cytoplasmic (Potential).|Calmodulin-binding subdomain A. ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 GGATTCTGTTCAGACCTCTAA 0.502 17 80 --- --- --- --- PASS TMPO 7112 broad.mit.edu 37 12 98941352 98941352 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:98941352G>T uc001tfj.2 + 9 1318 c.1081G>T c.(1081-1083)GCT>TCT p.A361S TMPO_uc001tfk.2_Missense_Mutation_p.A252S|TMPO_uc001tfl.2_RNA NM_001032283 NP_001027454 P42167 LAP2B_HUMAN thymopoietin isoform beta 361 Nucleoplasmic (Potential).|Binds lamins B.|NAKAP95-binding C. integral to membrane|nuclear inner membrane DNA binding|lamin binding ovary(2) 2 TCCCAACAGTGCTAGTTGCCG 0.398 7 55 --- --- --- --- PASS SCYL2 55681 broad.mit.edu 37 12 100729640 100729640 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:100729640G>C uc001thn.2 + 16 2031 c.1981G>C c.(1981-1983)GAG>CAG p.E661Q SCYL2_uc001thm.1_Missense_Mutation_p.E661Q NM_017988 NP_060458 Q6P3W7 SCYL2_HUMAN SCY1-like 2 protein 661 Potential. endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding lung(3)|ovary(2)|skin(1) 6 GACTGGCAGTGAGTCCGAAAA 0.338 21 94 --- --- --- --- PASS SLC17A8 246213 broad.mit.edu 37 12 100774544 100774544 + Missense_Mutation SNP A T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:100774544A>T uc010svi.1 + 2 480 c.167A>T c.(166-168)CAG>CTG p.Q56L SLC17A8_uc009ztx.2_Missense_Mutation_p.Q56L NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 56 Cytoplasmic (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 AGGCCGGTGCAGACGTCCAGG 0.507 24 106 --- --- --- --- PASS SLC17A8 246213 broad.mit.edu 37 12 100813829 100813829 + Missense_Mutation SNP T A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:100813829T>A uc010svi.1 + 12 1975 c.1662T>A c.(1660-1662)AAT>AAA p.N554K SLC17A8_uc009ztx.2_Missense_Mutation_p.N504K NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 554 Cytoplasmic (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 CCTCCCAGAATTGTGAAGTCC 0.453 4 23 --- --- --- --- PASS SELPLG 6404 broad.mit.edu 37 12 109017554 109017554 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:109017554G>A uc001tni.2 - 2 690 c.530C>T c.(529-531)GCA>GTA p.A177V SELPLG_uc001tnh.2_Missense_Mutation_p.A167V|SELPLG_uc010sxe.1_Missense_Mutation_p.A193V NM_003006 NP_002997 Q14242 SELPL_HUMAN selectin P ligand 177 Extracellular (Potential).|12 X 10 AA tandem repeats. blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding 0 TTCCGTGGCTGCTGGTGGAGT 0.627 16 56 --- --- --- --- PASS TBX3 6926 broad.mit.edu 37 12 115120793 115120793 + Silent SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:115120793C>T uc001tvt.1 - 1 1177 c.213G>A c.(211-213)GCG>GCA p.A71A TBX3_uc001tvu.1_Silent_p.A71A|TBX3_uc010syw.1_Silent_p.A71A NM_016569 NP_057653 O15119 TBX3_HUMAN T-box 3 protein isoform 2 71 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding ovary(2)|skin(1) 3 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) CGGTCTCGGCCGCCCCCACCA 0.697 9 16 --- --- --- --- PASS TBX3 6926 broad.mit.edu 37 12 115120862 115120862 + Silent SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:115120862G>T uc001tvt.1 - 1 1108 c.144C>A c.(142-144)CCC>CCA p.P48P TBX3_uc001tvu.1_Silent_p.P48P|TBX3_uc010syw.1_Silent_p.P48P NM_016569 NP_057653 O15119 TBX3_HUMAN T-box 3 protein isoform 2 48 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding ovary(2)|skin(1) 3 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) CCGCGCCGTTGGGAGGCAGCG 0.711 8 22 --- --- --- --- PASS ZNF664 144348 broad.mit.edu 37 12 124496735 124496735 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr12:124496735G>T uc001ufz.2 + 6 1874 c.44G>T c.(43-45)AGA>ATA p.R15I ZNF664_uc001uga.2_Missense_Mutation_p.R15I|ZNF664_uc001ugb.2_Missense_Mutation_p.R15I NM_152437 NP_689650 Q8N3J9 ZN664_HUMAN zinc finger protein 664 15 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249) TTCTCTGAGAGAGCAGATCTT 0.353 11 34 --- --- --- --- PASS GJB2 2706 broad.mit.edu 37 13 20763693 20763693 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr13:20763693G>T uc001umy.2 - 2 243 c.28C>A c.(28-30)CTG>ATG p.L10M NM_004004 NP_003995 P29033 CXB2_HUMAN gap junction protein beta 2 10 Cytoplasmic (Potential). cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport connexon complex|ER-Golgi intermediate compartment|integral to membrane 0 all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738) ACACCCCCCAGGATCGTCTGC 0.507 Keratitis_Ichthyosis_and_Deafness_syndrome OREG0022282 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 60 --- --- --- --- PASS SGCG 6445 broad.mit.edu 37 13 23898647 23898647 + Silent SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr13:23898647C>T uc001uom.2 + 8 998 c.843C>T c.(841-843)ACC>ACT p.T281T SGCG_uc009zzv.2_Silent_p.T281T|SGCG_uc009zzw.2_Silent_p.T281T NM_000231 NP_000222 Q13326 SGCG_HUMAN gamma sarcoglycan 281 Extracellular (Potential). cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma 0 all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188) all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205) GTGTGAGCACCACGTGCCAGG 0.627 4 16 --- --- --- --- PASS ATP12A 479 broad.mit.edu 37 13 25280474 25280474 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr13:25280474C>T uc001upp.2 + 15 2229 c.2042C>T c.(2041-2043)ACT>ATT p.T681I ATP12A_uc010aaa.2_Missense_Mutation_p.T687I NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 681 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) GCTGTGGTGACTGGCATGGAG 0.557 7 23 --- --- --- --- PASS MTUS2 23281 broad.mit.edu 37 13 29599365 29599365 + Missense_Mutation SNP T C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr13:29599365T>C uc001usl.3 + 1 618 c.560T>C c.(559-561)TTG>TCG p.L187S NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 177 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 AGGCATTCTTTGGAAAGAGCA 0.537 6 34 --- --- --- --- PASS RXFP2 122042 broad.mit.edu 37 13 32363281 32363281 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr13:32363281C>A uc001utt.2 + 14 1167 c.1096C>A c.(1096-1098)CCA>ACA p.P366T RXFP2_uc010aba.2_Missense_Mutation_p.P325T NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 366 Extracellular (Potential).|LRR 10. integral to membrane|plasma membrane 0 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) GATAGAGATTCCAAATATAAA 0.338 13 48 --- --- --- --- PASS FREM2 341640 broad.mit.edu 37 13 39264179 39264179 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr13:39264179G>T uc001uwv.2 + 1 3007 c.2698G>T c.(2698-2700)GTT>TTT p.V900F NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 900 CSPG 5.|Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) ACAGGGCCGAGTTTCCTATGC 0.512 7 8 --- --- --- --- PASS UGGT2 55757 broad.mit.edu 37 13 96642288 96642288 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr13:96642288G>C uc001vmt.2 - 8 1040 c.870C>G c.(868-870)TTC>TTG p.F290L UGGT2_uc010afo.2_Intron|UGGT2_uc001vmv.2_Missense_Mutation_p.F290L|UGGT2_uc010afp.2_Missense_Mutation_p.F290L NM_020121 NP_064506 Q9NYU1 UGGG2_HUMAN UDP-glucose ceramide glucosyltransferase-like 2 290 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 GGTATTTTTGGAATGCTGTCA 0.318 29 116 --- --- --- --- PASS HS6ST3 266722 broad.mit.edu 37 13 97485053 97485053 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr13:97485053G>C uc001vmw.2 + 2 1041 c.1017G>C c.(1015-1017)CAG>CAC p.Q339H NM_153456 NP_703157 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 339 Lumenal (Potential). integral to membrane sulfotransferase activity ovary(1)|skin(1) 2 all_neural(89;0.0878)|Medulloblastoma(90;0.163) TCCTGTTGCAGAGTGCAAAGA 0.478 15 56 --- --- --- --- PASS POTEG 404785 broad.mit.edu 37 14 19559057 19559057 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr14:19559057C>T uc001vuz.1 + 3 755 c.703C>T c.(703-705)CCA>TCA p.P235S POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 235 ovary(1) 1 TCCGAATATTCCAGATGAGTA 0.398 10 176 --- --- --- --- PASS RNASE10 338879 broad.mit.edu 37 14 20978688 20978688 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr14:20978688G>T uc010tlj.1 + 1 58 c.58G>T c.(58-60)GGG>TGG p.G20W RNASE10_uc001vxp.2_Missense_Mutation_p.G48W NM_001012975 NP_001012993 Q5GAN6 RNS10_HUMAN ribonuclease, RNase A family, 10 (non-active) 20 extracellular region nucleic acid binding|pancreatic ribonuclease activity 0 all_cancers(95;0.00123) Epithelial(56;1.81e-07)|all cancers(55;1.86e-06) GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191) gctgggcctggggatgggcct 0.353 22 128 --- --- --- --- PASS RNASE8 122665 broad.mit.edu 37 14 21526420 21526420 + Silent SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr14:21526420G>A uc010tlm.1 + 1 369 c.369G>A c.(367-369)AAG>AAA p.K123K NDRG2_uc010tll.1_Intron NM_138331 NP_612204 Q8TDE3 RNAS8_HUMAN ribonuclease, RNase A family, 8 precursor 123 extracellular region nucleic acid binding|pancreatic ribonuclease activity 0 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08) GBM - Glioblastoma multiforme(265;0.0188) ACAAAGAGAAGCACCTGAACA 0.532 76 78 --- --- --- --- PASS SLC22A17 51310 broad.mit.edu 37 14 23816673 23816673 + Silent SNP G A A rs147658314 by1000genomes TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr14:23816673G>A uc001wjl.2 - 7 1268 c.1212C>T c.(1210-1212)AAC>AAT p.N404N SLC22A17_uc010akk.2_Intron|SLC22A17_uc001wjn.2_Intron|SLC22A17_uc001wjm.2_Intron NM_020372 NP_065105 Q8WUG5 S22AH_HUMAN solute carrier family 22, member 17 isoform a 404 siderophore transport integral to organelle membrane|integral to plasma membrane|vacuolar membrane transmembrane receptor activity|transmembrane transporter activity 0 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00643) AAGCACCTCTGTTGGGGTTCC 0.607 16 16 --- --- --- --- PASS MIPOL1 145282 broad.mit.edu 37 14 37739624 37739624 + Splice_Site SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr14:37739624G>T uc001wuc.2 + 7 891 c.388_splice c.e7-1 p.L130_splice MIPOL1_uc010amr.2_Splice_Site|MIPOL1_uc001wub.3_Splice_Site_p.L99_splice|MIPOL1_uc001wud.2_Splice_Site_p.L130_splice|MIPOL1_uc010ams.2_Splice_Site_p.L130_splice|MIPOL1_uc001wue.2_Splice_Site_p.L99_splice|MIPOL1_uc010amt.2_Intron NM_138731 NP_620059 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 ovary(1)|central_nervous_system(1) 2 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) ATGTGCTTTAGCTTCAGCAGA 0.274 9 48 --- --- --- --- PASS LRFN5 145581 broad.mit.edu 37 14 42360510 42360510 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr14:42360510G>T uc001wvm.2 + 4 2641 c.1443G>T c.(1441-1443)ATG>ATT p.M481I LRFN5_uc010ana.2_Intron NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 481 Extracellular (Potential).|Fibronectin type-III. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CTGGAACTATGTATGACTTGT 0.408 HNSCC(30;0.082) 36 102 --- --- --- --- PASS SOCS4 122809 broad.mit.edu 37 14 55510557 55510557 + Silent SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr14:55510557G>T uc001xbo.2 + 3 1363 c.798G>T c.(796-798)ACG>ACT p.T266T SOCS4_uc001xbp.2_Silent_p.T266T NM_199421 NP_955453 Q8WXH5 SOCS4_HUMAN suppressor of cytokine signaling 4 266 intracellular signal transduction|negative regulation of signal transduction|regulation of growth ovary(1)|kidney(1) 2 AATACCACACGCAGATTGATT 0.418 9 49 --- --- --- --- PASS NAA30 122830 broad.mit.edu 37 14 57857946 57857946 + Nonsense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr14:57857946G>T uc001xcx.3 + 2 425 c.271G>T c.(271-273)GAA>TAA p.E91* NAA30_uc010trk.1_Intron|NAA30_uc010aow.2_Intron NM_001011713 NP_001011713 Q147X3 NAA30_HUMAN N-acetyltransferase 12 91 cytoplasm peptide alpha-N-acetyltransferase activity skin(1) 1 GATTAGCCCCGAACTGCGGCA 0.711 4 27 --- --- --- --- PASS SYT16 83851 broad.mit.edu 37 14 62462942 62462942 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr14:62462942G>C uc001xfu.1 + 1 402 c.205G>C c.(205-207)GAT>CAT p.D69H SYT16_uc010tsd.1_Missense_Mutation_p.D69H NM_031914 NP_114120 Q17RD7 SYT16_HUMAN synaptotagmin XIV-like 69 central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GTACTTTGAAGATGAAGAACA 0.368 28 95 --- --- --- --- PASS ZFYVE1 53349 broad.mit.edu 37 14 73464678 73464678 + Missense_Mutation SNP A G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr14:73464678A>G uc001xnm.2 - 3 1469 c.829T>C c.(829-831)TTC>CTC p.F277L ZFYVE1_uc010arj.2_Missense_Mutation_p.F277L NM_021260 NP_067083 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 isoform 1 277 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding skin(1) 1 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) AGGAATTTGAAGAGGTCGTTA 0.532 4 30 --- --- --- --- PASS C14orf179 112752 broad.mit.edu 37 14 76455252 76455252 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr14:76455252C>G uc010asm.1 + 2 113 c.79C>G c.(79-81)CAA>GAA p.Q27E C14orf179_uc001xsf.2_RNA|C14orf179_uc010asl.1_Missense_Mutation_p.Q27E|C14orf179_uc001xsg.2_Missense_Mutation_p.Q27E|C14orf179_uc010tve.1_RNA|C14orf179_uc001xse.2_Missense_Mutation_p.Q27E NM_001102564 NP_001096034 Q96FT9 IFT43_HUMAN hypothetical protein LOC112752 isoform 2 27 cilium morphogenesis|intraflagellar retrograde transport 0 BRCA - Breast invasive adenocarcinoma(234;0.0199) TCGCCGAGCTCAACAGGAGTC 0.468 6 38 --- --- --- --- PASS RIN3 79890 broad.mit.edu 37 14 93125655 93125655 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr14:93125655G>A uc001yap.2 + 7 2328 c.2176G>A c.(2176-2178)GAC>AAC p.D726N RIN3_uc010auk.2_Missense_Mutation_p.D388N|RIN3_uc001yaq.2_Missense_Mutation_p.D651N|RIN3_uc001yar.1_Missense_Mutation_p.D388N|RIN3_uc001yas.1_Missense_Mutation_p.D388N NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 726 Interaction with RAB5B.|VPS9. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding lung(2)|ovary(1) 3 all_cancers(154;0.0701) CACCACCACTGACCTAGGTGT 0.552 17 85 --- --- --- --- PASS KIAA1409 57578 broad.mit.edu 37 14 94044262 94044262 + Silent SNP T C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr14:94044262T>C uc001ybv.1 + 15 1838 c.1755T>C c.(1753-1755)AGT>AGC p.S585S KIAA1409_uc001ybs.1_Silent_p.S585S NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 762 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) CTTTCCAGAGTCCGTTTCGGA 0.453 47 175 --- --- --- --- PASS KIAA1409 57578 broad.mit.edu 37 14 94139791 94139791 + Missense_Mutation SNP T G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr14:94139791T>G uc001ybv.1 + 40 6466 c.6383T>G c.(6382-6384)CTG>CGG p.L2128R KIAA1409_uc001ybs.1_Missense_Mutation_p.L2106R NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 2283 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) AACCTTCTTCTGCTTGTTCAG 0.383 15 55 --- --- --- --- PASS SERPINA10 51156 broad.mit.edu 37 14 94752574 94752574 + Silent SNP C T T rs140430900 TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr14:94752574C>T uc001yct.2 - 4 1480 c.1014G>A c.(1012-1014)CCG>CCA p.P338P SERPINA10_uc001ycu.3_Silent_p.P338P NM_016186 NP_057270 Q9UK55 ZPI_HUMAN serine (or cysteine) proteinase inhibitor, clade 338 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) GCTTGAACTTCGGAAAGAAAA 0.418 10 47 --- --- --- --- PASS C14orf49 161176 broad.mit.edu 37 14 95934295 95934295 + Nonsense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr14:95934295G>A uc001yei.3 - 2 169 c.154C>T c.(154-156)CAG>TAG p.Q52* C14orf49_uc010avi.2_Nonsense_Mutation_p.Q52*|C14orf49_uc001yej.1_Nonsense_Mutation_p.Q52* NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 52 Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) GGCTCCAGCTGGCATATTTTC 0.527 6 18 --- --- --- --- PASS BDKRB2 624 broad.mit.edu 37 14 96706782 96706782 + Silent SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr14:96706782C>T uc010avm.1 + 3 313 c.117C>T c.(115-117)AAC>AAT p.N39N BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Silent_p.N12N|BDKRB2_uc001yfg.2_Silent_p.N39N NM_000623 NP_000614 P30411 BKRB2_HUMAN bradykinin receptor B2 39 Extracellular (Potential). arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding ovary(3)|breast(1)|kidney(1) 5 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) CCACTCTTAACGGGACCTTTG 0.577 51 190 --- --- --- --- PASS EIF5 1983 broad.mit.edu 37 14 103802201 103802201 + Missense_Mutation SNP T C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr14:103802201T>C uc001ymq.2 + 3 526 c.4T>C c.(4-6)TCT>CCT p.S2P EIF5_uc001ymr.2_Missense_Mutation_p.S2P|EIF5_uc001yms.2_Missense_Mutation_p.S2P|EIF5_uc001ymt.2_Missense_Mutation_p.S2P|EIF5_uc001ymu.2_Missense_Mutation_p.S2P|SNORA28_uc001ymv.1_5'Flank NM_001969 NP_001960 P55010 IF5_HUMAN eukaryotic translation initiation factor 5 2 regulation of translational initiation|RNA metabolic process cytosol GTP binding|GTPase activity|translation initiation factor activity pancreas(1)|breast(1)|skin(1) 3 Melanoma(154;0.155) Epithelial(46;0.182) AGCCAAAATGTCTGTCAATGT 0.408 27 69 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105410942 105410942 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr14:105410942C>G uc010axc.1 - 7 10966 c.10846G>C c.(10846-10848)GAT>CAT p.D3616H AHNAK2_uc001ypx.2_Missense_Mutation_p.D3516H NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3616 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) CGCCCAGCATCCAGCTTGGCC 0.592 32 137 --- --- --- --- PASS C15orf52 388115 broad.mit.edu 37 15 40628970 40628970 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr15:40628970C>G uc001zlh.3 - 8 935 c.919G>C c.(919-921)GAT>CAT p.D307H C15orf52_uc001zli.1_3'UTR|C15orf52_uc010ucn.1_Missense_Mutation_p.D97H NM_207380 NP_997263 Q6ZUT6 CO052_HUMAN hypothetical protein LOC388115 307 large_intestine(1) 1 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) CCTTTTCCATCAGGGAGCAAT 0.577 23 75 --- --- --- --- PASS C15orf33 196951 broad.mit.edu 37 15 49882182 49882182 + Missense_Mutation SNP T A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr15:49882182T>A uc001zxl.2 - 4 422 c.128A>T c.(127-129)CAT>CTT p.H43L C15orf33_uc001zxm.2_Missense_Mutation_p.H43L NM_152647 NP_689860 Q96M60 CO033_HUMAN hypothetical protein LOC196951 43 ovary(1) 1 all_lung(180;0.00187) all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124) ATCTCTAAAATGGATTTCCCT 0.303 8 49 --- --- --- --- PASS WDR72 256764 broad.mit.edu 37 15 54007544 54007544 + Silent SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr15:54007544C>A uc002acj.2 - 5 402 c.360G>T c.(358-360)CGG>CGT p.R120R WDR72_uc010bfi.1_Silent_p.R120R NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 120 lung(1)|skin(1) 2 all cancers(107;0.0511) CTCCTGTCATCCGGAATGAGC 0.343 7 33 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54707198 54707198 + Silent SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr15:54707198C>T uc002ack.2 + 17 4866 c.4866C>T c.(4864-4866)AAC>AAT p.N1622N UNC13C_uc002acl.2_Silent_p.N452N NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1622 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AAGAGCTGAACATGGGAAAAA 0.303 5 21 --- --- --- --- PASS SCAMP2 10066 broad.mit.edu 37 15 75141031 75141031 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr15:75141031G>C uc002azb.1 - 7 718 c.644C>G c.(643-645)TCT>TGT p.S215C SCAMP2_uc002aza.1_Missense_Mutation_p.S65C|SCAMP2_uc010bkg.1_Intron NM_005697 NP_005688 O15127 SCAM2_HUMAN secretory carrier membrane protein 2 215 Cytoplasmic (Potential).|Interaction with SLC9A7. post-Golgi vesicle-mediated transport|protein transport integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane protein binding ovary(1) 1 GAAGCTGAAAGAGTTGTCGGA 0.488 5 17 --- --- --- --- PASS FAH 2184 broad.mit.edu 37 15 80469898 80469898 + Silent SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr15:80469898G>T uc002bfj.2 + 12 1015 c.933G>T c.(931-933)GCG>GCT p.A311A FAH_uc002bfk.1_Silent_p.A311A|FAH_uc002bfm.1_Silent_p.A311A|FAH_uc002bfn.1_Silent_p.A241A|FAH_uc010bln.1_RNA|FAH_uc010blo.1_RNA NM_000137 NP_000128 P16930 FAAA_HUMAN fumarylacetoacetase 311 L-phenylalanine catabolic process|tyrosine catabolic process cytosol fumarylacetoacetase activity|metal ion binding 0 TGAGCCAGGCGGCTACCATAT 0.403 Tyrosinemia_type_1 17 57 --- --- --- --- PASS CHD2 1106 broad.mit.edu 37 15 93482893 93482893 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr15:93482893G>A uc002bsp.2 + 7 1212 c.637G>A c.(637-639)GAT>AAT p.D213N CHD2_uc002bsm.1_Missense_Mutation_p.D213N|CHD2_uc002bsn.2_Missense_Mutation_p.D213N|CHD2_uc002bso.1_Missense_Mutation_p.D213N|CHD2_uc010urb.1_Missense_Mutation_p.D226N NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 213 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) TGAGGATGATGATGATGACGA 0.443 23 63 --- --- --- --- PASS SPATA8 145946 broad.mit.edu 37 15 97327381 97327381 + Splice_Site SNP A C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr15:97327381A>C uc002bue.2 + 2 300 c.90_splice c.e2-2 p.R30_splice uc010urp.1_5'Flank|uc002bud.1_5'Flank NM_173499 NP_775770 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 ovary(1)|skin(1) 2 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) TCTCTTCTGCAGAACCTCGTC 0.577 10 28 --- --- --- --- PASS ABCC6 368 broad.mit.edu 37 16 16278887 16278887 + Silent SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr16:16278887G>A uc002den.3 - 15 1909 c.1872C>T c.(1870-1872)GCC>GCT p.A624A ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Silent_p.A636A NM_001171 NP_001162 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C, member 6 624 Cytoplasmic (By similarity). response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.A624V(1) skin(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) AATCCTTCCCGGCAGCTGCAG 0.652 6 25 --- --- --- --- PASS ACSM2B 348158 broad.mit.edu 37 16 20554480 20554480 + Silent SNP T G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr16:20554480T>G uc002dhj.3 - 12 1596 c.1386A>C c.(1384-1386)GCA>GCC p.A462A ACSM2B_uc002dhk.3_Silent_p.A462A|ACSM2B_uc010bwf.1_Silent_p.A462A NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 462 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 TGATATCATCTGCCCGTCCCA 0.507 40 252 --- --- --- --- PASS NCRNA00169 400508 broad.mit.edu 37 16 21328221 21328221 + RNA SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr16:21328221C>T uc010bwr.1 + 3 c.613C>T NR_026675 Homo sapiens cDNA FLJ41766 fis, clone IMR322006222. central_nervous_system(1) 1 AAATGGTCCTCACATTTCTGT 0.403 32 103 --- --- --- --- PASS PALB2 79728 broad.mit.edu 37 16 23641656 23641656 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr16:23641656G>C uc002dlx.1 - 5 2019 c.1819C>G c.(1819-1821)CTC>GTC p.L607V NM_024675 NP_078951 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 607 double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1) 11 GBM - Glioblastoma multiforme(48;0.0167) GTGATACTGAGAAAAGACAGT 0.408 F|N|Mis Wilms tumor|medulloblastoma|AML ,breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of 9 68 --- --- --- --- PASS MYST1 84148 broad.mit.edu 37 16 31142524 31142524 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr16:31142524G>C uc002eay.2 + 11 1339 c.1321G>C c.(1321-1323)GTC>CTC p.V441L MYST1_uc002eax.2_3'UTR|MYST1_uc002eaz.2_Missense_Mutation_p.V283L|MYST1_uc002eba.2_3'UTR|MYST1_uc002ebb.2_RNA NM_032188 NP_115564 Q9H7Z6 MYST1_HUMAN MYST histone acetyltransferase 1 isoform 1 441 histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex|MSL complex histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding ovary(1) 1 AGTGGACTCCGTCTGCCTCAA 0.667 5 14 --- --- --- --- PASS ARMC5 79798 broad.mit.edu 37 16 31473871 31473871 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr16:31473871C>T uc002ecc.2 + 3 1532 c.1003C>T c.(1003-1005)CGG>TGG p.R335W ARMC5_uc010vfn.1_Missense_Mutation_p.R430W|ARMC5_uc010vfo.1_Missense_Mutation_p.R367W|ARMC5_uc002eca.3_Missense_Mutation_p.R335W|ARMC5_uc010vfp.1_Intron|ARMC5_uc002ecb.2_Missense_Mutation_p.R335W NM_001105247 NP_001098717 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 isoform a 335 ARM 5. binding p.R335C(1) pancreas(1) 1 CCGGCAGCGCCGGGATCCTAA 0.652 11 26 --- --- --- --- PASS NOD2 64127 broad.mit.edu 37 16 50741806 50741806 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr16:50741806G>C uc002egm.1 + 3 686 c.581G>C c.(580-582)GGA>GCA p.G194A NOD2_uc010cbk.1_Missense_Mutation_p.G167A|NOD2_uc002egl.1_Intron|NOD2_uc010cbl.1_5'Flank|NOD2_uc010cbm.1_5'Flank|NOD2_uc010cbn.1_5'Flank|NOD2_uc010cbo.1_5'Flank NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 194 CARD 2. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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 cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) AAAGCGAATGGATTGGCTGCC 0.483 25 70 --- --- --- --- PASS NUP93 9688 broad.mit.edu 37 16 56792532 56792532 + Nonsense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr16:56792532G>T uc002eka.2 + 3 383 c.262G>T c.(262-264)GAG>TAG p.E88* NM_014669 NP_055484 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 88 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(1)|lung(1) 2 CACCACCTTTGAGCCTCTTGA 0.537 12 42 --- --- --- --- PASS CES2 8824 broad.mit.edu 37 16 66977219 66977219 + Nonsense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr16:66977219G>T uc002eqr.2 + 11 2630 c.1630G>T c.(1630-1632)GAG>TAG p.E544* CES2_uc002eqq.2_Nonsense_Mutation_p.E528*|CES2_uc002eqs.2_Nonsense_Mutation_p.E387* NM_003869 NP_003860 O00748 EST2_HUMAN carboxylesterase 2 isoform 1 480 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) CACTGAGGAAGAGGAGCAGCT 0.542 14 32 --- --- --- --- PASS RLTPR 146206 broad.mit.edu 37 16 67683724 67683724 + Silent SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr16:67683724C>T uc002etn.2 + 21 2055 c.1935C>T c.(1933-1935)GAC>GAT p.D645D RLTPR_uc010cel.1_Silent_p.D638D|RLTPR_uc010vjr.1_Silent_p.D609D NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin 645 Tropomodulin-like.|LRR 15. breast(1) 1 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) TGGTCTGGGACCGGAACCACA 0.662 9 39 --- --- --- --- PASS PRMT7 54496 broad.mit.edu 37 16 68390996 68390996 + Missense_Mutation SNP T A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr16:68390996T>A uc002evy.1 + 19 2224 c.1948T>A c.(1948-1950)TAC>AAC p.Y650N PRMT7_uc010vlg.1_Missense_Mutation_p.Y600N|PRMT7_uc002evz.1_Missense_Mutation_p.Y422N NM_019023 NP_061896 Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 650 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) GCAGGCCGTCTACTTCTTCAG 0.612 7 45 --- --- --- --- PASS GLG1 2734 broad.mit.edu 37 16 74497378 74497378 + Splice_Site SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr16:74497378C>G uc002fcy.3 - 20 2718 c.2668_splice c.e20-1 p.R890_splice GLG1_uc002fcx.2_Splice_Site_p.R890_splice|GLG1_uc002fcw.3_Splice_Site_p.R879_splice|GLG1_uc002fcz.3_Splice_Site_p.R307_splice NM_001145667 NP_001139139 Q92896 GSLG1_HUMAN golgi apparatus protein 1 isoform 3 Golgi membrane|integral to membrane receptor binding ovary(1)|breast(1) 2 GACAGAACCTCTGCAAAGAAA 0.323 24 77 --- --- --- --- PASS ZFP3 124961 broad.mit.edu 37 17 4996231 4996231 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr17:4996231G>C uc002gaq.2 + 2 1557 c.1432G>C c.(1432-1434)GAG>CAG p.E478Q NM_153018 NP_694563 Q96NJ6 ZFP3_HUMAN zinc finger protein-3 478 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAAGCCTTATGAGTGCCAAGA 0.413 15 32 --- --- --- --- PASS WSCD1 23302 broad.mit.edu 37 17 5983988 5983988 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr17:5983988C>A uc010cli.2 + 2 389 c.10C>A c.(10-12)CCT>ACT p.P4T WSCD1_uc002gcn.2_Missense_Mutation_p.P4T|WSCD1_uc002gco.2_Missense_Mutation_p.P4T|WSCD1_uc010clj.2_5'UTR NM_015253 NP_056068 Q658N2 WSCD1_HUMAN WSC domain containing 1 4 integral to membrane sulfotransferase activity 0 CATGGCCAAACCTTTCTTCCG 0.657 9 26 --- --- --- --- PASS KIAA0753 9851 broad.mit.edu 37 17 6531662 6531662 + Nonsense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr17:6531662C>A uc002gde.3 - 3 852 c.493G>T c.(493-495)GAA>TAA p.E165* KIAA0753_uc010clo.2_5'UTR|KIAA0753_uc010vte.1_5'UTR NM_014804 NP_055619 Q2KHM9 K0753_HUMAN hypothetical protein LOC9851 165 centrosome 0 COAD - Colon adenocarcinoma(228;0.157) CTGGAGATTTCTACTTTGGAT 0.488 11 31 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578265 7578265 + Missense_Mutation SNP A C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr17:7578265A>C uc002gim.2 - 6 778 c.584T>G c.(583-585)ATC>AGC p.I195S TP53_uc002gig.1_Missense_Mutation_p.I195S|TP53_uc002gih.2_Missense_Mutation_p.I195S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.I63S|TP53_uc010cng.1_Missense_Mutation_p.I63S|TP53_uc002gii.1_Missense_Mutation_p.I63S|TP53_uc010cnh.1_Missense_Mutation_p.I195S|TP53_uc010cni.1_Missense_Mutation_p.I195S|TP53_uc002gij.2_Missense_Mutation_p.I195S|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102S|TP53_uc002gio.2_Missense_Mutation_p.I63S|TP53_uc010vug.1_Missense_Mutation_p.I156S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 195 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|I -> N (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.I195T(61)|p.I195F(16)|p.I195N(12)|p.0?(7)|p.I195S(4)|p.A189_V197delAPPQHLIRV(4)|p.I195fs*14(3)|p.I195fs*52(3)|p.K164_P219del(1)|p.I195L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.I195fs*12(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) TTCCACTCGGATAAGATGCTG 0.552 111 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) 8 25 --- --- --- --- PASS MYH4 4622 broad.mit.edu 37 17 10366280 10366280 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr17:10366280G>A uc002gmn.2 - 11 1021 c.910C>T c.(910-912)CTT>TTT p.L304F uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 304 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 GTGATCAGAAGCATTTCTGAA 0.433 11 18 --- --- --- --- PASS SPAG5 10615 broad.mit.edu 37 17 26906445 26906445 + Silent SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr17:26906445C>T uc002hbq.2 - 18 3035 c.2943G>A c.(2941-2943)CAG>CAA p.Q981Q ALDOC_uc002hbp.2_5'Flank|ALDOC_uc010cro.2_5'Flank NM_006461 NP_006452 Q96R06 SPAG5_HUMAN sperm associated antigen 5 981 Potential. cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding central_nervous_system(1) 1 Lung NSC(42;0.00431) AACAAAGACTCTGAAGCTCAG 0.493 38 89 --- --- --- --- PASS MYO18A 399687 broad.mit.edu 37 17 27449231 27449231 + Missense_Mutation SNP T G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr17:27449231T>G uc002hdt.1 - 3 1198 c.1040A>C c.(1039-1041)AAT>ACT p.N347T MYO18A_uc010wbc.1_5'Flank|MYO18A_uc002hds.2_5'UTR|MYO18A_uc010csa.1_Missense_Mutation_p.N347T|MYO18A_uc002hdu.1_Missense_Mutation_p.N347T|MYO18A_uc010wbd.1_Missense_Mutation_p.N16T NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 347 anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) CTCCGTCTCATTCCAGGCCTC 0.552 3 4 --- --- --- --- PASS CCDC55 84081 broad.mit.edu 37 17 28499605 28499605 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr17:28499605G>T uc002heu.2 + 3 188 c.160G>T c.(160-162)GCC>TCC p.A54S CCDC55_uc002hev.2_5'UTR|CCDC55_uc010wbl.1_5'UTR|CCDC55_uc010wbm.1_5'UTR|CCDC55_uc002hex.2_5'UTR NM_032141 NP_115517 Q9H0G5 NSRP1_HUMAN coiled-coil domain containing 55 isoform 1 54 developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome nuclear speck|ribonucleoprotein complex mRNA binding|protein binding 0 TAAGAAGCAGGCCATGAAACA 0.383 6 23 --- --- --- --- PASS GAS2L2 246176 broad.mit.edu 37 17 34072636 34072636 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr17:34072636G>T uc002hjv.1 - 6 1908 c.1880C>A c.(1879-1881)TCT>TAT p.S627Y NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 627 cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GATGACCCCAGACCTTGTGCC 0.577 39 117 --- --- --- --- PASS KRT13 3860 broad.mit.edu 37 17 39658978 39658978 + Silent SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr17:39658978G>T uc002hwu.1 - 5 1047 c.984C>A c.(982-984)CTC>CTA p.L328L KRT13_uc002hwv.1_Silent_p.L328L|KRT13_uc002hww.2_Silent_p.L221L|KRT13_uc010wfr.1_Silent_p.L221L|KRT13_uc010cxo.2_Silent_p.L328L|KRT13_uc002hwx.1_Silent_p.L316L NM_153490 NP_705694 P13646 K1C13_HUMAN keratin 13 isoform a 328 Rod.|Coil 2. epidermis development intermediate filament structural molecule activity ovary(2)|skin(2)|pancreas(1) 5 Breast(137;0.000286) CCAGGCCTTGGAGCGTGCGCC 0.587 35 98 --- --- --- --- PASS KRT17 3872 broad.mit.edu 37 17 39777062 39777062 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr17:39777062C>A uc002hxh.2 - 6 1151 c.1030G>T c.(1030-1032)GGG>TGG p.G344W JUP_uc010wfs.1_Intron NM_000422 NP_000413 Q04695 K1C17_HUMAN keratin 17 344 Peptide epitope S4; induces T-cell and keratinocyte proliferation and IFN-gamma production.|Coil 2.|Rod. epidermis development cytoplasm|intermediate filament protein binding|structural constituent of cytoskeleton ovary(1)|skin(1) 2 Breast(137;0.000307) CCAATCAGCCCCTGGATCTGG 0.607 Steatocystoma_Multiplex 13 54 --- --- --- --- PASS BRCA1 672 broad.mit.edu 37 17 41246589 41246589 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr17:41246589C>G uc002icq.2 - 10 1191 c.959G>C c.(958-960)AGA>ACA p.R320T BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.R249T|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.R273T|BRCA1_uc002ict.2_Missense_Mutation_p.R320T|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.R320T|BRCA1_uc002ide.1_Missense_Mutation_p.R151T|BRCA1_uc010cyy.1_Missense_Mutation_p.R320T|BRCA1_uc010whs.1_Missense_Mutation_p.R320T|BRCA1_uc010cyz.2_Missense_Mutation_p.R273T|BRCA1_uc010cza.2_Missense_Mutation_p.R294T|BRCA1_uc010wht.1_Missense_Mutation_p.R24T NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 320 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) TCCAGCCCATCTGTTATGTTG 0.413 D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) 28 114 --- --- --- --- PASS TMEM106A 113277 broad.mit.edu 37 17 41365217 41365217 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr17:41365217G>A uc002idn.1 + 3 394 c.157G>A c.(157-159)GAT>AAT p.D53N TMEM106A_uc010why.1_Missense_Mutation_p.D5N|TMEM106A_uc010cze.1_Missense_Mutation_p.D53N|TMEM106A_uc010whz.1_Missense_Mutation_p.D53N NM_145041 NP_659478 Q96A25 T106A_HUMAN transmembrane protein 106A 53 integral to membrane 0 Breast(137;0.0164) BRCA - Breast invasive adenocarcinoma(366;0.0917) AGGAACTGCTGATGCCAGCTT 0.552 23 61 --- --- --- --- PASS TANC2 26115 broad.mit.edu 37 17 61432617 61432617 + Silent SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr17:61432617G>A uc002jal.3 + 12 2249 c.2226G>A c.(2224-2226)CAG>CAA p.Q742Q TANC2_uc010wpe.1_Silent_p.Q652Q|TANC2_uc002jam.1_Silent_p.Q109Q NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and 742 binding ovary(2) 2 AGGATTTTCAGCAGAGAATGG 0.478 8 29 --- --- --- --- PASS ERN1 2081 broad.mit.edu 37 17 62175585 62175585 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr17:62175585C>T uc002jdz.2 - 2 184 c.71G>A c.(70-72)AGC>AAC p.S24N NM_001433 NP_001424 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signalling 1 24 Lumenal (Potential). activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1) 9 CGTCACTGTGCTGGTACTTCC 0.448 13 31 --- --- --- --- PASS TMC6 11322 broad.mit.edu 37 17 76116838 76116838 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr17:76116838C>A uc002juj.1 - 12 1737 c.1611G>T c.(1609-1611)CAG>CAT p.Q537H TMC6_uc002jui.1_Intron|TMC6_uc010dhf.1_Missense_Mutation_p.Q370H|TMC6_uc002juk.2_Missense_Mutation_p.Q537H|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Missense_Mutation_p.Q537H|TMC6_uc002jum.3_Missense_Mutation_p.Q328H|TMC6_uc002jun.3_Missense_Mutation_p.Q537H|TMC6_uc002juo.2_3'UTR NM_007267 NP_009198 Q7Z403 TMC6_HUMAN transmembrane channel-like 6 537 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) AGCACTGGCCCTGCAGGACGC 0.622 Epidermodysplasia_Verruciformis_Familial_Clustering_of 23 65 --- --- --- --- PASS P4HB 5034 broad.mit.edu 37 17 79803439 79803439 + Missense_Mutation SNP T C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr17:79803439T>C uc002kbn.1 - 9 1554 c.1357A>G c.(1357-1359)ACG>GCG p.T453A P4HB_uc002kbl.1_Missense_Mutation_p.T130A|P4HB_uc002kbm.1_Missense_Mutation_p.T130A NM_000918 NP_000909 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta subunit precursor 453 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) AGGCGCACCGTCCTGTCGGCA 0.642 5 12 --- --- --- --- PASS NOTUM 147111 broad.mit.edu 37 17 79910847 79910847 + Missense_Mutation SNP T A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr17:79910847T>A uc010wvg.1 - 11 1753 c.1481A>T c.(1480-1482)AAC>ATC p.N494I NM_178493 NP_848588 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog precursor 494 extracellular region hydrolase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) CTAGCTTCCGTTGCTCAGCAT 0.667 24 67 --- --- --- --- PASS FN3K 64122 broad.mit.edu 37 17 80708298 80708298 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr17:80708298G>C uc010wvs.1 + 6 658 c.597G>C c.(595-597)AAG>AAC p.K199N TBCD_uc002kfx.1_5'Flank|TBCD_uc002kfy.1_5'Flank|TBCD_uc002kfz.2_5'Flank NM_022158 NP_071441 Q9H479 FN3K_HUMAN fructosamine 3 kinase 199 fructoselysine metabolic process fructosamine-3-kinase activity 0 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) CGTAGGTGAAGATCCCGGATC 0.577 18 26 --- --- --- --- PASS LPIN2 9663 broad.mit.edu 37 18 2920816 2920816 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr18:2920816C>G uc002klo.2 - 19 2745 c.2506G>C c.(2506-2508)GGT>CGT p.G836R NM_014646 NP_055461 Q92539 LPIN2_HUMAN lipin 2 836 C-LIP. fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity ovary(1)|skin(1) 2 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) ATTAATTCACCCTTGGGGTTC 0.493 7 56 --- --- --- --- PASS SLC14A2 8170 broad.mit.edu 37 18 43262473 43262473 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr18:43262473G>A uc010dnj.2 + 21 3073 c.2752G>A c.(2752-2754)GAT>AAT p.D918N SLC14A2_uc002lbe.2_Missense_Mutation_p.D918N NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 918 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 TCAGGCCTACGATGTCTCCTA 0.498 9 36 --- --- --- --- PASS KIAA0427 9811 broad.mit.edu 37 18 46145966 46145966 + Silent SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr18:46145966C>T uc002ldc.2 + 2 315 c.30C>T c.(28-30)TCC>TCT p.S10S KIAA0427_uc002ldd.2_Silent_p.S10S NM_014772 NP_055587 O43310 CTIF_HUMAN hypothetical protein LOC9811 isoform 1 10 Interaction with NCBP1/CBP80. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding 0 CATCAGCCTCCTCGGAGGCAG 0.637 5 4 --- --- --- --- PASS DOT1L 84444 broad.mit.edu 37 19 2216567 2216567 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:2216567G>T uc002lvb.3 + 20 2247 c.2211G>T c.(2209-2211)CAG>CAT p.Q737H DOT1L_uc002lvc.1_Missense_Mutation_p.Q31H|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Missense_Mutation_p.Q31H NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 737 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACACGCCCCAGTACCTGGCCT 0.672 15 46 --- --- --- --- PASS ZNF556 80032 broad.mit.edu 37 19 2878324 2878324 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:2878324G>T uc002lwp.1 + 4 1455 c.1368G>T c.(1366-1368)AAG>AAT p.K456N ZNF556_uc002lwq.2_Missense_Mutation_p.K455N NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN zinc finger protein 556 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTACATCTAAGTAATGGGGGA 0.333 4 41 --- --- --- --- PASS STAP2 55620 broad.mit.edu 37 19 4333705 4333705 + Nonsense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:4333705C>A uc002mab.2 - 3 380 c.283G>T c.(283-285)GAG>TAG p.E95* STAP2_uc002mac.2_Nonsense_Mutation_p.E95*|STAP2_uc002mad.2_5'UTR NM_001013841 NP_001013863 Q9UGK3 STAP2_HUMAN signal transducing adaptor family member 2 95 PH. cytoplasm|nucleus protein binding central_nervous_system(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) AACTTGATCTCCTGATCCCGG 0.537 10 26 --- --- --- --- PASS C3 718 broad.mit.edu 37 19 6678018 6678018 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:6678018C>G uc002mfm.2 - 41 4929 c.4867G>C c.(4867-4869)GGG>CGG p.G1623R C3_uc002mfl.2_Missense_Mutation_p.G359R NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 1623 NTR. complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GTGTCCTTCCCGATGATGTAG 0.622 14 53 --- --- --- --- PASS INSR 3643 broad.mit.edu 37 19 7117363 7117363 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:7117363C>T uc002mgd.1 - 22 3962 c.3853G>A c.(3853-3855)GAG>AAG p.E1285K INSR_uc002mge.1_Missense_Mutation_p.E1273K NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 1285 Protein kinase.|Cytoplasmic (Potential). activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTGACAATCTCCAGGAAGGTT 0.597 16 55 --- --- --- --- PASS EVI5L 115704 broad.mit.edu 37 19 7913882 7913882 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:7913882C>T uc002min.2 + 4 557 c.403C>T c.(403-405)CCC>TCC p.P135S EVI5L_uc010xjz.1_Missense_Mutation_p.P135S|EVI5L_uc002mio.1_5'Flank NM_145245 NP_660288 Q96CN4 EVI5L_HUMAN ecotropic viral integration site 5-like isoform 135 Rab-GAP TBC. intracellular protein binding|Rab GTPase activator activity ovary(1) 1 CACGGACATGCCCGTCAAGAA 0.642 3 25 --- --- --- --- PASS ICAM1 3383 broad.mit.edu 37 19 10394882 10394882 + Missense_Mutation SNP T C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:10394882T>C uc002mnq.2 + 4 1130 c.811T>C c.(811-813)TCG>CCG p.S271P ICAM1_uc010xle.1_Missense_Mutation_p.S49P|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank NM_000201 NP_000192 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 precursor 271 Ig-like C2-type 3.|Extracellular (Potential). adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) CGACTCCTTCTCGGCCAAGGC 0.627 9 31 --- --- --- --- PASS KANK2 25959 broad.mit.edu 37 19 11304442 11304442 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:11304442C>T uc010dxv.2 - 6 872 c.314G>A c.(313-315)CGT>CAT p.R105H KANK2_uc002mqm.2_Missense_Mutation_p.R105H|KANK2_uc002mqo.3_Missense_Mutation_p.R105H|KANK2_uc002mqp.1_Translation_Start_Site|KANK2_uc002mqq.2_Missense_Mutation_p.R105H NM_015493 NP_056308 Q63ZY3 KANK2_HUMAN ankyrin repeat domain 25 isoform 1 105 0 GTAGAAGCCACGGCCGCAGTA 0.667 13 44 --- --- --- --- PASS TNPO2 30000 broad.mit.edu 37 19 12814277 12814277 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:12814277G>A uc002muo.2 - 19 2359 c.2174C>T c.(2173-2175)GCC>GTC p.A725V TNPO2_uc002mup.2_Missense_Mutation_p.A817V|TNPO2_uc002muq.2_Missense_Mutation_p.A725V|TNPO2_uc002mur.2_Missense_Mutation_p.A725V NM_001136196 NP_001129668 O14787 TNPO2_HUMAN transportin 2 (importin 3, karyopherin beta 2b) 725 HEAT 12. intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity ovary(1) 1 GGCCCAGGTGGCGTTGTTGCA 0.607 18 68 --- --- --- --- PASS AKAP8 10270 broad.mit.edu 37 19 15479110 15479110 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:15479110C>A uc002nav.2 - 9 1157 c.1096G>T c.(1096-1098)GAT>TAT p.D366Y AKAP8_uc010dzy.2_5'UTR|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_Missense_Mutation_p.D180Y NM_005858 NP_005849 O43823 AKAP8_HUMAN A-kinase anchor protein 8 366 signal transduction nuclear matrix ovary(1)|breast(1) 2 ttcttcacatcctcgtcctcg 0.458 12 72 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22155187 22155187 + Missense_Mutation SNP A C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:22155187A>C uc002nqp.2 - 5 2498 c.2349T>G c.(2347-2349)CAT>CAG p.H783Q ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TCTCTCCAGTATGAATTTTCT 0.373 18 46 --- --- --- --- PASS TSHZ3 57616 broad.mit.edu 37 19 31767946 31767946 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:31767946G>A uc002nsy.3 - 2 2818 c.2753C>T c.(2752-2754)TCA>TTA p.S918L NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 918 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) CTTCCCTTCTGAGGTCTGCCG 0.632 4 18 --- --- --- --- PASS LRP3 4037 broad.mit.edu 37 19 33698454 33698454 + Silent SNP C T T rs150965907 TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:33698454C>T uc010edh.2 + 7 2379 c.2286C>T c.(2284-2286)AGC>AGT p.S762S LRP3_uc002nuk.3_Silent_p.S636S NM_002333 NP_002324 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 762 Cytoplasmic (Potential). receptor-mediated endocytosis coated pit|integral to membrane receptor activity pancreas(2)|ovary(1) 3 Esophageal squamous(110;0.137) TGGAGGCCAGCGATGATGAGG 0.652 5 10 --- --- --- --- PASS ZNF181 339318 broad.mit.edu 37 19 35231910 35231910 + Silent SNP A G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:35231910A>G uc002nvu.3 + 4 1087 c.624A>G c.(622-624)AAA>AAG p.K208K ZNF181_uc010xsa.1_Silent_p.K207K|ZNF181_uc010xsb.1_Silent_p.K207K|ZNF181_uc010xsc.1_Silent_p.K143K NM_001029997 NP_001025168 Q2M3W8 ZN181_HUMAN zinc finger protein 181 isoform 1 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 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) GTGGAAAGAAACTTTTGAATT 0.343 11 90 --- --- --- --- PASS NPHS1 4868 broad.mit.edu 37 19 36330159 36330159 + Missense_Mutation SNP T A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:36330159T>A uc002oby.2 - 22 3089 c.3089A>T c.(3088-3090)CAG>CTG p.Q1030L NPHS1_uc010eem.1_RNA NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 1030 Fibronectin type-III.|Extracellular (Potential). cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GATGGGAAGCTGGGTCCCTTT 0.473 22 52 --- --- --- --- PASS GGN 199720 broad.mit.edu 37 19 38876086 38876086 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:38876086G>T uc002oij.1 - 3 1951 c.1816C>A c.(1816-1818)CGC>AGC p.R606S GGN_uc002oik.1_RNA|GGN_uc010efy.1_3'UTR NM_152657 NP_689870 Q86UU5 GGN_HUMAN gametogenetin 606 Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity). cell differentiation|multicellular organismal development|spermatogenesis 0 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CGTGGCAGGCGGCGATGGCGT 0.637 4 23 --- --- --- --- PASS SAMD4B 55095 broad.mit.edu 37 19 39866417 39866417 + Silent SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:39866417C>G uc002olb.2 + 7 1830 c.795C>G c.(793-795)CCC>CCG p.P265P SAMD4B_uc002ola.2_Silent_p.P265P NM_018028 NP_060498 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 265 protein binding 0 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) TTACCACGCCCGATCACGCAC 0.647 16 115 --- --- --- --- PASS CEACAM8 1088 broad.mit.edu 37 19 43092999 43092999 + Missense_Mutation SNP A T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:43092999A>T uc002oud.2 - 4 997 c.895T>A c.(895-897)TGC>AGC p.C299S uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron NM_001816 NP_001807 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion 299 Ig-like C2-type 2. immune response anchored to membrane|extracellular space|integral to plasma membrane ovary(1) 1 Prostate(69;0.00899) GTGGTGTGGCAGGCATAGGAT 0.493 16 65 --- --- --- --- PASS PHLDB3 653583 broad.mit.edu 37 19 43998909 43998909 + Missense_Mutation SNP T C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:43998909T>C uc002own.3 - 9 1353 c.1094A>G c.(1093-1095)CAC>CGC p.H365R PHLDB3_uc010eit.2_Missense_Mutation_p.H69R NM_198850 NP_942147 Q6NSJ2 PHLB3_HUMAN pleckstrin homology-like domain, family B, 365 0 Prostate(69;0.0153) GGCAGCGGAGTGGGCCACGGC 0.592 4 10 --- --- --- --- PASS SYMPK 8189 broad.mit.edu 37 19 46318944 46318944 + Silent SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:46318944C>T uc002pdn.2 - 27 3944 c.3699G>A c.(3697-3699)GCG>GCA p.A1233A RSPH6A_uc002pdm.2_5'Flank NM_004819 NP_004810 Q92797 SYMPK_HUMAN symplekin 1233 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding ovary(1) 1 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) TCAGCCCGCCCGCTGCCGTCT 0.701 3 13 --- --- --- --- PASS SYMPK 8189 broad.mit.edu 37 19 46331129 46331129 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:46331129G>A uc002pdn.2 - 15 2278 c.2033C>T c.(2032-2034)GCC>GTC p.A678V SYMPK_uc002pdo.1_Missense_Mutation_p.A678V|SYMPK_uc002pdp.1_Missense_Mutation_p.A678V NM_004819 NP_004810 Q92797 SYMPK_HUMAN symplekin 678 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding ovary(1) 1 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) CACCTCCAGGGCACTCTCTGT 0.652 29 101 --- --- --- --- PASS IGFL3 388555 broad.mit.edu 37 19 46627157 46627157 + Silent SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:46627157G>A uc002pea.1 - 3 361 c.336C>T c.(334-336)TCC>TCT p.S112S NM_207393 NP_997276 Q6UXB1 IGFL3_HUMAN IGF-like family member 3 precursor 112 extracellular region protein binding 0 Ovarian(192;0.0175)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239) TACAGCTCCGGGAGATGGGAG 0.493 51 165 --- --- --- --- PASS SLC8A2 6543 broad.mit.edu 37 19 47969318 47969318 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:47969318C>T uc002pgx.2 - 2 621 c.343G>A c.(343-345)GAG>AAG p.E115K SLC8A2_uc010xyq.1_Intron|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.E115K NM_015063 NP_055878 Q9UPR5 NAC2_HUMAN solute carrier family 8 member 2 precursor 115 Cytoplasmic (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(1) 4 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) ACGCTGGTCTCACCGTTGGCC 0.577 13 48 --- --- --- --- PASS PNKP 11284 broad.mit.edu 37 19 50365447 50365447 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:50365447G>A uc002pqh.2 - 11 1173 c.1121C>T c.(1120-1122)CCT>CTT p.P374L PNKP_uc002pqg.2_Missense_Mutation_p.P155L|PNKP_uc002pqi.2_Missense_Mutation_p.P335L|PNKP_uc002pqj.2_Missense_Mutation_p.P374L|PNKP_uc010enm.2_Missense_Mutation_p.P343L|PNKP_uc002pqk.2_Missense_Mutation_p.P374L NM_007254 NP_009185 Q96T60 PNKP_HUMAN polynucleotide kinase 3' phosphatase 374 ATP (Potential). DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding ovary(1)|kidney(1) 2 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) CTTACCCCCAGGGAATCCCAC 0.692 Other_BER_factors 4 8 --- --- --- --- PASS LILRA2 11027 broad.mit.edu 37 19 55086198 55086198 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:55086198G>C uc002qgg.3 + 4 442 c.353G>C c.(352-354)GGA>GCA p.G118A LILRA2_uc010ern.2_Missense_Mutation_p.G118A|LILRA2_uc002qgf.2_Missense_Mutation_p.G118A|LILRA2_uc010yfe.1_Missense_Mutation_p.G118A|LILRA2_uc010yff.1_Missense_Mutation_p.G106A|LILRA2_uc010ero.2_Missense_Mutation_p.G106A|LILRA2_uc010yfg.1_Missense_Mutation_p.G118A NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 118 Extracellular (Potential).|Ig-like C2-type 2. defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) TCTCTCCTAGGAGCCTACAGC 0.607 11 71 --- --- --- --- PASS NLRP2 55655 broad.mit.edu 37 19 55494355 55494355 + Missense_Mutation SNP T G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:55494355T>G uc002qij.2 + 6 1375 c.1289T>G c.(1288-1290)CTG>CGG p.L430R NLRP2_uc010yfp.1_Missense_Mutation_p.L407R|NLRP2_uc010esn.2_Missense_Mutation_p.L406R|NLRP2_uc010eso.2_Missense_Mutation_p.L427R|NLRP2_uc010esp.2_Missense_Mutation_p.L408R NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 430 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GGGCTGTTCCTGCGTTTCCTC 0.721 4 8 --- --- --- --- PASS ZNF470 388566 broad.mit.edu 37 19 57089577 57089577 + Nonsense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:57089577G>T uc002qnl.3 + 6 2456 c.1780G>T c.(1780-1782)GAA>TAA p.E594* ZNF470_uc010etn.2_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN zinc finger protein 470 594 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) AAGACCGTATGAATGTCTTGA 0.433 16 64 --- --- --- --- PASS ZNF548 147694 broad.mit.edu 37 19 57909797 57909797 + Splice_Site SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:57909797G>T uc002qom.2 + 3 393 c.143_splice c.e3-1 p.G48_splice ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Splice_Site_p.G51_splice NM_152909 NP_690873 Q8NEK5 ZN548_HUMAN zinc finger protein 548 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGTTCTGACAGGTTCTTGGCA 0.507 14 51 --- --- --- --- PASS ZNF416 55659 broad.mit.edu 37 19 58084835 58084835 + Missense_Mutation SNP T G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr19:58084835T>G uc002qpf.2 - 4 608 c.437A>C c.(436-438)GAG>GCG p.E146A ZNF547_uc002qpm.3_Intron NM_017879 NP_060349 Q9BWM5 ZN416_HUMAN zinc finger protein 416 146 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) CAAGGGTTTCTCTGCACTATG 0.522 12 27 --- --- --- --- PASS SIRPD 128646 broad.mit.edu 37 20 1532540 1532540 + Missense_Mutation SNP T A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr20:1532540T>A uc002wfi.2 - 2 262 c.218A>T c.(217-219)AAA>ATA p.K73I NM_178460 NP_848555 Q9H106 SIRPD_HUMAN signal-regulatory protein delta precursor 73 Ig-like V-type. extracellular region ovary(1)|kidney(1)|skin(1) 3 GTAGATTAATTTCCGGTTTGG 0.458 9 45 --- --- --- --- PASS SIRPG 55423 broad.mit.edu 37 20 1629992 1629992 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr20:1629992C>T uc002wfm.1 - 2 201 c.136G>A c.(136-138)GGA>AGA p.G46R SIRPG_uc002wfn.1_Missense_Mutation_p.G46R|SIRPG_uc002wfo.1_Missense_Mutation_p.G46R NM_018556 NP_061026 Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma isoform 1 46 Extracellular (Potential).|Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding ovary(1) 1 GCTGTCTTTCCAACTGTGACC 0.512 9 43 --- --- --- --- PASS SIGLEC1 6614 broad.mit.edu 37 20 3675336 3675336 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr20:3675336G>A uc002wja.2 - 11 2918 c.2918C>T c.(2917-2919)GCT>GTT p.A973V SIGLEC1_uc002wjb.1_5'Flank|SIGLEC1_uc002wiz.3_Missense_Mutation_p.A973V NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 973 Ig-like C2-type 9.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 GATGGGTGCAGCTAGGCTCGT 0.602 10 30 --- --- --- --- PASS PRNT 149830 broad.mit.edu 37 20 4713082 4713082 + RNA SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr20:4713082C>G uc002wlb.2 - 2 c.942G>C PRNT_uc010zqp.1_RNA|PRNT_uc010zqq.1_RNA NR_024268 Homo sapiens mRNA for putative M8 protein, isoform 2. 0 gcctggcagtccactggaatc 0.149 3 6 --- --- --- --- PASS RALGAPA2 57186 broad.mit.edu 37 20 20392785 20392785 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr20:20392785C>T uc002wrz.2 - 38 5646 c.5503G>A c.(5503-5505)GAG>AAG p.E1835K RALGAPA2_uc010gcx.2_Missense_Mutation_p.E1539K|RALGAPA2_uc010zsg.1_Missense_Mutation_p.E1283K NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 1835 Rap-GAP. activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 AGAGCTCGCTCTTCATAGCTG 0.458 32 100 --- --- --- --- PASS KIAA0406 9675 broad.mit.edu 37 20 36625155 36625155 + Silent SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr20:36625155G>A uc002xhl.2 - 7 3203 c.2994C>T c.(2992-2994)GAC>GAT p.D998D KIAA0406_uc002xhm.2_Silent_p.D998D NM_014657 NP_055472 O43156 TTI1_HUMAN hypothetical protein LOC9675 998 binding 0 Myeloproliferative disorder(115;0.00874) ACCCACCTAGGTCCAGTCTCT 0.612 24 90 --- --- --- --- PASS PREX1 57580 broad.mit.edu 37 20 47249125 47249125 + Silent SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr20:47249125G>A uc002xtw.1 - 34 4343 c.4320C>T c.(4318-4320)ATC>ATT p.I1440I PREX1_uc002xtv.1_Silent_p.I737I NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 1440 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CGAGGTAGAAGATGACCTTCA 0.612 13 27 --- --- --- --- PASS BCAS1 8537 broad.mit.edu 37 20 52570017 52570017 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr20:52570017C>A uc002xws.2 - 11 1972 c.1634G>T c.(1633-1635)AGA>ATA p.R545I BCAS1_uc010zza.1_Missense_Mutation_p.R211I|BCAS1_uc010zzb.1_Missense_Mutation_p.R471I|BCAS1_uc010gim.2_Missense_Mutation_p.R401I|BCAS1_uc002xwt.2_Missense_Mutation_p.R531I|BCAS1_uc010gil.1_Missense_Mutation_p.R467I NM_003657 NP_003648 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 545 cytoplasm protein binding ovary(2)|central_nervous_system(1) 3 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) CTTCTCAGGTCTCTTTTGGAG 0.542 19 57 --- --- --- --- PASS CBLN4 140689 broad.mit.edu 37 20 54573783 54573783 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr20:54573783C>T uc002xxa.2 - 3 1221 c.436G>A c.(436-438)GTA>ATA p.V146I NM_080617 NP_542184 Q9NTU7 CBLN4_HUMAN cerebellin 4 precursor 146 C1q. cell junction|extracellular region|synapse ovary(3)|pancreas(1) 4 Colorectal(105;0.202) GCAGATATTACTGGTTTTCCA 0.353 7 42 --- --- --- --- PASS OSBPL2 9885 broad.mit.edu 37 20 60856156 60856156 + Silent SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr20:60856156C>A uc002yck.1 + 8 919 c.717C>A c.(715-717)GTC>GTA p.V239V OSBPL2_uc002ycl.1_Silent_p.V227V|OSBPL2_uc011aah.1_Silent_p.V147V|OSBPL2_uc002ycm.1_Silent_p.V51V NM_144498 NP_653081 Q9H1P3 OSBL2_HUMAN oxysterol-binding protein-like protein 2 isoform 239 lipid transport lipid binding ovary(1)|central_nervous_system(1) 2 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) CCTGCTGCGTCCACAACGTCA 0.532 26 84 --- --- --- --- PASS OPRL1 4987 broad.mit.edu 37 20 62724187 62724187 + Silent SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr20:62724187C>G uc002yic.2 + 3 516 c.114C>G c.(112-114)CTC>CTG p.L38L OPRL1_uc002yid.2_Silent_p.L38L|OPRL1_uc002yif.3_Silent_p.L38L NM_182647 NP_872588 P41146 OPRX_HUMAN opiate receptor-like 1 38 Extracellular (Potential). elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|skin(1) 2 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) ATCTGCTGCTCAATGCCAGCC 0.662 10 43 --- --- --- --- PASS KRTAP24-1 643803 broad.mit.edu 37 21 31654736 31654736 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr21:31654736G>C uc002ynv.2 - 1 541 c.515C>G c.(514-516)ACT>AGT p.T172S NM_001085455 NP_001078924 Q3LI83 KR241_HUMAN keratin associated protein 24-1 172 keratin filament structural molecule activity 0 ATACCCCAAAGTACTCAATCT 0.438 19 86 --- --- --- --- PASS BRWD1 54014 broad.mit.edu 37 21 40670440 40670440 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr21:40670440C>A uc002yxk.1 - 5 406 c.267G>T c.(265-267)TTG>TTT p.L89F BRWD1_uc002yxl.2_Missense_Mutation_p.L89F|BRWD1_uc002yxm.2_Missense_Mutation_p.L89F NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 89 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) TTTCTTTATCCAACATAGGAC 0.363 23 104 --- --- --- --- PASS TRPM2 7226 broad.mit.edu 37 21 45825915 45825915 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr21:45825915C>T uc002zet.1 + 19 2998 c.2785C>T c.(2785-2787)CGG>TGG p.R929W TRPM2_uc002zeu.1_Missense_Mutation_p.R929W|TRPM2_uc002zew.1_Missense_Mutation_p.R929W|TRPM2_uc010gpt.1_Missense_Mutation_p.R929W|TRPM2_uc002zex.1_Missense_Mutation_p.R715W|TRPM2_uc002zey.1_Missense_Mutation_p.R442W NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 929 Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 CATTGTGAAGCGGATGGTAAG 0.637 26 121 --- --- --- --- PASS COL6A2 1292 broad.mit.edu 37 21 47531447 47531447 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr21:47531447G>C uc002zia.1 + 2 139 c.57G>C c.(55-57)CAG>CAC p.Q19H COL6A2_uc002zhy.1_Missense_Mutation_p.Q19H|COL6A2_uc002zhz.1_Missense_Mutation_p.Q19H|COL6A2_uc002zib.1_Intron NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 19 axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) GGGCCATCCAGGCCCAGCAGC 0.672 6 29 --- --- --- --- PASS COL6A2 1292 broad.mit.edu 37 21 47531448 47531448 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr21:47531448G>T uc002zia.1 + 2 140 c.58G>T c.(58-60)GCC>TCC p.A20S COL6A2_uc002zhy.1_Missense_Mutation_p.A20S|COL6A2_uc002zhz.1_Missense_Mutation_p.A20S|COL6A2_uc002zib.1_Intron NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 20 axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) GGCCATCCAGGCCCAGCAGCA 0.672 7 29 --- --- --- --- PASS CCT8L2 150160 broad.mit.edu 37 22 17072241 17072241 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr22:17072241G>C uc002zlp.1 - 1 1460 c.1200C>G c.(1198-1200)TTC>TTG p.F400L NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 400 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GACATAGCTGGAAATAGGCAT 0.557 8 54 --- --- --- --- PASS TOP3B 8940 broad.mit.edu 37 22 22322090 22322090 + Splice_Site SNP T C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr22:22322090T>C uc002zvs.2 - 8 1174 c.739_splice c.e8-1 p.V247_splice TOP3B_uc010gtm.1_Splice_Site|TOP3B_uc002zvr.2_Splice_Site|TOP3B_uc010gtl.2_Splice_Site_p.V247_splice|TOP3B_uc002zvt.3_Splice_Site_p.V247_splice NM_003935 NP_003926 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding kidney(1) 1 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) AGTGTTAACCTGCAGGAAAAA 0.483 9 35 --- --- --- --- PASS ADORA2A 135 broad.mit.edu 37 22 24836814 24836814 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr22:24836814G>T uc002zzx.2 + 5 1359 c.596G>T c.(595-597)CGG>CTG p.R199L ADORA2A_uc002zzy.3_Missense_Mutation_p.R199L|ADORA2A_uc011ajs.1_Missense_Mutation_p.R60L|ADORA2A_uc010gup.2_Missense_Mutation_p.R199L|ADORA2A_uc010guq.2_Missense_Mutation_p.R199L|ADORA2A_uc003aab.2_Missense_Mutation_p.R199L|ADORA2A_uc003aac.2_Missense_Mutation_p.R60L|C22orf45_uc003aad.1_Intron NM_000675 NP_000666 P29274 AA2AR_HUMAN adenosine A2a receptor 199 Cytoplasmic. apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception integral to plasma membrane|membrane fraction enzyme binding 0 Colorectal(2;0.196) Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277) GTCTATTTGCGGATCTTCCTG 0.592 44 137 --- --- --- --- PASS HORMAD2 150280 broad.mit.edu 37 22 30572094 30572094 + Missense_Mutation SNP T C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr22:30572094T>C uc003agy.2 + 11 927 c.862T>C c.(862-864)TGC>CGC p.C288R NM_152510 NP_689723 Q8N7B1 HORM2_HUMAN HORMA domain containing 2 288 meiosis|mitosis chromosome|nucleus 0 Epithelial(10;0.125) AAGTTCTGAGTGCTCCAGGAA 0.383 8 21 --- --- --- --- PASS SLC35E4 339665 broad.mit.edu 37 22 31042935 31042935 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr22:31042935C>G uc003ais.1 + 2 1615 c.970C>G c.(970-972)CTT>GTT p.L324V SLC35E4_uc003ait.2_Intron NM_001001479 NP_001001479 Q6ICL7 S35E4_HUMAN solute carrier family 35, member E4 324 Helical; (Potential). integral to membrane 0 AGGAATGTTCCTTTACCACAA 0.627 15 46 --- --- --- --- PASS TRIOBP 11078 broad.mit.edu 37 22 38165342 38165342 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr22:38165342G>T uc003atr.2 + 21 7080 c.6809G>T c.(6808-6810)GGC>GTC p.G2270V TRIOBP_uc003atu.2_Missense_Mutation_p.G2098V|TRIOBP_uc003atw.2_Missense_Mutation_p.G557V|TRIOBP_uc003atx.1_Missense_Mutation_p.G153V|TRIOBP_uc010gxh.2_Missense_Mutation_p.G153V NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 2270 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) ATGGGCAATGGCTGCGGGCGC 0.667 5 11 --- --- --- --- PASS TNRC6B 23112 broad.mit.edu 37 22 40657837 40657837 + Silent SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr22:40657837G>A uc011aor.1 + 4 328 c.117G>A c.(115-117)GTG>GTA p.V39V TNRC6B_uc003aym.2_Silent_p.V75V|TNRC6B_uc003ayn.3_Silent_p.V39V|TNRC6B_uc003ayo.2_5'Flank NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B isoform 1 39 Potential. gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding 0 CTCTTTTAGTGCCCGAAGTGA 0.373 7 35 --- --- --- --- PASS PLXNB2 23654 broad.mit.edu 37 22 50728004 50728004 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr22:50728004G>A uc003bkv.3 - 3 1116 c.1010C>T c.(1009-1011)GCC>GTC p.A337V NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 337 Extracellular (Potential).|Sema. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GATGTCACGGGCCTCCCGGGT 0.677 12 23 --- --- --- --- PASS MXRA5 25878 broad.mit.edu 37 X 3242718 3242718 + Missense_Mutation SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:3242718G>C uc004crg.3 - 5 1165 c.1008C>G c.(1006-1008)ATC>ATG p.I336M NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 336 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) TTGGTTTCTTGATGTCACAGA 0.463 9 38 --- --- --- --- PASS SHROOM2 357 broad.mit.edu 37 X 9864571 9864571 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:9864571G>A uc004csu.1 + 4 2713 c.2623G>A c.(2623-2625)GAG>AAG p.E875K NM_001649 NP_001640 Q13796 SHRM2_HUMAN apical protein of Xenopus-like 875 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 Hepatocellular(5;0.000888) CACCTTTGCAGAGTATCAGGC 0.637 5 15 --- --- --- --- PASS MID1 4281 broad.mit.edu 37 X 10450578 10450578 + Missense_Mutation SNP A T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:10450578A>T uc004cte.3 - 5 1146 c.955T>A c.(955-957)TCT>ACT p.S319T MID1_uc004ctd.3_Missense_Mutation_p.S30T|MID1_uc004ctg.3_Missense_Mutation_p.S319T|MID1_uc004cth.3_Missense_Mutation_p.S281T|MID1_uc004ctk.3_Missense_Mutation_p.S319T|MID1_uc004cti.3_Missense_Mutation_p.S319T|MID1_uc004ctj.3_Missense_Mutation_p.S319T|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Missense_Mutation_p.S370T|MID1_uc004ctn.1_Missense_Mutation_p.S319T|MID1_uc004cto.1_Missense_Mutation_p.S281T|MID1_uc010ndw.1_Missense_Mutation_p.S30T|MID1_uc004cts.1_Missense_Mutation_p.S86T|MID1_uc004ctt.2_Missense_Mutation_p.S370T|MID1_uc004ctu.2_Missense_Mutation_p.S319T|MID1_uc004ctv.2_Missense_Mutation_p.S332T|MID1_uc004ctw.2_Missense_Mutation_p.S281T|MID1_uc010ndy.1_Missense_Mutation_p.S283T|MID1_uc004ctc.3_Missense_Mutation_p.S86T|MID1_uc004ctp.1_Intron|MID1_uc004ctq.1_Missense_Mutation_p.S86T|MID1_uc004ctr.1_Missense_Mutation_p.S86T|MID1_uc010ndu.1_Missense_Mutation_p.S86T|MID1_uc010ndv.1_Missense_Mutation_p.S30T|MID1_uc010ndx.1_RNA NM_033290 NP_150632 O15344 TRI18_HUMAN midline 1 319 microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding ovary(2)|pancreas(1) 3 TCCTTCAGAGAGTGTTCCGCT 0.522 19 60 --- --- --- --- PASS ARHGAP6 395 broad.mit.edu 37 X 11162211 11162211 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:11162211C>A uc004cup.1 - 11 2938 c.2065G>T c.(2065-2067)GCC>TCC p.A689S ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.A689S|ARHGAP6_uc004cum.1_Missense_Mutation_p.A486S|ARHGAP6_uc004cun.1_Missense_Mutation_p.A509S|ARHGAP6_uc010neb.1_Missense_Mutation_p.A511S|ARHGAP6_uc011mif.1_3'UTR NM_013427 NP_038286 O43182 RHG06_HUMAN Rho GTPase activating protein 6 isoform 1 689 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity urinary_tract(1)|lung(1) 2 CCCCCCGGGGCCGCGTCCTCT 0.582 OREG0019666 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 87 --- --- --- --- PASS MSL3 10943 broad.mit.edu 37 X 11783734 11783734 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:11783734C>T uc004cuw.2 + 9 1162 c.1057C>T c.(1057-1059)CGC>TGC p.R353C MSL3_uc004cuv.1_Missense_Mutation_p.R353C|MSL3_uc004cux.2_Missense_Mutation_p.R294C|MSL3_uc011mig.1_Missense_Mutation_p.R204C|MSL3_uc011mih.1_Missense_Mutation_p.R341C|MSL3_uc004cuy.2_Missense_Mutation_p.R187C NM_078629 NP_523353 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3-like 1 isoform a 353 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GCGGTCCACGCGCCACAGTGC 0.622 19 141 --- --- --- --- PASS RAB9A 9367 broad.mit.edu 37 X 13727078 13727078 + Silent SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:13727078C>T uc004cvm.2 + 3 395 c.213C>T c.(211-213)AGC>AGT p.S71S RAB9A_uc010neh.2_Silent_p.S71S NM_004251 NP_004242 P51151 RAB9A_HUMAN RAB9A, member RAS oncogene family 71 protein transport|small GTPase mediated signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane GDP binding|GTP binding|GTPase activity|protein binding ovary(1) 1 GATTCCGAAGCCTGAGGACAC 0.413 46 161 --- --- --- --- PASS FIGF 2277 broad.mit.edu 37 X 15365296 15365296 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:15365296C>G uc004cwt.1 - 6 1437 c.928G>C c.(928-930)GAC>CAC p.D310H NM_004469 NP_004460 O43915 VEGFD_HUMAN vascular endothelial growth factor D 310 4.|4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C. angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding ovary(1)|breast(1)|central_nervous_system(1) 3 Hepatocellular(33;0.183) CTGCAGGTGTCTGGGTGAAAT 0.423 31 97 --- --- --- --- PASS NHS 4810 broad.mit.edu 37 X 17750265 17750265 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:17750265C>A uc004cxx.2 + 8 4912 c.4574C>A c.(4573-4575)CCC>CAC p.P1525H NHS_uc011mix.1_Missense_Mutation_p.P1546H|NHS_uc004cxy.2_Missense_Mutation_p.P1369H|NHS_uc004cxz.2_Missense_Mutation_p.P1348H|NHS_uc004cya.2_Missense_Mutation_p.P1248H NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 1525 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) CCCATACTGCCCAAACCTCCT 0.547 10 64 --- --- --- --- PASS NHS 4810 broad.mit.edu 37 X 17750266 17750266 + Silent SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:17750266C>A uc004cxx.2 + 8 4913 c.4575C>A c.(4573-4575)CCC>CCA p.P1525P NHS_uc011mix.1_Silent_p.P1546P|NHS_uc004cxy.2_Silent_p.P1369P|NHS_uc004cxz.2_Silent_p.P1348P|NHS_uc004cya.2_Silent_p.P1248P NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 1525 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) CCATACTGCCCAAACCTCCTG 0.547 10 65 --- --- --- --- PASS PPEF1 5475 broad.mit.edu 37 X 18767943 18767943 + Missense_Mutation SNP A G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:18767943A>G uc004cyq.2 + 7 750 c.269A>G c.(268-270)GAC>GGC p.D90G PPEF1_uc004cyp.2_Missense_Mutation_p.D90G|PPEF1_uc004cyr.2_Missense_Mutation_p.D90G|PPEF1_uc004cys.2_Missense_Mutation_p.D90G|PPEF1_uc011mja.1_Missense_Mutation_p.D25G|PPEF1_uc011mjb.1_Missense_Mutation_p.D34G NM_006240 NP_006231 O14829 PPE1_HUMAN protein phosphatase with EF hand calcium-binding 90 detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity 0 Hepatocellular(33;0.183) AGCGAACAGGACATGAGGGAT 0.353 29 90 --- --- --- --- PASS GPR64 10149 broad.mit.edu 37 X 19025395 19025395 + Silent SNP T C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:19025395T>C uc004cyx.2 - 20 1811 c.1647A>G c.(1645-1647)ACA>ACG p.T549T GPR64_uc004cyy.2_Silent_p.T546T|GPR64_uc004cyz.2_Silent_p.T535T|GPR64_uc004czb.2_Silent_p.T549T|GPR64_uc004czc.2_Silent_p.T533T|GPR64_uc004czd.2_Silent_p.T525T|GPR64_uc004cze.2_Silent_p.T519T|GPR64_uc004czf.2_Silent_p.T511T|GPR64_uc004cza.2_Silent_p.T527T|GPR64_uc004cyw.2_Silent_p.T533T|GPR64_uc010nfj.2_Intron NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 isoform 1 549 Extracellular (Potential). neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity 0 Hepatocellular(33;0.183) TCACGTTTCTTGTCAAGTTCC 0.502 14 43 --- --- --- --- PASS DDX53 168400 broad.mit.edu 37 X 23018668 23018668 + Missense_Mutation SNP A G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:23018668A>G uc004daj.2 + 1 582 c.494A>G c.(493-495)AAG>AGG p.K165R NM_182699 NP_874358 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 165 nucleus ATP binding|ATP-dependent helicase activity|RNA binding large_intestine(1)|ovary(1)|kidney(1) 3 GAGTGCGAAAAGAGAAAATGG 0.428 21 73 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 32305785 32305785 + Missense_Mutation SNP G A A rs140791274 byFrequency TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:32305785G>A uc004dda.1 - 43 6395 c.6151C>T c.(6151-6153)CGG>TGG p.R2051W DMD_uc004dcw.2_Missense_Mutation_p.R707W|DMD_uc004dcx.2_Missense_Mutation_p.R710W|DMD_uc004dcz.2_Missense_Mutation_p.R1928W|DMD_uc004dcy.1_Missense_Mutation_p.R2047W|DMD_uc004ddb.1_Missense_Mutation_p.R2043W|DMD_uc010ngo.1_Intron|DMD_uc010ngn.1_RNA NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2051 Spectrin 14. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) ATGTCAATCCGACCTGAGCTT 0.348 11 35 --- --- --- --- PASS FAM47A 158724 broad.mit.edu 37 X 34150174 34150174 + Silent SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:34150174G>A uc004ddg.2 - 1 255 c.222C>T c.(220-222)GAC>GAT p.D74D NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 74 ovary(4)|central_nervous_system(1) 5 GTAAAAACTCGTCACGGCGAC 0.532 21 52 --- --- --- --- PASS CXorf59 286464 broad.mit.edu 37 X 36083860 36083860 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:36083860G>T uc004ddk.1 + 2 229 c.43G>T c.(43-45)GAT>TAT p.D15Y NM_173695 NP_775966 Q8N9S7 CX059_HUMAN hypothetical protein LOC286464 15 integral to membrane central_nervous_system(1) 1 TTTAAAGAATGGTAAGCTATG 0.308 6 27 --- --- --- --- PASS CXorf36 79742 broad.mit.edu 37 X 45060020 45060020 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:45060020C>A uc004dgg.2 - 1 127 c.52G>T c.(52-54)GCC>TCC p.A18S CXorf36_uc004dgi.3_Missense_Mutation_p.A18S NM_176819 NP_789789 Q9H7Y0 CX036_HUMAN hypothetical protein LOC79742 isoform 1 18 extracellular region lung(1) 1 AGCAGCAGGGCCAGCCAGCCA 0.632 9 18 --- --- --- --- PASS USP11 8237 broad.mit.edu 37 X 47101575 47101575 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:47101575G>T uc004dhp.2 + 10 1403 c.1403G>T c.(1402-1404)TGC>TTC p.C468F USP11_uc004dhq.2_Missense_Mutation_p.C195F NM_004651 NP_004642 P51784 UBP11_HUMAN ubiquitin specific peptidase 11 468 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1)|lung(1)|central_nervous_system(1) 3 ACGCTGGTGTGCCCCGATTGT 0.542 8 23 --- --- --- --- PASS GATA1 2623 broad.mit.edu 37 X 48650417 48650417 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:48650417C>A uc004dkq.3 + 3 478 c.387C>A c.(385-387)AGC>AGA p.S129R NM_002049 NP_002040 P15976 GATA1_HUMAN GATA binding protein 1 129 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.?(2)|p.V74_C199del(1) haematopoietic_and_lymphoid_tissue(246)|lung(2) 248 GAAAAGGCAGCACCAGCTTCC 0.612 Mis|F megakaryoblastic leukemia of Downs Syndrome 6 43 --- --- --- --- PASS CCDC120 90060 broad.mit.edu 37 X 48922153 48922153 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:48922153C>A uc010nik.2 + 6 1084 c.577C>A c.(577-579)CAG>AAG p.Q193K CCDC120_uc011mmq.1_Missense_Mutation_p.Q181K|CCDC120_uc004dmf.2_Missense_Mutation_p.Q193K|CCDC120_uc010nil.2_Missense_Mutation_p.Q193K|CCDC120_uc011mmr.1_Missense_Mutation_p.Q193K|CCDC120_uc011mms.1_Missense_Mutation_p.Q181K NM_033626 NP_296375 Q96HB5 CC120_HUMAN coiled-coil domain containing 120 isoform 3 193 protein binding pancreas(1) 1 GATCACCACCCAGGGAGTCTG 0.657 4 8 --- --- --- --- PASS PRICKLE3 4007 broad.mit.edu 37 X 49032245 49032245 + Missense_Mutation SNP G A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:49032245G>A uc004dmy.1 - 9 1651 c.1625C>T c.(1624-1626)TCG>TTG p.S542L PRICKLE3_uc011mmv.1_Missense_Mutation_p.S474L|PRICKLE3_uc011mmw.1_Missense_Mutation_p.S461L|PRICKLE3_uc011mmx.1_Missense_Mutation_p.S504L NM_006150 NP_006141 O43900 PRIC3_HUMAN LIM domain only 6 542 protein binding|zinc ion binding breast(1) 1 GCAAGATTCCGAGTCTGACCC 0.502 27 98 --- --- --- --- PASS GPR173 54328 broad.mit.edu 37 X 53105980 53105980 + Silent SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:53105980C>T uc004dru.2 + 2 435 c.177C>T c.(175-177)TAC>TAT p.Y59Y NM_018969 NP_061842 Q9NS66 GP173_HUMAN G protein-coupled receptor 173 59 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 CTCCTTACTACTTCCTGCTGG 0.597 11 58 --- --- --- --- PASS ITIH5L 347365 broad.mit.edu 37 X 54783783 54783783 + Silent SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:54783783G>T uc004dtj.2 - 8 2754 c.2724C>A c.(2722-2724)ATC>ATA p.I908I NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 908 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 TGGAACTTGAGATTGTATTTG 0.562 7 48 --- --- --- --- PASS FAAH2 158584 broad.mit.edu 37 X 57358226 57358226 + Missense_Mutation SNP T A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:57358226T>A uc004dvc.2 + 4 757 c.608T>A c.(607-609)GTA>GAA p.V203E NM_174912 NP_777572 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 203 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity ovary(3) 3 CAGCATATTGTAGGTGGAAGT 0.333 HNSCC(52;0.14) 21 83 --- --- --- --- PASS ZXDB 158586 broad.mit.edu 37 X 57618658 57618658 + Silent SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:57618658C>T uc004dvd.2 + 1 390 c.177C>T c.(175-177)CGC>CGT p.R59R NM_007157 NP_009088 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 59 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 ggcggcggcgcgAGGAGGCCA 0.537 4 11 --- --- --- --- PASS SPIN4 139886 broad.mit.edu 37 X 62570674 62570674 + Missense_Mutation SNP T G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:62570674T>G uc004dvf.2 - 1 545 c.25A>C c.(25-27)ATG>CTG p.M9L NM_001012968 NP_001012986 Q56A73 SPIN4_HUMAN spindlin family, member 4 9 gamete generation ovary(1)|lung(1) 2 TCTACCCCCATCGGAGGCACG 0.537 5 33 --- --- --- --- PASS MTMR8 55613 broad.mit.edu 37 X 63445176 63445176 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:63445176G>T uc011mou.1 - 10 1548 c.1480C>A c.(1480-1482)CTG>ATG p.L494M ASB12_uc004dvp.1_Missense_Mutation_p.L110M|ASB12_uc004dvq.1_Missense_Mutation_p.L119M|ASB12_uc004dvr.1_Missense_Mutation_p.L119M NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 310 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 ACACAGTCCAGATGGCCATGA 0.532 5 17 --- --- --- --- PASS LAS1L 81887 broad.mit.edu 37 X 64737901 64737901 + Silent SNP T A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:64737901T>A uc004dwa.1 - 12 1965 c.1893A>T c.(1891-1893)GGA>GGT p.G631G LAS1L_uc004dwc.1_Silent_p.G614G|LAS1L_uc004dwd.1_Silent_p.G572G|LAS1L_uc004dvy.1_Silent_p.G144G|LAS1L_uc004dvz.1_Silent_p.G144G NM_031206 NP_112483 Q9Y4W2 LAS1L_HUMAN LAS1-like 631 MLL1 complex|nucleolus protein binding ovary(3)|large_intestine(1) 4 CCTGCAAAGCTCCTCTTTTCT 0.483 5 21 --- --- --- --- PASS TAF1 6872 broad.mit.edu 37 X 70603821 70603821 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:70603821C>G uc004dzu.3 + 13 2005 c.1954C>G c.(1954-1956)CAA>GAA p.Q652E BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.Q673E NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 652 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) GATGAGAGAACAAGAGAGGCA 0.428 20 93 --- --- --- --- PASS TAF1 6872 broad.mit.edu 37 X 70621431 70621431 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:70621431C>G uc004dzu.3 + 25 3888 c.3837C>G c.(3835-3837)TGC>TGG p.C1279W BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.C1300W|TAF1_uc004dzv.3_Missense_Mutation_p.C453W NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 1279 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) ACAAATTCTGCCCCCTCTATT 0.443 12 73 --- --- --- --- PASS XIST 7503 broad.mit.edu 37 X 73066015 73066015 + RNA SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:73066015G>T uc004ebm.1 - 1 c.6574C>A NR_001564 Homo sapiens cDNA: FLJ21545 fis, clone COL06195. 0 CGCATACCAGGCCAGGAAAAA 0.512 15 86 --- --- --- --- PASS ZDHHC15 158866 broad.mit.edu 37 X 74641769 74641769 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:74641769C>A uc004ecg.2 - 9 1271 c.793G>T c.(793-795)GGC>TGC p.G265C ZDHHC15_uc004ech.2_Missense_Mutation_p.G256C|ZDHHC15_uc011mqo.1_RNA NM_144969 NP_659406 Q96MV8 ZDH15_HUMAN zinc finger, DHHC-type containing 15 isoform 1 265 integral to membrane zinc ion binding ovary(2) 2 TTGATGAAGCCAAGGTTGAAC 0.428 17 37 --- --- --- --- PASS MAGEE1 57692 broad.mit.edu 37 X 75650228 75650228 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:75650228G>T uc004ecm.1 + 1 2112 c.1905G>T c.(1903-1905)CAG>CAT p.Q635H NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 635 MAGE 1. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 TTGTATGGCAGCGTTACTTAG 0.478 10 24 --- --- --- --- PASS TAF9B 51616 broad.mit.edu 37 X 77393468 77393468 + Silent SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:77393468G>T uc004eda.2 - 3 332 c.261C>A c.(259-261)CCC>CCA p.P87P NM_015975 NP_057059 Q9HBM6 TAF9B_HUMAN transcription associated factor 9B 87 negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding 0 CATCTCTTGGGGGAGGAGAGG 0.338 18 76 --- --- --- --- PASS SATL1 340562 broad.mit.edu 37 X 84362765 84362765 + Missense_Mutation SNP A T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:84362765A>T uc011mqx.1 - 1 1210 c.1210T>A c.(1210-1212)TCA>ACA p.S404T SATL1_uc004een.2_Missense_Mutation_p.S404T NM_001163541 NP_001157013 Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 217 Gln-rich. N-acetyltransferase activity breast(2) 2 CTTGTGCCTGATTGGCTGGTG 0.532 21 66 --- --- --- --- PASS SYTL4 94121 broad.mit.edu 37 X 99956580 99956580 + Missense_Mutation SNP T C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:99956580T>C uc004egd.3 - 5 556 c.200A>G c.(199-201)CAG>CGG p.Q67R SYTL4_uc010nnc.2_Missense_Mutation_p.Q67R|SYTL4_uc004ege.3_Missense_Mutation_p.Q67R|SYTL4_uc004egf.3_Missense_Mutation_p.Q67R|SYTL4_uc004egg.3_Missense_Mutation_p.Q67R NM_080737 NP_542775 Q96C24 SYTL4_HUMAN synaptotagmin-like 4 67 RabBD.|FYVE-type. exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding ovary(2) 2 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAGGCTCTCCTGGCACCGGGC 0.547 13 81 --- --- --- --- PASS BTK 695 broad.mit.edu 37 X 100630170 100630170 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:100630170G>T uc004ehg.2 - 2 296 c.103C>A c.(103-105)CAC>AAC p.H35N BTK_uc010nnn.2_Missense_Mutation_p.H35N|BTK_uc010nno.2_Missense_Mutation_p.H69N|BTK_uc004ehi.2_Missense_Mutation_p.H35N NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 35 PH. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 GAGAGTTTGTGCACGGTCAAG 0.433 Agammaglobulinemia_X-linked 39 101 --- --- --- --- PASS CHRDL1 91851 broad.mit.edu 37 X 109963158 109963158 + Splice_Site SNP T A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:109963158T>A uc004eou.3 - 6 797 c.448_splice c.e6-1 p.E150_splice CHRDL1_uc004eov.2_Splice_Site_p.E144_splice|CHRDL1_uc004eow.2_Splice_Site_p.E149_splice|CHRDL1_uc010nps.2_Splice_Site_p.E149_splice|CHRDL1_uc004eot.2_Intron|CHRDL1_uc011mss.1_Intron|CHRDL1_uc004eox.3_Intron NM_001143981 NP_001137453 Q9BU40 CRDL1_HUMAN chordin-like 1 isoform 1 precursor BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region 0 GTTTCCCTCCTGCCAAGGAGA 0.468 13 31 --- --- --- --- PASS WDR44 54521 broad.mit.edu 37 X 117540902 117540902 + Silent SNP A G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:117540902A>G uc004eqn.2 + 10 1871 c.1446A>G c.(1444-1446)CCA>CCG p.P482P WDR44_uc004eqo.2_Silent_p.P482P|WDR44_uc011mtr.1_Silent_p.P457P|WDR44_uc010nqi.2_Silent_p.P192P NM_019045 NP_061918 Q5JSH3 WDR44_HUMAN WD repeat domain 44 protein 482 cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 ACACAAGACCAGTTAAATTCA 0.373 30 66 --- --- --- --- PASS C1GALT1C1 29071 broad.mit.edu 37 X 119760290 119760290 + Silent SNP A G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:119760290A>G uc004esy.2 - 3 1079 c.732T>C c.(730-732)GAT>GAC p.D244D C1GALT1C1_uc004esz.2_Silent_p.D244D NM_152692 NP_689905 Q96EU7 C1GLC_HUMAN C1GALT1-specific chaperone 1 244 Lumenal (Potential). integral to membrane 0 TATTAAATACATCTTTTCCAT 0.388 27 91 --- --- --- --- PASS STAG2 10735 broad.mit.edu 37 X 123224532 123224532 + Missense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:123224532C>T uc004etz.3 + 30 3724 c.3385C>T c.(3385-3387)CCC>TCC p.P1129S STAG2_uc004eua.2_Missense_Mutation_p.P1129S|STAG2_uc004eub.2_Missense_Mutation_p.P1129S|STAG2_uc004euc.2_Missense_Mutation_p.P1129S|STAG2_uc004eud.2_Missense_Mutation_p.P1129S|STAG2_uc004eue.2_Missense_Mutation_p.P1129S NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 1129 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 TATGAGAGAGCCCAAAAGATT 0.408 22 65 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123538947 123538947 + Silent SNP G C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:123538947G>C uc004euj.2 - 26 5368 c.5304C>G c.(5302-5304)CTC>CTG p.L1768L ODZ1_uc011muj.1_Silent_p.L1774L|ODZ1_uc010nqy.2_Silent_p.L1775L NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1768 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 GCCACTCGATGAGGTTTGCAT 0.517 24 77 --- --- --- --- PASS UTP14A 10813 broad.mit.edu 37 X 129063396 129063396 + Nonsense_Mutation SNP C T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:129063396C>T uc004euz.2 + 15 2156 c.2128C>T c.(2128-2130)CAG>TAG p.Q710* UTP14A_uc011mup.1_Nonsense_Mutation_p.Q658*|UTP14A_uc011muq.1_Nonsense_Mutation_p.Q656* NM_006649 NP_006640 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 710 rRNA processing nucleolus|small-subunit processome protein binding ovary(2) 2 ATGGAACACCCAGAGGGCTTT 0.507 22 64 --- --- --- --- PASS FRMD7 90167 broad.mit.edu 37 X 131219974 131219974 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:131219974C>G uc004ewn.2 - 6 649 c.471G>C c.(469-471)AAG>AAC p.K157N FRMD7_uc011muy.1_Missense_Mutation_p.K142N NM_194277 NP_919253 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 157 FERM. regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) AGTGCATGATCTTGCCCTCTA 0.453 36 117 --- --- --- --- PASS MAP7D3 79649 broad.mit.edu 37 X 135312596 135312596 + Silent SNP A T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:135312596A>T uc004ezt.2 - 10 1789 c.1698T>A c.(1696-1698)TCT>TCA p.S566S MAP7D3_uc004ezs.2_Silent_p.S530S|MAP7D3_uc011mwc.1_Silent_p.S548S|MAP7D3_uc010nsa.1_Silent_p.S524S NM_024597 NP_078873 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 566 Potential. cytoplasm|spindle ovary(2)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;0.000127) TAGTGGTTTTAGAAACTGTTT 0.353 16 98 --- --- --- --- PASS GPR112 139378 broad.mit.edu 37 X 135427978 135427978 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:135427978C>A uc004ezu.1 + 6 2404 c.2113C>A c.(2113-2115)CTG>ATG p.L705M GPR112_uc010nsb.1_Missense_Mutation_p.L500M|GPR112_uc010nsc.1_Missense_Mutation_p.L472M NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 705 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) TATCACCCCACTGAAAGCATC 0.393 14 64 --- --- --- --- PASS GPR112 139378 broad.mit.edu 37 X 135496412 135496412 + Nonsense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:135496412C>A uc004ezu.1 + 25 9422 c.9131C>A c.(9130-9132)TCA>TAA p.S3044* GPR112_uc010nsb.1_Nonsense_Mutation_p.S2839* NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 3044 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) TCTCTCAAGTCAACTGCAACT 0.418 41 138 --- --- --- --- PASS FGF13 2258 broad.mit.edu 37 X 137715014 137715014 + Silent SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:137715014C>G uc004fam.2 - 5 1397 c.735G>C c.(733-735)ACG>ACC p.T245T FGF13_uc004fan.2_Silent_p.T192T|FGF13_uc011mwi.1_Silent_p.T226T|FGF13_uc004faq.2_Silent_p.T255T|FGF13_uc004far.2_Silent_p.T226T|FGF13_uc011mwj.1_Silent_p.T255T|FGF13_uc011mwk.1_Silent_p.T199T NM_004114 NP_004105 Q92913 FGF13_HUMAN fibroblast growth factor 13 isoform 1 245 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) TCACTGGCTACGTTGATTCAT 0.502 42 132 --- --- --- --- PASS SLITRK4 139065 broad.mit.edu 37 X 142717782 142717782 + Missense_Mutation SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:142717782C>A uc004fbx.2 - 2 1519 c.1143G>T c.(1141-1143)AAG>AAT p.K381N SLITRK4_uc004fby.2_Missense_Mutation_p.K381N NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 381 Extracellular (Potential).|LRR 7. integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) TGACGTGCAGCTTCTTCGCAT 0.413 34 148 --- --- --- --- PASS PASD1 139135 broad.mit.edu 37 X 150817144 150817144 + Silent SNP T A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:150817144T>A uc004fev.3 + 9 1019 c.687T>A c.(685-687)GCT>GCA p.A229A NM_173493 NP_775764 Q8IV76 PASD1_HUMAN PAS domain containing 1 229 Poly-Ala. nucleus signal transducer activity ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) TTGAACCCgctgctgctgctg 0.348 22 72 --- --- --- --- PASS PNMA3 29944 broad.mit.edu 37 X 152226044 152226044 + Missense_Mutation SNP G T T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:152226044G>T uc004fhc.2 + 2 968 c.632G>T c.(631-633)GGC>GTC p.G211V PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank NM_013364 NP_037496 Q9UL41 PNMA3_HUMAN paraneoplastic cancer-testis-brain antigen 211 apoptosis nucleolus nucleic acid binding|zinc ion binding skin(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) tgcttacggggccctgctctc 0.000 19 72 --- --- --- --- PASS FLNA 2316 broad.mit.edu 37 X 153587658 153587658 + Missense_Mutation SNP C G G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:153587658C>G uc004fkk.2 - 25 4508 c.4259G>C c.(4258-4260)GGC>GCC p.G1420A FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.G1420A NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 1420 Filamin 12. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCTGTAGGTGCCAGCCTCATA 0.637 21 77 --- --- --- --- PASS FLNA 2316 broad.mit.edu 37 X 153595790 153595790 + Silent SNP C A A TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:153595790C>A uc004fkk.2 - 5 1092 c.843G>T c.(841-843)CCG>CCT p.P281P FLNA_uc010nuu.1_Silent_p.P281P NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 281 Filamin 1. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGGCTTTCTTCGGGTTCAGTT 0.622 14 48 --- --- --- --- PASS F8 2157 broad.mit.edu 37 X 154134724 154134724 + Missense_Mutation SNP T C C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chrX:154134724T>C uc004fmt.2 - 15 5515 c.5344A>G c.(5344-5346)ATA>GTA p.I1782V F8_uc010nvi.1_Translation_Start_Site NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 1782 F5/8 type A 3.|Plastocyanin-like 5. I -> R (in HEMA; severe sporadic). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TCTGCTCTTATATATGGCCCC 0.343 25 92 --- --- --- --- PASS MAGEF1 64110 broad.mit.edu 37 3 184429387 184429387 + Frame_Shift_Del DEL G - - TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 4c2ad4a0-5d57-4e27-9f35-058b2f205f50 50497294-50a7-42e2-b6f7-f5d379589860 g.chr3:184429387delG uc003fpa.2 - 1 450 c.223delC c.(223-225)CGGfs p.R75fs NM_022149 NP_071432 Q9HAY2 MAGF1_HUMAN melanoma antigen family F, 1 75 ovary(1) 1 all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22) CGATTCAGCCGGCGGTAGGCC 0.647 137 100 --- --- --- ---