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 CDK11B 984 broad.mit.edu 37 1 1571841 1571841 + Missense_Mutation SNP A C C rs150949339 TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:1571841A>C uc001agv.1 - 22 2031 c.1920T>G c.(1918-1920)GAT>GAG p.D640E CDK11B_uc009vkj.2_Missense_Mutation_p.D297E|CDK11B_uc001ags.1_Missense_Mutation_p.D498E|CDK11B_uc001agt.1_Missense_Mutation_p.D423E|CDK11B_uc001aha.1_Missense_Mutation_p.D606E|CDK11B_uc001agw.1_Missense_Mutation_p.D595E|CDK11B_uc001agy.1_Missense_Mutation_p.D638E|CDK11B_uc001agx.1_Missense_Mutation_p.D629E|CDK11B_uc001agz.1_Missense_Mutation_p.D384E NM_033486 NP_277021 P21127 CD11B_HUMAN cell division cycle 2-like 1 (PITSLRE proteins) 653 Protein kinase. apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding skin(1) 1 GGGTCCCCAGATCCTGAAAGA 0.577 4 11 --- --- --- --- PASS GABRD 2563 broad.mit.edu 37 1 1957004 1957004 + Silent SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:1957004G>A uc001aip.2 + 4 392 c.297G>A c.(295-297)AGG>AGA p.R99R NM_000815 NP_000806 O14764 GBRD_HUMAN gamma-aminobutyric acid (GABA) A receptor, delta 99 Extracellular (Probable). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) GGGACAGCAGGCTCTCCTACA 0.647 58 19 --- --- --- --- PASS SPEN 23013 broad.mit.edu 37 1 16264403 16264403 + Missense_Mutation SNP C G G rs61756184 TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:16264403C>G uc001axk.1 + 13 10810 c.10606C>G c.(10606-10608)CGG>GGG p.R3536G SPEN_uc010obp.1_Missense_Mutation_p.R3495G NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 3536 SPOC. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CCTGGCCCATCGGTCCCTGCC 0.627 57 76 --- --- --- --- PASS DCDC2B 149069 broad.mit.edu 37 1 32677697 32677697 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:32677697G>A uc001bun.2 + 4 422 c.422G>A c.(421-423)AGT>AAT p.S141N NM_001099434 NP_001092904 A2VCK2 DCD2B_HUMAN doublecortin domain containing 2B 141 Doublecortin 2. intracellular signal transduction 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) GACCTGGTAAGTCCCCCATTT 0.572 46 9 --- --- --- --- PASS GJA9 81025 broad.mit.edu 37 1 39340741 39340741 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:39340741G>C uc001cct.1 - 2 1311 c.1030C>G c.(1030-1032)CAA>GAA p.Q344E RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank NM_030772 NP_110399 P57773 CXA9_HUMAN gap junction protein, alpha 9, 59kDa 344 Cytoplasmic (Potential). cell communication connexon complex|integral to membrane 0 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) CTGATGTGTTGAAAATGACTA 0.313 36 104 --- --- --- --- PASS GJA9 81025 broad.mit.edu 37 1 39341106 39341106 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:39341106G>A uc001cct.1 - 2 946 c.665C>T c.(664-666)TCA>TTA p.S222L RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank NM_030772 NP_110399 P57773 CXA9_HUMAN gap junction protein, alpha 9, 59kDa 222 Helical; (Potential). cell communication connexon complex|integral to membrane 0 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) TAAGAAAAGTGAAATAGTGGC 0.338 29 90 --- --- --- --- PASS LEPRE1 64175 broad.mit.edu 37 1 43224593 43224593 + Silent SNP T A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:43224593T>A uc001chv.2 - 4 983 c.870A>T c.(868-870)CCA>CCT p.P290P LEPRE1_uc001chw.2_Silent_p.P290P|LEPRE1_uc001chx.3_Silent_p.P290P NM_022356 NP_071751 Q32P28 P3H1_HUMAN leprecan 1 isoform 1 290 negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix 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 3-dioxygenase activity ovary(3)|lung(1) 4 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TCTCTCGACTTGGGTGGGAAG 0.443 80 61 --- --- --- --- PASS MUTYH 4595 broad.mit.edu 37 1 45797904 45797904 + Silent SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:45797904C>A uc001cnm.2 - 10 1074 c.858G>T c.(856-858)GTG>GTT p.V286V MUTYH_uc009vxn.2_Silent_p.V111V|MUTYH_uc001cnf.2_Silent_p.V261V|MUTYH_uc009vxo.2_Silent_p.V261V|MUTYH_uc001cng.2_Silent_p.V272V|MUTYH_uc001cnj.2_Silent_p.V169V|MUTYH_uc001cni.2_Silent_p.V261V|MUTYH_uc001cnh.2_Silent_p.V262V|MUTYH_uc001cno.2_Silent_p.V169V|MUTYH_uc001cnk.2_Silent_p.V146V|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Silent_p.V275V|MUTYH_uc009vxp.2_Silent_p.V289V|MUTYH_uc001cnn.2_Silent_p.V276V NM_012222 NP_036354 Q9UIF7 MUTYH_HUMAN mutY homolog isoform 1 286 depurination|mismatch repair nucleoplasm 4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding 0 Acute lymphoblastic leukemia(166;0.155) GTGGGGTACACACTGTGGCCC 0.627 Mis colorectal BER_DNA_glycosylases MUTYH-associated_polyposis 24 31 --- --- --- --- PASS C1orf175 374977 broad.mit.edu 37 1 55144477 55144477 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:55144477G>T uc010ooe.1 + 11 2323 c.1999G>T c.(1999-2001)GGG>TGG p.G667W C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Missense_Mutation_p.G235W|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.G185W|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.G667W|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN hypothetical protein LOC374977 667 integral to membrane binding 0 GCATTTCCTGGGGCCCTACAA 0.577 19 37 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75097473 75097473 + Missense_Mutation SNP T C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:75097473T>C uc001dgg.2 - 7 962 c.743A>G c.(742-744)AAT>AGT p.N248S C1orf173_uc001dgi.3_Missense_Mutation_p.N42S NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 248 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TTCAGATCTATTTTCTCTTGT 0.378 59 117 --- --- --- --- PASS CRYZ 1429 broad.mit.edu 37 1 75185016 75185016 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:75185016C>A uc001dgk.2 - 5 810 c.305G>T c.(304-306)GGT>GTT p.G102V CRYZ_uc001dgj.2_Missense_Mutation_p.G102V|CRYZ_uc001dgl.2_Missense_Mutation_p.G102V|CRYZ_uc001dgm.2_Intron NM_001130042 NP_001123514 Q08257 QOR_HUMAN crystallin, zeta isoform a 102 protein homotetramerization|visual perception|xenobiotic catabolic process cytosol|Golgi apparatus mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding 0 Dicumarol(DB00266) CTCTGCATAACCCCCAGAGAT 0.403 36 55 --- --- --- --- PASS SLC44A5 204962 broad.mit.edu 37 1 75684271 75684271 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:75684271G>A uc001dgu.2 - 17 1577 c.1433C>T c.(1432-1434)GCC>GTC p.A478V SLC44A5_uc001dgt.2_Missense_Mutation_p.A478V|SLC44A5_uc001dgs.2_Missense_Mutation_p.A436V|SLC44A5_uc001dgr.2_Missense_Mutation_p.A436V|SLC44A5_uc010oqz.1_Missense_Mutation_p.A517V|SLC44A5_uc010ora.1_Missense_Mutation_p.A472V|SLC44A5_uc010orb.1_Missense_Mutation_p.A348V NM_152697 NP_689910 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 isoform A 478 Helical; (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity ovary(2)|skin(2) 4 ACCAGCAAGGGCGCACTGACC 0.433 82 131 --- --- --- --- PASS SLC44A5 204962 broad.mit.edu 37 1 75699737 75699737 + Silent SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:75699737G>A uc001dgu.2 - 12 931 c.787C>T c.(787-789)CTG>TTG p.L263L SLC44A5_uc001dgt.2_Silent_p.L263L|SLC44A5_uc001dgs.2_Silent_p.L221L|SLC44A5_uc001dgr.2_Silent_p.L221L|SLC44A5_uc010oqz.1_Silent_p.L302L|SLC44A5_uc010ora.1_Silent_p.L257L|SLC44A5_uc010orb.1_Silent_p.L133L NM_152697 NP_689910 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 isoform A 263 Helical; (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity ovary(2)|skin(2) 4 ATGAACCTCAGAAGTATCAAA 0.398 53 116 --- --- --- --- PASS LPHN2 23266 broad.mit.edu 37 1 82408659 82408659 + Missense_Mutation SNP T C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:82408659T>C uc001dit.3 + 6 585 c.404T>C c.(403-405)GTG>GCG p.V135A LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.V135A|LPHN2_uc001div.2_Missense_Mutation_p.V135A|LPHN2_uc009wcd.2_Missense_Mutation_p.V135A NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 135 Extracellular (Potential).|Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TTAGTTTTTGTGTGTCCTGGG 0.398 59 120 --- --- --- --- PASS GCLM 2730 broad.mit.edu 37 1 94360225 94360225 + Silent SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:94360225C>T uc001dqg.1 - 6 893 c.600G>A c.(598-600)TTG>TTA p.L200L NM_002061 NP_002052 P48507 GSH0_HUMAN glutamate-cysteine ligase regulatory protein 200 glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process cytosol|soluble fraction glutamate-cysteine ligase catalytic subunit binding ovary(1) 1 all_lung(203;0.000815)|Lung NSC(277;0.00363) all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) CAAATGCAGTCAAATCTGGTG 0.323 67 118 --- --- --- --- PASS ARHGAP29 9411 broad.mit.edu 37 1 94645435 94645435 + Missense_Mutation SNP C G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:94645435C>G uc001dqj.3 - 20 2695 c.2326G>C c.(2326-2328)GAA>CAA p.E776Q ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Missense_Mutation_p.E342Q NM_004815 NP_004806 Q52LW3 RHG29_HUMAN PTPL1-associated RhoGAP 1 776 Rho-GAP. Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1) 11 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) GTCTCTTGTTCTTCATTTACA 0.299 44 104 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103400066 103400066 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:103400066C>A uc001dul.2 - 46 3857 c.3539G>T c.(3538-3540)GGG>GTG p.G1180V COL11A1_uc001duk.2_Missense_Mutation_p.G376V|COL11A1_uc001dum.2_Missense_Mutation_p.G1192V|COL11A1_uc001dun.2_Missense_Mutation_p.G1141V|COL11A1_uc009weh.2_Missense_Mutation_p.G1064V NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1180 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ACCTTTTTGCCCAAACATCCC 0.453 24 71 --- --- --- --- PASS C1orf59 113802 broad.mit.edu 37 1 109198244 109198244 + Missense_Mutation SNP C A A rs141386408 TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:109198244C>A uc001dvt.3 - 4 465 c.227G>T c.(226-228)GGA>GTA p.G76V C1orf59_uc001dvu.3_Missense_Mutation_p.G76V|C1orf59_uc009wer.2_Missense_Mutation_p.G76V NM_001102592 NP_001096062 Q5T8I9 HENMT_HUMAN hypothetical protein LOC113802 76 gene silencing by RNA|piRNA metabolic process P granule metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity 0 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0152)|Lung(183;0.0895)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.163) AATATCTACTCCAACAAGCAA 0.353 14 53 --- --- --- --- PASS DENND2D 79961 broad.mit.edu 37 1 111739856 111739856 + Missense_Mutation SNP C T T rs140232654 byFrequency TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:111739856C>T uc001eak.1 - 5 646 c.446G>A c.(445-447)CGC>CAC p.R149H DENND2D_uc001eal.1_Missense_Mutation_p.R146H NM_024901 NP_079177 Q9H6A0 DEN2D_HUMAN DENN/MADD domain containing 2D 149 DENN. ovary(1) 1 all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499) Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14) TTTGGGAAGGCGAGGGCCAGG 0.607 7 15 --- --- --- --- PASS HIPK1 204851 broad.mit.edu 37 1 114505001 114505001 + Missense_Mutation SNP A G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:114505001A>G uc001eem.2 + 9 2205 c.2044A>G c.(2044-2046)ATT>GTT p.I682V HIPK1_uc001eel.2_Missense_Mutation_p.I682V|HIPK1_uc001een.2_Missense_Mutation_p.I682V|HIPK1_uc001eeo.2_Missense_Mutation_p.I308V|HIPK1_uc001eep.2_Missense_Mutation_p.I288V|HIPK1_uc001eeq.2_5'Flank NM_198268 NP_938009 Q86Z02 HIPK1_HUMAN homeodomain-interacting protein kinase 1 isoform 682 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity ovary(4) 4 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-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) TGCTGTACCGATTGTACCCCA 0.443 23 61 --- --- --- --- PASS SYT6 148281 broad.mit.edu 37 1 114680233 114680233 + Missense_Mutation SNP A T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:114680233A>T uc001eev.2 - 3 950 c.700T>A c.(700-702)TTT>ATT p.F234I NM_205848 NP_995320 Q5T7P8 SYT6_HUMAN synaptotagmin VI 319 Cytoplasmic (Potential).|C2 1. Calcium 1; via carbonyl oxygen (By similarity). acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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) AAGCGGTCAAAGTCGAAGACA 0.552 17 25 --- --- --- --- PASS SYCP1 6847 broad.mit.edu 37 1 115438085 115438085 + Silent SNP T C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:115438085T>C uc001efr.2 + 16 1484 c.1275T>C c.(1273-1275)CTT>CTC p.L425L SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Silent_p.L425L|SYCP1_uc009wgw.2_Silent_p.L425L NM_003176 NP_003167 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 425 Potential. cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TGACTAAGCTTACAAATAACA 0.279 5 10 --- --- --- --- PASS NUDT17 200035 broad.mit.edu 37 1 145587438 145587438 + Silent SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:145587438C>T uc001eoe.2 - 6 650 c.642G>A c.(640-642)CTG>CTA p.L214L NBPF10_uc001emp.3_Intron NM_001012758 NP_001012776 P0C025 NUD17_HUMAN nudix (nucleoside diphosphate linked moiety 214 Nudix hydrolase. hydrolase activity|metal ion binding 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CATCTGGTGTCAGCCACATAA 0.597 94 54 --- --- --- --- PASS HIST2H2BF 440689 broad.mit.edu 37 1 149783853 149783853 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:149783853G>A uc001esr.2 - 1 76 c.26C>T c.(25-27)CCT>CTT p.P9L HIST2H2BF_uc010pbj.1_Missense_Mutation_p.P9L|HIST2H2BF_uc010pbk.1_Missense_Mutation_p.P9L NM_001024599 NP_001019770 Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf isoform a 9 nucleosome assembly nucleosome|nucleus DNA binding 0 Breast(34;0.0124)|all_hematologic(923;0.127) CTTGGGAGCAGGAGCGGATTT 0.512 123 117 --- --- --- --- PASS LCE3A 353142 broad.mit.edu 37 1 152595380 152595380 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:152595380G>C uc010pdt.1 - 1 200 c.200C>G c.(199-201)TCC>TGC p.S67C NM_178431 NP_848518 Q5TA76 LCE3A_HUMAN late cornified envelope 3A 67 keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCTGTCACAGGAGTTGGAGCT 0.607 56 56 --- --- --- --- PASS LCE2C 353140 broad.mit.edu 37 1 152648673 152648673 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:152648673G>T uc001fah.2 + 2 237 c.182G>T c.(181-183)GGG>GTG p.G61V NM_178429 NP_848516 Q5TA81 LCE2C_HUMAN late cornified envelope 2C 61 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCCAGCTCTGGGGGCTGCTGC 0.627 42 113 --- --- --- --- PASS LCE1B 353132 broad.mit.edu 37 1 152784941 152784941 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:152784941C>A uc001faq.2 + 1 495 c.19C>A c.(19-21)CAG>AAG p.Q7K NM_178349 NP_848126 Q5T7P3 LCE1B_HUMAN late cornified envelope 1B 7 keratinization 0 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCAGCAGAACCAGCAGCAGTG 0.483 20 111 --- --- --- --- PASS LCE1B 353132 broad.mit.edu 37 1 152785258 152785258 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:152785258G>T uc001faq.2 + 1 812 c.336G>T c.(334-336)CAG>CAT p.Q112H NM_178349 NP_848126 Q5T7P3 LCE1B_HUMAN late cornified envelope 1B 112 Gly-rich. keratinization 0 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGAGTGGCCAGCACTCTGGAG 0.612 37 31 --- --- --- --- PASS KCNN3 3782 broad.mit.edu 37 1 154841969 154841969 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:154841969C>T uc001ffp.2 - 1 786 c.472G>A c.(472-474)GCC>ACC p.A158T KCNN3_uc009wox.1_Missense_Mutation_p.A158T NM_002249 NP_002240 Q9UGI6 KCNN3_HUMAN small conductance calcium-activated potassium 163 integral to membrane calmodulin binding lung(1) 1 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) AGGGGGCTGGCCTGTCGGTGC 0.637 8 20 --- --- --- --- PASS FCRL2 79368 broad.mit.edu 37 1 157740362 157740362 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:157740362C>T uc001fre.2 - 3 206 c.147G>A c.(145-147)ATG>ATA p.M49I FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.M49I|FCRL2_uc009wsp.2_Missense_Mutation_p.M49I|FCRL2_uc010pia.1_Missense_Mutation_p.M49I NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 49 Ig-like C2-type 1.|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) TATGGTAAGCCATCTTCTGAA 0.408 55 78 --- --- --- --- PASS OR6K3 391114 broad.mit.edu 37 1 158687140 158687140 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:158687140G>T uc010pip.1 - 1 814 c.814C>A c.(814-816)CTC>ATC p.L272I NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, 272 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(112;0.0378) AAGTACATGAGTGATACACTG 0.448 50 94 --- --- --- --- PASS KCNJ9 3765 broad.mit.edu 37 1 160054134 160054134 + Missense_Mutation SNP A G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:160054134A>G uc001fuy.1 + 2 556 c.314A>G c.(313-315)AAC>AGC p.N105S NM_004983 NP_004974 Q92806 IRK9_HUMAN potassium inwardly-rectifying channel subfamily 105 Extracellular (By similarity). synaptic transmission integral to membrane|plasma membrane G-protein activated inward rectifier potassium channel activity|protein binding ovary(1)|skin(1) 2 all_cancers(52;5.86e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AACAACCTCAACGGCTTCGTG 0.667 13 38 --- --- --- --- PASS IGSF8 93185 broad.mit.edu 37 1 160061685 160061685 + Silent SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:160061685C>A uc001fva.2 - 6 1815 c.1770G>T c.(1768-1770)GTG>GTT p.V590V IGSF8_uc001fuz.2_Silent_p.V590V|IGSF8_uc009wtf.2_Silent_p.V590V NM_052868 NP_443100 Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 590 Helical; (Potential). cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding 0 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TGACTAGGGCCACCCCTGTAC 0.552 57 53 --- --- --- --- PASS ADAMTS4 9507 broad.mit.edu 37 1 161167800 161167800 + Silent SNP T C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:161167800T>C uc001fyt.3 - 1 1046 c.618A>G c.(616-618)AGA>AGG p.R206R ADAMTS4_uc001fyu.2_Silent_p.R206R|NDUFS2_uc001fyv.2_5'Flank NM_005099 NP_005090 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 206 proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding ovary(4)|central_nervous_system(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CTCTTCGGGGTCTGGGGCTGG 0.622 41 44 --- --- --- --- PASS GPA33 10223 broad.mit.edu 37 1 167059522 167059522 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:167059522C>A uc001gea.1 - 1 347 c.3G>T c.(1-3)ATG>ATT p.M1I NM_005814 NP_005805 Q99795 GPA33_HUMAN transmembrane glycoprotein A33 precursor 1 integral to plasma membrane receptor activity 0 TCTTCCCCACCATGGTCTTGC 0.577 13 15 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176564468 176564468 + Silent SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:176564468C>A uc001gkz.2 + 3 2892 c.1728C>A c.(1726-1728)ACC>ACA p.T576T PAPPA2_uc001gky.1_Silent_p.T576T|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 576 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 ACAATTCCACCCTGCGACACC 0.577 34 98 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176758968 176758968 + Missense_Mutation SNP T A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:176758968T>A uc001gkz.2 + 18 5903 c.4739T>A c.(4738-4740)CTG>CAG p.L1580Q PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1580 Sushi 3. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 ATACAATGCCTGGAAGGTGGA 0.448 40 30 --- --- --- --- PASS CACNA1E 777 broad.mit.edu 37 1 181767820 181767820 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:181767820C>A uc001gow.2 + 47 6828 c.6663C>A c.(6661-6663)AAC>AAA p.N2221K CACNA1E_uc009wxs.2_Missense_Mutation_p.N2109K|CACNA1E_uc009wxt.2_Missense_Mutation_p.N1490K NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 2264 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 GCCGTTCCAACACCATCGGCT 0.662 5 5 --- --- --- --- PASS C1orf26 54823 broad.mit.edu 37 1 185240491 185240491 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:185240491G>C uc001grg.3 + 17 2592 c.2478G>C c.(2476-2478)GAG>GAC p.E826D C1orf26_uc001grh.3_Missense_Mutation_p.E826D NM_001105518 NP_001098988 Q5T5J6 SWT1_HUMAN hypothetical protein LOC54823 826 0 AAGATGTTGAGACCCTCTATA 0.274 22 102 --- --- --- --- PASS FAM5C 339479 broad.mit.edu 37 1 190250787 190250787 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:190250787G>T uc001gse.1 - 3 562 c.330C>A c.(328-330)AAC>AAA p.N110K FAM5C_uc010pot.1_Intron NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 110 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) AAAGTCTTATGTTGCGGAAGA 0.448 65 85 --- --- --- --- PASS KIF21B 23046 broad.mit.edu 37 1 200959153 200959153 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:200959153C>A uc001gvs.1 - 21 3366 c.3049G>T c.(3049-3051)GAC>TAC p.D1017Y KIF21B_uc001gvr.1_Missense_Mutation_p.D1017Y|KIF21B_uc009wzl.1_Missense_Mutation_p.D1017Y|KIF21B_uc010ppn.1_Missense_Mutation_p.D1017Y NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 1017 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 ACGGATGTGTCTGTGGAGTCC 0.642 21 58 --- --- --- --- PASS IPO9 55705 broad.mit.edu 37 1 201839746 201839746 + Silent SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:201839746G>A uc001gwz.2 + 18 2219 c.2169G>A c.(2167-2169)GTG>GTA p.V723V NM_018085 NP_060555 Q96P70 IPO9_HUMAN importin 9 723 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity ovary(2) 2 ATGTGTCAGTGACCCTGGAAC 0.582 37 71 --- --- --- --- PASS ELF3 1999 broad.mit.edu 37 1 201980363 201980363 + Silent SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:201980363C>T uc001gxg.3 + 1 3291 c.99C>T c.(97-99)GCC>GCT p.A33A ELF3_uc001gxi.3_Silent_p.A33A|ELF3_uc001gxh.3_Silent_p.A33A NM_004433 NP_004424 P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription 33 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 CCCCTGCTGCCACCTTTGGGG 0.577 119 102 --- --- --- --- PASS SPATA17 128153 broad.mit.edu 37 1 217947719 217947719 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:217947719C>T uc001hlh.1 + 7 589 c.563C>T c.(562-564)CCA>CTA p.P188L SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Missense_Mutation_p.P188L NM_138796 NP_620151 Q96L03 SPT17_HUMAN spermatogenesis associated 17 188 cytoplasm calmodulin binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) GAGCCTGATCCATGGGAGCTG 0.383 81 81 --- --- --- --- PASS EPRS 2058 broad.mit.edu 37 1 220152953 220152953 + Missense_Mutation SNP C G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:220152953C>G uc001hly.1 - 27 3986 c.3716G>C c.(3715-3717)GGA>GCA p.G1239A NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 1239 Prolyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) ATGTGATGTTCCTCCCTAAAA 0.328 36 102 --- --- --- --- PASS SNAP47 116841 broad.mit.edu 37 1 227947172 227947172 + Nonsense_Mutation SNP C G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:227947172C>G uc001hrf.2 + 3 1523 c.1109C>G c.(1108-1110)TCA>TGA p.S370* SNAP47_uc001hqz.2_Nonsense_Mutation_p.S325*|SNAP47_uc001hra.2_Nonsense_Mutation_p.S128*|SNAP47_uc001hrd.2_Nonsense_Mutation_p.S370*|SNAP47_uc001hre.2_Nonsense_Mutation_p.S128*|SNAP47_uc001hrg.1_Nonsense_Mutation_p.S325* NM_053052 NP_444280 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa 370 endomembrane system|membrane|perinuclear region of cytoplasm p.S370*(1) ovary(1) 1 AAGAGCTGCTCAGTCTGGCAT 0.517 55 195 --- --- --- --- PASS TTC13 79573 broad.mit.edu 37 1 231079575 231079575 + Missense_Mutation SNP C G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:231079575C>G uc001huf.3 - 6 680 c.649G>C c.(649-651)GAG>CAG p.E217Q TTC13_uc009xfi.2_Intron|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Intron|TTC13_uc009xfk.1_Intron NM_024525 NP_078801 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 isoform a 217 TPR 2. binding ovary(1)|skin(1) 2 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) TCAAATACCTCTGGACGATCT 0.388 66 192 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237551473 237551473 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:237551473G>C uc001hyl.1 + 10 883 c.763G>C c.(763-765)GAG>CAG p.E255Q NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 255 Cytoplasmic (By similarity).|MIR 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACATGGTGAAGAGCAGCGGAG 0.453 19 50 --- --- --- --- PASS FH 2271 broad.mit.edu 37 1 241667398 241667398 + Nonsense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:241667398G>T uc001hyx.2 - 7 1084 c.1052C>A c.(1051-1053)TCA>TAA p.S351* NM_000143 NP_000134 P07954 FUMH_HUMAN fumarate hydratase precursor 351 fumarate metabolic process|tricarboxylic acid cycle cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex fumarate hydratase activity lung(3)|ovary(1)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118) OV - Ovarian serous cystadenocarcinoma(106;0.0214) Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109) TCCCAGACCTGACCGAGGACC 0.303 Mis|N|F lieomyomatosis|renal Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer 24 41 --- --- --- --- PASS AHCTF1 25909 broad.mit.edu 37 1 247024468 247024468 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:247024468G>C uc001ibu.1 - 28 3872 c.3865C>G c.(3865-3867)CAA>GAA p.Q1289E AHCTF1_uc001ibv.1_Missense_Mutation_p.Q1298E|AHCTF1_uc009xgs.1_Missense_Mutation_p.Q150E|AHCTF1_uc001ibw.1_RNA NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN transcription factor ELYS 1289 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding ovary(5)|skin(2) 7 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TCCATTTCTTGATGCTCCTTT 0.418 36 130 --- --- --- --- PASS OR2T27 403239 broad.mit.edu 37 1 248813788 248813788 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:248813788G>T uc010pzo.1 - 1 398 c.398C>A c.(397-399)CCT>CAT p.P133H NM_001001824 NP_001001824 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, 133 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CATGAGGACAGGATAGTGCAG 0.547 13 71 --- --- --- --- PASS GEN1 348654 broad.mit.edu 37 2 17952508 17952508 + Silent SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:17952508G>T uc002rct.2 + 7 829 c.756G>T c.(754-756)CTG>CTT p.L252L SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Silent_p.L252L|GEN1_uc002rcu.2_Silent_p.L252L NM_182625 NP_872431 Q17RS7 GEN_HUMAN Gen homolog 1, endonuclease 252 DNA repair nucleus DNA binding|endonuclease activity|metal ion binding breast(5)|kidney(1)|central_nervous_system(1)|skin(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GTCCACAACTGCTAGTCACTA 0.353 Homologous_recombination 49 32 --- --- --- --- PASS SLC8A1 6546 broad.mit.edu 37 2 40655902 40655902 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:40655902C>A uc002rrx.2 - 1 1543 c.1519G>T c.(1519-1521)GAT>TAT p.D507Y SLC8A1_uc002rry.2_Missense_Mutation_p.D507Y|SLC8A1_uc002rrz.2_Missense_Mutation_p.D507Y|SLC8A1_uc002rsa.2_Missense_Mutation_p.D507Y|SLC8A1_uc002rsd.3_Missense_Mutation_p.D507Y|SLC8A1_uc002rsb.1_Missense_Mutation_p.D507Y|SLC8A1_uc010fan.1_Missense_Mutation_p.D507Y|SLC8A1_uc002rsc.1_Missense_Mutation_p.D507Y NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 507 Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AGTATGCCATCTTCTGAAGCT 0.423 151 108 --- --- --- --- PASS ZFP36L2 678 broad.mit.edu 37 2 43452889 43452889 + Silent SNP T A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:43452889T>A uc002rsv.3 - 2 345 c.54A>T c.(52-54)ACA>ACT p.T18T LOC100129726_uc010ynx.1_5'Flank NM_006887 NP_008818 P47974 TISD_HUMAN zinc finger protein 36, C3H type-like 2 18 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) GGGATTTCTCTGTCTGCCAAA 0.622 44 33 --- --- --- --- PASS PSME4 23198 broad.mit.edu 37 2 54164584 54164584 + Silent SNP A G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:54164584A>G uc002rxp.2 - 5 695 c.639T>C c.(637-639)TAT>TAC p.Y213Y PSME4_uc010yop.1_Silent_p.Y99Y|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 213 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) ATATTTCAAAATAAGTGATGG 0.368 180 135 --- --- --- --- PASS CCDC85A 114800 broad.mit.edu 37 2 56420271 56420271 + Silent SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:56420271G>T uc002rzn.2 + 2 1438 c.936G>T c.(934-936)GGG>GGT p.G312G NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 312 His-rich. breast(3)|ovary(2) 5 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TGCTGAGTGGGAGCCCGGAAC 0.642 25 182 --- --- --- --- PASS USP34 9736 broad.mit.edu 37 2 61439041 61439041 + Silent SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:61439041C>A uc002sbe.2 - 69 8728 c.8706G>T c.(8704-8706)CTG>CTT p.L2902L NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 2902 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) ACAGCTGCATCAGGTTAAACA 0.348 22 181 --- --- --- --- PASS FBXO41 150726 broad.mit.edu 37 2 73487572 73487572 + Silent SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:73487572C>T uc002sjb.1 - 11 2577 c.2577G>A c.(2575-2577)GAG>GAA p.E859E NM_001080410 NP_001073879 Q8TF61 FBX41_HUMAN F-box protein 41 798 intracellular protein binding|zinc ion binding breast(2)|pancreas(1) 3 GCACCAGCATCTCCAGTCCCT 0.617 8 16 --- --- --- --- PASS LRRTM4 80059 broad.mit.edu 37 2 76975851 76975851 + Silent SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:76975851C>T uc002snr.2 - 4 2158 c.1743G>A c.(1741-1743)CCG>CCA p.P581P LRRTM4_uc002snq.2_Silent_p.P581P NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 581 Cytoplasmic (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) GGTAGATGGCCGGTGCTGCCG 0.597 94 117 --- --- --- --- PASS REG1A 5967 broad.mit.edu 37 2 79349207 79349207 + Missense_Mutation SNP A C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:79349207A>C uc002snz.2 + 4 380 c.277A>C c.(277-279)ACT>CCT p.T93P REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Missense_Mutation_p.T93P NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 93 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 GGAGAGTGGCACTGATGACTT 0.507 42 131 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89278031 89278031 + RNA SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:89278031C>A uc010ytr.1 - 88 c.7353G>T uc002stl.2_Intron Parts of antibodies, mostly variable regions. GCAAAATCTTCAGGCTGCAGG 0.478 21 51 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89309597 89309597 + RNA SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:89309597C>A uc010ytr.1 - 74 c.6750G>T uc002stl.2_Intron Parts of antibodies, mostly variable regions. TGGGACCCCACTTTGCAAAGT 0.498 164 126 --- --- --- --- PASS AFF3 3899 broad.mit.edu 37 2 100210742 100210742 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:100210742C>T uc002tag.2 - 14 1617 c.1381G>A c.(1381-1383)GCA>ACA p.A461T AFF3_uc002taf.2_Missense_Mutation_p.A486T|AFF3_uc010fiq.1_Missense_Mutation_p.A461T|AFF3_uc010yvr.1_Missense_Mutation_p.A614T|AFF3_uc002tah.1_Missense_Mutation_p.A486T NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 461 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 TTAGAGGATGCCGGTTCAGCC 0.443 5 347 --- --- --- --- PASS AFF3 3899 broad.mit.edu 37 2 100623800 100623800 + Silent SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:100623800C>A uc002tag.2 - 5 533 c.297G>T c.(295-297)GGG>GGT p.G99G AFF3_uc002taf.2_Silent_p.G124G|AFF3_uc010fiq.1_Silent_p.G99G|AFF3_uc010yvr.1_Silent_p.G253G|AFF3_uc002tah.1_Silent_p.G124G|AFF3_uc010fir.1_Silent_p.G176G|AFF3_uc002tai.2_Silent_p.G21G NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 99 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 TCTGAGGAACCCCAGGTTTGG 0.443 93 129 --- --- --- --- PASS GPR45 11250 broad.mit.edu 37 2 105859164 105859164 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:105859164C>A uc002tco.1 + 1 965 c.849C>A c.(847-849)CAC>CAA p.H283Q NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 283 Helical; Name=6; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 GGCTGCCCCACTCCGTCTACA 0.582 199 244 --- --- --- --- PASS RANBP2 5903 broad.mit.edu 37 2 109347290 109347290 + Silent SNP T C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:109347290T>C uc002tem.3 + 3 327 c.201T>C c.(199-201)GGT>GGC p.G67G NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 67 TPR. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 GATTTCTGGGTCTTCTTTATG 0.338 113 505 --- --- --- --- PASS FAM123C 205147 broad.mit.edu 37 2 131521188 131521188 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:131521188G>A uc002trw.2 + 2 1733 c.1543G>A c.(1543-1545)GGC>AGC p.G515S FAM123C_uc010fmv.2_Missense_Mutation_p.G515S|FAM123C_uc010fms.1_Missense_Mutation_p.G515S|FAM123C_uc010fmt.1_Missense_Mutation_p.G515S|FAM123C_uc010fmu.1_Missense_Mutation_p.G515S NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 515 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GCTGCGCCGAGGCCCCACGCC 0.682 6 8 --- --- --- --- PASS ARHGEF4 50649 broad.mit.edu 37 2 131801050 131801050 + Nonsense_Mutation SNP C G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:131801050C>G uc002tsa.1 + 11 2013 c.1493C>G c.(1492-1494)TCA>TGA p.S498* ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Nonsense_Mutation_p.S498*|ARHGEF4_uc010fmx.1_Nonsense_Mutation_p.S438*|ARHGEF4_uc002tsc.1_Nonsense_Mutation_p.S41* NM_015320 NP_056135 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor 4 isoform 498 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity breast(3)|ovary(2)|skin(1) 6 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) GTCAGGAGCTCAGAACTCATC 0.542 33 105 --- --- --- --- PASS UBXN4 23190 broad.mit.edu 37 2 136537796 136537796 + Missense_Mutation SNP A C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:136537796A>C uc002tur.2 + 12 1540 c.1229A>C c.(1228-1230)GAC>GCC p.D410A UBXN4_uc002tus.2_Missense_Mutation_p.D176A|UBXN4_uc002tut.2_Missense_Mutation_p.D46A NM_014607 NP_055422 Q92575 UBXN4_HUMAN UBX domain containing 2 410 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|nuclear envelope protein binding skin(2) 2 TCCAGCGGAGACATTTGGACC 0.423 128 103 --- --- --- --- PASS THSD7B 80731 broad.mit.edu 37 2 137852569 137852569 + Silent SNP A G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:137852569A>G uc002tva.1 + 3 984 c.984A>G c.(982-984)CCA>CCG p.P328P THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Silent_p.P218P NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) GTCTCTTGCCAGGATTTAGGA 0.537 74 42 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141264380 141264380 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:141264380C>T uc002tvj.1 - 53 9478 c.8506G>A c.(8506-8508)GAG>AAG p.E2836K NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2836 Extracellular (Potential).|LDL-receptor class A 18. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGCGGTGACTCATCAGAGCCA 0.368 TSP Lung(27;0.18) 101 259 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141625764 141625764 + Missense_Mutation SNP C G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:141625764C>G uc002tvj.1 - 26 5210 c.4238G>C c.(4237-4239)GGG>GCG p.G1413A LRP1B_uc010fnl.1_Missense_Mutation_p.G595A NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1413 Extracellular (Potential).|LDL-receptor class B 11. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GGTTTTTCTCCCAGCACCACT 0.383 TSP Lung(27;0.18) 94 91 --- --- --- --- PASS BAZ2B 29994 broad.mit.edu 37 2 160206824 160206824 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:160206824C>T uc002uao.2 - 28 4610 c.4258G>A c.(4258-4260)GAA>AAA p.E1420K BAZ2B_uc002uap.2_Missense_Mutation_p.E1384K NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1420 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 TGGACACTTTCTGCCTTTTTC 0.328 9 48 --- --- --- --- PASS MARCH7 64844 broad.mit.edu 37 2 160605213 160605213 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:160605213G>A uc002uax.2 + 5 1534 c.1412G>A c.(1411-1413)AGA>AAA p.R471K MARCH7_uc010foq.2_Missense_Mutation_p.R471K|MARCH7_uc010zcn.1_Missense_Mutation_p.R415K|MARCH7_uc010for.2_Missense_Mutation_p.R433K|MARCH7_uc002uay.2_RNA NM_022826 NP_073737 Q9H992 MARH7_HUMAN axotrophin 471 ligase activity|zinc ion binding 0 CAAGGTGGAAGAAATACAGGA 0.483 143 357 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166847808 166847808 + Missense_Mutation SNP T C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:166847808T>C uc010zcz.1 - 26 5962 c.5944A>G c.(5944-5946)ATT>GTT p.I1982V NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1993 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TTTTCCACAATTGGCTTTGTC 0.353 53 84 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166915146 166915146 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:166915146G>A uc010zcz.1 - 2 335 c.317C>T c.(316-318)TCT>TTT p.S106F SCN1A_uc002udo.3_5'Flank|SCN1A_uc010fpk.2_5'Flank NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 106 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GTACAGGGCAGAGGTGGCACT 0.338 62 100 --- --- --- --- PASS B3GALT1 8708 broad.mit.edu 37 2 168726259 168726259 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:168726259C>T uc002udz.1 + 2 1061 c.710C>T c.(709-711)TCG>TTG p.S237L NM_020981 NP_066191 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 237 Lumenal (Potential). lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(2)|pancreas(1)|skin(1) 4 CCTTTCTGTTCGGGGACTGGC 0.488 26 135 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170070280 170070280 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:170070280G>T uc002ues.2 - 36 6140 c.5927C>A c.(5926-5928)ACT>AAT p.T1976N NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1976 LDL-receptor class B 19.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CTGTTCATCAGTATAATAAAG 0.428 132 181 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170135900 170135900 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:170135900G>A uc002ues.2 - 12 1760 c.1547C>T c.(1546-1548)GCC>GTC p.A516V LRP2_uc010zdf.1_Missense_Mutation_p.A516V NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 516 LDL-receptor class B 2.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TGGGTCCACGGCAATTCCTCT 0.403 5 229 --- --- --- --- PASS NFE2L2 4780 broad.mit.edu 37 2 178098953 178098953 + Missense_Mutation SNP C G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:178098953C>G uc002ulh.3 - 2 647 c.92G>C c.(91-93)GGA>GCA p.G31A NFE2L2_uc002ulg.3_Missense_Mutation_p.G15A|NFE2L2_uc010zfa.1_Missense_Mutation_p.G15A|NFE2L2_uc002uli.3_Missense_Mutation_p.G15A|NFE2L2_uc010fra.2_Missense_Mutation_p.G15A|NFE2L2_uc010frb.2_Missense_Mutation_p.G15A NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 31 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G31R(1) central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TCGACTTACTCCAAGATCTAT 0.363 Mis NSCLC|HNSCC HNSCC(56;0.16) 50 42 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179438157 179438157 + Silent SNP A T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:179438157A>T uc010zfg.1 - 275 65222 c.64998T>A c.(64996-64998)ATT>ATA p.I21666I uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.I15361I|TTN_uc010zfi.1_Silent_p.I15294I|TTN_uc010zfj.1_Silent_p.I15169I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22593 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) AATCTTTAGTAATAGTTGTCA 0.463 102 125 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179574553 179574553 + Missense_Mutation SNP C G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:179574553C>G uc010zfg.1 - 96 24985 c.24761G>C c.(24760-24762)AGA>ACA p.R8254T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R4915T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9181 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) CTCTGAGAGTCTTTTAGTGAA 0.388 38 136 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179590299 179590299 + Missense_Mutation SNP C G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:179590299C>G uc010zfg.1 - 68 17124 c.16900G>C c.(16900-16902)GAA>CAA p.E5634Q TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E2295Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6561 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) TGGGCGCCTTCTATGGATGCT 0.433 54 67 --- --- --- --- PASS UBE2E3 10477 broad.mit.edu 37 2 181846838 181846838 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:181846838C>A uc002unq.1 + 3 288 c.69C>A c.(67-69)GAC>GAA p.D23E UBE2E3_uc002unr.1_Missense_Mutation_p.D23E|UBE2E3_uc010fri.1_Missense_Mutation_p.D23E NM_182678 NP_872619 Q969T4 UB2E3_HUMAN ubiquitin-conjugating enzyme E2E 3 23 protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth cytoplasm|nucleolus ATP binding|protein binding|ubiquitin-protein ligase activity ovary(1) 1 CAGATGCGGACCAGCGAGACC 0.498 32 49 --- --- --- --- PASS UBE2E3 10477 broad.mit.edu 37 2 181927582 181927582 + Silent SNP A T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:181927582A>T uc002unq.1 + 7 810 c.591A>T c.(589-591)ATA>ATT p.I197I UBE2E3_uc002unr.1_Silent_p.I197I|UBE2E3_uc010fri.1_Silent_p.I197I NM_182678 NP_872619 Q969T4 UB2E3_HUMAN ubiquitin-conjugating enzyme E2E 3 197 protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth cytoplasm|nucleolus ATP binding|protein binding|ubiquitin-protein ligase activity ovary(1) 1 ACGACAGGATAGCCAGACAGT 0.423 21 37 --- --- --- --- PASS NCKAP1 10787 broad.mit.edu 37 2 183822189 183822189 + Missense_Mutation SNP T C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:183822189T>C uc002upc.2 - 19 2419 c.2017A>G c.(2017-2019)ACC>GCC p.T673A NCKAP1_uc002upb.2_Missense_Mutation_p.T679A NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 isoform 1 673 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) ACTTACTTGGTCACAACCAGC 0.353 159 212 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 186697939 186697939 + RNA SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:186697939C>A uc002upm.2 + 7 c.3792C>A uc010zfu.1_Missense_Mutation_p.Q1402K Homo sapiens cDNA FLJ44048 fis, clone TESTI4030669. ACCAGCTCACCAGGATGAACA 0.333 62 95 --- --- --- --- PASS CLK1 1195 broad.mit.edu 37 2 201726069 201726069 + Missense_Mutation SNP T G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:201726069T>G uc002uwe.2 - 3 463 c.282A>C c.(280-282)GAA>GAC p.E94D CLK1_uc010zhi.1_Missense_Mutation_p.E136D|CLK1_uc002uwf.2_5'UTR|CLK1_uc002uwg.2_5'UTR|CLK1_uc010fsv.2_RNA NM_004071 NP_004062 P49759 CLK1_HUMAN CDC-like kinase 1 isoform 1 94 cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity pancreas(2) 2 GATACCGGCTTTCATGGTCTC 0.408 206 264 --- --- --- --- PASS PIKFYVE 200576 broad.mit.edu 37 2 209168915 209168915 + Silent SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:209168915G>A uc002vcz.2 + 11 1499 c.1341G>A c.(1339-1341)ACG>ACA p.T447T PIKFYVE_uc010fun.1_Silent_p.T128T|PIKFYVE_uc002vcy.1_Silent_p.T447T|PIKFYVE_uc002vcv.2_Silent_p.T350T|PIKFYVE_uc002vcw.2_Silent_p.T447T|PIKFYVE_uc002vcx.2_Silent_p.T361T NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 447 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 TTTCTGAGACGCCTTCTCCCG 0.433 57 157 --- --- --- --- PASS SPAG16 79582 broad.mit.edu 37 2 214204974 214204974 + Silent SNP A G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:214204974A>G uc002veq.2 + 6 716 c.624A>G c.(622-624)AAA>AAG p.K208K SPAG16_uc010fuz.1_Silent_p.K59K|SPAG16_uc002ver.2_Silent_p.K154K|SPAG16_uc010zjk.1_Silent_p.K114K|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Silent_p.K177K NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 isoform 1 208 Potential. cilium assembly cilium axoneme|flagellar axoneme ovary(1)|skin(1) 2 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) AAAAAAACAAATTAATTAATG 0.279 45 18 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228884227 228884227 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:228884227G>T uc002vpq.2 - 7 1390 c.1343C>A c.(1342-1344)CCC>CAC p.P448H SPHKAP_uc002vpp.2_Missense_Mutation_p.P448H|SPHKAP_uc010zlx.1_Missense_Mutation_p.P448H NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 448 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) GACGATTTTGGGGAGCTCATT 0.512 75 51 --- --- --- --- PASS EDEM1 9695 broad.mit.edu 37 3 5243501 5243501 + Silent SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:5243501C>T uc003bqi.2 + 4 882 c.750C>T c.(748-750)GAC>GAT p.D250D EDEM1_uc011asz.1_Silent_p.D28D|EDEM1_uc003bqh.2_Silent_p.D250D NM_014674 NP_055489 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 250 Lumenal (Potential). ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding ovary(2)|breast(1) 3 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) CCTTTGGTGACATGACAATTA 0.453 160 199 --- --- --- --- PASS ATP2B2 491 broad.mit.edu 37 3 10442733 10442733 + Missense_Mutation SNP T A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:10442733T>A uc003bvt.2 - 5 1124 c.685A>T c.(685-687)ATC>TTC p.I229F ATP2B2_uc003bvv.2_Missense_Mutation_p.I229F|ATP2B2_uc003bvw.2_Missense_Mutation_p.I229F|ATP2B2_uc010hdp.2_Missense_Mutation_p.I229F|ATP2B2_uc010hdo.2_5'UTR NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 229 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 TTGCCCTGGATGAAGAGGCCG 0.577 65 76 --- --- --- --- PASS PLCL2 23228 broad.mit.edu 37 3 17051265 17051265 + Missense_Mutation SNP A G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:17051265A>G uc011awc.1 + 5 508 c.403A>G c.(403-405)ATG>GTG p.M135V PLCL2_uc010het.1_Missense_Mutation_p.M17V|PLCL2_uc011awd.1_Missense_Mutation_p.M17V NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 isoform 1 143 PH. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(2)|ovary(1)|lung(1) 4 TATTAATTCAATGGTTGAGGG 0.433 66 84 --- --- --- --- PASS STAC 6769 broad.mit.edu 37 3 36587757 36587757 + Silent SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:36587757C>A uc003cgh.1 + 11 1224 c.1185C>A c.(1183-1185)CCC>CCA p.P395P STAC_uc011aya.1_Silent_p.P334P NM_003149 NP_003140 Q99469 STAC_HUMAN SH3 and cysteine rich domain 395 intracellular signal transduction cytoplasm|soluble fraction metal ion binding skin(2)|ovary(1)|pancreas(1) 4 GCCTCATCCCCCTTGATGTAC 0.473 59 38 --- --- --- --- PASS GOLGA4 2803 broad.mit.edu 37 3 37388761 37388761 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:37388761G>C uc003cgv.2 + 21 6854 c.6550G>C c.(6550-6552)GAG>CAG p.E2184Q GOLGA4_uc003cgw.2_Missense_Mutation_p.E2199Q|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.E2065Q NM_002078 NP_002069 Q13439 GOGA4_HUMAN golgi autoantigen, golgin subfamily a, 4 2184 GRIP.|Potential. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 AGTGCTTTTTGAGTATATGAT 0.353 5 155 --- --- --- --- PASS SCN5A 6331 broad.mit.edu 37 3 38647446 38647446 + Missense_Mutation SNP T G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:38647446T>G uc003cio.2 - 10 1528 c.1334A>C c.(1333-1335)CAC>CCC p.H445P SCN5A_uc003cin.2_Missense_Mutation_p.H445P|SCN5A_uc003cil.3_Missense_Mutation_p.H445P|SCN5A_uc010hhi.2_Missense_Mutation_p.H445P|SCN5A_uc010hhk.2_Missense_Mutation_p.H445P|SCN5A_uc011ayr.1_Missense_Mutation_p.H445P|SCN5A_uc010hhj.1_Missense_Mutation_p.H56P NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 445 H -> D (found in patients with atrial fibrillation). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) ACCCACCTCGTGTTCTTTCTT 0.557 52 13 --- --- --- --- PASS SCN10A 6336 broad.mit.edu 37 3 38739751 38739751 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:38739751G>C uc003ciq.2 - 27 4960 c.4960C>G c.(4960-4962)CTC>GTC p.L1654V NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1654 IV. sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) ATCTGGAAGAGGCACAGCATG 0.582 114 46 --- --- --- --- PASS ZNF445 353274 broad.mit.edu 37 3 44496716 44496716 + Missense_Mutation SNP C G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:44496716C>G uc003cnf.2 - 3 674 c.326G>C c.(325-327)GGG>GCG p.G109A ZNF445_uc011azv.1_Missense_Mutation_p.G109A|ZNF445_uc011azw.1_Missense_Mutation_p.G109A NM_181489 NP_852466 P59923 ZN445_HUMAN zinc finger protein 445 109 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) CCGGAGCTCCCCAGGCAGGAT 0.612 52 21 --- --- --- --- PASS EPHA6 285220 broad.mit.edu 37 3 96706267 96706267 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:96706267C>T uc010how.1 + 3 587 c.544C>T c.(544-546)CGT>TGT p.R182C EPHA6_uc003drp.1_Missense_Mutation_p.R182C NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 87 Ephrin-binding.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 CAACTGGCTTCGTACAAACTG 0.428 386 135 --- --- --- --- PASS TBC1D23 55773 broad.mit.edu 37 3 100029275 100029275 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:100029275G>C uc003dtt.2 + 14 1619 c.1442G>C c.(1441-1443)AGA>ACA p.R481T TBC1D23_uc003dts.2_Missense_Mutation_p.R481T NM_018309 NP_060779 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 481 intracellular Rab GTPase activator activity ovary(1)|liver(1) 2 TCAAGTGATAGAGGAATGAAA 0.333 55 244 --- --- --- --- PASS ZNF80 7634 broad.mit.edu 37 3 113955287 113955287 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:113955287G>A uc010hqo.2 - 1 1139 c.635C>T c.(634-636)ACT>ATT p.T212I ZNF80_uc003ebf.2_RNA NM_007136 NP_009067 P51504 ZNF80_HUMAN zinc finger protein 80 212 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(201;0.0233)|all_neural(597;0.0837) CTTTCCTGCAGTGTGGGTCAT 0.483 260 53 --- --- --- --- PASS GAP43 2596 broad.mit.edu 37 3 115395334 115395334 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:115395334G>T uc003ebq.2 + 2 891 c.505G>T c.(505-507)GAT>TAT p.D169Y GAP43_uc003ebr.2_Missense_Mutation_p.D205Y NM_002045 NP_002036 P17677 NEUM_HUMAN growth associated protein 43 isoform 2 169 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.164) TAAACAAGCCGATGTGCctgc 0.423 17 7 --- --- --- --- PASS IGSF11 152404 broad.mit.edu 37 3 118623603 118623603 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:118623603G>T uc003ebw.2 - 6 993 c.746C>A c.(745-747)ACT>AAT p.T249N IGSF11_uc011biv.1_Intron|IGSF11_uc003ebx.2_Missense_Mutation_p.T225N|IGSF11_uc003eby.2_Missense_Mutation_p.T248N|IGSF11_uc003ebz.2_Missense_Mutation_p.T224N|IGSF11_uc010hqs.2_Missense_Mutation_p.T248N NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 isoform b 249 Helical; (Potential). cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity 0 AACTGCACCAGTGCCAATGGC 0.348 367 95 --- --- --- --- PASS POLQ 10721 broad.mit.edu 37 3 121190857 121190857 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:121190857G>A uc003eee.3 - 22 6827 c.6698C>T c.(6697-6699)TCA>TTA p.S2233L POLQ_uc003eed.2_Missense_Mutation_p.S1405L NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 2233 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) GTGCGACTGTGATACAGGATA 0.358 DNA_polymerases_(catalytic_subunits) 89 115 --- --- --- --- PASS POLQ 10721 broad.mit.edu 37 3 121217337 121217337 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:121217337C>A uc003eee.3 - 13 2269 c.2140G>T c.(2140-2142)GCC>TCC p.A714S NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 714 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) TTATGGATGGCCATTTGTCGA 0.373 DNA_polymerases_(catalytic_subunits) 165 57 --- --- --- --- PASS POLQ 10721 broad.mit.edu 37 3 121217338 121217338 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:121217338C>T uc003eee.3 - 13 2268 c.2139G>A c.(2137-2139)ATG>ATA p.M713I NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 713 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) TATGGATGGCCATTTGTCGAT 0.373 DNA_polymerases_(catalytic_subunits) 167 57 --- --- --- --- PASS DTX3L 151636 broad.mit.edu 37 3 122284753 122284753 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:122284753G>A uc003efk.2 + 2 324 c.235G>A c.(235-237)GAA>AAA p.E79K DTX3L_uc010hrj.2_Missense_Mutation_p.E79K|PARP9_uc003eff.3_5'Flank|PARP9_uc010hri.2_5'Flank|PARP9_uc011bjs.1_5'Flank|PARP9_uc003efg.2_5'Flank|PARP9_uc003efi.2_5'Flank|PARP9_uc003efh.2_5'Flank|PARP9_uc003efj.2_5'Flank NM_138287 NP_612144 Q8TDB6 DTX3L_HUMAN deltex 3-like 79 histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1) 4 GBM - Glioblastoma multiforme(114;0.0459) ACTTGTTGACGAAAAACCTGT 0.393 122 72 --- --- --- --- PASS PODXL2 50512 broad.mit.edu 37 3 127379755 127379755 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:127379755G>T uc003ejq.2 + 3 908 c.884G>T c.(883-885)GGT>GTT p.G295V NM_015720 NP_056535 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 precursor 295 Extracellular (Potential). leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding ovary(1)|central_nervous_system(1) 2 GGAGCAGCTGGTTTGTCTGGC 0.622 64 9 --- --- --- --- PASS ZIC4 84107 broad.mit.edu 37 3 147113820 147113820 + Silent SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:147113820G>T uc003ewd.1 - 3 780 c.507C>A c.(505-507)GCC>GCA p.A169A ZIC4_uc003ewc.1_Silent_p.A99A|ZIC4_uc011bno.1_Silent_p.A219A NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 169 nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 AAATGTGGTTGGCCTGTTCCG 0.602 202 193 --- --- --- --- PASS ZIC1 7545 broad.mit.edu 37 3 147128490 147128490 + Nonsense_Mutation SNP C G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:147128490C>G uc003ewe.2 + 1 1310 c.591C>G c.(589-591)TAC>TAG p.Y197* NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 197 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 TGCACGGCTACGGGCCCATGA 0.657 21 105 --- --- --- --- PASS P2RY13 53829 broad.mit.edu 37 3 151046740 151046740 + Missense_Mutation SNP C G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:151046740C>G uc003eyv.2 - 2 125 c.104G>C c.(103-105)CGG>CCG p.R35P MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron NM_176894 NP_795713 Q9BPV8 P2Y13_HUMAN purinergic receptor P2Y, G-protein coupled, 13 35 Extracellular (Potential). integral to membrane|plasma membrane ovary(3)|lung(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278) TCTGGGGCACCGCTCAGATCT 0.468 78 607 --- --- --- --- PASS IGSF10 285313 broad.mit.edu 37 3 151161095 151161095 + Silent SNP A G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:151161095A>G uc011bod.1 - 5 5640 c.5640T>C c.(5638-5640)GAT>GAC p.D1880D IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 1880 Ig-like C2-type 5. cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CTTCAGTGCCATCAGAGAGGA 0.438 45 286 --- --- --- --- PASS PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G A A rs104886003 TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). 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.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) 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) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 68 217 --- --- --- --- PASS YEATS2 55689 broad.mit.edu 37 3 183433028 183433028 + Silent SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:183433028G>A uc003fly.2 + 2 273 c.78G>A c.(76-78)CGG>CGA p.R26R NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 26 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding ovary(3)|large_intestine(1) 4 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CAAATAAGCGGCATAAAGCAA 0.398 6 402 --- --- --- --- PASS HTR3E 285242 broad.mit.edu 37 3 183823570 183823570 + Silent SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:183823570G>A uc010hxq.2 + 7 1204 c.738G>A c.(736-738)AGG>AGA p.R246R HTR3E_uc003fml.3_Silent_p.R231R|HTR3E_uc003fmm.2_Silent_p.R261R|HTR3E_uc010hxr.2_Silent_p.R272R|HTR3E_uc003fmn.2_Silent_p.R246R NM_182589 NP_872395 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine receptor 3 subunit E 246 Extracellular (Potential). integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) TCAGGCGCAGGCCCAGTCTCT 0.532 84 124 --- --- --- --- PASS LPP 4026 broad.mit.edu 37 3 188584086 188584086 + Silent SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:188584086G>C uc003frs.1 + 9 1755 c.1509G>C c.(1507-1509)GTG>GTC p.V503V LPP_uc011bsg.1_Silent_p.V356V|LPP_uc011bsi.1_Silent_p.V503V|LPP_uc011bsj.1_Silent_p.V340V NM_005578 NP_005569 Q93052 LPP_HUMAN LIM domain containing preferred translocation 503 LIM zinc-binding 2. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1) 165 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) TCACCTGCGTGATGTGCCACC 0.552 T HMGA2|MLL|C12orf9 lipoma|leukemia 41 245 --- --- --- --- PASS CLDN16 10686 broad.mit.edu 37 3 190122607 190122607 + Nonsense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:190122607G>T uc003fsi.2 + 3 552 c.484G>T c.(484-486)GGA>TGA p.G162* CLDN16_uc010hze.2_Intron NM_006580 NP_006571 Q9Y5I7 CLD16_HUMAN claudin 16 162 Helical; (Potential). calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity ovary(1) 1 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) AGCTGGGTTTGGATTTCTCAC 0.483 157 249 --- --- --- --- PASS DLG1 1739 broad.mit.edu 37 3 196921445 196921445 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr3:196921445C>T uc003fxo.3 - 5 524 c.334G>A c.(334-336)GAT>AAT p.D112N DLG1_uc011bud.1_5'UTR|DLG1_uc003fxn.3_Missense_Mutation_p.D112N|DLG1_uc011bue.1_Missense_Mutation_p.D112N|DLG1_uc010ial.2_Missense_Mutation_p.D112N|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Missense_Mutation_p.D112N NM_001098424 NP_001091894 Q12959 DLG1_HUMAN discs, large homolog 1 isoform 1 112 actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding ovary(3) 3 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) GTATCTTCATCCTGATACCTG 0.358 101 128 --- --- --- --- PASS GPR78 27201 broad.mit.edu 37 4 8582963 8582963 + Missense_Mutation SNP T A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr4:8582963T>A uc003glk.2 + 1 673 c.254T>A c.(253-255)CTG>CAG p.L85Q CPZ_uc003gll.2_RNA NM_080819 NP_543009 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 85 Helical; Name=3; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|ovary(2) 6 ATTGGCTTCCTGGACACCTTC 0.706 7 3 --- --- --- --- PASS PACRGL 133015 broad.mit.edu 37 4 20706339 20706339 + Nonsense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr4:20706339C>T uc010iek.2 + 3 500 c.109C>T c.(109-111)CAG>TAG p.Q37* PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Nonsense_Mutation_p.Q85*|PACRGL_uc003gpz.2_Nonsense_Mutation_p.Q37*|PACRGL_uc011bxm.1_Nonsense_Mutation_p.Q37*|PACRGL_uc003gqa.2_Nonsense_Mutation_p.Q37*|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Nonsense_Mutation_p.Q37*|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_RNA|PACRGL_uc011bxn.1_Nonsense_Mutation_p.Q37*|PACRGL_uc003gpy.2_Nonsense_Mutation_p.Q37* NM_145048 NP_659485 Q8N7B6 PACRL_HUMAN PARK2 co-regulated-like isoform 1 37 binding 0 GAATGCAGTTCAGGGAAGCAA 0.388 46 87 --- --- --- --- PASS PPARGC1A 10891 broad.mit.edu 37 4 23816007 23816007 + Nonsense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr4:23816007C>A uc003gqs.2 - 8 1219 c.1099G>T c.(1099-1101)GGA>TGA p.G367* PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor 367 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding ovary(2)|lung(2)|kidney(2)|skin(2) 8 Breast(46;0.0503) TCCTCGTGTCCACCAGTGAGG 0.478 134 36 --- --- --- --- PASS C4orf19 55286 broad.mit.edu 37 4 37592264 37592264 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr4:37592264G>A uc003gsw.3 + 4 770 c.587G>A c.(586-588)GGA>GAA p.G196E C4orf19_uc003gsy.3_Missense_Mutation_p.G196E NM_001104629 NP_001098099 Q8IY42 CD019_HUMAN hypothetical protein LOC55286 196 0 GGCCCAGCTGGAGACAACGTT 0.493 32 81 --- --- --- --- PASS TBC1D1 23216 broad.mit.edu 37 4 38117547 38117547 + Missense_Mutation SNP A T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr4:38117547A>T uc003gtb.2 + 16 3117 c.2774A>T c.(2773-2775)CAG>CTG p.Q925L TBC1D1_uc011byd.1_Missense_Mutation_p.Q1019L|TBC1D1_uc010ifd.2_Missense_Mutation_p.Q712L NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, 925 Rab-GAP TBC. nucleus Rab GTPase activator activity ovary(1) 1 CTGCGGAAACAGTATCGGCCA 0.408 42 110 --- --- --- --- PASS FAM114A1 92689 broad.mit.edu 37 4 38907442 38907442 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr4:38907442G>T uc003gtn.2 + 6 793 c.617G>T c.(616-618)CGG>CTG p.R206L FAM114A1_uc011byh.1_5'UTR NM_138389 NP_612398 Q8IWE2 NXP20_HUMAN hypothetical protein LOC92689 206 cytoplasm ovary(1) 1 TCAGCCTCTCGGGGTATGCTG 0.488 55 60 --- --- --- --- PASS KLB 152831 broad.mit.edu 37 4 39409024 39409024 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr4:39409024C>T uc003gua.2 + 1 552 c.455C>T c.(454-456)TCA>TTA p.S152L KLB_uc011byj.1_Missense_Mutation_p.S152L NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN klotho beta 152 Extracellular (Potential).|Glycosyl hydrolase-1 1. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds skin(1) 1 TATCAATTTTCAATTTCCTGG 0.403 79 268 --- --- --- --- PASS ATP10D 57205 broad.mit.edu 37 4 47538480 47538480 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr4:47538480G>A uc003gxk.1 + 8 1206 c.1042G>A c.(1042-1044)GAA>AAA p.E348K ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.E348K NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 348 Extracellular (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 GAGCAGGTATGAAAAGATGCA 0.353 125 350 --- --- --- --- PASS MUC7 4589 broad.mit.edu 37 4 71346520 71346520 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr4:71346520G>T uc011cat.1 + 4 347 c.59G>T c.(58-60)AGT>ATT p.S20I MUC7_uc011cau.1_Missense_Mutation_p.S20I|MUC7_uc003hfj.2_Missense_Mutation_p.S20I NM_001145006 NP_001138478 Q8TAX7 MUC7_HUMAN mucin 7, secreted precursor 20 extracellular region protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 Lung(101;0.211) ctgcagTTCAGTGAAGGTCGA 0.229 62 151 --- --- --- --- PASS DCK 1633 broad.mit.edu 37 4 71895091 71895091 + Missense_Mutation SNP T G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr4:71895091T>G uc003hfx.2 + 7 1067 c.779T>G c.(778-780)TTG>TGG p.L260W DCK_uc011cbb.1_Missense_Mutation_p.L188W NM_000788 NP_000779 P27707 DCK_HUMAN deoxycytidine kinase 260 purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process cytosol|nucleus ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity ovary(1) 1 Lung(101;0.235) Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943) TTGAGTACTTTGTGATCTTGC 0.323 33 109 --- --- --- --- PASS PRKG2 5593 broad.mit.edu 37 4 82096031 82096031 + Nonsense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr4:82096031C>A uc003hmh.2 - 2 558 c.544G>T c.(544-546)GAA>TAA p.E182* PRKG2_uc011cch.1_Nonsense_Mutation_p.E182* NM_006259 NP_006250 Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 182 cGMP 1. 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 TACATGCATTCCACCATGTCT 0.403 91 246 --- --- --- --- PASS FAM190A 401145 broad.mit.edu 37 4 91389426 91389426 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr4:91389426G>C uc003hsv.3 + 5 1985 c.1645G>C c.(1645-1647)GCA>CCA p.A549P FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.A549P NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN KIAA1680 protein isoform 1 549 large_intestine(1)|ovary(1) 2 CTCATGTGCCGCAGTAGTTCT 0.373 17 44 --- --- --- --- PASS MAP9 79884 broad.mit.edu 37 4 156294374 156294374 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr4:156294374G>T uc003ios.2 - 4 659 c.395C>A c.(394-396)TCT>TAT p.S132Y MAP9_uc011cin.1_Missense_Mutation_p.S132Y|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.S132Y|MAP9_uc010iqb.1_Missense_Mutation_p.S60Y NM_001039580 NP_001034669 Q49MG5 MAP9_HUMAN aster-associated protein 132 cell division|mitosis cytoplasm|microtubule|spindle ovary(1)|central_nervous_system(1) 2 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) CTTATTTTGAGATTCAGAGAA 0.343 4 214 --- --- --- --- PASS GLRA3 8001 broad.mit.edu 37 4 175565062 175565062 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr4:175565062G>C uc003ity.1 - 10 1773 c.1270C>G c.(1270-1272)CGG>GGG p.R424G GLRA3_uc003itz.1_Missense_Mutation_p.R409G NM_006529 NP_006520 O75311 GLRA3_HUMAN glycine receptor, alpha 3 isoform a 424 Cytoplasmic (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(3) 3 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) TTCTTGGCCCGGTCGATAAAG 0.428 125 37 --- --- --- --- PASS ASB5 140458 broad.mit.edu 37 4 177138037 177138037 + Missense_Mutation SNP T A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr4:177138037T>A uc003iuq.1 - 6 810 c.794A>T c.(793-795)GAG>GTG p.E265V ASB5_uc003iup.1_Missense_Mutation_p.E212V NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box-containing protein 265 intracellular signal transduction skin(2) 2 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;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) TCGCAGAAGCTCTGTATTTTT 0.378 159 49 --- --- --- --- PASS CCDC111 201973 broad.mit.edu 37 4 185578371 185578371 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr4:185578371C>T uc003iwk.2 + 3 510 c.77C>T c.(76-78)TCA>TTA p.S26L CCDC111_uc010isd.1_RNA|CCDC111_uc003iwj.2_Missense_Mutation_p.S26L|CCDC111_uc003iwl.2_Missense_Mutation_p.S26L|CCDC111_uc003iwm.2_Intron|CCDC111_uc003iwn.2_5'UTR NM_152683 NP_689896 Q96LW4 CC111_HUMAN coiled-coil domain containing 111 26 DNA replication, synthesis of RNA primer DNA primase activity central_nervous_system(1) 1 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131) all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173) CCGTTGTCCTCAGTGTATAGA 0.393 93 31 --- --- --- --- PASS FAM149A 25854 broad.mit.edu 37 4 187074888 187074888 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr4:187074888C>A uc003iyt.3 + 5 755 c.176C>A c.(175-177)CCG>CAG p.P59Q FAM149A_uc011cla.1_Missense_Mutation_p.P59Q|FAM149A_uc010isj.2_Missense_Mutation_p.P59Q|FAM149A_uc010isk.2_RNA|FAM149A_uc003iyu.3_Missense_Mutation_p.P59Q|FAM149A_uc010isl.2_Missense_Mutation_p.P59Q|FAM149A_uc011clb.1_Missense_Mutation_p.P59Q NM_015398 NP_056213 A5PLN7 F149A_HUMAN hypothetical protein LOC25854 350 breast(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166) CACAGACCCCCGCTCAGTGCC 0.493 136 61 --- --- --- --- PASS PLEKHG4B 153478 broad.mit.edu 37 5 171336 171336 + Missense_Mutation SNP A G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr5:171336A>G uc003jak.2 + 14 2809 c.2759A>G c.(2758-2760)CAG>CGG p.Q920R NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 920 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CAGGACAAGCAGCGGGAGCTA 0.677 14 31 --- --- --- --- PASS FASTKD3 79072 broad.mit.edu 37 5 7867395 7867395 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr5:7867395C>T uc003jeb.2 - 2 939 c.802G>A c.(802-804)GAA>AAA p.E268K FASTKD3_uc011cmp.1_5'UTR|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank NM_024091 NP_076996 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 268 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|breast(1)|pancreas(1) 4 TCCACTTTTTCAGTACATGCC 0.353 44 306 --- --- --- --- PASS DNAJC21 134218 broad.mit.edu 37 5 34941281 34941281 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr5:34941281G>C uc003jjc.2 + 7 1203 c.976G>C c.(976-978)GAA>CAA p.E326Q DNAJC21_uc003jjb.2_Missense_Mutation_p.E326Q|DNAJC21_uc010iuu.1_Missense_Mutation_p.E210Q NM_001012339 NP_001012339 Q5F1R6 DJC21_HUMAN DnaJ homology subfamily A member 5 isoform 2 326 Glu-rich.|C2H2-type 1. protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding breast(1)|skin(1) 2 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GTTCAAGACAGAAAAGGCGTA 0.274 69 131 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41010115 41010115 + Nonsense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr5:41010115G>A uc003jmj.3 - 31 3692 c.3202C>T c.(3202-3204)CAG>TAG p.Q1068* HEATR7B2_uc003jmi.3_Nonsense_Mutation_p.Q623* NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1068 binding ovary(6)|central_nervous_system(2) 8 AGAATGAACTGAAAACTTTCT 0.403 25 189 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41061737 41061737 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr5:41061737C>T uc003jmj.3 - 6 1040 c.550G>A c.(550-552)GAC>AAC p.D184N NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 184 binding ovary(6)|central_nervous_system(2) 8 AAGATCTTGTCAGACAGTCGG 0.488 176 218 --- --- --- --- PASS ADAMTS6 11174 broad.mit.edu 37 5 64468801 64468801 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr5:64468801C>T uc003jtp.2 - 23 3759 c.2945G>A c.(2944-2946)CGG>CAG p.R982Q ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 982 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) CAGAACAATCCGATGCTTGAA 0.438 95 44 --- --- --- --- PASS BHMT 635 broad.mit.edu 37 5 78423587 78423587 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr5:78423587C>T uc003kfu.3 + 7 923 c.818C>T c.(817-819)CCC>CTC p.P273L BHMT_uc011cti.1_Missense_Mutation_p.P120L NM_001713 NP_001704 Q93088 BHMT1_HUMAN betaine-homocysteine methyltransferase 273 Hcy-binding. protein methylation|regulation of homocysteine metabolic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding ovary(1) 1 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36) L-Methionine(DB00134) GGACTGGAACCCAGAGTTGCC 0.418 50 14 --- --- --- --- PASS RASGRF2 5924 broad.mit.edu 37 5 80381625 80381625 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr5:80381625C>A uc003kha.1 + 8 1166 c.1166C>A c.(1165-1167)CCC>CAC p.P389H RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Missense_Mutation_p.P217H NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 389 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) ATCTAGATCCCCAGATATATC 0.498 74 34 --- --- --- --- PASS DMXL1 1657 broad.mit.edu 37 5 118485540 118485540 + Silent SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr5:118485540C>A uc003ksd.2 + 18 4199 c.4018C>A c.(4018-4020)CGG>AGG p.R1340R DMXL1_uc010jcl.1_Silent_p.R1340R NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 1340 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TGGTAAAGTTCGGAGAGCCAA 0.473 4 116 --- --- --- --- PASS ZNF608 57507 broad.mit.edu 37 5 123983395 123983395 + Silent SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr5:123983395G>A uc003ktq.1 - 4 2805 c.2682C>T c.(2680-2682)CCC>CCT p.P894P ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Silent_p.P894P|ZNF608_uc003ktt.1_Silent_p.P894P NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN zinc finger protein 608 894 intracellular zinc ion binding skin(3)|ovary(2)|lung(1) 6 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) TGGAAGGGCTGGGAGCGTTGT 0.567 73 28 --- --- --- --- PASS NRG2 9542 broad.mit.edu 37 5 139231387 139231387 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr5:139231387C>A uc003lex.1 - 9 1799 c.1574G>T c.(1573-1575)CGT>CTT p.R525L NRG2_uc003lev.1_Missense_Mutation_p.R533L|NRG2_uc003lew.1_Missense_Mutation_p.R527L|NRG2_uc003ley.1_Missense_Mutation_p.R519L NM_004883 NP_004874 O14511 NRG2_HUMAN neuregulin 2 isoform 1 525 Cytoplasmic (Potential). embryo development extracellular region|integral to membrane|plasma membrane growth factor activity pancreas(2)|breast(2)|ovary(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTCTCAGAACGTTCCAGGCT 0.622 36 6 --- --- --- --- PASS PCDHB5 26167 broad.mit.edu 37 5 140516585 140516585 + Silent SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr5:140516585G>A uc003liq.2 + 1 1786 c.1569G>A c.(1567-1569)CTG>CTA p.L523L NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 523 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACGAGGCCCTGCAGGCGTTCG 0.692 52 20 --- --- --- --- PASS PCDHB6 56130 broad.mit.edu 37 5 140530216 140530216 + Missense_Mutation SNP T A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr5:140530216T>A uc003lir.2 + 1 378 c.378T>A c.(376-378)AAT>AAA p.N126K PCDHB6_uc011dah.1_5'UTR NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 126 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGATATAAATGACCACGCCC 0.453 42 142 --- --- --- --- PASS PCDHGA12 26025 broad.mit.edu 37 5 140811280 140811280 + Missense_Mutation SNP A T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr5:140811280A>T uc003lkt.1 + 1 1123 c.954A>T c.(952-954)GAA>GAT p.E318D PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.E318D NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 318 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCAGATGGAAGTGCAAGCAA 0.488 150 46 --- --- --- --- PASS MIR1294 100302181 broad.mit.edu 37 5 153726779 153726779 + RNA SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr5:153726779G>A hsa-mir-1294|MI0006356 + c.114G>A GALNT10_uc003lvg.1_Intron|GALNT10_uc003lvh.2_Intron|GALNT10_uc010jic.2_Intron|GALNT10_uc010jid.2_Intron 0 aggactcagtgaggtgaaact 0.015 27 70 --- --- --- --- PASS FARS2 10667 broad.mit.edu 37 6 5613522 5613522 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:5613522G>T uc010jnv.1 + 6 1522 c.1186G>T c.(1186-1188)GTT>TTT p.V396F FARS2_uc003mwr.2_Missense_Mutation_p.V396F NM_006567 NP_006558 O95363 SYFM_HUMAN phenylalanyl-tRNA synthetase 2 precursor 396 FDX-ACB. phenylalanyl-tRNA aminoacylation|tRNA processing mitochondrial matrix|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding 0 Ovarian(93;0.11) all_hematologic(90;0.0104) L-Phenylalanine(DB00120) GGTGGAAAAGGTTGATCTCAT 0.378 105 134 --- --- --- --- PASS LY86 9450 broad.mit.edu 37 6 6654803 6654803 + Silent SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:6654803G>A uc003mwy.1 + 5 466 c.432G>A c.(430-432)CTG>CTA p.L144L LY86_uc003mwz.1_RNA NM_004271 NP_004262 O95711 LY86_HUMAN MD-1, RP105-associated precursor 144 apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response extracellular space|plasma membrane 0 Ovarian(93;0.0377) TGCTGGAACTGTACACTGAAA 0.453 28 61 --- --- --- --- PASS RREB1 6239 broad.mit.edu 37 6 7231394 7231394 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:7231394C>T uc003mxc.2 + 10 3452 c.3062C>T c.(3061-3063)TCA>TTA p.S1021L RREB1_uc003mxb.2_Missense_Mutation_p.S1021L|RREB1_uc010jnx.2_Missense_Mutation_p.S1021L NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 1021 Pro-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) ATCTACTCCTCAGCCCTGGTC 0.687 23 60 --- --- --- --- PASS CDKAL1 54901 broad.mit.edu 37 6 20548873 20548873 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:20548873C>T uc003ndc.1 + 4 397 c.223C>T c.(223-225)CAT>TAT p.H75Y CDKAL1_uc003ndd.1_Missense_Mutation_p.H75Y|CDKAL1_uc003nde.1_Intron|CDKAL1_uc010jpo.1_Missense_Mutation_p.H75Y|CDKAL1_uc003ndb.1_Missense_Mutation_p.H75Y NM_017774 NP_060244 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 75 MTTase N-terminal. RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity ovary(2) 2 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) GGGTTGTTCTCATAATAATTC 0.289 37 159 --- --- --- --- PASS CDKAL1 54901 broad.mit.edu 37 6 20758859 20758859 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:20758859G>A uc003ndc.1 + 7 676 c.502G>A c.(502-504)GAG>AAG p.E168K CDKAL1_uc003ndd.1_Missense_Mutation_p.E168K|CDKAL1_uc003nde.1_Missense_Mutation_p.E98K NM_017774 NP_060244 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 168 MTTase N-terminal. RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity ovary(2) 2 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) AGAAGTTGTGGAGGAGACAAT 0.343 48 78 --- --- --- --- PASS SLC17A4 10050 broad.mit.edu 37 6 25771236 25771236 + Silent SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:25771236C>A uc003nfe.2 + 6 821 c.702C>A c.(700-702)ATC>ATA p.I234I SLC17A4_uc011djx.1_Intron|SLC17A4_uc003nff.1_Intron|SLC17A4_uc003nfg.2_Silent_p.I171I|SLC17A4_uc010jqa.2_5'Flank NM_005495 NP_005486 Q9Y2C5 S17A4_HUMAN solute carrier family 17 (sodium phosphate), 234 Helical; (Potential). phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity skin(1) 1 TCTTCTATATCTTTGGTGAGT 0.413 132 206 --- --- --- --- PASS HIST1H4E 8367 broad.mit.edu 37 6 26205150 26205150 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:26205150G>C uc003ngy.2 + 1 278 c.278G>C c.(277-279)AGA>ACA p.R93T NM_003545 NP_003536 P62805 H4_HUMAN histone cluster 1, H4e 93 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 all_hematologic(11;0.196) GCGCTGAAGAGACAGGGACGC 0.537 40 47 --- --- --- --- PASS SCAND3 114821 broad.mit.edu 37 6 28543072 28543072 + Silent SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:28543072C>T uc003nlo.2 - 3 2028 c.1410G>A c.(1408-1410)CAG>CAA p.Q470Q NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 470 Integrase catalytic. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 CTGCAGAACTCTGGCTTTGGC 0.423 105 128 --- --- --- --- PASS CCHCR1 54535 broad.mit.edu 37 6 31112995 31112995 + Silent SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:31112995C>T uc003nsr.3 - 13 1680 c.1557G>A c.(1555-1557)CTG>CTA p.L519L CCHCR1_uc011dne.1_Silent_p.L519L|CCHCR1_uc003nsq.3_Silent_p.L572L|CCHCR1_uc003nsp.3_Silent_p.L608L|CCHCR1_uc010jsk.1_Silent_p.L519L NM_019052 NP_061925 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 isoform 519 Potential. cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding skin(1) 1 CACTCAGCTGCAGTTCTGCAT 0.632 50 49 --- --- --- --- PASS MDGA1 266727 broad.mit.edu 37 6 37622620 37622620 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:37622620C>T uc003onu.1 - 5 1847 c.668G>A c.(667-669)GGC>GAC p.G223D MDGA1_uc003onw.3_5'Flank NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN MAM domain containing 223 Ig-like 2. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2) 2 GTCTGGGATGCCGCACACGTT 0.597 5 322 --- --- --- --- PASS ABCC10 89845 broad.mit.edu 37 6 43403605 43403605 + Silent SNP C G G rs148989774 byFrequency TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:43403605C>G uc003ouy.1 + 5 1940 c.1725C>G c.(1723-1725)CTC>CTG p.L575L ABCC10_uc003ouz.1_Silent_p.L532L|ABCC10_uc010jyo.1_5'UTR NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 575 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) AGCTTTTCCTCGACCTTCCAA 0.557 58 132 --- --- --- --- PASS ABCC10 89845 broad.mit.edu 37 6 43403612 43403612 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:43403612C>T uc003ouy.1 + 5 1947 c.1732C>T c.(1732-1734)CCA>TCA p.P578S ABCC10_uc003ouz.1_Missense_Mutation_p.P535S|ABCC10_uc010jyo.1_5'UTR NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 578 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CCTCGACCTTCCAAACCACAA 0.562 59 140 --- --- --- --- PASS XPO5 57510 broad.mit.edu 37 6 43538265 43538265 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:43538265C>T uc003ovp.2 - 5 806 c.595G>A c.(595-597)GAA>AAA p.E199K NM_020750 NP_065801 Q9HAV4 XPO5_HUMAN exportin 5 199 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding skin(2)|breast(1)|kidney(1) 4 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) TTTACATTTTCTTGAAGTGTG 0.373 304 421 --- --- --- --- PASS TDRD6 221400 broad.mit.edu 37 6 46657768 46657768 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:46657768G>C uc003oyj.2 + 1 1903 c.1903G>C c.(1903-1905)GAT>CAT p.D635H TDRD6_uc010jze.2_Missense_Mutation_p.D629H NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 635 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) CCATATTCTTGATAAACAGGA 0.388 30 134 --- --- --- --- PASS C6orf138 442213 broad.mit.edu 37 6 47847084 47847084 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:47847084G>A uc011dwm.1 - 3 1530 c.1445C>T c.(1444-1446)TCG>TTG p.S482L C6orf138_uc011dwn.1_Missense_Mutation_p.S246L NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 499 integral to membrane hedgehog receptor activity central_nervous_system(1) 1 AACACTTGGCGAATCACTGGC 0.453 12 44 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51890805 51890805 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:51890805G>T uc003pah.1 - 32 4079 c.3803C>A c.(3802-3804)GCC>GAC p.A1268D PKHD1_uc003pai.2_Missense_Mutation_p.A1268D NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1268 Extracellular (Potential).|IPT/TIG 7. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) GACCTCCACGGCAGCTGGAAC 0.597 64 63 --- --- --- --- PASS RIMS1 22999 broad.mit.edu 37 6 72960793 72960793 + Nonsense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:72960793G>T uc003pga.2 + 14 2619 c.2542G>T c.(2542-2544)GAG>TAG p.E848* RIMS1_uc011dyb.1_Nonsense_Mutation_p.E474*|RIMS1_uc003pgc.2_Nonsense_Mutation_p.E474*|RIMS1_uc010kaq.2_Nonsense_Mutation_p.E322*|RIMS1_uc011dyc.1_Nonsense_Mutation_p.E322*|RIMS1_uc010kar.2_Nonsense_Mutation_p.E241*|RIMS1_uc011dyd.1_Nonsense_Mutation_p.E307*|RIMS1_uc003pgf.2_Nonsense_Mutation_p.E65*|RIMS1_uc003pgg.2_Nonsense_Mutation_p.E65*|RIMS1_uc003pgi.2_Nonsense_Mutation_p.E65*|RIMS1_uc003pgh.2_Nonsense_Mutation_p.E65*|RIMS1_uc003pgd.2_Nonsense_Mutation_p.E65*|RIMS1_uc003pge.2_Nonsense_Mutation_p.E65*|RIMS1_uc011dye.1_5'Flank|RIMS1_uc003pgb.3_Nonsense_Mutation_p.E474*|RIMS1_uc010kas.1_Nonsense_Mutation_p.E307* NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 848 C2 1. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) ATTTCTTGGAGAGGTGATGTA 0.294 11 12 --- --- --- --- PASS KCNQ5 56479 broad.mit.edu 37 6 73904271 73904271 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:73904271C>A uc003pgk.2 + 14 2280 c.1933C>A c.(1933-1935)CAG>AAG p.Q645K KCNQ5_uc011dyh.1_Missense_Mutation_p.Q664K|KCNQ5_uc011dyi.1_Missense_Mutation_p.Q655K|KCNQ5_uc010kat.2_Missense_Mutation_p.Q636K|KCNQ5_uc011dyj.1_Missense_Mutation_p.Q535K|KCNQ5_uc011dyk.1_Missense_Mutation_p.Q395K NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 645 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) GGCTTCATTCCAGATCCCACC 0.488 54 111 --- --- --- --- PASS COL12A1 1303 broad.mit.edu 37 6 75893640 75893640 + Silent SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:75893640G>A uc003phs.2 - 9 1384 c.1218C>T c.(1216-1218)GCC>GCT p.A406A COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Silent_p.A64A NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 406 Fibronectin type-III 2. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 TTCCCTTCATGGCGGAAACAC 0.493 105 309 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90442303 90442303 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:90442303G>C uc003pnn.1 - 34 5031 c.4915C>G c.(4915-4917)CTG>GTG p.L1639V NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 1639 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) ATGTACACCAGGCATGCAGCA 0.507 53 153 --- --- --- --- PASS MCHR2 84539 broad.mit.edu 37 6 100390984 100390984 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:100390984C>T uc003pqh.1 - 4 743 c.428G>A c.(427-429)CGT>CAT p.R143H MCHR2_uc003pqi.1_Missense_Mutation_p.R143H NM_001040179 NP_001035269 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 143 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 8 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) TGTTCTCCAACGTGTCAGTCG 0.478 101 115 --- --- --- --- PASS SIM1 6492 broad.mit.edu 37 6 100838429 100838429 + Silent SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:100838429C>T uc003pqj.3 - 11 2316 c.2109G>A c.(2107-2109)CGG>CGA p.R703R SIM1_uc010kcu.2_Silent_p.R703R NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 703 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CAAAATACTGCCGGTGAGAGC 0.448 4 214 --- --- --- --- PASS GPR6 2830 broad.mit.edu 37 6 110301089 110301089 + Silent SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:110301089G>A uc011eaw.1 + 2 954 c.774G>A c.(772-774)CAG>CAA p.Q258Q GPR6_uc011eav.1_Silent_p.Q273Q|GPR6_uc003ptu.2_Silent_p.Q258Q NM_005284 NP_005275 P46095 GPR6_HUMAN G protein-coupled receptor 6 258 Cytoplasmic (Potential). integral to plasma membrane 0 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) ACGCGCACCAGATCGCGCTGC 0.657 14 43 --- --- --- --- PASS RNF146 81847 broad.mit.edu 37 6 127608136 127608136 + Silent SNP A G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:127608136A>G uc003qav.2 + 3 537 c.378A>G c.(376-378)GAA>GAG p.E126E RNF146_uc003qat.2_Silent_p.E125E|RNF146_uc003qau.2_Silent_p.E125E|RNF146_uc003qaw.2_Silent_p.E125E NM_030963 NP_112225 Q9NTX7 RN146_HUMAN ring finger protein 146 126 WWE. positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding kidney(1) 1 GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2) GAGAGCTGGAAGATGCTTTTT 0.403 35 113 --- --- --- --- PASS LAMA2 3908 broad.mit.edu 37 6 129612773 129612773 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:129612773G>T uc003qbn.2 + 20 2869 c.2764G>T c.(2764-2766)GCC>TCC p.A922S LAMA2_uc003qbo.2_Missense_Mutation_p.A922S NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 922 Laminin EGF-like 9. 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) TCGCTGTAATGCCGGTGGCTC 0.448 20 73 --- --- --- --- PASS BCLAF1 9774 broad.mit.edu 37 6 136600997 136600997 + Missense_Mutation SNP C T T rs148729378 byFrequency TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:136600997C>T uc003qgx.1 - 3 261 c.8G>A c.(7-9)CGC>CAC p.R3H BCLAF1_uc003qgw.1_Missense_Mutation_p.R3H|BCLAF1_uc003qgy.1_Missense_Mutation_p.R3H|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R3H NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 3 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) AGAATTGGAGCGACCCATTTC 0.308 57 78 --- --- --- --- PASS PLG 5340 broad.mit.edu 37 6 161132158 161132158 + Silent SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:161132158G>T uc003qtm.3 + 4 405 c.342G>T c.(340-342)ACG>ACT p.T114T NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 114 Kringle 1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) ACAGAGGGACGATGTCCAAAA 0.443 49 48 --- --- --- --- PASS PHF10 55274 broad.mit.edu 37 6 170105257 170105257 + Silent SNP A G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr6:170105257A>G uc011egy.1 - 11 1462 c.1383T>C c.(1381-1383)TTT>TTC p.F461F C6orf120_uc003qxb.2_3'UTR|PHF10_uc011egz.1_Silent_p.F459F NM_018288 NP_060758 Q8WUB8 PHF10_HUMAN PHD finger protein 10 isoform a 461 PHD-type 2; degenerate. nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent npBAF complex zinc ion binding urinary_tract(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176) GGCCCACACAAAAAGTATGAT 0.403 29 116 --- --- --- --- PASS RADIL 55698 broad.mit.edu 37 7 4841590 4841590 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:4841590C>A uc003snj.1 - 12 2709 c.2536G>T c.(2536-2538)GCC>TCC p.A846S RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Missense_Mutation_p.A351S|RADIL_uc011jwc.1_Missense_Mutation_p.A606S|RADIL_uc011jwd.1_RNA|RADIL_uc003snh.1_Missense_Mutation_p.A142S NM_018059 NP_060529 Q96JH8 RADIL_HUMAN Rap GTPase interactor 846 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) CAGCTCGGGGCCTCCAGGTGC 0.687 3 3 --- --- --- --- PASS THSD7A 221981 broad.mit.edu 37 7 11416260 11416260 + Missense_Mutation SNP T C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:11416260T>C uc003ssf.3 - 26 5078 c.4826A>G c.(4825-4827)TAC>TGC p.Y1609C uc003ssb.2_Intron|THSD7A_uc003ssd.3_Missense_Mutation_p.Y113C NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1609 Helical; (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TGCTACACCGTAAACCCAGGT 0.348 HNSCC(18;0.044) 5 7 --- --- --- --- PASS SCIN 85477 broad.mit.edu 37 7 12692275 12692275 + Nonsense_Mutation SNP A T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:12692275A>T uc003ssn.3 + 16 2293 c.2083A>T c.(2083-2085)AAA>TAA p.K695* SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Nonsense_Mutation_p.K448* NM_001112706 NP_001106177 Q9Y6U3 ADSV_HUMAN scinderin isoform 1 695 Ca(2+)-dependent actin binding. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) TGTCATCATAAAACAGGGCCA 0.403 50 82 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21847576 21847576 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:21847576C>T uc003svc.2 + 64 10293 c.10262C>T c.(10261-10263)ACG>ATG p.T3421M NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3421 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GTTCTTCTCACGGCGGCATTT 0.478 Kartagener_syndrome 10 16 --- --- --- --- PASS NUPL2 11097 broad.mit.edu 37 7 23224737 23224737 + Missense_Mutation SNP T G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:23224737T>G uc003svu.2 + 2 429 c.170T>G c.(169-171)GTC>GGC p.V57G NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_Intron|NUPL2_uc011jyw.1_RNA|NUPL2_uc003svx.2_5'UTR NM_007342 NP_031368 O15504 NUPL2_HUMAN nucleoporin like 2 57 carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nuclear pore nuclear export signal receptor activity|nucleic acid binding|zinc ion binding skin(2)|ovary(1) 3 TATTCCAATGTCATCCAGCCA 0.353 40 70 --- --- --- --- PASS DFNA5 1687 broad.mit.edu 37 7 24749940 24749940 + Silent SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:24749940C>A uc010kus.1 - 6 853 c.765G>T c.(763-765)CTG>CTT p.L255L DFNA5_uc003swz.2_Silent_p.L91L|DFNA5_uc003sxa.1_Silent_p.L255L|DFNA5_uc010kut.1_Silent_p.L91L NM_001127453 NP_001120925 O60443 DFNA5_HUMAN deafness, autosomal dominant 5 protein isoform 255 sensory perception of sound ovary(1) 1 CCAGGGGGTCCAGGTAGACAG 0.473 66 87 --- --- --- --- PASS ANLN 54443 broad.mit.edu 37 7 36450708 36450708 + Missense_Mutation SNP A G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:36450708A>G uc003tff.2 + 7 1532 c.1328A>G c.(1327-1329)GAC>GGC p.D443G ANLN_uc011kaz.1_Missense_Mutation_p.D355G|ANLN_uc003tfg.2_Missense_Mutation_p.D443G|ANLN_uc010kxe.2_Missense_Mutation_p.D443G NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 443 Interaction with F-actin. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding ovary(2)|skin(1) 3 GGCCGATTTGACAAGGGCAAT 0.378 26 53 --- --- --- --- PASS INHBA 3624 broad.mit.edu 37 7 41729530 41729530 + Silent SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:41729530G>A uc003thq.2 - 2 1234 c.999C>T c.(997-999)ATC>ATT p.I333I INHBA_uc003thr.2_Silent_p.I333I NM_002192 NP_002183 P08476 INHBA_HUMAN inhibin beta A precursor 333 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity lung(5)|ovary(1) 6 CATTCCAGCCGATGTCCTTGA 0.557 TSP Lung(11;0.080) 47 84 --- --- --- --- PASS URGCP 55665 broad.mit.edu 37 7 43917524 43917524 + Missense_Mutation SNP T A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:43917524T>A uc003tiw.2 - 6 1595 c.1538A>T c.(1537-1539)CAG>CTG p.Q513L URGCP_uc003tiu.2_Missense_Mutation_p.Q470L|URGCP_uc003tiv.2_Missense_Mutation_p.Q438L|URGCP_uc003tix.2_Missense_Mutation_p.Q504L|URGCP_uc003tiy.2_Missense_Mutation_p.Q470L|URGCP_uc003tiz.2_Missense_Mutation_p.Q470L|URGCP_uc011kbj.1_Missense_Mutation_p.Q470L NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 513 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 CCACTGGAGCTGGCAGAACTC 0.612 37 61 --- --- --- --- PASS FIGNL1 63979 broad.mit.edu 37 7 50514445 50514445 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:50514445G>T uc003tpc.2 - 4 918 c.541C>A c.(541-543)CGT>AGT p.R181S FIGNL1_uc003tpb.2_Missense_Mutation_p.R70S|FIGNL1_uc003tpd.2_Missense_Mutation_p.R181S|FIGNL1_uc003tpe.2_Missense_Mutation_p.R181S|FIGNL1_uc010kyy.2_Missense_Mutation_p.R181S NM_001042762 NP_001036227 Q6PIW4 FIGL1_HUMAN fidgetin-like 1 181 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity ovary(3) 3 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) AGTTTCAAACGATTGCTCTCC 0.468 70 158 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88965897 88965897 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:88965897C>T uc011khi.1 + 4 4139 c.3601C>T c.(3601-3603)CAC>TAC p.H1201Y NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1201 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AGTTCCAGTTCACCAGCACAC 0.502 HNSCC(36;0.09) 52 211 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88966053 88966053 + Missense_Mutation SNP C G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:88966053C>G uc011khi.1 + 4 4295 c.3757C>G c.(3757-3759)CCA>GCA p.P1253A NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1253 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) GACTCTGACTCCAACCATTAT 0.468 HNSCC(36;0.09) 80 301 --- --- --- --- PASS GNGT1 2792 broad.mit.edu 37 7 93536070 93536070 + Silent SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:93536070C>T uc003unc.1 + 2 160 c.12C>T c.(10-12)ATC>ATT p.I4I GNGT1_uc003umx.1_RNA NM_021955 NP_068774 P63211 GBG1_HUMAN guanine nucleotide binding protein (G protein), 4 G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex GTPase activity|signal transducer activity 0 all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) TGCCAGTAATCAATATTGAGG 0.408 39 155 --- --- --- --- PASS GPC2 221914 broad.mit.edu 37 7 99774750 99774750 + Nonsense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:99774750C>A uc003utv.2 - 1 241 c.73G>T c.(73-75)GAG>TAG p.E25* GPC2_uc010lgr.2_RNA|GPC2_uc003utw.1_Nonsense_Mutation_p.E25*|STAG3_uc010lgs.1_5'Flank|STAG3_uc003utx.1_5'Flank|STAG3_uc011kjk.1_5'Flank NM_152742 NP_689955 Q8N158 GPC2_HUMAN glypican 2 precursor 25 anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|pancreas(1) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ACCTTTGCCTCGCTCCCGGGT 0.642 8 41 --- --- --- --- PASS PILRA 29992 broad.mit.edu 37 7 99971996 99971996 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:99971996C>T uc003uuo.1 + 2 606 c.394C>T c.(394-396)CGG>TGG p.R132W PILRA_uc011kjn.1_Missense_Mutation_p.R132W|PILRA_uc011kjo.1_Missense_Mutation_p.R132W|PILRA_uc003uup.1_Missense_Mutation_p.R132W|PILRA_uc003uuq.1_Missense_Mutation_p.R132W NM_013439 NP_038467 Q9UKJ1 PILRA_HUMAN paired immunoglobulin-like type 2 receptor alpha 132 Extracellular (Potential).|Ig-like V-type. interspecies interaction between organisms extracellular region|integral to membrane|plasma membrane protein binding|receptor activity skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCTGGACACACGGAGCTCAGG 0.602 8 267 --- --- --- --- PASS CUX1 1523 broad.mit.edu 37 7 101918593 101918593 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:101918593G>C uc003uyt.2 + 17 1545 c.1526G>C c.(1525-1527)AGG>ACG p.R509T CUX1_uc011kkn.1_Missense_Mutation_p.R470T|CUX1_uc003uyw.2_Missense_Mutation_p.R463T|CUX1_uc003uyv.2_Missense_Mutation_p.R493T|CUX1_uc003uyu.2_Missense_Mutation_p.R507T|CUX1_uc003uyz.2_RNA NM_001913 NP_001904 P39880 CUX1_HUMAN cut-like homeobox 1 isoform b Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 TCCAGCCAGAGGGAGCGCTTC 0.617 51 102 --- --- --- --- PASS GRM8 2918 broad.mit.edu 37 7 126173012 126173012 + Silent SNP T A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:126173012T>A uc003vlr.2 - 8 2735 c.2424A>T c.(2422-2424)GCA>GCT p.A808A GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.A808A|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 808 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane p.A808E(1) lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) TTACCTTTTCTGCTGACTGGG 0.368 HNSCC(24;0.065) 45 82 --- --- --- --- PASS GRM8 2918 broad.mit.edu 37 7 126173262 126173262 + Missense_Mutation SNP T C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:126173262T>C uc003vlr.2 - 8 2485 c.2174A>G c.(2173-2175)TAT>TGT p.Y725C GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.Y725C|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 725 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) CTGCTCTCCATAGTCAATGAT 0.507 HNSCC(24;0.065) 33 45 --- --- --- --- PASS CCDC136 64753 broad.mit.edu 37 7 128446913 128446913 + Splice_Site SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:128446913G>T uc003vnv.1 + 9 1786 c.1419_splice c.e9+1 p.K473_splice CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Splice_Site_p.K420_splice|CCDC136_uc003vnx.1_Splice_Site_p.K289_splice|CCDC136_uc010llq.1_Splice_Site|CCDC136_uc003vny.1_Splice_Site_p.K83_splice NM_022742 NP_073579 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 integral to membrane protein binding ovary(2) 2 CAATGAGAAGGTAAAAGAAGC 0.572 11 26 --- --- --- --- PASS CPA4 51200 broad.mit.edu 37 7 129939246 129939246 + Splice_Site SNP T C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:129939246T>C uc003vpr.2 + 3 332 c.285_splice c.e3+2 p.Q95_splice CPA4_uc011kpd.1_Splice_Site_p.Q95_splice|CPA4_uc011kpe.1_Intron NM_016352 NP_057436 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 preproprotein histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) GACCTGCAGGTAGGTAGACTA 0.512 43 64 --- --- --- --- PASS HIPK2 28996 broad.mit.edu 37 7 139299139 139299139 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:139299139G>A uc003vvf.3 - 8 2057 c.1883C>T c.(1882-1884)GCT>GTT p.A628V HIPK2_uc003vvd.3_Missense_Mutation_p.A601V NM_022740 NP_073577 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 isoform 628 Interaction with SKI and SMAD1. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding ovary(3)|central_nervous_system(3)|skin(1) 7 Melanoma(164;0.205) GGCCACTGCAGCCATGGATGC 0.597 21 20 --- --- --- --- PASS SLC37A3 84255 broad.mit.edu 37 7 140035283 140035283 + Missense_Mutation SNP T C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:140035283T>C uc003vvo.2 - 15 1580 c.1414A>G c.(1414-1416)ATC>GTC p.I472V SLC37A3_uc003vvn.2_Missense_Mutation_p.I50V|SLC37A3_uc003vvp.2_Missense_Mutation_p.Y371C|SLC37A3_uc010lnh.2_Missense_Mutation_p.I456V NM_207113 NP_996996 Q8NCC5 SPX3_HUMAN solute carrier family 37 (glycerol-3-phosphate 472 Helical; (Potential). carbohydrate transport|transmembrane transport integral to membrane ovary(3) 3 Melanoma(164;0.0142) AATGGCGAGATAAACACAATT 0.388 70 127 --- --- --- --- PASS TRPV5 56302 broad.mit.edu 37 7 142605794 142605794 + Silent SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:142605794C>T uc003wby.1 - 15 2340 c.2076G>A c.(2074-2076)GCG>GCA p.A692A NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 692 Cytoplasmic (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) TGCTCTGGGACGCGGTCCGGG 0.587 69 107 --- --- --- --- PASS OR2F2 135948 broad.mit.edu 37 7 143632691 143632691 + Silent SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:143632691C>A uc011ktv.1 + 1 366 c.366C>A c.(364-366)CGC>CGA p.R122R NM_001004685 NP_001004685 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 Melanoma(164;0.0903) CCTATGACCGCCATGTGGCTG 0.552 84 108 --- --- --- --- PASS OR2F2 135948 broad.mit.edu 37 7 143632692 143632692 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:143632692C>T uc011ktv.1 + 1 367 c.367C>T c.(367-369)CAT>TAT p.H123Y NM_001004685 NP_001004685 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, 123 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 Melanoma(164;0.0903) CTATGACCGCCATGTGGCTGT 0.557 83 106 --- --- --- --- PASS ZNF777 27153 broad.mit.edu 37 7 149130003 149130003 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:149130003C>T uc003wfv.2 - 6 1523 c.1360G>A c.(1360-1362)GAG>AAG p.E454K NM_015694 NP_056509 Q9ULD5 ZN777_HUMAN zinc finger protein 777 454 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) TCTTGTTCCTCTGTCTTGATC 0.483 5 7 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149492326 149492326 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:149492326C>T uc010lpk.2 + 43 6215 c.6215C>T c.(6214-6216)GCC>GTC p.A2072V NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 2072 F5/8 type C. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTGGGGCTGGCCGGACTGGCT 0.682 4 95 --- --- --- --- PASS ABP1 26 broad.mit.edu 37 7 150553564 150553564 + Silent SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:150553564G>T uc003why.1 + 3 4224 c.6G>T c.(4-6)CCG>CCT p.P2P ABP1_uc003whz.1_Silent_p.P2P|ABP1_uc003wia.1_Silent_p.P2P NM_001091 NP_001082 P19801 ABP1_HUMAN amiloride binding protein 1 precursor 2 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding ovary(2)|breast(2)|skin(2) 6 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) GAGAGATGCCGGCCCTGGGCT 0.607 45 67 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151945252 151945252 + Missense_Mutation SNP C G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr7:151945252C>G uc003wla.2 - 14 2486 c.2267G>C c.(2266-2268)GGA>GCA p.G756A NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 756 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) AGATTTGCCTCCTTGGTATGA 0.393 N medulloblastoma 9 427 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3256999 3256999 + Silent SNP T C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr8:3256999T>C uc011kwk.1 - 16 2712 c.2322A>G c.(2320-2322)GGA>GGG p.G774G CSMD1_uc011kwj.1_Silent_p.G166G NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 774 Extracellular (Potential).|CUB 5. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ATCCTGGCCATCCAGGAGGCA 0.388 14 55 --- --- --- --- PASS MSR1 4481 broad.mit.edu 37 8 16026196 16026196 + Missense_Mutation SNP T A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr8:16026196T>A uc003wwz.2 - 4 599 c.401A>T c.(400-402)AAC>ATC p.N134I MSR1_uc010lsu.2_Missense_Mutation_p.N152I|MSR1_uc003wxa.2_Missense_Mutation_p.N134I|MSR1_uc003wxb.2_Missense_Mutation_p.N134I|MSR1_uc011kxz.1_Intron NM_138715 NP_619729 P21757 MSRE_HUMAN macrophage scavenger receptor 1 isoform type 1 134 Extracellular (Potential). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity ovary(1) 1 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) GTCCATGAGGTTGGCTTCCAT 0.398 223 79 --- --- --- --- PASS PSD3 23362 broad.mit.edu 37 8 18729986 18729986 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr8:18729986G>C uc003wza.2 - 3 491 c.388C>G c.(388-390)CCC>GCC p.P130A NM_015310 NP_056125 Q9NYI0 PSD3_HUMAN ADP-ribosylation factor guanine nucleotide 130 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity ovary(3) 3 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) GAGTCAATGGGCTGTAAACTT 0.468 159 69 --- --- --- --- PASS TEX15 56154 broad.mit.edu 37 8 30704887 30704887 + Silent SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr8:30704887C>T uc003xil.2 - 1 1647 c.1647G>A c.(1645-1647)GTG>GTA p.V549V NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 549 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTGCTGCTGACACTGCATTAT 0.333 157 52 --- --- --- --- PASS UNC5D 137970 broad.mit.edu 37 8 35406884 35406884 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr8:35406884C>A uc003xjr.1 + 2 506 c.178C>A c.(178-180)CCA>ACA p.P60T UNC5D_uc003xjs.1_Missense_Mutation_p.P55T NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 60 Extracellular (Potential).|Ig-like. apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CATAGAGGAGCCAGATGATGC 0.483 76 32 --- --- --- --- PASS PRKDC 5591 broad.mit.edu 37 8 48869797 48869797 + Silent SNP T C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr8:48869797T>C uc003xqi.2 - 3 315 c.258A>G c.(256-258)CTA>CTG p.L86L PRKDC_uc003xqj.2_Silent_p.L86L|PRKDC_uc011ldh.1_Silent_p.L86L NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 86 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) ATAAAAACTTTAGGATTTCTT 0.303 NHEJ 33 8 --- --- --- --- PASS SNTG1 54212 broad.mit.edu 37 8 51363290 51363290 + Splice_Site SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr8:51363290G>T uc010lxy.1 + 9 734 c.363_splice c.e9+1 p.V121_splice SNTG1_uc003xqs.1_Splice_Site_p.V121_splice|SNTG1_uc010lxz.1_Splice_Site_p.V121_splice|SNTG1_uc011ldl.1_Splice_Site NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TGAAGAAGTGGTGAGTTTACT 0.328 36 14 --- --- --- --- PASS NSMAF 8439 broad.mit.edu 37 8 59510091 59510091 + Silent SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr8:59510091C>T uc003xtt.2 - 21 1861 c.1647G>A c.(1645-1647)GAG>GAA p.E549E NSMAF_uc011lee.1_Silent_p.E580E NM_003580 NP_003571 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation 549 BEACH. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity ovary(1) 1 all_lung(136;0.174)|Lung NSC(129;0.2) TGGCTACCTTCTCATCAGGAT 0.423 4 184 --- --- --- --- PASS NCOA2 10499 broad.mit.edu 37 8 71069449 71069449 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr8:71069449G>A uc003xyn.1 - 11 1313 c.1151C>T c.(1150-1152)CCG>CTG p.P384L NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 384 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) AGTCAGATCCGGATTCATCAC 0.413 T RUNXBP2 AML 38 14 --- --- --- --- PASS DCAF4L2 138009 broad.mit.edu 37 8 88885511 88885511 + Missense_Mutation SNP T C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr8:88885511T>C uc003ydz.2 - 1 786 c.689A>G c.(688-690)CAG>CGG p.Q230R NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 230 ovary(1) 1 TGCAAACTGCTGGGCCAAGAC 0.517 100 51 --- --- --- --- PASS TMEM74 157753 broad.mit.edu 37 8 109796805 109796805 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr8:109796805C>T uc003ymy.1 - 2 628 c.523G>A c.(523-525)GAC>AAC p.D175N TMEM74_uc003ymx.2_Intron NM_153015 NP_694560 Q96NL1 TMM74_HUMAN transmembrane protein 74 175 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) AAACCATAGTCTATAGACTTC 0.483 9 149 --- --- --- --- PASS TMEM74 157753 broad.mit.edu 37 8 109796815 109796815 + Silent SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr8:109796815C>A uc003ymy.1 - 2 618 c.513G>T c.(511-513)GGG>GGT p.G171G TMEM74_uc003ymx.2_Intron NM_153015 NP_694560 Q96NL1 TMM74_HUMAN transmembrane protein 74 171 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) CTATAGACTTCCCTGAAGACG 0.483 6 156 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110476533 110476533 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr8:110476533G>C uc003yne.2 + 49 7576 c.7472G>C c.(7471-7473)AGA>ACA p.R2491T NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2491 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TCTTATGTAAGAGGCTGTGCA 0.428 HNSCC(38;0.096) 57 29 --- --- --- --- PASS COL14A1 7373 broad.mit.edu 37 8 121228694 121228694 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr8:121228694G>A uc003yox.2 + 14 1967 c.1702G>A c.(1702-1704)GTA>ATA p.V568I COL14A1_uc003yoy.2_Missense_Mutation_p.V246I|COL14A1_uc010mde.1_Missense_Mutation_p.V246I NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 568 Fibronectin type-III 4. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TTATCGAATTGTATATAACAA 0.348 58 222 --- --- --- --- PASS ZFAT 57623 broad.mit.edu 37 8 135669838 135669838 + Silent SNP T A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr8:135669838T>A uc003yup.2 - 2 337 c.162A>T c.(160-162)ACA>ACT p.T54T ZFAT_uc003yun.2_Silent_p.T42T|ZFAT_uc003yuo.2_Silent_p.T42T|ZFAT_uc010meh.2_Silent_p.T42T|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.T42T|ZFAT_uc010mej.2_Silent_p.T54T|ZFAT_uc003yur.2_Silent_p.T42T NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 54 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) GGGGTTCAGGTGTACTCAGAG 0.512 71 44 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139164883 139164883 + Missense_Mutation SNP A T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr8:139164883A>T uc003yuy.2 - 13 2006 c.1835T>A c.(1834-1836)CTC>CAC p.L612H FAM135B_uc003yux.2_Missense_Mutation_p.L513H|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.L174H|FAM135B_uc003yvb.2_Missense_Mutation_p.L174H NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 612 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) TAATTCATGGAGAGTTGTTTT 0.458 HNSCC(54;0.14) 255 140 --- --- --- --- PASS CYP11B1 1584 broad.mit.edu 37 8 143961094 143961094 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr8:143961094C>T uc003yxi.2 - 1 143 c.136G>A c.(136-138)GGC>AGC p.G46S CYP11B1_uc003yxj.2_Missense_Mutation_p.G46S|CYP11B1_uc010mey.2_Missense_Mutation_p.G46S NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 46 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) CACCTGTTGCCTGGACGCCGG 0.632 Familial_Hyperaldosteronism_type_I 77 40 --- --- --- --- PASS SH3GL2 6456 broad.mit.edu 37 9 17789429 17789429 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr9:17789429G>A uc003zna.2 + 6 793 c.505G>A c.(505-507)GAT>AAT p.D169N SH3GL2_uc011lmx.1_Missense_Mutation_p.D134N|SH3GL2_uc011lmy.1_Missense_Mutation_p.D122N NM_003026 NP_003017 Q99962 SH3G2_HUMAN SH3-domain GRB2-like 2 169 BAR. axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport cytosol|Golgi membrane|plasma membrane identical protein binding|lipid binding skin(1) 1 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) CCTGGATTTTGATTATAAGAA 0.423 68 38 --- --- --- --- PASS SLC24A2 25769 broad.mit.edu 37 9 19786693 19786693 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr9:19786693C>A uc003zoa.1 - 1 234 c.172G>T c.(172-174)GCC>TCC p.A58S SLC24A2_uc003zob.1_Missense_Mutation_p.A58S NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN solute carrier family 24 58 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(3) 3 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) TCAGAAAAGGCACTGATTGAA 0.428 116 49 --- --- --- --- PASS TLN1 7094 broad.mit.edu 37 9 35699040 35699040 + Missense_Mutation SNP C G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr9:35699040C>G uc003zxt.2 - 52 7342 c.6988G>C c.(6988-6990)GCC>CCC p.A2330P NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 2330 I/LWEQ. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TTGGGTTTGGCCCGGGGCTTC 0.562 31 48 --- --- --- --- PASS GNE 10020 broad.mit.edu 37 9 36223384 36223384 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr9:36223384C>T uc010mlh.2 - 8 1612 c.1397G>A c.(1396-1398)AGA>AAA p.R466K CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Missense_Mutation_p.R466K|GNE_uc011lpl.1_Missense_Mutation_p.R356K|GNE_uc010mli.2_Missense_Mutation_p.R497K|GNE_uc010mlj.2_Missense_Mutation_p.R461K NM_005476 NP_005467 Q9Y223 GLCNE_HUMAN UDP-N-acetylglucosamine-2-epimerase/N- 466 UDP-N-acetylglucosamine 2-epimerase.|N-acetylmannosamine kinase. cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity 0 STAD - Stomach adenocarcinoma(86;0.228) TCCCAAAATTCTGCAGTTCAG 0.348 95 40 --- --- --- --- PASS TRPM6 140803 broad.mit.edu 37 9 77397632 77397632 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr9:77397632C>A uc004ajl.1 - 22 3295 c.3057G>T c.(3055-3057)TGG>TGT p.W1019C TRPM6_uc004ajk.1_Missense_Mutation_p.W1014C|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Missense_Mutation_p.W305C NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1019 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 CGTATATCATCCAGTATGGCT 0.438 4 188 --- --- --- --- PASS PRUNE2 158471 broad.mit.edu 37 9 79325074 79325074 + Missense_Mutation SNP T G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr9:79325074T>G uc010mpk.2 - 8 2240 c.2116A>C c.(2116-2118)AAG>CAG p.K706Q NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 706 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 TCGAGGCTCTTTGGTTGAAAT 0.443 25 46 --- --- --- --- PASS SYK 6850 broad.mit.edu 37 9 93636955 93636955 + Silent SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr9:93636955C>A uc004aqz.2 + 9 1210 c.1005C>A c.(1003-1005)GGC>GGA p.G335G SYK_uc004ara.2_Silent_p.G312G|SYK_uc004arb.2_Silent_p.G312G|SYK_uc004arc.2_Silent_p.G335G|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA NM_003177 NP_003168 P43405 KSYK_HUMAN spleen tyrosine kinase isoform 1 335 Linker. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|skin(1) 5 GCATTGCAGGCCCCCAGAGAG 0.552 T ETV6|ITK MDS|peripheral T-cell lymphoma 6 410 --- --- --- --- PASS ALDOB 229 broad.mit.edu 37 9 104192152 104192152 + Missense_Mutation SNP A G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr9:104192152A>G uc004bbk.2 - 3 291 c.209T>C c.(208-210)ATC>ACC p.I70T NM_000035 NP_000026 P05062 ALDOB_HUMAN aldolase B, fructose-bisphosphate 70 fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding skin(1) 1 Acute lymphoblastic leukemia(62;0.0559) GCTCTGGTTGATGGAACTGTC 0.527 84 265 --- --- --- --- PASS FKTN 2218 broad.mit.edu 37 9 108397528 108397528 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr9:108397528G>A uc004bcr.2 + 11 1585 c.1369G>A c.(1369-1371)GTT>ATT p.V457I FKTN_uc011lvx.1_Intron|FKTN_uc004bcs.2_Missense_Mutation_p.V457I|FKTN_uc011lvy.1_3'UTR|FKTN_uc010mtm.2_Missense_Mutation_p.V325I NM_001079802 NP_001073270 O75072 FKTN_HUMAN fukutin 457 Lumenal (Potential). muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus transferase activity breast(2)|ovary(1) 3 GTGGGATGAGGTTATCCAGTT 0.398 142 40 --- --- --- --- PASS KIAA1958 158405 broad.mit.edu 37 9 115421967 115421967 + Missense_Mutation SNP A G G rs143861651 TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr9:115421967A>G uc004bgf.1 + 4 1944 c.1769A>G c.(1768-1770)CAA>CGA p.Q590R KIAA1958_uc011lwx.1_Missense_Mutation_p.Q618R NM_133465 NP_597722 Q8N8K9 K1958_HUMAN hypothetical protein LOC158405 590 skin(1) 1 AAAGACCCCCAAAACCAGCCC 0.577 13 54 --- --- --- --- PASS ZBTB6 10773 broad.mit.edu 37 9 125673735 125673735 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr9:125673735G>C uc004bnh.2 - 2 706 c.617C>G c.(616-618)TCT>TGT p.S206C NM_006626 NP_006617 Q15916 ZBTB6_HUMAN zinc finger and BTB domain containing 6 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTCTACTGTAGACAGCTCTGG 0.393 101 100 --- --- --- --- PASS SURF4 6836 broad.mit.edu 37 9 136234304 136234304 + Silent SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr9:136234304C>T uc004cdj.2 - 2 196 c.66G>A c.(64-66)AAG>AAA p.K22K SURF4_uc011mda.1_Silent_p.K13K|SURF4_uc010nal.2_Silent_p.K54K|SURF4_uc011mdb.1_5'UTR|SURF4_uc011mdc.1_5'UTR|SURF4_uc011mdd.1_Silent_p.K22K NM_033161 NP_149351 O15260 SURF4_HUMAN surfeit 4 22 endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05) GCAGGTACTGCTTTGTGACAC 0.657 21 81 --- --- --- --- PASS SLC2A6 11182 broad.mit.edu 37 9 136338552 136338552 + Missense_Mutation SNP T C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr9:136338552T>C uc004cee.2 - 8 1302 c.1207A>G c.(1207-1209)ATG>GTG p.M403V SLC2A6_uc004cef.2_Intron|SLC2A6_uc004ceg.2_Missense_Mutation_p.M380V NM_017585 NP_060055 Q9UGQ3 GTR6_HUMAN solute carrier family 2 (facilitated glucose 403 Helical; Name=10; (Potential). integral to membrane|plasma membrane D-glucose transmembrane transporter activity 0 OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05) ATGAAGAGCATGGTGGCCAGC 0.652 11 7 --- --- --- --- PASS DBH 1621 broad.mit.edu 37 9 136501657 136501657 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr9:136501657C>A uc004cel.2 + 1 173 c.164C>A c.(163-165)CCG>CAG p.P55Q NM_000787 NP_000778 P09172 DOPO_HUMAN dopamine beta hydroxylase precursor 55 Intragranular (Potential). hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CCCCTGGACCCGGAGGGGTCC 0.642 55 10 --- --- --- --- PASS SARDH 1757 broad.mit.edu 37 9 136573495 136573495 + Missense_Mutation SNP C G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr9:136573495C>G uc004cep.3 - 11 1518 c.1384G>C c.(1384-1386)GAG>CAG p.E462Q SARDH_uc004ceo.2_Missense_Mutation_p.E462Q|SARDH_uc011mdn.1_Missense_Mutation_p.E462Q|SARDH_uc011mdo.1_Missense_Mutation_p.E294Q NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 462 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GCGTAGGACTCATGGCTTCGC 0.652 62 39 --- --- --- --- PASS COL5A1 1289 broad.mit.edu 37 9 137657551 137657551 + Missense_Mutation SNP A C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr9:137657551A>C uc004cfe.2 + 21 2441 c.2059A>C c.(2059-2061)AAG>CAG p.K687Q NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 687 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GCTTGGGCCGAAGGGGCCCCC 0.622 13 226 --- --- --- --- PASS C9orf172 389813 broad.mit.edu 37 9 139739830 139739830 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr9:139739830C>A uc011meh.1 + 1 964 c.964C>A c.(964-966)CGC>AGC p.R322S PHPT1_uc004cjp.2_5'Flank NM_001080482 NP_001073951 C9J069 CI172_HUMAN chromosome 9 open reading frame 172 322 Pro-rich. 0 CAGTCCAAGGCGCATGGGCGG 0.677 3 53 --- --- --- --- PASS ITGA8 8516 broad.mit.edu 37 10 15561362 15561362 + Missense_Mutation SNP G T T rs141983422 TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr10:15561362G>T uc001ioc.1 - 29 3032 c.3032C>A c.(3031-3033)CCA>CAA p.P1011Q ITGA8_uc010qcb.1_Missense_Mutation_p.P996Q NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 1011 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 TACCCATAATGGGATTGAGAA 0.348 86 153 --- --- --- --- PASS ZNF438 220929 broad.mit.edu 37 10 31133898 31133898 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr10:31133898C>T uc010qdz.1 - 8 2914 c.2479G>A c.(2479-2481)GAG>AAG p.E827K ZNF438_uc001ivn.2_Missense_Mutation_p.E778K|ZNF438_uc010qdy.1_Missense_Mutation_p.E817K|ZNF438_uc001ivo.3_Missense_Mutation_p.E391K|ZNF438_uc009xlg.2_Missense_Mutation_p.E827K|ZNF438_uc001ivp.3_Missense_Mutation_p.E817K|ZNF438_uc010qea.1_Missense_Mutation_p.E827K|ZNF438_uc010qeb.1_Missense_Mutation_p.E827K NM_182755 NP_877432 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 isoform a 827 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 Prostate(175;0.0587) TCTCATTTCTCAGCTTCACTG 0.512 104 476 --- --- --- --- PASS KIF5B 3799 broad.mit.edu 37 10 32309970 32309970 + Missense_Mutation SNP T A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr10:32309970T>A uc001iwe.3 - 19 2654 c.2184A>T c.(2182-2184)AAA>AAT p.K728N NM_004521 NP_004512 P33176 KINH_HUMAN kinesin family member 5B 728 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) CAGTAATAAGTTTTGCTTTTG 0.348 131 75 --- --- --- --- PASS RET 5979 broad.mit.edu 37 10 43606776 43606776 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr10:43606776C>T uc001jal.2 + 7 1575 c.1385C>T c.(1384-1386)TCG>TTG p.S462L RET_uc001jak.1_Missense_Mutation_p.S462L|RET_uc010qez.1_Missense_Mutation_p.S208L NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 462 Extracellular (Potential). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) GAGGACACCTCGGGGATCCTG 0.597 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma 62 162 --- --- --- --- PASS HK1 3098 broad.mit.edu 37 10 71146157 71146157 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr10:71146157G>T uc001jpl.3 + 13 2019 c.1918G>T c.(1918-1920)GCG>TCG p.A640S HK1_uc001jpg.3_Missense_Mutation_p.A628S|HK1_uc001jph.3_Missense_Mutation_p.A644S|HK1_uc001jpi.3_Missense_Mutation_p.A644S|HK1_uc001jpj.3_Missense_Mutation_p.A675S|HK1_uc001jpk.3_Missense_Mutation_p.A639S|HK1_uc009xqd.2_Missense_Mutation_p.A518S NM_000188 NP_000179 P19367 HXK1_HUMAN hexokinase 1 isoform HKI 640 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity ovary(1) 1 ACTAAGGGATGCGATAAAAAG 0.383 20 81 --- --- --- --- PASS CDH23 64072 broad.mit.edu 37 10 73437260 73437260 + Missense_Mutation SNP T A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr10:73437260T>A uc001jrx.3 + 15 1939 c.1562T>A c.(1561-1563)CTG>CAG p.L521Q CDH23_uc001jry.2_Missense_Mutation_p.L137Q|CDH23_uc001jrz.2_Missense_Mutation_p.L137Q NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 521 Cadherin 5.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 ATTGCCAGGCTGGACTATGAG 0.587 3 15 --- --- --- --- PASS DLG5 9231 broad.mit.edu 37 10 79584220 79584220 + Silent SNP T A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr10:79584220T>A uc001jzk.2 - 14 2374 c.2304A>T c.(2302-2304)GCA>GCT p.A768A DLG5_uc001jzj.2_Silent_p.A523A|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Silent_p.A372A NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 768 PDZ 2. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) TGTTGTCCAGTGCAATGCCAT 0.567 20 45 --- --- --- --- PASS POLR3A 11128 broad.mit.edu 37 10 79784336 79784336 + Missense_Mutation SNP C G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr10:79784336C>G uc001jzn.2 - 5 710 c.616G>C c.(616-618)GAA>CAA p.E206Q NM_007055 NP_008986 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide 206 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding 0 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) GGCTCCACTTCTTTATTATGT 0.353 28 84 --- --- --- --- PASS NRG3 10718 broad.mit.edu 37 10 84118601 84118601 + Silent SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr10:84118601G>A uc001kco.2 + 2 957 c.930G>A c.(928-930)CTG>CTA p.L310L NRG3_uc010qlz.1_Silent_p.L310L|NRG3_uc001kcp.2_Silent_p.L89L|NRG3_uc001kcq.2_5'UTR NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 310 EGF-like.|Extracellular (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) TCGAAACCCTGACCGGATCCC 0.567 18 71 --- --- --- --- PASS MMRN2 79812 broad.mit.edu 37 10 88702234 88702234 + Silent SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr10:88702234G>A uc001kea.2 - 6 2434 c.2307C>T c.(2305-2307)GAC>GAT p.D769D MMRN2_uc010qmn.1_Silent_p.D412D|MMRN2_uc009xtb.2_Silent_p.D726D NM_024756 NP_079032 Q9H8L6 MMRN2_HUMAN multimerin 2 precursor 769 extracellular space large_intestine(1) 1 GCTTCCCCAGGTCCAGGCTGA 0.592 51 216 --- --- --- --- PASS MIR607 693192 broad.mit.edu 37 10 98588498 98588498 + RNA SNP T C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr10:98588498T>C hsa-mir-607|MI0003620 - c.24T>C 0 aatccagatctataacctgtg 0.045 17 8 --- --- --- --- PASS PTDSS2 81490 broad.mit.edu 37 11 490429 490429 + Silent SNP A G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:490429A>G uc001lpj.2 + 12 1487 c.1311A>G c.(1309-1311)ACA>ACG p.T437T NM_030783 NP_110410 Q9BVG9 PTSS2_HUMAN phosphatidylserine synthase 2 437 Cytoplasmic (Potential). integral to membrane 0 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735) Phosphatidylserine(DB00144) GGGACATCACATTGAGGTACA 0.652 39 13 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1263098 1263098 + Missense_Mutation SNP C G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:1263098C>G uc009ycr.1 + 47 7193 c.7067C>G c.(7066-7068)ACA>AGA p.T2356R MUC5B_uc001ltb.2_Missense_Mutation_p.T1666R NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 1663 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCCAGATACACAAGCACCCTT 0.667 11 13 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1264937 1264937 + Missense_Mutation SNP C G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:1264937C>G uc009ycr.1 + 48 8867 c.8741C>G c.(8740-8742)ACC>AGC p.T2914S MUC5B_uc001ltb.2_Missense_Mutation_p.T2279S NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 2276 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCGGGCCACACCACGGCCACC 0.682 34 71 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1273698 1273698 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:1273698C>T uc009ycr.1 + 53 16081 c.15955C>T c.(15955-15957)CCG>TCG p.P5319S MUC5B_uc001ltb.2_Missense_Mutation_p.P5000S NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 4997 cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GTCCTCCGCCCCGCTGTCCTC 0.692 14 25 --- --- --- --- PASS ZNF195 7748 broad.mit.edu 37 11 3392296 3392296 + Silent SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:3392296G>A uc001lxt.2 - 3 313 c.135C>T c.(133-135)CTC>CTT p.L45L ZNF195_uc001lxv.2_Silent_p.L45L|ZNF195_uc001lxs.2_Silent_p.L45L|ZNF195_uc010qxr.1_Silent_p.L49L|ZNF195_uc009ydz.2_Silent_p.L49L|ZNF195_uc001lxu.2_Silent_p.L49L NM_001130520 NP_001123992 O14628 ZN195_HUMAN zinc finger protein 195 isoform 1 45 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) TACAGACAGTGAGACCTGTTT 0.448 65 280 --- --- --- --- PASS OR51B2 79345 broad.mit.edu 37 11 5344605 5344605 + Missense_Mutation SNP T C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:5344605T>C uc001mao.1 - 1 978 c.923A>G c.(922-924)CAT>CGT p.H308R HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033180 NP_149420 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, 308 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTAAACCTATGTTTAGATAA 0.368 37 85 --- --- --- --- PASS OR52E8 390079 broad.mit.edu 37 11 5877992 5877992 + Missense_Mutation SNP T A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:5877992T>A uc010qzr.1 - 1 941 c.941A>T c.(940-942)AAG>ATG p.K314M TRIM5_uc001mbq.1_Intron NM_001005168 NP_001005168 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, 314 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTGATTGGTCTTGAGAAAAAT 0.433 185 235 --- --- --- --- PASS OR52B2 255725 broad.mit.edu 37 11 6190650 6190650 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:6190650C>T uc010qzy.1 - 1 907 c.907G>A c.(907-909)GAG>AAG p.E303K NM_001004052 NP_001004052 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, 303 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTACACCCTCACGTATCTGC 0.488 71 83 --- --- --- --- PASS PPFIBP2 8495 broad.mit.edu 37 11 7672958 7672958 + Silent SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:7672958C>T uc001mfj.3 + 23 2707 c.2319C>T c.(2317-2319)CTC>CTT p.L773L PPFIBP2_uc010rbb.1_Silent_p.L696L|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Silent_p.L707L|PPFIBP2_uc010rbe.1_Silent_p.L661L|PPFIBP2_uc001mfl.3_Silent_p.L630L|PPFIBP2_uc009yfj.1_Silent_p.L417L NM_003621 NP_003612 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 773 SAM 3. cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding ovary(2)|breast(2) 4 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) AGACGCTCCTCAGGCGCCACC 0.562 86 102 --- --- --- --- PASS EIF3F 8665 broad.mit.edu 37 11 8016065 8016065 + Splice_Site SNP G T T rs113494623 TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:8016065G>T uc001mfw.2 + 5 778 c.745_splice c.e5+1 p.V249_splice EIF3F_uc010rbj.1_Splice_Site_p.V100_splice NM_003754 NP_003745 O00303 EIF3F_HUMAN eukaryotic translation initiation factor 3, cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(1) 1 Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CGCATCGGAGGTGAGTAACCT 0.537 26 35 --- --- --- --- PASS TTC17 55761 broad.mit.edu 37 11 43429001 43429001 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:43429001G>C uc001mxi.2 + 15 1952 c.1938G>C c.(1936-1938)TTG>TTC p.L646F TTC17_uc001mxh.2_Missense_Mutation_p.L646F|TTC17_uc010rfj.1_Missense_Mutation_p.L589F|TTC17_uc001mxj.2_Missense_Mutation_p.L416F NM_018259 NP_060729 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 646 TPR 2. binding ovary(5) 5 AGAGGGCTTTGAATTTAGCTC 0.438 33 170 --- --- --- --- PASS ARHGAP1 392 broad.mit.edu 37 11 46717598 46717598 + Silent SNP C G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:46717598C>G uc001ndd.2 - 2 129 c.60G>C c.(58-60)CTG>CTC p.L20L ARHGAP1_uc009yle.1_Silent_p.L20L|ARHGAP1_uc009ylf.1_Silent_p.L20L NM_004308 NP_004299 Q07960 RHG01_HUMAN Rho GTPase activating protein 1 20 Rho protein signal transduction cytosol|intracellular membrane-bounded organelle SH3 domain binding|SH3/SH2 adaptor activity skin(1) 1 Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11) GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153) TCAGCTGGTTCAGAGCCTCGC 0.577 23 31 --- --- --- --- PASS OR4A15 81328 broad.mit.edu 37 11 55135615 55135615 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:55135615C>T uc010rif.1 + 1 256 c.256C>T c.(256-258)CCC>TCC p.P86S NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 86 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CCTGGGTTCCCCCATGTACTT 0.408 124 128 --- --- --- --- PASS OR5R1 219479 broad.mit.edu 37 11 56184900 56184900 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:56184900G>T uc010rji.1 - 1 809 c.809C>A c.(808-810)ACA>AAA p.T270K NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, 270 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) CATCTTGTCTGTGTCCAAGGA 0.423 149 154 --- --- --- --- PASS OR1S1 219959 broad.mit.edu 37 11 57982280 57982280 + Missense_Mutation SNP A G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:57982280A>G uc010rkc.1 + 1 64 c.64A>G c.(64-66)ATC>GTC p.I22V NM_001004458 NP_001004458 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Breast(21;0.0589) CCAAACCACCATCACTGAATT 0.403 140 126 --- --- --- --- PASS OR5B2 390190 broad.mit.edu 37 11 58190240 58190240 + Silent SNP A C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:58190240A>C uc010rkg.1 - 1 495 c.495T>G c.(493-495)TCT>TCG p.S165S NM_001005566 NP_001005566 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, 165 Extracellular (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) ATTTACAGAAAGAGAGACTGA 0.473 9 73 --- --- --- --- PASS OR5A1 219982 broad.mit.edu 37 11 59210735 59210735 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:59210735G>C uc001nnx.1 + 1 94 c.94G>C c.(94-96)GTG>CTG p.V32L NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, 32 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 CCTCCTCTTTGTGACCTTCCT 0.522 66 175 --- --- --- --- PASS PATL1 219988 broad.mit.edu 37 11 59410359 59410359 + Silent SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:59410359C>T uc001noe.3 - 16 2186 c.2043G>A c.(2041-2043)CAG>CAA p.Q681Q PATL1_uc009yms.1_Silent_p.Q651Q NM_152716 NP_689929 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog 681 Region C. cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body protein binding|RNA binding ovary(1) 1 TCACCTTGTTCTGGAGCACAG 0.438 101 271 --- --- --- --- PASS TCN1 6947 broad.mit.edu 37 11 59631459 59631459 + Silent SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:59631459G>T uc001noj.2 - 2 278 c.180C>A c.(178-180)TCC>TCA p.S60S NM_001062 NP_001053 P20061 TCO1_HUMAN transcobalamin I precursor 60 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding ovary(2) 2 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CAAGTTTGAGGGACAACACAA 0.398 206 231 --- --- --- --- PASS C11orf9 745 broad.mit.edu 37 11 61548730 61548730 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:61548730C>T uc001nsc.1 + 21 2789 c.2693C>T c.(2692-2694)CCT>CTT p.P898L C11orf9_uc001nse.1_Missense_Mutation_p.P863L|C11orf9_uc010rll.1_Missense_Mutation_p.P289L NM_001127392 NP_001120864 Q9Y2G1 MRF_HUMAN myelin gene regulatory factor isoform 2 898 central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 accactggtcctagtcttggc 0.358 75 62 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62294756 62294756 + Missense_Mutation SNP T A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:62294756T>A uc001ntl.2 - 5 7433 c.7133A>T c.(7132-7134)GAT>GTT p.D2378V AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2378 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) AAAGTGCATATCTGGCATCTT 0.453 245 210 --- --- --- --- PASS INTS5 80789 broad.mit.edu 37 11 62415255 62415255 + Nonsense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:62415255G>T uc001nud.2 - 2 2350 c.2297C>A c.(2296-2298)TCA>TAA p.S766* GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank NM_030628 NP_085131 Q6P9B9 INT5_HUMAN integrator complex subunit 5 766 snRNA processing integral to membrane|integrator complex protein binding ovary(2) 2 CTGATTTCGTGACTGGACAAA 0.572 35 96 --- --- --- --- PASS ZBTB3 79842 broad.mit.edu 37 11 62521022 62521022 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:62521022G>C uc001nuz.2 - 2 387 c.265C>G c.(265-267)CGG>GGG p.R89G NM_024784 NP_079060 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 89 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 AGCACAGCCCGATGGGCCAAG 0.557 43 31 --- --- --- --- PASS KCNK4 50801 broad.mit.edu 37 11 64065659 64065659 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:64065659G>A uc001nzj.1 + 6 1062 c.739G>A c.(739-741)GCC>ACC p.A247T KCNK4_uc001nzk.1_Missense_Mutation_p.R131H|KCNK4_uc010rnk.1_Missense_Mutation_p.A75T|KCNK4_uc001nzl.1_Missense_Mutation_p.R131H|KCNK4_uc001nzm.3_RNA|KCNK4_uc001nzn.1_Missense_Mutation_p.A247T|KCNK4_uc001nzo.2_Missense_Mutation_p.A247T|KCNK4_uc001nzp.1_Missense_Mutation_p.A133T|C11orf20_uc009ypm.2_5'Flank NM_033310 NP_201567 Q9NYG8 KCNK4_HUMAN TRAAK 247 Helical; (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity 0 GGCTTACTTCGCCTCAGTGCT 0.662 29 19 --- --- --- --- PASS SLC22A11 55867 broad.mit.edu 37 11 64326618 64326618 + Silent SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:64326618G>A uc001oai.2 + 2 779 c.405G>A c.(403-405)GTG>GTA p.V135V SLC22A11_uc001oah.1_Intron|SLC22A11_uc001oaj.2_Silent_p.V135V|SLC22A11_uc009ypq.2_Silent_p.V135V|SLC22A11_uc001oak.1_5'Flank NM_018484 NP_060954 Q9NSA0 S22AB_HUMAN solute carrier family 22 member 11 135 Extracellular (Potential). urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Probenecid(DB01032) GGGACCTGGTGTGCAGCTCCC 0.632 48 133 --- --- --- --- PASS CFL1 1072 broad.mit.edu 37 11 65622856 65622856 + Missense_Mutation SNP T A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:65622856T>A uc001ofs.2 - 4 686 c.452A>T c.(451-453)GAG>GTG p.E151V CFL1_uc001oft.2_Missense_Mutation_p.E151V|CFL1_uc001ofu.2_3'UTR NM_005507 NP_005498 P23528 COF1_HUMAN cofilin 1 (non-muscle) 151 ADF-H. actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction cytoplasm|cytoskeleton|nuclear matrix actin binding 0 READ - Rectum adenocarcinoma(159;0.169) CCCCAGCTTCTCTGCCAGGGT 0.592 47 41 --- --- --- --- PASS CD248 57124 broad.mit.edu 37 11 66082624 66082624 + Silent SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:66082624G>A uc001ohm.1 - 1 1892 c.1875C>T c.(1873-1875)AGC>AGT p.S625S NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 625 Pro-rich.|Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) GGTTAGTGGGGCTCTGAGAGG 0.632 72 49 --- --- --- --- PASS CHKA 1119 broad.mit.edu 37 11 67842266 67842266 + Missense_Mutation SNP A G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:67842266A>G uc001onj.2 - 4 762 c.548T>C c.(547-549)ATG>ACG p.M183T CHKA_uc001onk.2_Missense_Mutation_p.M165T NM_001277 NP_001268 P35790 CHKA_HUMAN choline kinase alpha isoform a 183 lipid transport|phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity ovary(1)|central_nervous_system(1) 2 Choline(DB00122) AATGGCAAACATAACGCTCTC 0.393 33 89 --- --- --- --- PASS SHANK2 22941 broad.mit.edu 37 11 70319024 70319024 + Missense_Mutation SNP C G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:70319024C>G uc001oqc.2 - 22 5578 c.5500G>C c.(5500-5502)GGG>CGG p.G1834R SHANK2_uc010rqn.1_Missense_Mutation_p.G1246R|SHANK2_uc001opz.2_Missense_Mutation_p.G1239R|uc009ysn.1_5'UTR|SHANK2_uc001opy.2_Missense_Mutation_p.G170R NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1455 SAM. intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) ATTCTGTGCCCGACTCGAGTT 0.498 180 158 --- --- --- --- PASS C11orf30 56946 broad.mit.edu 37 11 76253386 76253386 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:76253386G>C uc001oxl.2 + 18 2827 c.2684G>C c.(2683-2685)GGA>GCA p.G895A C11orf30_uc001oxm.2_Missense_Mutation_p.G797A|C11orf30_uc010rsb.1_Missense_Mutation_p.G910A|C11orf30_uc010rsc.1_Missense_Mutation_p.G896A|C11orf30_uc001oxn.2_Missense_Mutation_p.G896A|C11orf30_uc010rsd.1_Missense_Mutation_p.G804A|C11orf30_uc001oxo.1_Missense_Mutation_p.G249A|C11orf30_uc010rse.1_Missense_Mutation_p.G142A|C11orf30_uc001oxp.2_5'UTR NM_020193 NP_064578 Q7Z589 EMSY_HUMAN EMSY protein 895 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 TCTTCCCCTGGAGCAATCACC 0.507 123 491 --- --- --- --- PASS ODZ4 26011 broad.mit.edu 37 11 78369701 78369701 + Missense_Mutation SNP T G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:78369701T>G uc001ozl.3 - 34 8175 c.7712A>C c.(7711-7713)AAG>ACG p.K2571T ODZ4_uc001ozk.3_Missense_Mutation_p.K796T|ODZ4_uc009yvb.1_Intron NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 2571 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 CAAGGCAAACTTGACCCCCTT 0.547 17 34 --- --- --- --- PASS GRM5 2915 broad.mit.edu 37 11 88780705 88780705 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:88780705G>C uc001pcq.2 - 1 536 c.336C>G c.(334-336)TTC>TTG p.F112L GRM5_uc009yvm.2_Missense_Mutation_p.F112L|GRM5_uc009yvn.1_Missense_Mutation_p.F112L NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 112 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) AATCTCTTATGAACTCAATGC 0.527 30 61 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92600239 92600239 + Silent SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:92600239G>T uc001pdj.3 + 21 12008 c.11991G>T c.(11989-11991)CCG>CCT p.P3997P FAT3_uc001pdi.3_Silent_p.P437P NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 3997 Laminin G-like.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATGAGCTGCCGCTGCAGAACA 0.642 TCGA Ovarian(4;0.039) 5 0 --- --- --- --- PASS GPR83 10888 broad.mit.edu 37 11 94113341 94113341 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:94113341C>A uc001pet.2 - 4 1418 c.1246G>T c.(1246-1248)GTG>TTG p.V416L NM_016540 NP_057624 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 precursor 416 Cytoplasmic (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity central_nervous_system(2)|ovary(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) ATGGGTTCCACAGATGACAGG 0.557 45 20 --- --- --- --- PASS CWC15 51503 broad.mit.edu 37 11 94705278 94705278 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:94705278G>T uc001pfd.3 - 2 195 c.72C>A c.(70-72)AGC>AGA p.S24R CWC15_uc009ywl.1_Missense_Mutation_p.S24R|KDM4D_uc001pfe.2_5'Flank NM_016403 NP_057487 Q9P013 CWC15_HUMAN CWC15 homolog 24 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome protein binding|RNA binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TTGAAAGTTGGCTCAAATCAC 0.388 5 228 --- --- --- --- PASS CNTN5 53942 broad.mit.edu 37 11 99941169 99941169 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:99941169G>T uc001pga.2 + 11 1515 c.1176G>T c.(1174-1176)TGG>TGT p.W392C CNTN5_uc009ywv.1_Missense_Mutation_p.W392C|CNTN5_uc001pfz.2_Missense_Mutation_p.W392C|CNTN5_uc001pgb.2_Missense_Mutation_p.W318C NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 392 Ig-like C2-type 4. 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) ACCCACACTGGGTAGAAAAAC 0.413 24 14 --- --- --- --- PASS CARD18 59082 broad.mit.edu 37 11 105009724 105009724 + Nonsense_Mutation SNP A T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:105009724A>T uc001pis.2 - 1 89 c.83T>A c.(82-84)TTA>TAA p.L28* NM_021571 NP_067546 P57730 CAR18_HUMAN ICEBERG caspase-1 inhibitor 30 CARD. inflammatory response|regulation of apoptosis intracellular cysteine-type endopeptidase inhibitor activity ovary(1)|central_nervous_system(1) 2 TTCATCCTCTAATAGGCAATC 0.408 114 40 --- --- --- --- PASS DSCAML1 57453 broad.mit.edu 37 11 117342716 117342716 + Missense_Mutation SNP A T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr11:117342716A>T uc001prh.1 - 15 3003 c.3001T>A c.(3001-3003)TCC>ACC p.S1001T NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 941 Extracellular (Potential).|Fibronectin type-III 1. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) ATGGTGGGGGAGATGTTGCGT 0.537 32 72 --- --- --- --- PASS RERGL 79785 broad.mit.edu 37 12 18242192 18242192 + Missense_Mutation SNP T C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr12:18242192T>C uc001rdq.2 - 2 220 c.26A>G c.(25-27)TAT>TGT p.Y9C RERGL_uc001rdr.2_Intron NM_024730 NP_079006 Q9H628 RERGL_HUMAN RERG/RAS-like 9 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity 0 TTTCTCATTATATTTGAGATG 0.338 55 47 --- --- --- --- PASS C12orf39 80763 broad.mit.edu 37 12 21681971 21681971 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr12:21681971C>T uc001rfa.1 + 5 396 c.245C>T c.(244-246)CCG>CTG p.P82L C12orf39_uc009ziv.1_RNA|C12orf39_uc009ziw.1_RNA NM_030572 NP_085049 Q9BT56 SPXN_HUMAN spexin precursor 82 extracellular region|nucleus|transport vesicle 0 CTAACTATTCCGGAGGCAGCA 0.408 201 163 --- --- --- --- PASS SOX5 6660 broad.mit.edu 37 12 23818453 23818453 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr12:23818453C>T uc001rfw.2 - 7 958 c.856G>A c.(856-858)GAT>AAT p.D286N SOX5_uc001rfx.2_Missense_Mutation_p.D273N|SOX5_uc001rfy.2_Missense_Mutation_p.D273N|SOX5_uc010siv.1_Missense_Mutation_p.D273N|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.D238N NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 286 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 GTCCGTTGATCAGGAGGGAAT 0.493 54 144 --- --- --- --- PASS DDX11 1663 broad.mit.edu 37 12 31242059 31242059 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr12:31242059C>T uc001rjt.1 + 7 1017 c.766C>T c.(766-768)CGG>TGG p.R256W DDX11_uc010sjw.1_Missense_Mutation_p.R256W|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.R256W|DDX11_uc001rjs.1_Missense_Mutation_p.R256W|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R256W|DDX11_uc001rjw.1_Missense_Mutation_p.R230W|DDX11_uc001rjx.1_5'UTR|DDX11_uc009zjn.1_RNA NM_152438 NP_689651 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 256 Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(3) 3 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CAAGGATGTTCGGCTGGTCTC 0.542 Multiple Myeloma(12;0.14) 4 140 --- --- --- --- PASS PKP2 5318 broad.mit.edu 37 12 33030864 33030864 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr12:33030864G>A uc001rlj.3 - 3 1065 c.950C>T c.(949-951)GCG>GTG p.A317V PKP2_uc001rlk.3_Missense_Mutation_p.A317V|PKP2_uc010skj.1_Missense_Mutation_p.A317V NM_004572 NP_004563 Q99959 PKP2_HUMAN plakophilin 2 isoform 2b 317 cell-cell adhesion desmosome|integral to membrane|nucleus binding ovary(1)|pancreas(1) 2 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) AGTCAAGTGCGCTCTCCTCCC 0.637 37 36 --- --- --- --- PASS ABCD2 225 broad.mit.edu 37 12 39947905 39947905 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr12:39947905C>A uc001rmb.2 - 10 2458 c.2032G>T c.(2032-2034)GAT>TAT p.D678Y NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D, member 2 678 ABC transporter. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1) 6 CCTTCACCATCAAACTGTAAT 0.328 89 77 --- --- --- --- PASS ACVRL1 94 broad.mit.edu 37 12 52306925 52306925 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr12:52306925C>A uc001rzj.2 + 3 387 c.104C>A c.(103-105)ACG>AAG p.T35K ACVRL1_uc001rzk.2_Missense_Mutation_p.T35K|ACVRL1_uc010snm.1_Intron NM_000020 NP_000011 P37023 ACVL1_HUMAN activin A receptor type II-like 1 precursor 35 Extracellular (Potential). blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity lung(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) GTGACCTGCACGTGTGAGAGC 0.687 Hereditary_Hemorrhagic_Telangiectasia 13 9 --- --- --- --- PASS DNAJC14 85406 broad.mit.edu 37 12 56221176 56221176 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr12:56221176G>T uc001shx.1 - 2 1471 c.1267C>A c.(1267-1269)CAG>AAG p.Q423K DNAJC14_uc001shu.1_Missense_Mutation_p.Q423K|DNAJC14_uc009zob.1_Missense_Mutation_p.Q423K|DNAJC14_uc001shy.1_Missense_Mutation_p.Q423K NM_032364 NP_115740 Q6Y2X3 DJC14_HUMAN dopamine receptor interacting protein 423 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding ovary(3)|large_intestine(1) 4 TCTTCAGGCTGGCAGTAGCGC 0.542 54 247 --- --- --- --- PASS SLC16A7 9194 broad.mit.edu 37 12 60169162 60169162 + Silent SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr12:60169162C>T uc001sqs.2 + 5 1385 c.1086C>T c.(1084-1086)CTC>CTT p.L362L SLC16A7_uc001sqt.2_Silent_p.L362L|SLC16A7_uc001squ.2_Silent_p.L362L|SLC16A7_uc009zqi.2_Silent_p.L263L|SLC16A7_uc010ssi.1_Silent_p.L263L NM_004731 NP_004722 O60669 MOT2_HUMAN solute carrier family 16, member 7 362 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity ovary(1) 1 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) TTGAAACTCTCATGGACCTCG 0.493 104 381 --- --- --- --- PASS FAM19A2 338811 broad.mit.edu 37 12 62148671 62148671 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr12:62148671C>A uc001sqw.2 - 3 1754 c.241G>T c.(241-243)GCT>TCT p.A81S FAM19A2_uc001sqv.2_RNA|FAM19A2_uc001sqx.2_Missense_Mutation_p.A81S|FAM19A2_uc001sqy.2_RNA NM_178539 NP_848634 Q8N3H0 F19A2_HUMAN family with sequence similarity 19 (chemokine 81 cytoplasm ovary(1) 1 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) CATGATGGAGCAGCTCGCGTG 0.498 57 88 --- --- --- --- PASS TRHDE 29953 broad.mit.edu 37 12 72667238 72667238 + Missense_Mutation SNP C G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr12:72667238C>G uc001sxa.2 + 1 710 c.680C>G c.(679-681)GCG>GGG p.A227G LOC283392_uc010stv.1_5'UTR NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 227 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 ACACTGGACGCGCAGAGGAAT 0.567 51 99 --- --- --- --- PASS ZDHHC17 23390 broad.mit.edu 37 12 77191305 77191305 + Missense_Mutation SNP T C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr12:77191305T>C uc001syk.1 + 2 348 c.185T>C c.(184-186)GTC>GCC p.V62A ZDHHC17_uc001syi.1_RNA|ZDHHC17_uc001syj.2_Intron NM_015336 NP_056151 Q8IUH5 ZDH17_HUMAN huntingtin interacting protein 14 62 Cytoplasmic (Potential). lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding 0 TGGGACATAGTCAAGGCTACA 0.353 15 32 --- --- --- --- PASS ZDHHC17 23390 broad.mit.edu 37 12 77239565 77239565 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr12:77239565G>T uc001syk.1 + 13 1569 c.1406G>T c.(1405-1407)TGG>TTG p.W469L NM_015336 NP_056151 Q8IUH5 ZDH17_HUMAN huntingtin interacting protein 14 469 Cytoplasmic (Potential).|DHHC-type. lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding 0 CATTGCCCATGGGTGGGTAAC 0.348 129 40 --- --- --- --- PASS ACSS3 79611 broad.mit.edu 37 12 81545798 81545798 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr12:81545798G>A uc001szl.1 + 7 1112 c.1021G>A c.(1021-1023)GAC>AAC p.D341N ACSS3_uc001szm.1_Missense_Mutation_p.D340N|ACSS3_uc001szn.1_Missense_Mutation_p.D23N NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 341 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 GGCAGCTTCTGACTTAGGCTG 0.328 43 68 --- --- --- --- PASS RASSF9 9182 broad.mit.edu 37 12 86199727 86199727 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr12:86199727C>A uc001taf.1 - 2 400 c.61G>T c.(61-63)GAC>TAC p.D21Y NM_005447 NP_005438 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family 21 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity ovary(1) 1 GAATCCATGTCTTTAGTTGGA 0.393 67 21 --- --- --- --- PASS MGAT4C 25834 broad.mit.edu 37 12 86373487 86373487 + Missense_Mutation SNP A T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr12:86373487A>T uc001tai.3 - 8 2267 c.1017T>A c.(1015-1017)GAT>GAA p.D339E MGAT4C_uc001tal.3_Missense_Mutation_p.D339E|MGAT4C_uc001taj.3_Missense_Mutation_p.D339E|MGAT4C_uc001tak.3_Missense_Mutation_p.D339E|MGAT4C_uc010sum.1_Missense_Mutation_p.D363E|MGAT4C_uc001tah.3_Missense_Mutation_p.D339E NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN alpha-1,3-mannosyl-glycoprotein 339 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(3) 3 CAGGGGGGTTATCAGGAATGT 0.413 83 30 --- --- --- --- PASS EEA1 8411 broad.mit.edu 37 12 93258714 93258714 + Missense_Mutation SNP A C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr12:93258714A>C uc001tck.2 - 3 432 c.167T>G c.(166-168)CTT>CGT p.L56R NM_003566 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1, 162kD 56 C2H2-type. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding ovary(2)|skin(1) 3 ATGTTTGAAAAGTTCATCAGC 0.363 4 115 --- --- --- --- PASS APAF1 317 broad.mit.edu 37 12 99056574 99056574 + Missense_Mutation SNP A T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr12:99056574A>T uc001tfz.2 + 7 1522 c.945A>T c.(943-945)AAA>AAT p.K315N APAF1_uc001tfy.2_Missense_Mutation_p.K304N|APAF1_uc001tga.2_Missense_Mutation_p.K304N|APAF1_uc001tgb.2_Missense_Mutation_p.K315N|APAF1_uc001tgc.2_Missense_Mutation_p.K315N NM_181861 NP_863651 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 isoform 315 NB-ARC. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding ovary(2)|lung(1) 3 Adenosine triphosphate(DB00171) GTATTATAAAAGAATGTAAAG 0.299 49 16 --- --- --- --- PASS CHST11 50515 broad.mit.edu 37 12 105150991 105150991 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr12:105150991G>T uc001tkx.1 + 4 760 c.469G>T c.(469-471)GTC>TTC p.V157F CHST11_uc001tky.2_Missense_Mutation_p.V152F|uc001tkz.2_5'Flank NM_018413 NP_060883 Q9NPF2 CHSTB_HUMAN carbohydrate sulfotransferase 11 157 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity 0 CGAGGCACACGTCTCCGCCAA 0.592 58 19 --- --- --- --- PASS APPL2 55198 broad.mit.edu 37 12 105589265 105589265 + Missense_Mutation SNP T C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr12:105589265T>C uc001tlf.1 - 13 1328 c.1110A>G c.(1108-1110)ATA>ATG p.I370M APPL2_uc010swt.1_Missense_Mutation_p.I327M|APPL2_uc001tlg.1_Missense_Mutation_p.I124M|APPL2_uc010swu.1_Missense_Mutation_p.I376M|APPL2_uc009zuq.2_Missense_Mutation_p.I327M NM_018171 NP_060641 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH 370 Required for RAB5A binding (By similarity).|PH. cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding upper_aerodigestive_tract(1) 1 AGATGTTGTTTATTGCACATA 0.433 36 106 --- --- --- --- PASS BRAP 8315 broad.mit.edu 37 12 112082156 112082156 + Silent SNP T A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr12:112082156T>A uc001tsn.3 - 12 1820 c.1626A>T c.(1624-1626)ACA>ACT p.T542T BRAP_uc010syh.1_Silent_p.T363T|BRAP_uc009zvv.2_Silent_p.T512T NM_006768 NP_006759 Q7Z569 BRAP_HUMAN BRCA1 associated protein 542 MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding lung(1) 1 TCTTCTGCTGTGTCTCCAGGT 0.577 97 27 --- --- --- --- PASS ACADS 35 broad.mit.edu 37 12 121176366 121176366 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr12:121176366G>C uc001tza.3 + 7 944 c.826G>C c.(826-828)GCC>CCC p.A276P ACADS_uc010szl.1_Missense_Mutation_p.A272P|ACADS_uc001tzb.3_Intron NM_000017 NP_000008 P16219 ACADS_HUMAN short-chain acyl-CoA dehydrogenase precursor 276 mitochondrial matrix butyryl-CoA dehydrogenase activity central_nervous_system(2) 2 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) Lung NSC(355;0.163) NADH(DB00157) CATCGGCATCGCCTCCCAGGC 0.697 54 18 --- --- --- --- PASS OGFOD2 79676 broad.mit.edu 37 12 123463026 123463026 + Silent SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr12:123463026G>T uc001uea.1 + 5 462 c.441G>T c.(439-441)GCG>GCT p.A147A OGFOD2_uc001uds.1_5'UTR|OGFOD2_uc001udt.1_5'UTR|OGFOD2_uc001udu.1_5'UTR|OGFOD2_uc001udv.1_5'UTR|OGFOD2_uc009zxs.1_5'UTR|OGFOD2_uc001udw.1_5'UTR|OGFOD2_uc001udx.1_5'UTR|OGFOD2_uc001udy.1_5'UTR|OGFOD2_uc001udz.1_Silent_p.A87A|OGFOD2_uc010tak.1_3'UTR|OGFOD2_uc001ueb.1_5'UTR|ARL6IP4_uc001uec.2_5'Flank|ARL6IP4_uc001ued.2_5'Flank|ARL6IP4_uc001uee.2_5'Flank|ARL6IP4_uc001uef.2_5'Flank|ARL6IP4_uc001ueg.2_5'Flank|ARL6IP4_uc009zxt.2_5'Flank|ARL6IP4_uc001ueh.2_5'Flank|ARL6IP4_uc001uei.2_5'Flank NM_024623 NP_078899 Q6N063 OGFD2_HUMAN 2-oxoglutarate and iron-dependent oxygenase 147 iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen pancreas(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107) Vitamin C(DB00126) TTTTCACAGCGCCCTTCTGCC 0.502 74 16 --- --- --- --- PASS CDK8 1024 broad.mit.edu 37 13 26956958 26956958 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr13:26956958C>T uc001uqr.1 + 5 490 c.464C>T c.(463-465)GCT>GTT p.A155V CDK8_uc001uqs.1_Missense_Mutation_p.A155V|CDK8_uc001uqt.1_Intron NM_001260 NP_001251 P49336 CDK8_HUMAN cyclin-dependent kinase 8 155 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|large_intestine(1)|ovary(1)|skin(1) 5 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) CAGAAACCTGCTAATATTTTA 0.313 85 40 --- --- --- --- PASS MTIF3 219402 broad.mit.edu 37 13 28014513 28014513 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr13:28014513C>A uc001urh.2 - 1 1297 c.73G>T c.(73-75)GGT>TGT p.G25C MTIF3_uc001uri.2_Missense_Mutation_p.G25C|MTIF3_uc001urj.2_Missense_Mutation_p.G25C|MTIF3_uc001urk.2_Missense_Mutation_p.G25C NM_152912 NP_690876 Q9H2K0 IF3M_HUMAN mitochondrial translational initiation factor 3 25 regulation of translational initiation|ribosome disassembly mitochondrion ribosomal small subunit binding|translation initiation factor activity ovary(1)|skin(1) 2 Lung SC(185;0.0161) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157) ATGTGTTTACCAAAACATCTA 0.403 83 20 --- --- --- --- PASS FLT3 2322 broad.mit.edu 37 13 28588631 28588631 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr13:28588631C>A uc001urw.2 - 23 2899 c.2817G>T c.(2815-2817)TTG>TTT p.L939F FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.L898F NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 939 Protein kinase.|Cytoplasmic (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) AAAACGAAGTCAAATTAGGGA 0.393 Mis|O AML|ALL 134 20 --- --- --- --- PASS FRY 10129 broad.mit.edu 37 13 32813925 32813925 + Silent SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr13:32813925G>A uc001utx.2 + 46 7090 c.6594G>A c.(6592-6594)ACG>ACA p.T2198T FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 2198 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) ACAGCTACACGAGGGACTGTG 0.398 58 56 --- --- --- --- PASS TRPC4 7223 broad.mit.edu 37 13 38237841 38237841 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr13:38237841G>A uc001uws.2 - 6 1635 c.1400C>T c.(1399-1401)TCA>TTA p.S467L TRPC4_uc010abv.2_Missense_Mutation_p.S47L|TRPC4_uc001uwt.2_Missense_Mutation_p.S467L|TRPC4_uc010tey.1_Missense_Mutation_p.S467L|TRPC4_uc010abw.2_Missense_Mutation_p.S294L|TRPC4_uc010abx.2_Missense_Mutation_p.S467L|TRPC4_uc010aby.2_Missense_Mutation_p.S467L NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 467 Extracellular (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CATGTCCCATGATTCTCGTGG 0.423 71 5 --- --- --- --- PASS FREM2 341640 broad.mit.edu 37 13 39262581 39262581 + Missense_Mutation SNP A G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr13:39262581A>G uc001uwv.2 + 1 1409 c.1100A>G c.(1099-1101)CAG>CGG p.Q367R NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 367 CSPG 1.|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) CAGCCTGGCCAGGGCTACTTG 0.582 92 18 --- --- --- --- PASS PCDH17 27253 broad.mit.edu 37 13 58206787 58206787 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr13:58206787G>T uc001vhq.1 + 1 999 c.107G>T c.(106-108)GGG>GTG p.G36V PCDH17_uc010aec.1_Missense_Mutation_p.G36V NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 36 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) ACGGTGATCGGGAACATCGGC 0.642 21 9 --- --- --- --- PASS KLHL1 57626 broad.mit.edu 37 13 70281777 70281777 + Nonsense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr13:70281777G>A uc001vip.2 - 10 2961 c.2167C>T c.(2167-2169)CAA>TAA p.Q723* KLHL1_uc010thm.1_Nonsense_Mutation_p.Q662* NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 723 Kelch 6. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TCATTAGTTTGTGGGTCATAG 0.413 122 44 --- --- --- --- PASS SCEL 8796 broad.mit.edu 37 13 78146272 78146272 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr13:78146272C>T uc001vki.2 + 9 663 c.493C>T c.(493-495)CCA>TCA p.P165S SCEL_uc001vkj.2_Missense_Mutation_p.P165S|SCEL_uc010thx.1_Intron NM_144777 NP_659001 O95171 SCEL_HUMAN sciellin isoform 1 165 embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding ovary(4)|breast(1) 5 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) GTCCTGGTTTCCACCGCCCCC 0.463 27 34 --- --- --- --- PASS EFNB2 1948 broad.mit.edu 37 13 107145427 107145427 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr13:107145427C>A uc001vqi.2 - 5 988 c.963G>T c.(961-963)ATG>ATT p.M321I NM_004093 NP_004084 P52799 EFNB2_HUMAN ephrin B2 precursor 321 Cytoplasmic (Potential). cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development integral to plasma membrane ephrin receptor binding ovary(1) 1 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) TCTGCGGGGGCATCTCCTGGA 0.587 113 26 --- --- --- --- PASS COL4A2 1284 broad.mit.edu 37 13 111111202 111111202 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr13:111111202G>T uc001vqx.2 + 22 1806 c.1517G>T c.(1516-1518)GGC>GTC p.G506V NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 506 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GGCTTCGCAGGCATCAACGGG 0.612 31 127 --- --- --- --- PASS ADCY4 196883 broad.mit.edu 37 14 24788955 24788955 + Missense_Mutation SNP A G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr14:24788955A>G uc001wov.2 - 21 2732 c.2726T>C c.(2725-2727)TTT>TCT p.F909S ADCY4_uc001wow.2_Missense_Mutation_p.F909S|ADCY4_uc010toh.1_Missense_Mutation_p.F595S|ADCY4_uc001wox.2_Missense_Mutation_p.F909S|ADCY4_uc001woy.2_Missense_Mutation_p.F909S NM_139247 NP_640340 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 909 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding ovary(1)|lung(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(265;0.0192) CACCTCATCAAAATCAGCAAT 0.448 66 21 --- --- --- --- PASS FANCM 57697 broad.mit.edu 37 14 45623899 45623899 + Splice_Site SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr14:45623899G>T uc001wwd.3 + 7 1283 c.1184_splice c.e7-1 p.G395_splice FANCM_uc001wwc.2_Splice_Site_p.G395_splice|FANCM_uc010anf.2_Splice_Site_p.G369_splice|FANCM_uc001wwe.3_5'Flank NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 AATTTCTGAAGGGATGACACG 0.264 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 37 24 --- --- --- --- PASS RPL10L 140801 broad.mit.edu 37 14 47120507 47120507 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr14:47120507C>T uc001wwg.2 - 1 522 c.433G>A c.(433-435)GAG>AAG p.E145K NM_080746 NP_542784 Q96L21 RL10L_HUMAN ribosomal protein L10-like protein 145 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome ovary(1) 1 ACATGCTCCTCGTTCTGAAGC 0.527 33 69 --- --- --- --- PASS NIN 51199 broad.mit.edu 37 14 51239056 51239056 + Missense_Mutation SNP T G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr14:51239056T>G uc001wym.2 - 9 1135 c.944A>C c.(943-945)CAG>CCG p.Q315P NIN_uc001wyi.2_Missense_Mutation_p.Q315P|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.Q315P|NIN_uc010tqp.1_Missense_Mutation_p.Q321P|NIN_uc001wyo.2_Missense_Mutation_p.Q315P|NIN_uc001wyp.1_Missense_Mutation_p.Q277P NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 315 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) GCCCTCTTCCTGCCAGGTGTC 0.463 T PDGFRB MPD 58 15 --- --- --- --- PASS NID2 22795 broad.mit.edu 37 14 52496265 52496265 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr14:52496265C>A uc001wzo.2 - 10 2635 c.2401G>T c.(2401-2403)GAT>TAT p.D801Y NID2_uc010tqs.1_Missense_Mutation_p.D801Y|NID2_uc010tqt.1_Missense_Mutation_p.D801Y|NID2_uc001wzp.2_Missense_Mutation_p.D801Y NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 801 EGF-like 3; calcium-binding (Potential). basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) TGGCTCTTACCCACACAGTTC 0.517 111 40 --- --- --- --- PASS NID2 22795 broad.mit.edu 37 14 52496266 52496266 + Silent SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr14:52496266C>A uc001wzo.2 - 10 2634 c.2400G>T c.(2398-2400)GTG>GTT p.V800V NID2_uc010tqs.1_Silent_p.V800V|NID2_uc010tqt.1_Silent_p.V800V|NID2_uc001wzp.2_Silent_p.V800V NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 800 EGF-like 2. basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) GGCTCTTACCCACACAGTTCC 0.522 111 40 --- --- --- --- PASS ARID4A 5926 broad.mit.edu 37 14 58831249 58831249 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr14:58831249G>T uc001xdp.2 + 20 2696 c.2442G>T c.(2440-2442)CAG>CAT p.Q814H ARID4A_uc001xdo.2_Missense_Mutation_p.Q814H|ARID4A_uc001xdq.2_Missense_Mutation_p.Q814H|ARID4A_uc010apg.1_Missense_Mutation_p.Q492H NM_002892 NP_002883 P29374 ARI4A_HUMAN retinoblastoma-binding protein 1 isoform I 814 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|lung(1) 6 CATTTGGCCAGAATGAAGCAG 0.338 99 35 --- --- --- --- PASS KCNK10 54207 broad.mit.edu 37 14 88652366 88652366 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr14:88652366C>T uc001xwo.2 - 7 1587 c.1130G>A c.(1129-1131)CGC>CAC p.R377H KCNK10_uc001xwm.2_Missense_Mutation_p.R382H|KCNK10_uc001xwn.2_Missense_Mutation_p.R382H NM_021161 NP_066984 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 377 Cytoplasmic (Potential). signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(2)|pancreas(1) 5 CAGCCGCCGGCGCTCCATGCT 0.672 20 9 --- --- --- --- PASS KCNK10 54207 broad.mit.edu 37 14 88654444 88654444 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr14:88654444G>C uc001xwo.2 - 6 1320 c.863C>G c.(862-864)GCT>GGT p.A288G KCNK10_uc001xwm.2_Missense_Mutation_p.A293G|KCNK10_uc001xwn.2_Missense_Mutation_p.A293G NM_021161 NP_066984 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 288 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(2)|pancreas(1) 5 ATTGATGCCAGCGTTTCCCCC 0.448 159 47 --- --- --- --- PASS KCNK10 54207 broad.mit.edu 37 14 88658601 88658601 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr14:88658601G>C uc001xwo.2 - 5 1277 c.820C>G c.(820-822)CTG>GTG p.L274V KCNK10_uc001xwm.2_Missense_Mutation_p.L279V|KCNK10_uc001xwn.2_Missense_Mutation_p.L279V NM_021161 NP_066984 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 274 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(2)|pancreas(1) 5 ACCGTGGTCAGAGTGACCACC 0.542 117 34 --- --- --- --- PASS CATSPERB 79820 broad.mit.edu 37 14 92105570 92105570 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr14:92105570C>T uc001xzs.1 - 16 1597 c.1457G>A c.(1456-1458)GGA>GAA p.G486E CATSPERB_uc010aub.1_Missense_Mutation_p.G8E NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN cation channel, sperm-associated, beta 486 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(2)|skin(2)|ovary(1) 5 all_cancers(154;0.0663)|all_epithelial(191;0.236) AGTAACACTTCCGACTGCACT 0.398 78 26 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 107083436 107083436 + RNA SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr14:107083436G>T uc010tyt.1 - 113 c.5357C>A Parts of antibodies, mostly variable regions. 0 GGGGCTGCCGGATCCAGCTCC 0.572 38 110 --- --- --- --- PASS APBA2 321 broad.mit.edu 37 15 29390704 29390704 + Silent SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr15:29390704G>T uc001zck.2 + 8 1470 c.1263G>T c.(1261-1263)GGG>GGT p.G421G APBA2_uc010azj.2_Silent_p.G409G|APBA2_uc010uat.1_Silent_p.G409G|APBA2_uc001zcl.2_Silent_p.G409G|APBA2_uc001zcm.1_Silent_p.G113G NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 421 PID. nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) ATTCTGAGGGGGATGCCCAGA 0.358 43 21 --- --- --- --- PASS EXD1 161829 broad.mit.edu 37 15 41476288 41476288 + Silent SNP T C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr15:41476288T>C uc001znk.2 - 10 1577 c.1386A>G c.(1384-1386)ACA>ACG p.T462T EXD1_uc001znj.2_Silent_p.T260T|EXD1_uc010ucv.1_Silent_p.T520T NM_152596 NP_689809 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 462 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding ovary(1) 1 CAGCCTGTTTTGTGCATTTTA 0.398 147 61 --- --- --- --- PASS MIR626 693211 broad.mit.edu 37 15 41983842 41983842 + RNA SNP C G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr15:41983842C>G hsa-mir-626|MI0003640 + c.60C>G MGA_uc001zog.1_Intron|MGA_uc010ucy.1_Intron|MGA_uc010ucz.1_Intron 0 TGAATGATCTCAGCtgtctga 0.045 46 84 --- --- --- --- PASS SLC12A1 6557 broad.mit.edu 37 15 48548078 48548078 + Silent SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr15:48548078C>A uc001zwn.3 + 16 2229 c.2013C>A c.(2011-2013)ACC>ACA p.T671T SLC12A1_uc010uew.1_Silent_p.T477T|SLC12A1_uc010bem.2_Silent_p.T671T|SLC12A1_uc001zwq.3_Silent_p.T442T|SLC12A1_uc001zwr.3_Silent_p.T398T NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 671 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) TGGAATTAACCACAGTGGAAG 0.458 9 9 --- --- --- --- PASS MYO5A 4644 broad.mit.edu 37 15 52659257 52659257 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr15:52659257C>T uc002aby.2 - 23 3375 c.3131G>A c.(3130-3132)CGC>CAC p.R1044H MYO5A_uc002abx.3_Missense_Mutation_p.R1044H|MYO5A_uc010uge.1_Missense_Mutation_p.R913H NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 1044 Potential. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|central_nervous_system(1) 4 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) CTGCACGATGCGGTGATTGAG 0.403 4 211 --- --- --- --- PASS MYO9A 4649 broad.mit.edu 37 15 72192182 72192182 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr15:72192182G>T uc002atl.3 - 24 3789 c.3316C>A c.(3316-3318)CAG>AAG p.Q1106K MYO9A_uc010biq.2_Missense_Mutation_p.Q726K|MYO9A_uc002atn.1_Missense_Mutation_p.Q1087K|MYO9A_uc002atk.2_5'Flank|MYO9A_uc002atm.1_5'Flank NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 1106 Neck or regulatory domain. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 CTCCATTTCTGCTGGATAACG 0.493 88 26 --- --- --- --- PASS LINGO1 84894 broad.mit.edu 37 15 77907685 77907685 + Silent SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr15:77907685G>A uc002bct.1 - 2 616 c.564C>T c.(562-564)AGC>AGT p.S188S LINGO1_uc002bcu.1_Silent_p.S182S NM_032808 NP_116197 Q96FE5 LIGO1_HUMAN leucine-rich repeat neuronal 6A 188 Extracellular (Potential).|LRR 5. negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane ovary(1)|lung(1) 2 TGTTGAGGCCGCTGAAGGCGC 0.582 120 21 --- --- --- --- PASS AKAP13 11214 broad.mit.edu 37 15 86124126 86124126 + Missense_Mutation SNP T C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr15:86124126T>C uc002blv.1 + 7 2997 c.2827T>C c.(2827-2829)TCT>CCT p.S943P AKAP13_uc002blt.1_Missense_Mutation_p.S943P|AKAP13_uc002blu.1_Missense_Mutation_p.S943P|AKAP13_uc010bne.1_5'Flank NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 943 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 AAATGCTCTCTCTTCAGGAAC 0.433 73 178 --- --- --- --- PASS ACSM2A 123876 broad.mit.edu 37 16 20477012 20477012 + Silent SNP T A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr16:20477012T>A uc010bwe.2 + 4 590 c.351T>A c.(349-351)CCT>CCA p.P117P ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Silent_p.P38P|ACSM2A_uc002dhf.3_Silent_p.P117P|ACSM2A_uc002dhg.3_Silent_p.P117P|ACSM2A_uc010vay.1_Silent_p.P38P NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 117 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 CCCGAGTGCCTGAGTGGTGGC 0.572 29 14 --- --- --- --- PASS DNAH3 55567 broad.mit.edu 37 16 20998633 20998633 + Missense_Mutation SNP T C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr16:20998633T>C uc010vbe.1 - 47 7020 c.7020A>G c.(7018-7020)ATA>ATG p.I2340M DNAH3_uc010vbd.1_5'Flank NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2340 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) TTACCTTCTCTATGGTCTGCT 0.428 185 71 --- --- --- --- PASS TOX3 27324 broad.mit.edu 37 16 52484312 52484312 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr16:52484312C>A uc002egw.2 - 4 726 c.555G>T c.(553-555)CAG>CAT p.Q185H TOX3_uc010vgt.1_Missense_Mutation_p.Q180H|TOX3_uc010vgu.1_Missense_Mutation_p.Q185H NM_001080430 NP_001073899 O15405 TOX3_HUMAN TOX high mobility group box family member 3 185 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity 0 TCAACCCCAACTGGGCGCTGA 0.572 54 183 --- --- --- --- PASS RBL2 5934 broad.mit.edu 37 16 53515706 53515706 + Silent SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr16:53515706C>A uc002ehi.3 + 21 3326 c.3208C>A c.(3208-3210)CGA>AGA p.R1070R RBL2_uc002ehj.2_Silent_p.R780R|RBL2_uc010vgw.1_Silent_p.R449R NM_005611 NP_005602 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 1070 cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 GCTTTCTCCTCGAGAAAAGAT 0.398 93 75 --- --- --- --- PASS FTO 79068 broad.mit.edu 37 16 53878072 53878072 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr16:53878072G>C uc002ehr.2 + 4 979 c.757G>C c.(757-759)GAA>CAA p.E253Q FTO_uc010vha.1_5'UTR NM_001080432 NP_001073901 Q9C0B1 FTO_HUMAN fat mass and obesity associated 253 Fe2OG dioxygenase domain. DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair nucleus DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 GGCAGGCCCTGAAGAGGAAAG 0.343 31 88 --- --- --- --- PASS AMFR 267 broad.mit.edu 37 16 56403212 56403212 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr16:56403212G>C uc002eiy.2 - 11 1613 c.1408C>G c.(1408-1410)CAG>GAG p.Q470E AMFR_uc002eix.2_Missense_Mutation_p.Q104E NM_001144 NP_001135 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor 470 CUE. endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding breast(2) 2 TATGGAACCTGGGGAAACATC 0.443 80 72 --- --- --- --- PASS ATP6V0D1 9114 broad.mit.edu 37 16 67472472 67472472 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr16:67472472G>A uc002ete.1 - 8 1115 c.1015C>T c.(1015-1017)CGC>TGC p.R339C ATP6V0D1_uc010vjo.1_Missense_Mutation_p.R380C|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.R262C NM_004691 NP_004682 P61421 VA0D1_HUMAN ATPase, H+ transporting, lysosomal, V0 subunit 339 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101) GCGCGGTGGCGCTGGGCGATA 0.458 30 68 --- --- --- --- PASS MARVELD3 91862 broad.mit.edu 37 16 71674923 71674923 + Missense_Mutation SNP C G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr16:71674923C>G uc002fau.2 + 3 1289 c.1226C>G c.(1225-1227)ACT>AGT p.T409S PHLPP2_uc002fav.2_RNA|MARVELD3_uc010cge.2_3'UTR NM_001017967 NP_001017967 Q96A59 MALD3_HUMAN MARVEL domain containing 3 isoform 1 Error:Variant_position_missing_in_Q96A59_after_alignment integral to membrane skin(1) 1 Ovarian(137;0.125) TGGTCTGGAACTCTTTGAGAT 0.473 11 46 --- --- --- --- PASS ANKRD11 29123 broad.mit.edu 37 16 89347559 89347559 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr16:89347559C>A uc002fmx.1 - 9 5852 c.5391G>T c.(5389-5391)AGG>AGT p.R1797S ANKRD11_uc002fmy.1_Missense_Mutation_p.R1797S|ANKRD11_uc002fnc.1_Missense_Mutation_p.R1797S|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.R1754S NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1797 nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CCTCGGGGGTCCTCCTAATGT 0.592 32 94 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578271 7578271 + Missense_Mutation SNP T A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr17:7578271T>A uc002gim.2 - 6 772 c.578A>T c.(577-579)CAT>CTT p.H193L TP53_uc002gig.1_Missense_Mutation_p.H193L|TP53_uc002gih.2_Missense_Mutation_p.H193L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H61L|TP53_uc010cng.1_Missense_Mutation_p.H61L|TP53_uc002gii.1_Missense_Mutation_p.H61L|TP53_uc010cnh.1_Missense_Mutation_p.H193L|TP53_uc010cni.1_Missense_Mutation_p.H193L|TP53_uc002gij.2_Missense_Mutation_p.H193L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100L|TP53_uc002gio.2_Missense_Mutation_p.H61L|TP53_uc010vug.1_Missense_Mutation_p.H154L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 193 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). H -> D (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H193R(67)|p.H193L(31)|p.H193Y(26)|p.H193P(12)|p.0?(7)|p.H193D(7)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.H193H(2)|p.P191fs*53(2)|p.K164_P219del(1)|p.P191fs*15(1)|p.P191fs*6(1)|p.H100L(1)|p.H61L(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.A189fs*53(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) TCGGATAAGATGCTGAGGAGG 0.562 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 54 16 --- --- --- --- PASS KDM6B 23135 broad.mit.edu 37 17 7751547 7751547 + Silent SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr17:7751547C>T uc002giw.1 + 11 2317 c.1941C>T c.(1939-1941)GGC>GGT p.G647G KDM6B_uc002gix.2_5'UTR NM_001080424 NP_001073893 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 647 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|pancreas(1) 2 CACCCCCAGGCCCCCTGAGTA 0.701 15 39 --- --- --- --- PASS KRBA2 124751 broad.mit.edu 37 17 8274697 8274697 + Silent SNP A G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr17:8274697A>G uc002glf.1 - 1 162 c.156T>C c.(154-156)TAT>TAC p.Y52Y KRBA2_uc002glg.1_Intron NM_213597 NP_998762 Q6ZNG9 KRBA2_HUMAN KRAB-A domain containing 2 52 KRAB. DNA integration|regulation of transcription, DNA-dependent intracellular DNA binding 0 AGCCTTCTAAATAATTCCAAT 0.438 80 154 --- --- --- --- PASS MYH4 4622 broad.mit.edu 37 17 10346825 10346825 + Missense_Mutation SNP T C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr17:10346825T>C uc002gmn.2 - 40 5798 c.5687A>G c.(5686-5688)AAC>AGC p.N1896S uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1896 Potential. 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 CTTGGCAAGGTTGACATTGGA 0.468 84 42 --- --- --- --- PASS MYH1 4619 broad.mit.edu 37 17 10400625 10400625 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr17:10400625G>C uc002gmo.2 - 32 4604 c.4510C>G c.(4510-4512)CGG>GGG p.R1504G uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1504 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TTATTTTCCCGTTTCAAGGTT 0.308 65 28 --- --- --- --- PASS CRLF3 51379 broad.mit.edu 37 17 29131049 29131049 + Silent SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr17:29131049G>C uc002hfr.3 - 2 316 c.207C>G c.(205-207)CTC>CTG p.L69L CRLF3_uc010wbr.1_Intron NM_015986 NP_057070 Q8IUI8 CRLF3_HUMAN cytokine receptor-like factor 3 69 negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter cytoplasm 0 all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255) GCTCATCCAGGAGCTTTCCAA 0.413 155 131 --- --- --- --- PASS RHOT1 55288 broad.mit.edu 37 17 30510218 30510218 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr17:30510218C>T uc002hgz.2 + 8 706 c.467C>T c.(466-468)TCA>TTA p.S156L RHOT1_uc002hgw.2_Missense_Mutation_p.S156L|RHOT1_uc002hgy.2_Missense_Mutation_p.S156L|RHOT1_uc002hha.2_Missense_Mutation_p.S29L|RHOT1_uc010csv.2_RNA|RHOT1_uc002hgx.2_Missense_Mutation_p.S29L|RHOT1_uc010wby.1_Missense_Mutation_p.S156L|RHOT1_uc002hhb.2_Missense_Mutation_p.S135L|RHOT1_uc002hgv.2_Missense_Mutation_p.S156L NM_018307 NP_060777 Q8IXI2 MIRO1_HUMAN ras homolog gene family, member T1 isoform 3 156 Miro 1.|Mitochondrial intermembrane (Potential). apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding ovary(3)|central_nervous_system(1) 4 Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182) AAGAACATATCAGAGCTCTTT 0.383 114 91 --- --- --- --- PASS TMEM132E 124842 broad.mit.edu 37 17 32961955 32961955 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr17:32961955C>A uc002hif.2 + 8 1884 c.1556C>A c.(1555-1557)ACT>AAT p.T519N NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 519 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) TCCGAGGGCACTGACCAGGTG 0.632 67 61 --- --- --- --- PASS C17orf66 256957 broad.mit.edu 37 17 34185444 34185444 + Missense_Mutation SNP A G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr17:34185444A>G uc002hke.1 - 10 1174 c.1025T>C c.(1024-1026)GTC>GCC p.V342A C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Missense_Mutation_p.V302A|C17orf66_uc010wcm.1_Missense_Mutation_p.V308A NM_152781 NP_689994 A2RTY3 CQ066_HUMAN hypothetical protein LOC256957 342 binding breast(2)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) TACCTCAAGGACACTGGAAGA 0.547 43 44 --- --- --- --- PASS SYNRG 11276 broad.mit.edu 37 17 35931928 35931928 + Nonsense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr17:35931928C>A uc002hoa.2 - 9 1143 c.1060G>T c.(1060-1062)GAA>TAA p.E354* SYNRG_uc010wde.1_Nonsense_Mutation_p.E276*|SYNRG_uc010wdf.1_Nonsense_Mutation_p.E276*|SYNRG_uc002hoc.2_Nonsense_Mutation_p.E275*|SYNRG_uc002hoe.2_Nonsense_Mutation_p.E276*|SYNRG_uc002hod.2_Nonsense_Mutation_p.E276*|SYNRG_uc010wdg.1_Nonsense_Mutation_p.E276*|SYNRG_uc002hob.2_Nonsense_Mutation_p.E354*|SYNRG_uc002hof.2_Nonsense_Mutation_p.E66*|SYNRG_uc010cvd.1_Nonsense_Mutation_p.E154*|SYNRG_uc002hog.1_Nonsense_Mutation_p.E488*|SYNRG_uc010wdh.1_3'UTR NM_007247 NP_009178 Q9UMZ2 SYNRG_HUMAN synergin, gamma isoform 1 354 EH. endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding ovary(2) 2 GTATAAAGTTCTTCTTTTGTA 0.373 84 67 --- --- --- --- PASS SRCIN1 80725 broad.mit.edu 37 17 36708245 36708245 + Silent SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr17:36708245C>A uc002hqd.2 - 14 2829 c.2604G>T c.(2602-2604)CCG>CCT p.P868P SRCIN1_uc002hqf.1_Silent_p.P740P|SRCIN1_uc002hqe.2_Silent_p.P722P|SRCIN1_uc002hqg.2_Silent_p.P174P NM_025248 NP_079524 Q9C0H9 SRCN1_HUMAN SNAP25-interacting protein 740 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding 0 GCAGGTTCAGCGGGGGGCTGG 0.617 27 84 --- --- --- --- PASS KRT20 54474 broad.mit.edu 37 17 39038830 39038830 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr17:39038830C>T uc002hvl.2 - 2 509 c.467G>A c.(466-468)AGA>AAA p.R156K NM_019010 NP_061883 P35900 K1C20_HUMAN keratin 20 156 Coil 1B.|Rod. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton large_intestine(1)|kidney(1)|skin(1) 3 Breast(137;0.000301)|Ovarian(249;0.15) CTACTTCAGTCTGAAGTCCTC 0.393 83 110 --- --- --- --- PASS KRT16 3868 broad.mit.edu 37 17 39768815 39768815 + Silent SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr17:39768815G>T uc002hxg.3 - 1 265 c.126C>A c.(124-126)GCC>GCA p.A42A JUP_uc010wfs.1_Intron NM_005557 NP_005548 P08779 K1C16_HUMAN keratin 16 42 Head. RAP -> PA (in Ref. 1; AAA59460). cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton skin(1) 1 Breast(137;0.000307) AGGTGCTGGGGGCACGGCAGG 0.721 3 6 --- --- --- --- PASS AOC3 8639 broad.mit.edu 37 17 41004563 41004563 + Silent SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr17:41004563G>T uc002ibv.2 + 1 1363 c.1203G>T c.(1201-1203)GGG>GGT p.G401G NM_003734 NP_003725 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 precursor 401 Extracellular (Potential). amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity central_nervous_system(2)|ovary(1)|skin(1) 4 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) TGACCCGTGGGGTGGACTGCC 0.567 57 86 --- --- --- --- PASS DHX8 1659 broad.mit.edu 37 17 41577356 41577356 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr17:41577356G>C uc002idu.1 + 11 1504 c.1431G>C c.(1429-1431)ATG>ATC p.M477I DHX8_uc010wif.1_Missense_Mutation_p.M386I|DHX8_uc010wig.1_Missense_Mutation_p.M477I NM_004941 NP_004932 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 477 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1)|pancreas(1) 4 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) AAGCAGCAATGATGCAGAGTG 0.488 168 565 --- --- --- --- PASS SOST 50964 broad.mit.edu 37 17 41832873 41832873 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr17:41832873C>T uc002iec.1 - 2 526 c.479G>A c.(478-480)CGC>CAC p.R160H NM_025237 NP_079513 Q9BQB4 SOST_HUMAN sclerostin precursor 160 CTCK. negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway heparin binding|protein binding 0 Breast(137;0.00725) UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741) GGCCACCAGGCGCACCTTGCG 0.721 12 42 --- --- --- --- PASS TANC2 26115 broad.mit.edu 37 17 61492927 61492927 + Nonsense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr17:61492927C>A uc002jal.3 + 23 3830 c.3807C>A c.(3805-3807)TAC>TAA p.Y1269* TANC2_uc010wpe.1_Nonsense_Mutation_p.Y1179*|TANC2_uc002jao.3_Nonsense_Mutation_p.Y380* NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and 1269 TPR 1. binding ovary(2) 2 GCTACCAGTACGCCCTGAAGA 0.512 41 42 --- --- --- --- PASS MAP3K3 4215 broad.mit.edu 37 17 61767648 61767648 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr17:61767648G>T uc002jbg.2 + 12 1407 c.1088G>T c.(1087-1089)CGC>CTC p.R363L MAP3K3_uc002jbe.2_Missense_Mutation_p.R394L|MAP3K3_uc002jbf.2_Missense_Mutation_p.R394L|MAP3K3_uc002jbh.2_Missense_Mutation_p.R390L|MAP3K3_uc010wpo.1_Missense_Mutation_p.R278L|MAP3K3_uc010wpp.1_Missense_Mutation_p.R359L NM_002401 NP_002392 Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 363 Protein kinase. MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1) 6 ATCAACTGGCGCCGGGGAAAG 0.517 4 233 --- --- --- --- PASS ABCA10 10349 broad.mit.edu 37 17 67197667 67197667 + Silent SNP T C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr17:67197667T>C uc010dfa.1 - 11 2028 c.1149A>G c.(1147-1149)CCA>CCG p.P383P ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_5'UTR|ABCA10_uc010dfc.1_Intron NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 383 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) CATGGAATTCTGGAGACACCG 0.353 58 60 --- --- --- --- PASS GPR142 350383 broad.mit.edu 37 17 72368690 72368690 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr17:72368690C>A uc010wqy.1 + 4 1340 c.1340C>A c.(1339-1341)GCG>GAG p.A447E GPR142_uc010wqx.1_Missense_Mutation_p.A359E NM_181790 NP_861455 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 447 Cytoplasmic (Potential). cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 GGCATGGCGGCGAAGCCTGTG 0.617 5 39 --- --- --- --- PASS USP36 57602 broad.mit.edu 37 17 76817074 76817074 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr17:76817074C>A uc002jvz.1 - 8 1152 c.827G>T c.(826-828)CGG>CTG p.R276L USP36_uc002jwa.1_Missense_Mutation_p.R276L|USP36_uc002jwc.1_5'UTR NM_025090 NP_079366 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 276 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) GATCTGTACCCGGATCTCCAG 0.547 14 12 --- --- --- --- PASS EPB41L3 23136 broad.mit.edu 37 18 5394784 5394784 + Silent SNP A C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr18:5394784A>C uc002kmt.1 - 22 3248 c.3162T>G c.(3160-3162)GCT>GCG p.A1054A EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Silent_p.A832A|EPB41L3_uc010dkq.1_Silent_p.A723A|EPB41L3_uc002kms.1_Silent_p.A289A|EPB41L3_uc010wze.1_Silent_p.A359A|EPB41L3_uc010wzf.1_Silent_p.A351A|EPB41L3_uc010wzg.1_Silent_p.A326A|EPB41L3_uc010dkr.2_Silent_p.A446A NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 1054 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 TAATTGCCTGAGCCAGCGCCT 0.483 64 32 --- --- --- --- PASS CEP192 55125 broad.mit.edu 37 18 13049582 13049582 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr18:13049582G>C uc010xac.1 + 16 2872 c.2792G>C c.(2791-2793)AGA>ACA p.R931T CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.R456T|CEP192_uc002kru.2_RNA|CEP192_uc002krs.1_Missense_Mutation_p.R672T NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 931 ovary(4)|pancreas(1) 5 CGAGATAACAGAGAAAATCAG 0.383 123 36 --- --- --- --- PASS MC2R 4158 broad.mit.edu 37 18 13884819 13884819 + Silent SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr18:13884819G>T uc002ksp.1 - 2 876 c.699C>A c.(697-699)GCC>GCA p.A233A NM_000529 NP_000520 Q01718 ACTHR_HUMAN melanocortin 2 receptor 233 Helical; Name=6; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding ovary(4)|skin(1) 5 Corticotropin(DB01285)|Cosyntropin(DB01284) GCACAAAGGGGGCCCAGCAGA 0.547 71 22 --- --- --- --- PASS LAMA3 3909 broad.mit.edu 37 18 21501541 21501541 + Silent SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr18:21501541C>T uc002kuq.2 + 62 8255 c.8169C>T c.(8167-8169)ATC>ATT p.I2723I LAMA3_uc002kur.2_Silent_p.I2667I|LAMA3_uc002kus.3_Silent_p.I1114I|LAMA3_uc002kut.3_Silent_p.I1058I NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 2723 Laminin G-like 2. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAATTGCAATCAGGGAAAGGT 0.333 68 659 --- --- --- --- PASS CCDC102B 79839 broad.mit.edu 37 18 66504591 66504591 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr18:66504591G>T uc002lkk.2 + 4 814 c.591G>T c.(589-591)GAG>GAT p.E197D CCDC102B_uc002lki.2_Missense_Mutation_p.E197D|CCDC102B_uc002lkj.1_Missense_Mutation_p.E197D NM_001093729 NP_001087198 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 197 ovary(1)|lung(1)|skin(1) 3 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) CTACAAAGGAGGACACAAATA 0.348 101 42 --- --- --- --- PASS CCDC102B 79839 broad.mit.edu 37 18 66678241 66678241 + Missense_Mutation SNP C G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr18:66678241C>G uc002lkk.2 + 9 1557 c.1334C>G c.(1333-1335)ACT>AGT p.T445S CCDC102B_uc002lki.2_Missense_Mutation_p.T445S NM_001093729 NP_001087198 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 445 Potential. ovary(1)|lung(1)|skin(1) 3 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) GCAGAACTGACTCATGCAAAC 0.348 46 15 --- --- --- --- PASS ACER1 125981 broad.mit.edu 37 19 6309832 6309832 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:6309832G>A uc002mel.2 - 4 442 c.364C>T c.(364-366)CGC>TGC p.R122C NM_133492 NP_597999 Q8TDN7 ACER1_HUMAN alkaline ceramidase 1 122 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane ceramidase activity 0 AAGACCAGGCGGATGAACTGG 0.612 26 60 --- --- --- --- PASS LASS4 79603 broad.mit.edu 37 19 8322848 8322848 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:8322848G>A uc002mjg.2 + 10 1147 c.827G>A c.(826-828)CGA>CAA p.R276Q LASS4_uc002mjh.2_Missense_Mutation_p.R225Q|LASS4_uc002mji.2_Missense_Mutation_p.R112Q|LASS4_uc010dvz.2_Intron NM_024552 NP_078828 Q9HA82 CERS4_HUMAN LAG1 homolog, ceramide synthase 4 276 TLC.|Helical; (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity ovary(1) 1 TTCTACACCCGACTGGTCCTC 0.562 64 238 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 8994501 8994501 + Silent SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:8994501G>A uc002mkp.2 - 64 41595 c.41391C>T c.(41389-41391)TTC>TTT p.F13797F MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.F614F|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13799 Extracellular (Potential).|SEA 12.|ANK 1. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TAGTGATGGTGAAGTTGAGGG 0.483 43 269 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9087854 9087854 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:9087854G>C uc002mkp.2 - 1 4165 c.3961C>G c.(3961-3963)CCC>GCC p.P1321A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1321 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TAGGTGGTGGGGTCCCAGGTA 0.507 68 133 --- --- --- --- PASS CARM1 10498 broad.mit.edu 37 19 11032100 11032100 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:11032100G>C uc002mpz.2 + 15 1791 c.1665G>C c.(1663-1665)ATG>ATC p.M555I CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_Intron NM_199141 NP_954592 Q86X55 CARM1_HUMAN coactivator-associated arginine 555 Transactivation domain (By similarity). cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding 0 GCTCCATAATGAGCACGGGGA 0.672 100 228 --- --- --- --- PASS ZNF653 115950 broad.mit.edu 37 19 11598418 11598418 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:11598418G>A uc002mrz.1 - 4 913 c.860C>T c.(859-861)GCG>GTG p.A287V NM_138783 NP_620138 Q96CK0 ZN653_HUMAN zinc finger protein 653 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GCTGGGGCCCGCACCCACTTG 0.687 4 169 --- --- --- --- PASS ZNF763 284390 broad.mit.edu 37 19 12089587 12089587 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:12089587C>T uc002msw.2 + 4 1003 c.848C>T c.(847-849)CCA>CTA p.P283L ZNF763_uc010xmf.1_Missense_Mutation_p.P303L|ZNF763_uc002msv.2_Missense_Mutation_p.P286L|ZNF763_uc010xmg.1_Missense_Mutation_p.P161L NM_001012753 NP_001012771 Q0D2J5 ZN763_HUMAN zinc finger protein 763 283 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 GGGGGAAAGCCATATGAATGT 0.418 97 78 --- --- --- --- PASS ZNF433 163059 broad.mit.edu 37 19 12126290 12126290 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:12126290G>C uc002msy.1 - 4 1563 c.1392C>G c.(1390-1392)TTC>TTG p.F464L uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.F429L NM_001080411 NP_001073880 Q8N7K0 ZN433_HUMAN zinc finger protein 433 464 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTATTTGAAAGAAAGAGAAAT 0.393 31 141 --- --- --- --- PASS ZNF44 51710 broad.mit.edu 37 19 12384865 12384865 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:12384865C>T uc010xmj.1 - 5 554 c.349G>A c.(349-351)GAG>AAG p.E117K ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.E69K NM_001164276 NP_001157748 P15621 ZNF44_HUMAN zinc finger protein 44 isoform 1 117 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) CCAAATCTCTCTACCACATCA 0.313 94 525 --- --- --- --- PASS EMR3 84658 broad.mit.edu 37 19 14740935 14740935 + Silent SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:14740935G>T uc002mzi.3 - 14 1876 c.1728C>A c.(1726-1728)GCC>GCA p.A576A EMR3_uc010dzp.2_Silent_p.A524A|EMR3_uc010xnv.1_Silent_p.A450A NM_032571 NP_115960 Q9BY15 EMR3_HUMAN egf-like module-containing mucin-like receptor 576 Helical; Name=6; (Potential). neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(5)|skin(1) 6 CCATGACCTGGGCAGCTGGAC 0.557 74 68 --- --- --- --- PASS RASAL3 64926 broad.mit.edu 37 19 15564029 15564029 + Nonsense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:15564029C>T uc002nbe.2 - 15 2645 c.2559G>A c.(2557-2559)TGG>TGA p.W853* RASAL3_uc002nbd.2_Nonsense_Mutation_p.W193*|RASAL3_uc010eaa.1_Nonsense_Mutation_p.W341* NM_022904 NP_075055 Q86YV0 RASL3_HUMAN RAS protein activator like 3 853 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity 0 AGTCCCGGGTCCAAGGCCGGG 0.736 7 20 --- --- --- --- PASS CIB3 117286 broad.mit.edu 37 19 16280444 16280444 + Silent SNP C G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:16280444C>G uc002nds.2 - 3 195 c.195G>C c.(193-195)CTG>CTC p.L65L CIB3_uc010eae.2_Silent_p.L4L|CIB3_uc010eaf.2_Intron|CIB3_uc010eag.2_Intron NM_054113 NP_473454 Q96Q77 CIB3_HUMAN DNA-dependent protein kinase catalytic 65 calcium ion binding ovary(1) 1 GGCATACCTTCAGCTCGGGCA 0.433 20 54 --- --- --- --- PASS CPAMD8 27151 broad.mit.edu 37 19 17049240 17049240 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:17049240C>A uc002nfb.2 - 23 2983 c.2951G>T c.(2950-2952)CGG>CTG p.R984L NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 937 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 GGTGTACGCCCGGGGGACTCC 0.617 14 36 --- --- --- --- PASS UNC13A 23025 broad.mit.edu 37 19 17728602 17728602 + Silent SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:17728602C>T uc002nhd.2 - 40 4731 c.4731G>A c.(4729-4731)CCG>CCA p.P1577P NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 1489 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 ATTGCAGGTCCGGGCTCTTCT 0.597 42 172 --- --- --- --- PASS SLC5A5 6528 broad.mit.edu 37 19 18001770 18001770 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:18001770C>T uc002nhr.3 + 14 2074 c.1727C>T c.(1726-1728)CCC>CTC p.P576L NM_000453 NP_000444 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium iodide 576 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity skin(2)|ovary(1)|central_nervous_system(1) 4 TCAGTGGCCCCCAAGGAAGAA 0.592 135 211 --- --- --- --- PASS NCAN 1463 broad.mit.edu 37 19 19349166 19349166 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:19349166C>A uc002nlz.2 + 11 3454 c.3355C>A c.(3355-3357)CGC>AGC p.R1119S NCAN_uc010ecc.1_Missense_Mutation_p.R683S|NCAN_uc002nma.2_5'Flank NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 1119 C-type lectin. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) CTGCCGCCGCCGCTCCGGCCA 0.652 52 100 --- --- --- --- PASS ZNF626 199777 broad.mit.edu 37 19 20807233 20807233 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:20807233C>T uc002npb.1 - 4 1600 c.1450G>A c.(1450-1452)GAA>AAA p.E484K ZNF626_uc002npc.1_Missense_Mutation_p.E408K NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 484 C2H2-type 12; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 CCACATTCTTCACATTTGTAG 0.388 8 76 --- --- --- --- PASS ZNF626 199777 broad.mit.edu 37 19 20807401 20807401 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:20807401C>T uc002npb.1 - 4 1432 c.1282G>A c.(1282-1284)GAA>AAA p.E428K ZNF626_uc002npc.1_Missense_Mutation_p.E352K NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 428 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 CCACATTCTTCACATTTGTAG 0.388 52 296 --- --- --- --- PASS ZNF626 199777 broad.mit.edu 37 19 20807684 20807684 + Missense_Mutation SNP T A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:20807684T>A uc002npb.1 - 4 1149 c.999A>T c.(997-999)AGA>AGT p.R333S ZNF626_uc002npc.1_Missense_Mutation_p.R257S NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 333 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 CAGTATGAATTCTTTTATGTG 0.353 85 432 --- --- --- --- PASS ZNF85 7639 broad.mit.edu 37 19 21131617 21131617 + Silent SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:21131617G>A uc002npg.3 + 4 424 c.297G>A c.(295-297)GTG>GTA p.V99V ZNF85_uc010ecn.2_Silent_p.V34V|ZNF85_uc010eco.2_Silent_p.V47V|ZNF85_uc002npi.2_Silent_p.V40V NM_003429 NP_003420 Q03923 ZNF85_HUMAN zinc finger protein 85 99 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1) 1 TCCAAAAAGTGACACTGAAAA 0.348 43 259 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22155510 22155510 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:22155510G>T uc002nqp.2 - 5 2175 c.2026C>A c.(2026-2028)CCC>ACC p.P676T 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) CATTTGTAGGGTTTCTCTACA 0.363 62 64 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 30936483 30936483 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:30936483C>T uc002nsu.1 + 2 2152 c.2014C>T c.(2014-2016)CGT>TGT p.R672C ZNF536_uc010edd.1_Missense_Mutation_p.R672C NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 672 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GGATGAGCGGCGTGGCTCGGG 0.692 31 91 --- --- --- --- PASS SLC7A9 11136 broad.mit.edu 37 19 33355641 33355641 + Silent SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:33355641G>A uc002ntv.3 - 3 246 c.129C>T c.(127-129)ATC>ATT p.I43I SLC7A9_uc002ntt.3_Intron|SLC7A9_uc002ntu.3_Silent_p.I43I|SLC7A9_uc002ntw.3_Intron NM_001126335 NP_001119807 P82251 BAT1_HUMAN solute carrier family 7, member 9 43 Helical; (Potential). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding skin(1) 1 Esophageal squamous(110;0.137) L-Cystine(DB00138) CAGAGCCAATGATGGTGCCCA 0.627 50 457 --- --- --- --- PASS LRP3 4037 broad.mit.edu 37 19 33695616 33695616 + Silent SNP A C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:33695616A>C uc010edh.2 + 4 426 c.333A>C c.(331-333)CCA>CCC p.P111P LRP3_uc010xrp.1_5'UTR|LRP3_uc002nuk.3_5'UTR NM_002333 NP_002324 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 111 Extracellular (Potential).|CUB 1. receptor-mediated endocytosis coated pit|integral to membrane receptor activity pancreas(2)|ovary(1) 3 Esophageal squamous(110;0.137) CAGCAGCCCCACCCCGCCAGG 0.662 12 133 --- --- --- --- PASS PEPD 5184 broad.mit.edu 37 19 33878385 33878385 + Silent SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:33878385G>A uc002nur.3 - 15 1482 c.1347C>T c.(1345-1347)GTC>GTT p.V449V PEPD_uc010xrr.1_Silent_p.V408V|PEPD_uc010xrs.1_Silent_p.V385V|PEPD_uc002nuq.3_Silent_p.V128V NM_000285 NP_000276 P12955 PEPD_HUMAN prolidase isoform 1 449 cellular amino acid metabolic process|collagen catabolic process|proteolysis aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity ovary(2) 2 Esophageal squamous(110;0.137) CCTCGATGCGGACCTGGGTCA 0.612 43 243 --- --- --- --- PASS PDCD2L 84306 broad.mit.edu 37 19 34895654 34895654 + Missense_Mutation SNP C G G rs143274693 TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:34895654C>G uc002nvj.2 + 2 242 c.209C>G c.(208-210)CCG>CGG p.P70R NM_032346 NP_115722 Q9BRP1 PDD2L_HUMAN programmed cell death 2-like 70 cytoplasm ovary(1) 1 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) GAAGGCTCCCCGTTTCACCGT 0.706 9 71 --- --- --- --- PASS TMEM149 79713 broad.mit.edu 37 19 36230925 36230925 + Missense_Mutation SNP T C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:36230925T>C uc002obc.2 - 4 508 c.407A>G c.(406-408)CAG>CGG p.Q136R TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Missense_Mutation_p.Q136R|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Missense_Mutation_p.Q216R NM_024660 NP_078936 Q9H665 IGFR1_HUMAN transmembrane protein 149 precursor 136 Extracellular (Potential). integral to membrane|plasma membrane protein binding|receptor activity 0 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCTGCGCTCCTGGGAGCTAGG 0.652 114 53 --- --- --- --- PASS NPHS1 4868 broad.mit.edu 37 19 36339015 36339015 + Silent SNP C A A rs141962470 TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:36339015C>A uc002oby.2 - 11 1368 c.1368G>T c.(1366-1368)CGG>CGT p.R456R NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 456 Extracellular (Potential).|Ig-like C2-type 5. 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) GGGTCCCAGCCCGGAGCTTCT 0.622 75 298 --- --- --- --- PASS TYROBP 7305 broad.mit.edu 37 19 36398483 36398483 + Splice_Site SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:36398483C>T uc002ocm.2 - 3 151 c.95_splice c.e3-1 p.D32_splice TYROBP_uc002ocn.2_Splice_Site_p.D32_splice NM_003332 NP_003323 O43914 TYOBP_HUMAN TYRO protein tyrosine kinase binding protein axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response integral to plasma membrane|intracellular identical protein binding|receptor signaling protein activity 0 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) CAACTGCAATCTGCAGCACAG 0.632 22 121 --- --- --- --- PASS ZNF790 388536 broad.mit.edu 37 19 37309846 37309846 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:37309846C>T uc002oew.2 - 5 1519 c.1400G>A c.(1399-1401)CGA>CAA p.R467Q uc002oev.1_Intron NM_206894 NP_996777 Q6PG37 ZN790_HUMAN zinc finger protein 790 467 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|skin(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TTTCTGATGTCGATTAAACTC 0.368 6 459 --- --- --- --- PASS CATSPERG 57828 broad.mit.edu 37 19 38851187 38851187 + Nonsense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:38851187G>A uc002oih.3 + 15 1754 c.1667G>A c.(1666-1668)TGG>TAG p.W556* CATSPERG_uc002oig.3_Nonsense_Mutation_p.W516*|CATSPERG_uc002oif.3_Nonsense_Mutation_p.W196*|CATSPERG_uc010efw.2_RNA NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN cation channel, sperm-associated, gamma 556 Extracellular (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(1)|skin(1) 2 TCCAAGGGCTGGCAGGTGCAC 0.552 310 65 --- --- --- --- PASS SERTAD3 29946 broad.mit.edu 37 19 40947845 40947845 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:40947845C>T uc002onu.3 - 2 421 c.143G>A c.(142-144)CGA>CAA p.R48Q SERTAD3_uc002onv.3_Missense_Mutation_p.R48Q NM_013368 NP_037500 Q9UJW9 SRTD3_HUMAN RPA-binding trans-activator 48 SERTA. negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding 0 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCTGGGTGCTCGGGGGCCCAG 0.672 20 125 --- --- --- --- PASS SPTBN4 57731 broad.mit.edu 37 19 40993684 40993684 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:40993684G>T uc002ony.2 + 3 336 c.250G>T c.(250-252)GAC>TAC p.D84Y SPTBN4_uc002onx.2_Missense_Mutation_p.D84Y|SPTBN4_uc002onz.2_Missense_Mutation_p.D84Y NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 84 CH 1.|Actin-binding. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCACATCGGGGACCTCTATGT 0.657 34 241 --- --- --- --- PASS SPTBN4 57731 broad.mit.edu 37 19 41060526 41060526 + Silent SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:41060526G>T uc002ony.2 + 24 5144 c.5058G>T c.(5056-5058)GCG>GCT p.A1686A SPTBN4_uc002onx.2_Silent_p.A1686A|SPTBN4_uc002onz.2_Silent_p.A1686A|SPTBN4_uc010egx.2_Silent_p.A429A|SPTBN4_uc010egy.1_Silent_p.A362A|SPTBN4_uc002ooa.2_Silent_p.A362A NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 1686 Spectrin 14. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGTGCCGGGCGCTGCTGGAGA 0.642 3 62 --- --- --- --- PASS LTBP4 8425 broad.mit.edu 37 19 41125266 41125266 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:41125266G>A uc002ooh.1 + 26 3286 c.3286G>A c.(3286-3288)GAA>AAA p.E1096K LTBP4_uc002oog.1_Missense_Mutation_p.E1059K|LTBP4_uc002ooi.1_Missense_Mutation_p.E1029K|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Missense_Mutation_p.E230K|LTBP4_uc002ool.1_Missense_Mutation_p.E108K|LTBP4_uc002oom.1_RNA|LTBP4_uc010xvp.1_5'UTR NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding 1096 Cys-rich. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAACGAGTGTGAAACACTACA 0.498 178 640 --- --- --- --- PASS FPR3 2359 broad.mit.edu 37 19 52327118 52327118 + Silent SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:52327118C>T uc002pxt.1 + 2 301 c.117C>T c.(115-117)TTC>TTT p.F39F NM_002030 NP_002021 P25089 FPR3_HUMAN formyl peptide receptor-like 2 39 Helical; Name=1; (Potential). cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity lung(4)|breast(1)|skin(1) 6 CCTTTGTCTTCGGGGTCCTGG 0.552 100 31 --- --- --- --- PASS SYT5 6861 broad.mit.edu 37 19 55685915 55685915 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:55685915G>C uc002qjm.1 - 7 1990 c.930C>G c.(928-930)TTC>TTG p.F310L SYT5_uc002qjp.2_Missense_Mutation_p.F306L|SYT5_uc002qjn.1_Missense_Mutation_p.F310L|SYT5_uc002qjo.1_Missense_Mutation_p.F309L NM_003180 NP_003171 O00445 SYT5_HUMAN synaptotagmin V 310 Cytoplasmic (Potential).|C2 2. energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) CCTCGAAGCTGAAAGCTTCGT 0.532 89 172 --- --- --- --- PASS BRSK1 84446 broad.mit.edu 37 19 55815139 55815139 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:55815139G>A uc002qkg.2 + 12 1508 c.1231G>A c.(1231-1233)GGT>AGT p.G411S BRSK1_uc002qkf.2_Missense_Mutation_p.G427S|BRSK1_uc002qkh.2_Missense_Mutation_p.G106S NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 411 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1) 6 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) TGCCGGGGGTGGTGGCTCCCC 0.642 62 16 --- --- --- --- PASS ZNF274 10782 broad.mit.edu 37 19 58723696 58723696 + Missense_Mutation SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr19:58723696G>C uc002qrq.1 + 10 1608 c.1149G>C c.(1147-1149)TTG>TTC p.L383F ZNF274_uc002qrr.1_Missense_Mutation_p.L351F|ZNF274_uc002qrs.1_Missense_Mutation_p.L278F|ZNF274_uc010eum.1_Missense_Mutation_p.L142F NM_133502 NP_598009 Q96GC6 ZN274_HUMAN zinc finger protein 274 isoform c 383 viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) ACACAGTGTTGAAGCAGATGG 0.493 106 20 --- --- --- --- PASS C20orf26 26074 broad.mit.edu 37 20 20278961 20278961 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr20:20278961G>T uc002wru.2 + 25 3429 c.3353G>T c.(3352-3354)GGC>GTC p.G1118V C20orf26_uc002wrw.2_RNA NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 1118 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) CGCTTGTTTGGCCAGCACGAG 0.468 38 11 --- --- --- --- PASS PLK1S1 55857 broad.mit.edu 37 20 21142511 21142511 + Splice_Site SNP G C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr20:21142511G>C uc002wsb.2 + 5 539 c.406_splice c.e5-1 p.V136_splice PLK1S1_uc010zsh.1_Splice_Site_p.V33_splice|PLK1S1_uc010zsi.1_Splice_Site_p.V3_splice|PLK1S1_uc010zsj.1_Splice_Site|uc002wsc.2_Intron|PLK1S1_uc002wsd.2_5'Flank NM_018474 NP_060944 Q2M2Z5 KIZ_HUMAN polo-like kinase 1 substrate 1 isoform 1 spindle organization centrosome protein kinase binding 0 TGGTGTTGCAGGTTGCAGTGC 0.408 34 23 --- --- --- --- PASS C20orf132 140699 broad.mit.edu 37 20 35769624 35769624 + Silent SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr20:35769624G>T uc010zvu.1 - 14 1550 c.1459C>A c.(1459-1461)CGA>AGA p.R487R C20orf132_uc002xgk.2_Intron|C20orf132_uc002xgm.2_Silent_p.R487R|C20orf132_uc002xgn.2_Silent_p.R452R NM_152503 NP_689716 Q9H579 CT132_HUMAN hypothetical protein LOC140699 isoform 1 362 0 Myeloproliferative disorder(115;0.00878) CCTGCTGATCGCTGGATGCAG 0.398 12 49 --- --- --- --- PASS SLC32A1 140679 broad.mit.edu 37 20 37357187 37357187 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr20:37357187G>A uc002xjc.2 + 2 1746 c.1483G>A c.(1483-1485)GCC>ACC p.A495T NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 495 Helical; (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CTTCGACGTCGCCATCTTCGT 0.647 11 50 --- --- --- --- PASS COL20A1 57642 broad.mit.edu 37 20 61957036 61957036 + Missense_Mutation SNP A T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr20:61957036A>T uc011aau.1 + 29 3465 c.3365A>T c.(3364-3366)CAG>CTG p.Q1122L COL20A1_uc011aav.1_Missense_Mutation_p.Q943L NM_020882 NP_065933 Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 1122 Collagen-like 1. cell adhesion collagen|extracellular space structural molecule activity central_nervous_system(1) 1 all_cancers(38;1.39e-10) CCCGGCCACCAGGGCATCCCC 0.706 7 13 --- --- --- --- PASS SRMS 6725 broad.mit.edu 37 20 62173649 62173649 + Silent SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr20:62173649G>T uc002yfi.1 - 5 854 c.813C>A c.(811-813)GCC>GCA p.A271A NM_080823 NP_543013 Q9H3Y6 SRMS_HUMAN src-related kinase lacking C-terminal regulatory 271 Protein kinase. ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(1)|lung(1) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) GGATCTCCTTGGCGAGGTCAG 0.642 15 20 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10906938 10906938 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr21:10906938C>T uc002yip.1 - 24 1991 c.1623G>A c.(1621-1623)ATG>ATA p.M541I TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.M523I|TPTE_uc002yir.1_Missense_Mutation_p.M503I|TPTE_uc010gkv.1_Missense_Mutation_p.M403I NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 541 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CACTGGAAGTCATTTTCTCGC 0.383 28 38 --- --- --- --- PASS PCNT 5116 broad.mit.edu 37 21 47855969 47855969 + Silent SNP C G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr21:47855969C>G uc002zji.3 + 39 9011 c.8904C>G c.(8902-8904)CTC>CTG p.L2968L PCNT_uc002zjj.2_Silent_p.L2771L NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 2968 Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) CGGACCACCTCCGGGAACAGC 0.677 28 56 --- --- --- --- PASS IL17RA 23765 broad.mit.edu 37 22 17586799 17586799 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr22:17586799G>A uc002zly.2 + 11 1133 c.1000G>A c.(1000-1002)GGC>AGC p.G334S IL17RA_uc010gqt.2_Intron NM_014339 NP_055154 Q96F46 I17RA_HUMAN interleukin 17A receptor precursor 334 Helical; (Potential). fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity skin(2) 2 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) CCTGCTGGTGGGCTCCGTCAT 0.448 38 36 --- --- --- --- PASS PI4KA 5297 broad.mit.edu 37 22 21073008 21073008 + Missense_Mutation SNP T C C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr22:21073008T>C uc002zsz.3 - 44 5276 c.5045A>G c.(5044-5046)AAG>AGG p.K1682R PI4KA_uc010gsp.2_Missense_Mutation_p.K75R|PI4KA_uc002zsy.3_Missense_Mutation_p.K492R NM_058004 NP_477352 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase type 3 alpha 1682 Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity (By similarity). phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1) 4 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) GTTGGTGATCTTGTTAAAGAA 0.448 10 697 --- --- --- --- PASS PRAME 23532 broad.mit.edu 37 22 22892332 22892332 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr22:22892332C>T uc002zwf.2 - 4 925 c.769G>A c.(769-771)GGC>AGC p.G257S LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.G241S|PRAME_uc010gtr.2_Missense_Mutation_p.G257S|PRAME_uc002zwg.2_Missense_Mutation_p.G257S|PRAME_uc002zwh.2_Missense_Mutation_p.G257S|PRAME_uc002zwi.2_Missense_Mutation_p.G257S|PRAME_uc002zwj.2_Missense_Mutation_p.G257S|PRAME_uc002zwk.2_Missense_Mutation_p.G257S NM_206956 NP_996839 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 257 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding central_nervous_system(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) ATCATCTGGCCCAGGTAAGGA 0.483 35 117 --- --- --- --- PASS IGLL1 3543 broad.mit.edu 37 22 23922244 23922244 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr22:23922244G>A uc002zxd.2 - 1 252 c.134C>T c.(133-135)TCG>TTG p.S45L IGLL1_uc002zxe.2_Missense_Mutation_p.S45L NM_020070 NP_064455 P15814 IGLL1_HUMAN immunoglobulin lambda-like polypeptide 1 isoform 45 immune response extracellular region|membrane 0 CCTGCTCTGCGATGCAGCTGT 0.697 7 1 --- --- --- --- PASS RGL4 266747 broad.mit.edu 37 22 24034261 24034261 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr22:24034261G>T uc002zxn.2 + 1 1214 c.44G>T c.(43-45)AGT>ATT p.S15I LOC91316_uc002zxh.3_RNA|LOC91316_uc002zxi.3_RNA|LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Missense_Mutation_p.S15I|RGL4_uc002zxp.1_5'UTR|RGL4_uc002zxq.2_5'UTR NM_153615 NP_705843 Q8IZJ4 RGDSR_HUMAN ral guanine nucleotide dissociation 15 small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle guanyl-nucleotide exchange factor activity ovary(1) 1 GCAGTCTTGAGTGCCCAGGTG 0.597 40 120 --- --- --- --- PASS SMARCB1 6598 broad.mit.edu 37 22 24143214 24143214 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr22:24143214C>A uc002zyb.2 + 4 653 c.446C>A c.(445-447)ACA>AAA p.T149K SMARCB1_uc002zyg.2_Missense_Mutation_p.T149K|SMARCB1_uc011ajb.1_Missense_Mutation_p.T140K|SMARCB1_uc002zya.2_Missense_Mutation_p.T149K|SMARCB1_uc002zyc.2_Missense_Mutation_p.T140K|SMARCB1_uc002zyd.2_Missense_Mutation_p.T140K|SMARCB1_uc002zye.1_Intron|SMARCB1_uc002zyf.1_Intron|SMARCB1_uc010gue.1_Intron NM_003073 NP_003064 Q12824 SNF5_HUMAN SWI/SNF related, matrix associated, actin 149 DNA-binding (Potential). cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex p53 binding p.?(5) soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1) 407 Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05) CCATGCTCCACAACCATCAAC 0.567 D|N|F|S malignant rhabdoid malignant rhabdoid Rhabdoid_Predisposition_syndrome|Schwannomatosis 21 109 --- --- --- --- PASS PHF21B 112885 broad.mit.edu 37 22 45312219 45312219 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr22:45312219C>T uc003bfn.2 - 4 656 c.505G>A c.(505-507)GTG>ATG p.V169M PHF21B_uc003bfm.2_Missense_Mutation_p.V7M|PHF21B_uc011aqk.1_Missense_Mutation_p.V157M|PHF21B_uc011aql.1_Missense_Mutation_p.V169M|PHF21B_uc011aqm.1_Missense_Mutation_p.V157M NM_138415 NP_612424 Q96EK2 PF21B_HUMAN PHD finger protein 21B isoform 1 169 zinc ion binding ovary(2)|skin(1) 3 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) ACCACAGACACGGCGGTGCTG 0.677 8 15 --- --- --- --- PASS SYTL5 94122 broad.mit.edu 37 X 37967889 37967889 + Silent SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chrX:37967889G>A uc004ddu.2 + 13 1905 c.1371G>A c.(1369-1371)CGG>CGA p.R457R SYTL5_uc004ddv.2_Silent_p.R457R|SYTL5_uc004ddx.2_Silent_p.R479R NM_001163335 NP_001156807 Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 isoform 1 457 C2 1. intracellular protein transport membrane metal ion binding|Rab GTPase binding skin(1) 1 ACAAGTCCCGGAACAACAAGC 0.333 9 1 --- --- --- --- PASS PHF16 9767 broad.mit.edu 37 X 46913584 46913584 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chrX:46913584G>T uc004dgx.2 + 9 1048 c.997G>T c.(997-999)GCC>TCC p.A333S PHF16_uc004dgy.2_Missense_Mutation_p.A333S NM_001077445 NP_001070913 Q92613 JADE3_HUMAN PHD finger protein 16 333 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 CTGCATCACTGCCTTCCACGT 0.463 25 41 --- --- --- --- PASS CFP 5199 broad.mit.edu 37 X 47486233 47486233 + Silent SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chrX:47486233G>T uc004dig.3 - 6 1005 c.879C>A c.(877-879)GGC>GGA p.G293G CFP_uc004dih.2_Silent_p.G293G|CFP_uc004dii.1_Silent_p.G229G|CFP_uc010nhu.2_Silent_p.G293G NM_001145252 NP_001138724 P27918 PROP_HUMAN complement factor properdin precursor 293 TSP type-1 4. complement activation, alternative pathway|defense response to bacterium extracellular space breast(2)|lung(1) 3 CACAGAAGGGGCCCCCATGCT 0.647 33 5 --- --- --- --- PASS AKAP4 8852 broad.mit.edu 37 X 49955644 49955644 + Missense_Mutation SNP C A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chrX:49955644C>A uc004dow.1 - 6 2648 c.2524G>T c.(2524-2526)GCC>TCC p.A842S AKAP4_uc004dov.1_Missense_Mutation_p.A459S|AKAP4_uc010njp.1_Missense_Mutation_p.A664S|AKAP4_uc004dou.1_Missense_Mutation_p.A833S NM_003886 NP_003877 Q5JQC9 AKAP4_HUMAN A-kinase anchor protein 4 isoform 1 842 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 8 Ovarian(276;0.236) TGTTTCCTGGCCACCTTTCCC 0.532 92 25 --- --- --- --- PASS GRIA3 2892 broad.mit.edu 37 X 122528859 122528859 + Missense_Mutation SNP G A A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chrX:122528859G>A uc004etq.3 + 7 1084 c.791G>A c.(790-792)GGA>GAA p.G264E GRIA3_uc004etr.3_Missense_Mutation_p.G264E|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.G248E NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 264 Extracellular (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) ATGCATGGGGGAGCCAACATT 0.428 17 165 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123514791 123514791 + Silent SNP A G G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chrX:123514791A>G uc004euj.2 - 31 7837 c.7773T>C c.(7771-7773)ACT>ACC p.T2591T ODZ1_uc011muj.1_Silent_p.T2597T|ODZ1_uc010nqy.2_Silent_p.T2598T NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2591 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 GCCTCCCCCCAGTGTTACCGA 0.493 106 24 --- --- --- --- PASS LDOC1 23641 broad.mit.edu 37 X 140271147 140271147 + Missense_Mutation SNP G T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chrX:140271147G>T uc004fbj.2 - 1 164 c.60C>A c.(58-60)AGC>AGA p.S20R NM_012317 NP_036449 O95751 LDOC1_HUMAN leucine zipper, down-regulated in cancer 1 20 negative regulation of cell proliferation nucleus protein binding 0 Acute lymphoblastic leukemia(192;7.65e-05) TGTTCTCGATGCTCAGGGCGC 0.672 19 3 --- --- --- --- PASS LDOC1 23641 broad.mit.edu 37 X 140271148 140271148 + Missense_Mutation SNP C T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chrX:140271148C>T uc004fbj.2 - 1 163 c.59G>A c.(58-60)AGC>AAC p.S20N NM_012317 NP_036449 O95751 LDOC1_HUMAN leucine zipper, down-regulated in cancer 1 20 negative regulation of cell proliferation nucleus protein binding 0 Acute lymphoblastic leukemia(192;7.65e-05) GTTCTCGATGCTCAGGGCGCG 0.672 19 3 --- --- --- --- PASS VAV3 10451 broad.mit.edu 37 1 108145765 108145766 + Frame_Shift_Ins INS - T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr1:108145765_108145766insT uc001dvk.1 - 23 2089_2090 c.2035_2036insA c.(2035-2037)AGAfs p.R679fs VAV3_uc010ouu.1_Frame_Shift_Ins_p.R83fs|VAV3_uc001dvj.1_Frame_Shift_Ins_p.R119fs|VAV3_uc010ouv.1_Frame_Shift_Ins_p.R83fs|VAV3_uc010ouw.1_Frame_Shift_Ins_p.R679fs NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor isoform 679 SH2. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(5)|lung(2)|breast(2) 9 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) TGCTTGCAATCTTTCCATTGCT 0.361 139 68 --- --- --- --- CLASP1 23332 broad.mit.edu 37 2 122135144 122135144 + Frame_Shift_Del DEL C - - TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr2:122135144delC uc002tnc.2 - 33 3963 c.3573delG c.(3571-3573)AAGfs p.K1191fs CLASP1_uc010yyv.1_Frame_Shift_Del_p.K237fs|CLASP1_uc002tmz.2_Frame_Shift_Del_p.K276fs|CLASP1_uc002tna.2_Frame_Shift_Del_p.K237fs|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Frame_Shift_Del_p.K1132fs|CLASP1_uc010yza.1_Frame_Shift_Del_p.K1124fs|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tmy.2_Frame_Shift_Del_p.K27fs|CLASP1_uc002tnf.2_Frame_Shift_Del_p.K93fs NM_015282 NP_056097 Q7Z460 CLAP1_HUMAN CLIP-associating protein 1 isoform 1 1191 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding ovary(1)|central_nervous_system(1) 2 Renal(3;0.0496) GAAAACTAAACTTTTCAATGG 0.363 27 15 --- --- --- --- DLGAP2 9228 broad.mit.edu 37 8 1497416 1497417 + In_Frame_Ins INS - CCACCACGC CCACCACGC TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr8:1497416_1497417insCCACCACGC uc003wpl.2 + 2 654_655 c.557_558insCCACCACGC c.(556-558)CAC>CACCACCACGCC p.192_193insHHA DLGAP2_uc003wpm.2_In_Frame_Ins_p.192_193insHHA NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 271_272 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GCGGACGACCACCACCACGCCC 0.668 10 5 --- --- --- --- POSTN 10631 broad.mit.edu 37 13 38138674 38138675 + Frame_Shift_Ins INS - T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr13:38138674_38138675insT uc001uwo.3 - 22 2572_2573 c.2454_2455insA c.(2452-2457)CAAGCCfs p.Q818fs POSTN_uc010tet.1_Frame_Shift_Ins_p.Q319fs|POSTN_uc001uwp.3_Frame_Shift_Ins_p.Q761fs|POSTN_uc001uwr.2_Frame_Shift_Ins_p.Q763fs|POSTN_uc001uwq.2_Frame_Shift_Ins_p.Q733fs|POSTN_uc010teu.1_Frame_Shift_Ins_p.Q791fs|POSTN_uc010tev.1_Frame_Shift_Ins_p.Q731fs|POSTN_uc010tew.1_Frame_Shift_Ins_p.Q703fs NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 818_819 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding ovary(2) 2 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) TTTTTGTTGGCTTGCAACTTCC 0.342 59 118 --- --- --- --- DIAPH3 81624 broad.mit.edu 37 13 60348879 60348880 + Frame_Shift_Ins INS - T T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr13:60348879_60348880insT uc001vht.2 - 26 3460_3461 c.3241_3242insA c.(3241-3243)AGGfs p.R1081fs DIAPH3_uc001vhu.2_Frame_Shift_Ins_p.R818fs NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 1081 DAD. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) CATCGGTGTCCTTTTTCTTCTG 0.460 87 76 --- --- --- --- GLP2R 9340 broad.mit.edu 37 17 9729453 9729453 + Frame_Shift_Del DEL C - - TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr17:9729453delC uc002gmd.1 + 1 73 c.73delC c.(73-75)CCCfs p.P25fs GLP2R_uc010cog.1_RNA NM_004246 NP_004237 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor precursor 25 Extracellular (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane lung(2)|ovary(1) 3 Glucagon recombinant(DB00040) CCACGAGCTGCCCATGGGCAT 0.657 10 19 --- --- --- --- IL2RB 3560 broad.mit.edu 37 22 37535167 37535167 + Frame_Shift_Del DEL G - - TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 452b75d0-1818-46aa-8804-9cfc0bd66449 81a4d615-e95e-4c17-87f7-c06d8dd4975a g.chr22:37535167delG uc003aqv.1 - 5 509 c.378delC c.(376-378)CCCfs p.P126fs NM_000878 NP_000869 P14784 IL2RB_HUMAN interleukin 2 receptor beta precursor 126 Extracellular (Potential). interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity 0 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) GGTTCTCAAAGGGCTTGAAGT 0.607 20 12 --- --- --- ---