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 PLEKHN1 84069 broad.mit.edu 37 1 909828 909828 + Missense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:909828G>A uc001ace.2 + 15 1900 c.1865G>A c.(1864-1866)CGG>CAG p.R622Q PLEKHN1_uc001acd.2_Missense_Mutation_p.R570Q|PLEKHN1_uc001acf.2_Missense_Mutation_p.R535Q NM_032129 NP_115505 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing, family N 622 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) CCAGATGGTCGGTCCCCCAGG 0.637 24 61 --- --- --- --- PASS SPEN 23013 broad.mit.edu 37 1 16256434 16256434 + Silent SNP C A A rs111615156 TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:16256434C>A uc001axk.1 + 11 3903 c.3699C>A c.(3697-3699)GTC>GTA p.V1233V SPEN_uc010obp.1_Silent_p.V1192V NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 1233 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) TGGATCATGTCGATTTTGATA 0.463 39 77 --- --- --- --- PASS BAI2 576 broad.mit.edu 37 1 32196749 32196749 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:32196749C>A uc001btn.2 - 29 4386 c.4032G>T c.(4030-4032)GAG>GAT p.E1344D BAI2_uc001btm.2_Missense_Mutation_p.E338D|BAI2_uc001btp.1_Missense_Mutation_p.E338D|BAI2_uc010ogn.1_Missense_Mutation_p.E314D|BAI2_uc010ogo.1_Missense_Mutation_p.E953D|BAI2_uc010ogp.1_Missense_Mutation_p.E1277D|BAI2_uc010ogq.1_Missense_Mutation_p.E1311D|BAI2_uc001bto.2_Missense_Mutation_p.E1344D NM_001703 NP_001694 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 1344 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1) 13 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) CAGAGCCTGGCTCAGTGGGCC 0.701 7 6 --- --- --- --- PASS EPHA10 284656 broad.mit.edu 37 1 38197148 38197148 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:38197148G>T uc009vvi.2 - 7 1684 c.1598C>A c.(1597-1599)TCC>TAC p.S533Y EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN EPH receptor A10 isofom 3 533 Fibronectin type-III 2.|Extracellular (Potential). extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity breast(4)|stomach(3)|lung(1) 8 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TGGCCCCGGGGAAGCGGCCCG 0.597 36 93 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39851393 39851393 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:39851393C>G uc010oiu.1 + 21 9587 c.9456C>G c.(9454-9456)ATC>ATG p.I3152M MACF1_uc010ois.1_Missense_Mutation_p.I2650M|MACF1_uc001cda.1_Missense_Mutation_p.I2537M|MACF1_uc001cdc.1_Missense_Mutation_p.I1716M NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 4717 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGTCAGCTATCAGCACCCAAC 0.507 32 27 --- --- --- --- PASS TAL1 6886 broad.mit.edu 37 1 47689737 47689737 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:47689737C>G uc001cqx.2 - 3 1057 c.480G>C c.(478-480)ATG>ATC p.M160I TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Missense_Mutation_p.M160I|TAL1_uc001cra.1_RNA|TAL1_uc001cqz.1_RNA NM_003189 NP_003180 P17542 TAL1_HUMAN T-cell acute lymphocytic leukemia 1 160 basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity lung(1) 1 TGGTGGTGAACATAGGGAAGG 0.567 T TRD@|SIL lymphoblastic leukemia/biphasic 43 143 --- --- --- --- PASS ZZZ3 26009 broad.mit.edu 37 1 78098555 78098555 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:78098555C>T uc001dhq.2 - 5 961 c.485G>A c.(484-486)CGA>CAA p.R162Q ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.R162Q|ZZZ3_uc001dhp.2_Missense_Mutation_p.R162Q NM_015534 NP_056349 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|large_intestine(1) 5 TCGACAAGCTCGTTTAGTCCC 0.393 76 288 --- --- --- --- PASS FUBP1 8880 broad.mit.edu 37 1 78435678 78435678 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:78435678C>G uc001dii.2 - 2 231 c.142G>C c.(142-144)GAT>CAT p.D48H FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.D48H NM_003902 NP_003893 Q96AE4 FUBP1_HUMAN far upstream element-binding protein 48 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(2)|lung(1) 3 GTCCCTGCATCACCTCCAATT 0.303 41 26 --- --- --- --- PASS CLCA4 22802 broad.mit.edu 37 1 87031644 87031644 + Silent SNP T C C rs79822589 byFrequency TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:87031644T>C uc009wcs.2 + 6 939 c.895T>C c.(895-897)TTG>CTG p.L299L CLCA4_uc009wct.2_Silent_p.L62L|CLCA4_uc009wcu.2_Silent_p.L119L NM_012128 NP_036260 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 299 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity ovary(2) 2 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) TGTCTTCTCATTGCTGAAGAT 0.403 82 82 --- --- --- --- PASS POLR3GL 84265 broad.mit.edu 37 1 145460115 145460115 + Silent SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:145460115C>T uc001enp.1 - 2 215 c.108G>A c.(106-108)CAG>CAA p.Q36Q NBPF10_uc001emp.3_Intron NM_032305 NP_115681 Q9BT43 RPC7L_HUMAN polymerase (RNA) III (DNA directed) polypeptide 36 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GTGGAGAAGGCTGCAGGGTGG 0.622 10 22 --- --- --- --- PASS ANKRD35 148741 broad.mit.edu 37 1 145562897 145562897 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:145562897C>A uc001eob.1 + 10 2693 c.2585C>A c.(2584-2586)ACG>AAG p.T862K NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.T705K NM_144698 NP_653299 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 862 Potential. ovary(4)|skin(1) 5 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AAGTATAATACGGCCTGCCGG 0.677 13 10 --- --- --- --- PASS FMO5 2330 broad.mit.edu 37 1 146680526 146680526 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:146680526G>C uc001epi.2 - 6 1107 c.718C>G c.(718-720)CTT>GTT p.L240V FMO5_uc001eph.3_Missense_Mutation_p.L240V|FMO5_uc001epj.2_Missense_Mutation_p.L240V|FMO5_uc001epk.3_Missense_Mutation_p.L240V NM_001461 NP_001452 P49326 FMO5_HUMAN flavin containing monooxygenase 5 isoform 1 240 integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding ovary(3) 3 all_hematologic(923;0.0487) AAATGTGTAAGTCGAGAAGAG 0.428 19 184 --- --- --- --- PASS CRNN 49860 broad.mit.edu 37 1 152382780 152382780 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:152382780C>T uc001ezx.2 - 3 852 c.778G>A c.(778-780)GCC>ACC p.A260T NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN cornulin 260 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TCATTGGTGGCCTCCTGTGTC 0.597 99 759 --- --- --- --- PASS PGLYRP4 57115 broad.mit.edu 37 1 153317794 153317794 + Silent SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:153317794G>A uc001fbo.2 - 4 269 c.204C>T c.(202-204)TGC>TGT p.C68C PGLYRP4_uc001fbp.2_Silent_p.C64C NM_020393 NP_065126 Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein-I-beta 68 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding ovary(3)|skin(1) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) GCTGAATACTGCAGCCAACAG 0.587 115 159 --- --- --- --- PASS PGLYRP4 57115 broad.mit.edu 37 1 153317795 153317795 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:153317795C>G uc001fbo.2 - 4 268 c.203G>C c.(202-204)TGC>TCC p.C68S PGLYRP4_uc001fbp.2_Missense_Mutation_p.C64S NM_020393 NP_065126 Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein-I-beta 68 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding ovary(3)|skin(1) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) CTGAATACTGCAGCCAACAGC 0.582 116 161 --- --- --- --- PASS CKS1B 1163 broad.mit.edu 37 1 154947241 154947241 + Missense_Mutation SNP A G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:154947241A>G uc001fgb.2 + 1 124 c.20A>G c.(19-21)TAC>TGC p.Y7C SHC1_uc001ffx.2_5'Flank|SHC1_uc001ffy.2_5'Flank|CKS1B_uc001fga.2_RNA|hsa-mir-4258|MI0015857_5'Flank NM_001826 NP_001817 P61024 CKS1_HUMAN CDC28 protein kinase 1B 7 cell division|cell proliferation|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle nucleoplasm cyclin-dependent protein kinase regulator activity|protein binding 0 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) AAACAAATTTACTATTCGGAC 0.572 17 30 --- --- --- --- PASS GON4L 54856 broad.mit.edu 37 1 155823139 155823139 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:155823139C>T uc001flz.2 - 2 530 c.433G>A c.(433-435)GAC>AAC p.D145N GON4L_uc001fly.1_Missense_Mutation_p.D145N|GON4L_uc009wrh.1_Missense_Mutation_p.D145N|GON4L_uc001fma.1_Missense_Mutation_p.D145N|GON4L_uc001fmc.2_Missense_Mutation_p.D145N|GON4L_uc001fmd.3_Missense_Mutation_p.D145N|GON4L_uc009wri.2_5'UTR NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN gon-4-like isoform a 145 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(3) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TCACATCTGTCTTCTTGGGTA 0.448 60 372 --- --- --- --- PASS CD1E 913 broad.mit.edu 37 1 158326363 158326363 + Nonsense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:158326363C>G uc001fse.2 + 5 1219 c.980C>G c.(979-981)TCA>TGA p.S327* CD1E_uc010pid.1_3'UTR|CD1E_uc010pie.1_3'UTR|CD1E_uc010pif.1_3'UTR|CD1E_uc001fsd.2_3'UTR|CD1E_uc001fsk.2_Nonsense_Mutation_p.S237*|CD1E_uc001fsj.2_Nonsense_Mutation_p.S182*|CD1E_uc001fsc.2_Nonsense_Mutation_p.S138*|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Nonsense_Mutation_p.S83*|CD1E_uc001fsf.2_Nonsense_Mutation_p.S327*|CD1E_uc001fry.2_Nonsense_Mutation_p.S272*|CD1E_uc001fsg.2_3'UTR|CD1E_uc001fsh.2_Nonsense_Mutation_p.S138*|CD1E_uc001fsi.2_3'UTR|CD1E_uc009wsv.2_Nonsense_Mutation_p.S228*|CD1E_uc001frz.2_Nonsense_Mutation_p.S237*|CD1E_uc009wsw.2_Intron NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 327 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) GTAGTTGACTCACGGTTAAAA 0.308 38 47 --- --- --- --- PASS ADAMTS4 9507 broad.mit.edu 37 1 161163501 161163501 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:161163501C>A uc001fyt.3 - 6 2092 c.1664G>T c.(1663-1665)GGT>GTT p.G555V NM_005099 NP_005090 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 555 TSP type-1. 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) GTACTTGCCACCATTCCGGGG 0.657 53 312 --- --- --- --- PASS RXRG 6258 broad.mit.edu 37 1 165380257 165380257 + Missense_Mutation SNP T C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:165380257T>C uc001gda.2 - 5 1012 c.712A>G c.(712-714)AGG>GGG p.R238G NM_006917 NP_008848 P48443 RXRG_HUMAN retinoid X receptor, gamma isoform a 238 Hinge. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) TCTAGAATCCTCTCCACAGGC 0.478 59 128 --- --- --- --- PASS ADCY10 55811 broad.mit.edu 37 1 167847818 167847818 + Silent SNP A T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:167847818A>T uc001ger.2 - 12 1570 c.1272T>A c.(1270-1272)ATT>ATA p.I424I ADCY10_uc009wvk.2_Silent_p.I332I|ADCY10_uc010plj.1_Silent_p.I271I|ADCY10_uc009wvl.2_Silent_p.I423I NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 424 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 CGCAGGTCACAATTCCTGGGT 0.423 47 118 --- --- --- --- PASS F5 2153 broad.mit.edu 37 1 169489835 169489835 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:169489835C>G uc001ggg.1 - 22 6261 c.6116G>C c.(6115-6117)AGA>ACA p.R2039T NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 2039 F5/8 type C 1. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CCTAATATATCTAGCCACAAT 0.373 21 47 --- --- --- --- PASS SLC9A11 284525 broad.mit.edu 37 1 173478803 173478803 + Silent SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:173478803G>C uc001giz.2 - 24 3366 c.2943C>G c.(2941-2943)GGC>GGG p.G981G SLC9A11_uc009wwe.2_Silent_p.G539G NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 981 cNMP. sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 AGGCATCAAAGCCTTCATATA 0.393 10 57 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175299318 175299318 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:175299318C>A uc001gkp.1 - 19 3766 c.3685G>T c.(3685-3687)GAC>TAC p.D1229Y TNR_uc009wwu.1_Missense_Mutation_p.D1229Y NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 1229 Fibrinogen C-terminal. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) TCCCGCATGTCCACGCGCAGC 0.572 47 88 --- --- --- --- PASS TOR1AIP2 163590 broad.mit.edu 37 1 179815248 179815248 + Silent SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:179815248G>C uc001gnk.2 - 6 1759 c.1371C>G c.(1369-1371)GTC>GTG p.V457V TOR1AIP2_uc001gnl.2_Silent_p.V457V NM_145034 NP_659471 Q8NFQ8 TOIP2_HUMAN torsin A interacting protein 2 457 endoplasmic reticulum membrane|integral to membrane protein binding ovary(1) 1 TCACTGGCTGGACTGGCAGTA 0.448 35 160 --- --- --- --- PASS CACNA1S 779 broad.mit.edu 37 1 201009468 201009468 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:201009468C>G uc001gvv.2 - 43 5488 c.5261G>C c.(5260-5262)AGA>ACA p.R1754T NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 1754 Cytoplasmic (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GGAGCTCTTTCTGTCCTCAGG 0.572 23 66 --- --- --- --- PASS NAV1 89796 broad.mit.edu 37 1 201757714 201757714 + Silent SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:201757714G>A uc001gwu.2 + 10 3461 c.3114G>A c.(3112-3114)GAG>GAA p.E1038E NAV1_uc001gwv.1_Silent_p.E546E|NAV1_uc001gww.1_Silent_p.E647E|NAV1_uc001gwx.2_Silent_p.E647E|NAV1_uc001gwy.1_Silent_p.E419E NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 1038 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 CCCTGGCCGAGAGACCCAAGG 0.622 65 172 --- --- --- --- PASS LMOD1 25802 broad.mit.edu 37 1 201868841 201868841 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:201868841C>T uc001gxb.2 - 2 1548 c.1300G>A c.(1300-1302)GAG>AAG p.E434K LMOD1_uc010ppu.1_Missense_Mutation_p.E383K NM_012134 NP_036266 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 434 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding ovary(1)|pancreas(1)|skin(1) 3 ATCTCCATCTCCGTCTTGCCT 0.582 31 50 --- --- --- --- PASS PPP1R12B 4660 broad.mit.edu 37 1 202538294 202538294 + Missense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:202538294G>A uc001gya.1 + 23 2975 c.2831G>A c.(2830-2832)CGC>CAC p.R944H PPP1R12B_uc001gxz.1_Missense_Mutation_p.R944H|PPP1R12B_uc001gyb.1_Missense_Mutation_p.R170H|PPP1R12B_uc001gyc.1_Missense_Mutation_p.R170H NM_002481 NP_002472 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory (inhibitor) 944 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(75;0.166) GCCTTGGAGCGCAAAATGTCA 0.433 4 118 --- --- --- --- PASS SLC45A3 85414 broad.mit.edu 37 1 205632421 205632421 + Silent SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:205632421G>A uc001hda.1 - 3 837 c.498C>T c.(496-498)TTC>TTT p.F166F SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'UTR|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron NM_033102 NP_149093 Q96JT2 S45A3_HUMAN prostein 166 Helical; Name=5; (Potential). transmembrane transport integral to membrane SLC45A3/BRAF(2) ovary(2)|prostate(2) 4 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) GACTGATCATGAAGGCATAGA 0.632 T ETV1|ETV5|ELK4|ERG prostate 5 88 --- --- --- --- PASS DYRK3 8444 broad.mit.edu 37 1 206821586 206821586 + Missense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:206821586G>A uc001hej.2 + 3 1211 c.1043G>A c.(1042-1044)CGC>CAC p.R348H DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.R328H NM_003582 NP_003573 O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 348 Protein kinase. erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|central_nervous_system(1) 3 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) CACCACGGGCGCAGTTCAACC 0.458 5 292 --- --- --- --- PASS IL19 29949 broad.mit.edu 37 1 207010317 207010317 + Silent SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:207010317C>T uc001hep.2 + 4 1098 c.159C>T c.(157-159)ACC>ACT p.T53T IL19_uc001heo.2_Silent_p.T91T|IL19_uc010prx.1_Silent_p.T53T NM_013371 NP_037503 Q9UHD0 IL19_HUMAN interleukin 19 isoform 2 precursor 53 apoptosis|immune response|signal transduction extracellular space cytokine activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(75;0.211) CTAAGGACACCTTCCCAAATG 0.408 64 137 --- --- --- --- PASS CR1 1378 broad.mit.edu 37 1 207803911 207803911 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:207803911C>G uc001hfy.2 + 38 6192 c.6052C>G c.(6052-6054)CAA>GAA p.Q2018E CR1_uc001hfx.2_Missense_Mutation_p.Q2468E NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 2018 Cytoplasmic (Potential). complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 TTTACATTCTCAAGGAGGCAG 0.343 9 26 --- --- --- --- PASS CD34 947 broad.mit.edu 37 1 208073314 208073314 + Silent SNP A T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:208073314A>T uc001hgw.1 - 2 372 c.114T>A c.(112-114)ACT>ACA p.T38T CD34_uc001hgx.1_Silent_p.T38T|CD34_uc010psj.1_5'UTR NM_001025109 NP_001020280 P28906 CD34_HUMAN CD34 antigen isoform a 38 Extracellular (Potential). cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding ovary(1) 1 CTGGGGTAGCAGTACCGTTGT 0.443 22 134 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215844357 215844357 + Missense_Mutation SNP A G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:215844357A>G uc001hku.1 - 64 14477 c.14090T>C c.(14089-14091)TTT>TCT p.F4697S NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4697 Fibronectin type-III 32.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGAATCTATAAAAGATGTTGA 0.363 HNSCC(13;0.011) 132 241 --- --- --- --- PASS C1orf131 128061 broad.mit.edu 37 1 231364912 231364912 + Missense_Mutation SNP T C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr1:231364912T>C uc001hun.1 - 3 531 c.494A>G c.(493-495)GAA>GGA p.E165G C1orf131_uc001hul.2_Missense_Mutation_p.E165G|C1orf131_uc001hum.2_Missense_Mutation_p.E164G|C1orf131_uc010pwd.1_Missense_Mutation_p.E164G NM_152379 NP_689592 Q8NDD1 CA131_HUMAN hypothetical protein LOC128061 165 central_nervous_system(1)|skin(1) 2 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) TAGGTTAAATTCTTGTGTATC 0.209 23 47 --- --- --- --- PASS MYT1L 23040 broad.mit.edu 37 2 1921039 1921039 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:1921039C>A uc002qxe.2 - 11 2383 c.1556G>T c.(1555-1557)GGG>GTG p.G519V MYT1L_uc002qxd.2_Missense_Mutation_p.G517V|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 519 C2HC-type 2. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TGGGTACAGCCCAGTTACGTG 0.552 107 164 --- --- --- --- PASS NCOA1 8648 broad.mit.edu 37 2 24930643 24930643 + Silent SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:24930643G>T uc002rfk.2 + 11 2562 c.2304G>T c.(2302-2304)CTG>CTT p.L768L NCOA1_uc010eye.2_Silent_p.L768L|NCOA1_uc002rfi.2_Silent_p.L617L|NCOA1_uc002rfj.2_Silent_p.L768L|NCOA1_uc002rfl.2_Silent_p.L768L NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 768 PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACCTGAGCCTGGATGATGTAA 0.388 T PAX3 alveolar rhadomyosarcoma 35 62 --- --- --- --- PASS DNAJC27 51277 broad.mit.edu 37 2 25170608 25170608 + Silent SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:25170608G>C uc002rft.1 - 7 750 c.699C>G c.(697-699)GTC>GTG p.V233V DNAJC27_uc010ykn.1_Silent_p.V162V|DNAJC27_uc002rfu.1_RNA|DNAJC27_uc010eyg.1_3'UTR NM_016544 NP_057628 Q9NZQ0 DJC27_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 27 233 J. protein folding|small GTPase mediated signal transduction GTP binding|heat shock protein binding|unfolded protein binding skin(1) 1 ACGCTTTATTGACTTCATCCC 0.458 24 121 --- --- --- --- PASS SLC30A3 7781 broad.mit.edu 37 2 27480121 27480121 + Silent SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:27480121G>T uc002rjk.2 - 5 864 c.678C>A c.(676-678)CCC>CCA p.P226P SLC30A3_uc002rjj.2_Missense_Mutation_p.P72H|SLC30A3_uc010ylh.1_Silent_p.P221P NM_003459 NP_003450 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), 226 Cytoplasmic (Potential). regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGTTCCCCAGGGGCAGGGGCT 0.652 22 58 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32703827 32703827 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:32703827C>A uc010ezu.2 + 36 7327 c.7193C>A c.(7192-7194)TCT>TAT p.S2398Y NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 2398 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) GGAGATATATCTTGGGGTGGT 0.413 28 156 --- --- --- --- PASS RTN4 57142 broad.mit.edu 37 2 55254534 55254534 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:55254534G>C uc002rye.2 - 3 999 c.701C>G c.(700-702)TCT>TGT p.S234C RTN4_uc002ryd.2_Missense_Mutation_p.S28C|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron NM_020532 NP_065393 Q9NQC3 RTN4_HUMAN reticulon 4 isoform A 234 Cytoplasmic (Potential). apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding ovary(2)|large_intestine(1) 3 AGAAGGAAGAGAAGCAGCAGT 0.443 25 121 --- --- --- --- PASS DGUOK 1716 broad.mit.edu 37 2 74154148 74154148 + Silent SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:74154148G>T uc002sjx.2 + 1 196 c.111G>T c.(109-111)GGG>GGT p.G37G DGUOK_uc002sjy.2_Silent_p.G37G|DGUOK_uc002sjz.2_RNA NM_080916 NP_550438 Q16854 DGUOK_HUMAN deoxyguanosine kinase isoform a precursor 37 guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage mitochondrial matrix ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor 0 CGGGGCGCGGGCCCCGAAGGC 0.657 55 91 --- --- --- --- PASS TET3 200424 broad.mit.edu 37 2 74273535 74273535 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:74273535G>C uc002skb.3 + 1 86 c.86G>C c.(85-87)GGA>GCA p.G29A TET3_uc010fez.1_Missense_Mutation_p.G29A NM_144993 NP_659430 O43151 TET3_HUMAN tet oncogene family member 3 29 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 GAGCCCGCTGGACCCAGTCTG 0.647 23 85 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89309569 89309569 + RNA SNP A T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:89309569A>T uc010ytr.1 - 74 c.6778T>A uc002stl.2_Intron Parts of antibodies, mostly variable regions. TCCCAGATCCACTGCCGCTGA 0.478 125 152 --- --- --- --- PASS PROM2 150696 broad.mit.edu 37 2 95943153 95943153 + Missense_Mutation SNP A G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:95943153A>G uc002suh.1 + 7 947 c.814A>G c.(814-816)ACA>GCA p.T272A PROM2_uc002sui.2_Missense_Mutation_p.T272A|PROM2_uc002suj.2_5'UTR|PROM2_uc002suk.2_Missense_Mutation_p.T272A|PROM2_uc002sul.2_5'UTR NM_144707 NP_653308 Q8N271 PROM2_HUMAN prominin 2 precursor 272 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane ovary(1) 1 CTTGAATGCTACAGTGGTAGA 0.647 26 61 --- --- --- --- PASS SEMA4C 54910 broad.mit.edu 37 2 97527051 97527051 + Missense_Mutation SNP T C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:97527051T>C uc002sxh.3 - 15 1974 c.1814A>G c.(1813-1815)TAC>TGC p.Y605C SEMA4C_uc002sxf.3_Missense_Mutation_p.Y105C|SEMA4C_uc002sxe.2_Missense_Mutation_p.Y146C|SEMA4C_uc002sxg.3_Missense_Mutation_p.Y658C NM_017789 NP_060259 Q9C0C4 SEM4C_HUMAN semaphorin 4C precursor 605 Extracellular (Potential).|Ig-like C2-type. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity skin(2) 2 CCGGGCATCGTAGAGGAAGGA 0.697 17 32 --- --- --- --- PASS TSGA10 80705 broad.mit.edu 37 2 99636926 99636926 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:99636926G>T uc002szg.3 - 16 2262 c.1634C>A c.(1633-1635)TCT>TAT p.S545Y TSGA10_uc002szh.3_Missense_Mutation_p.S545Y|TSGA10_uc002szi.3_Missense_Mutation_p.S545Y|TSGA10_uc010fin.1_Missense_Mutation_p.S545Y NM_182911 NP_878915 Q9BZW7 TSG10_HUMAN testis specific, 10 545 spermatogenesis cytoplasm|nuclear membrane ovary(1)|central_nervous_system(1) 2 AGAATGAGCAGAATCTAACTC 0.368 21 92 --- --- --- --- PASS SEPT10 151011 broad.mit.edu 37 2 110323374 110323374 + Silent SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:110323374G>C uc002tew.2 - 7 1204 c.825C>G c.(823-825)GTC>GTG p.V275V SEPT10_uc010ywu.1_Silent_p.V108V|SEPT10_uc002tex.2_Silent_p.V252V|SEPT10_uc002tey.2_Silent_p.V275V|SEPT10_uc010ywv.1_Silent_p.V141V|SEPT10_uc002tev.1_Silent_p.V82V|SEPT10_uc010fjo.2_RNA|SEPT10_uc002tez.1_Silent_p.V50V NM_144710 NP_653311 Q9P0V9 SEP10_HUMAN septin 10 isoform 1 275 cell cycle|cell division septin complex GTP binding 0 GGCGAGCTTTGACCATCTTGT 0.428 84 377 --- --- --- --- PASS ACOXL 55289 broad.mit.edu 37 2 111806850 111806850 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:111806850G>C uc002tgr.3 + 17 1739 c.1515G>C c.(1513-1515)CAG>CAC p.Q505H ACOXL_uc010fkc.2_Missense_Mutation_p.Q475H|ACOXL_uc010yxk.1_Missense_Mutation_p.Q475H NM_001105516 NP_001098986 Q9NUZ1 ACOXL_HUMAN acyl-Coenzyme A oxidase-like 2 505 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity 0 AAGAGGACCAGACTTTGTTAA 0.428 11 73 --- --- --- --- PASS PSD4 23550 broad.mit.edu 37 2 113943490 113943490 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:113943490C>T uc002tjc.2 + 5 1469 c.1286C>T c.(1285-1287)CCC>CTC p.P429L PSD4_uc002tjd.2_Missense_Mutation_p.P50L|PSD4_uc002tje.2_Intron|PSD4_uc002tjf.2_Missense_Mutation_p.P50L NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 429 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 GAATCTCTTCCCTGCACCTTG 0.647 17 35 --- --- --- --- PASS CFC1B 653275 broad.mit.edu 37 2 131356222 131356222 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:131356222G>T uc002tro.1 - 3 631 c.240C>A c.(238-240)TTC>TTA p.F80L NM_001079530 NP_001072998 P0CG36 CFC1B_HUMAN cripto, FRL-1, cryptic family 1B 80 gastrulation extracellular region 0 Colorectal(110;0.1) TACCCTCTCCGAAAGCCCGGG 0.592 20 126 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141128305 141128305 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:141128305C>A uc002tvj.1 - 71 11954 c.10982G>T c.(10981-10983)GGC>GTC p.G3661V NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3661 Extracellular (Potential).|LDL-receptor class A 29. 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) TTCATCACTGCCATCCACACA 0.398 TSP Lung(27;0.18) 58 320 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141128306 141128306 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:141128306C>G uc002tvj.1 - 71 11953 c.10981G>C c.(10981-10983)GGC>CGC p.G3661R NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3661 Extracellular (Potential).|LDL-receptor class A 29. 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) TCATCACTGCCATCCACACAG 0.403 TSP Lung(27;0.18) 57 318 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141250190 141250190 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:141250190G>T uc002tvj.1 - 57 10079 c.9107C>A c.(9106-9108)ACA>AAA p.T3036K NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3036 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTTTAAAAGTGTGTAGTTGGA 0.363 TSP Lung(27;0.18) 29 198 --- --- --- --- PASS ACVR1C 130399 broad.mit.edu 37 2 158406748 158406748 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:158406748C>G uc002tzk.3 - 4 944 c.701G>C c.(700-702)CGT>CCT p.R234P ACVR1C_uc002tzl.3_Missense_Mutation_p.R154P|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Missense_Mutation_p.R184P NM_145259 NP_660302 Q8NER5 ACV1C_HUMAN activin A receptor, type IC isoform 1 234 Protein kinase.|Cytoplasmic (Potential). apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity lung(3)|ovary(2)|skin(2) 7 TTCTGCCTCACGAAACCAAGA 0.433 21 199 --- --- --- --- PASS ACVR1C 130399 broad.mit.edu 37 2 158406867 158406867 + Silent SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:158406867C>A uc002tzk.3 - 4 825 c.582G>T c.(580-582)ACG>ACT p.T194T ACVR1C_uc002tzl.3_Silent_p.T114T|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Silent_p.T144T NM_145259 NP_660302 Q8NER5 ACV1C_HUMAN activin A receptor, type IC isoform 1 194 Cytoplasmic (Potential).|GS. T->D: Pro-apoptotic. apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity lung(3)|ovary(2)|skin(2) 7 GAAGCACAATCGTCCTTGCAA 0.398 36 139 --- --- --- --- PASS LY75 4065 broad.mit.edu 37 2 160755237 160755237 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:160755237C>T uc002ubc.3 - 2 497 c.428G>A c.(427-429)GGA>GAA p.G143E LY75_uc002ubb.3_Missense_Mutation_p.G143E|LY75_uc010fos.2_Missense_Mutation_p.G143E|LY75_uc010fot.1_Missense_Mutation_p.G143E NM_002349 NP_002340 O60449 LY75_HUMAN lymphocyte antigen 75 precursor 143 Extracellular (Potential).|Ricin B-type lectin. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding 0 COAD - Colon adenocarcinoma(177;0.132) CTCTGAGCCTCCTTTCTTCCA 0.502 28 112 --- --- --- --- PASS LY75 4065 broad.mit.edu 37 2 160755382 160755382 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:160755382G>T uc002ubc.3 - 2 352 c.283C>A c.(283-285)CTG>ATG p.L95M LY75_uc002ubb.3_Missense_Mutation_p.L95M|LY75_uc010fos.2_Missense_Mutation_p.L95M|LY75_uc010fot.1_Missense_Mutation_p.L95M NM_002349 NP_002340 O60449 LY75_HUMAN lymphocyte antigen 75 precursor 95 Extracellular (Potential).|Ricin B-type lectin. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding 0 COAD - Colon adenocarcinoma(177;0.132) AACATTCTCAGCTCATTTACC 0.522 66 79 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168107682 168107682 + Silent SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:168107682G>A uc002udx.2 + 8 9798 c.9780G>A c.(9778-9780)GAG>GAA p.E3260E XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.E3085E|XIRP2_uc010fpq.2_Silent_p.E3038E|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 3085 actin cytoskeleton organization cell junction actin binding p.E3260G(1) skin(7)|ovary(6)|pancreas(1) 14 ACGCTCAAGAGGAAATCAGGA 0.423 25 101 --- --- --- --- PASS G6PC2 57818 broad.mit.edu 37 2 169764111 169764111 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:169764111C>G uc002uem.2 + 5 682 c.590C>G c.(589-591)CCA>CGA p.P197R G6PC2_uc002uen.2_3'UTR|G6PC2_uc010fpv.2_Missense_Mutation_p.P81R NM_021176 NP_066999 Q9NQR9 G6PC2_HUMAN islet-specific glucose-6-phosphatase-related 197 Cytoplasmic (Potential). gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity pancreas(1) 1 GAACACACTCCAGGCATCCAA 0.517 25 169 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179441933 179441933 + Silent SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:179441933G>A uc010zfg.1 - 273 61649 c.61425C>T c.(61423-61425)CCC>CCT p.P20475P uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.P14170P|TTN_uc010zfi.1_Silent_p.P14103P|TTN_uc010zfj.1_Silent_p.P13978P|uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 21402 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) CAGGACCTGGGGGACCAGGTA 0.458 20 69 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179453427 179453427 + Nonsense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:179453427G>A uc010zfg.1 - 253 55545 c.55321C>T c.(55321-55323)CGA>TGA p.R18441* uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.R12136*|TTN_uc010zfi.1_Nonsense_Mutation_p.R12069*|TTN_uc010zfj.1_Nonsense_Mutation_p.R11944* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19368 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) GGGACCCATCGTGTTGAATGC 0.423 112 142 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179613541 179613541 + Missense_Mutation SNP G A A rs138927584 TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:179613541G>A uc002unb.2 - 46 13810 c.13586C>T c.(13585-13587)GCA>GTA p.A4529V TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 660 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) TAAATTTATTGCAATGTTAGA 0.318 43 138 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179613794 179613794 + Missense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:179613794G>A uc002unb.2 - 46 13557 c.13333C>T c.(13333-13335)CTT>TTT p.L4445F TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) TCTTCACCAAGGGATTCTTCA 0.348 26 128 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179631292 179631292 + Silent SNP G A A rs151129843 by1000genomes TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:179631292G>A uc010zfg.1 - 41 9743 c.9519C>T c.(9517-9519)GAC>GAT p.D3173D TTN_uc010zfh.1_Silent_p.D3127D|TTN_uc010zfi.1_Silent_p.D3127D|TTN_uc010zfj.1_Silent_p.D3127D|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Silent_p.D3173D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 3173 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) CATCAACATCGTCTTCATTGA 0.368 64 87 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179649052 179649052 + Silent SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:179649052G>T uc010zfg.1 - 16 2744 c.2520C>A c.(2518-2520)GCC>GCA p.A840A TTN_uc010zfh.1_Silent_p.A794A|TTN_uc010zfi.1_Silent_p.A794A|TTN_uc010zfj.1_Silent_p.A794A|TTN_uc002unb.2_Silent_p.A840A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 840 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) TTTGTAATGTGGCAATAGCAC 0.468 67 79 --- --- --- --- PASS OBSL1 23363 broad.mit.edu 37 2 220435043 220435043 + Silent SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:220435043G>C uc010fwk.2 - 1 969 c.912C>G c.(910-912)CTC>CTG p.L304L OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Silent_p.L304L|OBSL1_uc002vmj.2_Intron|INHA_uc002vmk.1_5'Flank NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 304 Ig-like 3. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) AAAGCACCTTGAGCACGAAGC 0.697 6 23 --- --- --- --- PASS ACSL3 2181 broad.mit.edu 37 2 223791784 223791784 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:223791784C>G uc002vni.2 + 12 1793 c.1342C>G c.(1342-1344)CTG>GTG p.L448V ACSL3_uc002vnj.2_Missense_Mutation_p.L448V NM_004457 NP_004448 O95573 ACSL3_HUMAN acyl-CoA synthetase long-chain family member 3 448 Cytoplasmic (Potential). long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding ovary(2) 2 Renal(207;0.0183) Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864) Icosapent(DB00159) TATTCGTCTCCTGTTGTGTGG 0.388 T ETV1 prostate 81 59 --- --- --- --- PASS CRTAP 10491 broad.mit.edu 37 3 33156012 33156012 + Missense_Mutation SNP A G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr3:33156012A>G uc003cfl.3 + 1 563 c.443A>G c.(442-444)TAC>TGC p.Y148C CRTAP_uc010hfz.2_Missense_Mutation_p.Y148C|CRTAP_uc003cfm.2_5'UTR|CRTAP_uc003cfn.2_5'UTR NM_006371 NP_006362 O75718 CRTAP_HUMAN cartilage associated protein precursor 148 proteinaceous extracellular matrix binding 0 CGCGAGCCCTACAAGTTCCTG 0.483 3 2 --- --- --- --- PASS CLASP2 23122 broad.mit.edu 37 3 33580423 33580423 + Missense_Mutation SNP T C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr3:33580423T>C uc003cfu.2 - 32 3770 c.3416A>G c.(3415-3417)TAT>TGT p.Y1139C CLASP2_uc003cfs.2_Missense_Mutation_p.Y346C|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.Y739C NM_015097 NP_055912 B2RTR1 B2RTR1_HUMAN CLIP-associating protein 2 1148 ovary(3)|central_nervous_system(1) 4 TTCTGTGTCATAATCAAATGC 0.313 15 9 --- --- --- --- PASS SCN5A 6331 broad.mit.edu 37 3 38622756 38622756 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr3:38622756C>T uc003cio.2 - 17 3088 c.2894G>A c.(2893-2895)CGC>CAC p.R965H SCN5A_uc003cin.2_Missense_Mutation_p.R965H|SCN5A_uc003cil.3_Missense_Mutation_p.R965H|SCN5A_uc010hhi.2_Missense_Mutation_p.R965H|SCN5A_uc010hhk.2_Missense_Mutation_p.R965H|SCN5A_uc011ayr.1_Missense_Mutation_p.R965H|SCN5A_uc010hhj.1_Missense_Mutation_p.R576H NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 965 R -> C (in BRS1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation). 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) CCTCTGGATGCGGGCCAGGGC 0.627 10 19 --- --- --- --- PASS DNAH12 201625 broad.mit.edu 37 3 57493430 57493430 + Silent SNP A C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr3:57493430A>C uc003dit.2 - 8 1018 c.837T>G c.(835-837)GGT>GGG p.G279G DNAH12_uc003diu.2_Silent_p.G279G NM_178504 NP_848599 Q6ZR08 DYH12_HUMAN dynein heavy chain domain 2 isoform 1 279 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity pancreas(1)|skin(1) 2 CAGGTTTAACACCTTCTAGTG 0.299 55 152 --- --- --- --- PASS MORC1 27136 broad.mit.edu 37 3 108812288 108812288 + Silent SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr3:108812288C>T uc003dxl.2 - 8 771 c.684G>A c.(682-684)CTG>CTA p.L228L MORC1_uc011bhn.1_Silent_p.L228L NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 228 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 CATACTCCTCCAGAGCTCCAG 0.438 45 88 --- --- --- --- PASS MIR567 693152 broad.mit.edu 37 3 111831716 111831716 + RNA SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr3:111831716G>T hsa-mir-567|MI0003573 + c.69G>T C3orf52_uc003dyq.3_Intron|C3orf52_uc011bhs.1_Intron|C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron 0 GGAAGAACATGCAAAACTAAA 0.328 4 26 --- --- --- --- PASS MIR567 693152 broad.mit.edu 37 3 111831717 111831717 + RNA SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr3:111831717C>G hsa-mir-567|MI0003573 + c.70C>G C3orf52_uc003dyq.3_Intron|C3orf52_uc011bhs.1_Intron|C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron 0 GAAGAACATGCAAAACTAAAA 0.328 5 27 --- --- --- --- PASS PODXL2 50512 broad.mit.edu 37 3 127379588 127379588 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr3:127379588G>T uc003ejq.2 + 3 741 c.717G>T c.(715-717)ATG>ATT p.M239I NM_015720 NP_056535 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 precursor 239 Extracellular (Potential). leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding ovary(1)|central_nervous_system(1) 2 AGAGCAGCATGGGGCCCAGCT 0.632 56 103 --- --- --- --- PASS DNAJC13 23317 broad.mit.edu 37 3 132221231 132221231 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr3:132221231G>T uc003eor.2 + 40 4700 c.4635G>T c.(4633-4635)TGG>TGT p.W1545C NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1545 heat shock protein binding ovary(1)|breast(1) 2 GAATTTTGTGGTATCTCCTTG 0.413 38 241 --- --- --- --- PASS ACPL2 92370 broad.mit.edu 37 3 141006283 141006283 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr3:141006283C>G uc003etu.2 + 7 792 c.493C>G c.(493-495)CTC>GTC p.L165V ACPL2_uc003etv.2_Missense_Mutation_p.L165V|ACPL2_uc011bna.1_Missense_Mutation_p.L127V|ACPL2_uc011bnb.1_Missense_Mutation_p.L148V NM_152282 NP_689495 Q8TE99 ACPL2_HUMAN acid phosphatase-like 2 precursor 165 extracellular region acid phosphatase activity skin(1) 1 GATGGGAGAGCTCACACAGAC 0.547 81 397 --- --- --- --- PASS SLC9A9 285195 broad.mit.edu 37 3 142985589 142985589 + Nonsense_Mutation SNP A T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr3:142985589A>T uc003evn.2 - 16 2075 c.1893T>A c.(1891-1893)TAT>TAA p.Y631* NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 631 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 GCTTGAGTTCATAGCCTCCCA 0.483 67 129 --- --- --- --- PASS WWTR1 25937 broad.mit.edu 37 3 149374962 149374962 + Silent SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr3:149374962C>A uc003exe.2 - 1 148 c.132G>T c.(130-132)CGG>CGT p.R44R WWTR1_uc003exf.2_Silent_p.R44R|WWTR1_uc011bns.1_Silent_p.R44R|WWTR1_uc003exh.2_Silent_p.R44R|uc010hvg.1_RNA|uc003exi.1_5'Flank NM_015472 NP_056287 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 44 hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(3)|skin(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GGATCTTCTTCCGCCACGAGC 0.627 26 13 --- --- --- --- PASS VEPH1 79674 broad.mit.edu 37 3 157031515 157031515 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr3:157031515C>G uc003fbj.1 - 11 2222 c.1905G>C c.(1903-1905)CAG>CAC p.Q635H VEPH1_uc003fbk.1_Missense_Mutation_p.Q635H|VEPH1_uc010hvu.1_Intron NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 635 plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CAGAATGACTCTGAATGGACA 0.463 57 210 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164757683 164757683 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr3:164757683G>C uc003fei.2 - 19 2298 c.2236C>G c.(2236-2238)CTA>GTA p.L746V NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 746 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ACCTGTTTTAGAACAGGAGTA 0.348 HNSCC(35;0.089) 82 278 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164905998 164905998 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr3:164905998G>C uc003fej.3 - 2 3065 c.2621C>G c.(2620-2622)CCT>CGT p.P874R SLITRK3_uc003fek.2_Missense_Mutation_p.P874R NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 874 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 GCCTCCCCCAGGAGGAAACAG 0.577 HNSCC(40;0.11) 67 211 --- --- --- --- PASS EIF2B5 8893 broad.mit.edu 37 3 183855722 183855722 + Missense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr3:183855722G>A uc003fmp.2 + 4 907 c.543G>A c.(541-543)ATG>ATA p.M181I EIF2B5_uc003fmq.2_5'UTR NM_003907 NP_003898 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, 181 astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding ovary(5) 5 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) TTTCTGTGATGACGATGATCT 0.478 24 186 --- --- --- --- PASS EIF4G1 1981 broad.mit.edu 37 3 184038451 184038451 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr3:184038451G>T uc003fnp.2 + 8 769 c.571G>T c.(571-573)GAT>TAT p.D191Y EIF4G1_uc003fno.1_Missense_Mutation_p.D132Y|EIF4G1_uc010hxw.1_Missense_Mutation_p.D27Y|EIF4G1_uc003fnt.2_5'UTR|EIF4G1_uc003fnq.2_Missense_Mutation_p.D104Y|EIF4G1_uc003fnr.2_Missense_Mutation_p.D27Y|EIF4G1_uc010hxx.2_Missense_Mutation_p.D198Y|EIF4G1_uc003fns.2_Missense_Mutation_p.D151Y|EIF4G1_uc010hxy.2_Missense_Mutation_p.D198Y|EIF4G1_uc010hxz.1_Missense_Mutation_p.D104Y|EIF4G1_uc003fnv.3_Missense_Mutation_p.D191Y|EIF4G1_uc003fnu.3_Missense_Mutation_p.D191Y|EIF4G1_uc003fnw.2_Missense_Mutation_p.D198Y|EIF4G1_uc003fnx.2_5'UTR|EIF4G1_uc003fny.3_5'UTR NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 191 PABPC1-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGGAGGAAAGGATATCACAGA 0.552 12 211 --- --- --- --- PASS ST6GAL1 6480 broad.mit.edu 37 3 186760650 186760650 + Missense_Mutation SNP A T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr3:186760650A>T uc003frb.2 + 4 591 c.159A>T c.(157-159)AAA>AAT p.K53N ST6GAL1_uc003frc.2_Intron|ST6GAL1_uc003frd.2_Missense_Mutation_p.K53N NM_173216 NP_775323 P15907 SIAT1_HUMAN ST6 beta-galactosamide 53 Lumenal (Potential). humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1) 1 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) GTCTGGGGAAATTGGCCATGG 0.517 58 486 --- --- --- --- PASS MASP1 5648 broad.mit.edu 37 3 186943130 186943130 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr3:186943130C>G uc003frh.1 - 13 2055 c.1723G>C c.(1723-1725)GAG>CAG p.E575Q NM_001879 NP_001870 P48740 MASP1_HUMAN mannan-binding lectin serine protease 1 isoform 575 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity ovary(2)|breast(1)|liver(1) 4 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) TGGGGTCCCTCAGGCAGACAG 0.587 78 335 --- --- --- --- PASS C3orf21 152002 broad.mit.edu 37 3 194877186 194877186 + Silent SNP T A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr3:194877186T>A uc003fum.3 - 3 885 c.777A>T c.(775-777)CCA>CCT p.P259P C3orf21_uc003ful.2_Silent_p.P56P|C3orf21_uc011bsw.1_Silent_p.P113P NM_152531 NP_689744 Q8NBI6 CC021_HUMAN hypothetical protein LOC152002 259 integral to membrane transferase activity, transferring glycosyl groups 0 all_cancers(143;9.33e-09)|Ovarian(172;0.0634) Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146) GBM - Glioblastoma multiforme(46;1.36e-05) ACCTGTAAACTGGCTGCATCT 0.567 52 143 --- --- --- --- PASS MUC4 4585 broad.mit.edu 37 3 195486098 195486098 + Silent SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr3:195486098C>T uc011bto.1 - 18 14959 c.14499G>A c.(14497-14499)GTG>GTA p.V4833V MUC4_uc003fuz.2_Silent_p.V559V|MUC4_uc003fva.2_Silent_p.V441V|MUC4_uc003fvb.2_Silent_p.V477V|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Silent_p.V477V|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Silent_p.V441V|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.V525V|MUC4_uc011bti.1_Silent_p.V525V|MUC4_uc011btj.1_Silent_p.V702V|MUC4_uc011btk.1_Silent_p.V441V|MUC4_uc011btl.1_Silent_p.V470V|MUC4_uc011btm.1_Silent_p.V650V|MUC4_uc011btn.1_Silent_p.V441V|MUC4_uc003fvo.2_Silent_p.V725V|MUC4_uc003fvp.2_Silent_p.V674V NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 1718 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGGCTTCAATCACACGACCAC 0.547 112 714 --- --- --- --- PASS KIAA0226 9711 broad.mit.edu 37 3 197423861 197423861 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr3:197423861C>T uc003fyc.2 - 8 1504 c.1321G>A c.(1321-1323)GAA>AAA p.E441K KIAA0226_uc003fyd.3_Missense_Mutation_p.E396K|KIAA0226_uc003fye.1_Missense_Mutation_p.E148K|KIAA0226_uc003fyf.2_Missense_Mutation_p.E289K NM_014687 NP_055502 Q92622 RUBIC_HUMAN hypothetical protein LOC9711 isoform 2. 441 Ser-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding 0 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) GTGCTGACTTCACTGCTTTGA 0.468 38 139 --- --- --- --- PASS NOP14 8602 broad.mit.edu 37 4 2951675 2951675 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr4:2951675G>C uc003ggj.1 - 8 1340 c.1268C>G c.(1267-1269)CCC>CGC p.P423R C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Missense_Mutation_p.P169R|NOP14_uc003ggk.3_Missense_Mutation_p.P423R|NOP14_uc003ggl.2_Missense_Mutation_p.P423R NM_003703 NP_003694 P78316 NOP14_HUMAN probable nucleolar complex protein 14 423 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding pancreas(1) 1 GAACGTGTAGGGCAGCTCGTC 0.552 101 212 --- --- --- --- PASS CPZ 8532 broad.mit.edu 37 4 8602926 8602926 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr4:8602926G>T uc003glm.2 + 3 324 c.198G>T c.(196-198)CAG>CAT p.Q66H CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_5'UTR|CPZ_uc003glo.2_Missense_Mutation_p.Q55H|CPZ_uc003glp.2_RNA NM_001014447 NP_001014447 Q66K79 CBPZ_HUMAN carboxypeptidase Z isoform 1 66 FZ. proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2)|pancreas(1) 3 ACCTGCTTCAGCACCGGTCAT 0.652 56 25 --- --- --- --- PASS PHOX2B 8929 broad.mit.edu 37 4 41750405 41750405 + Missense_Mutation SNP T A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr4:41750405T>A uc003gwf.3 - 1 583 c.223A>T c.(223-225)AGC>TGC p.S75C NM_003924 NP_003915 Q99453 PHX2B_HUMAN paired-like homeobox 2b 75 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1) 12 TACGGACTGCTCTGGTGGTCC 0.582 Mis|F neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 28 63 --- --- --- --- PASS GABRG1 2565 broad.mit.edu 37 4 46060612 46060612 + Missense_Mutation SNP T C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr4:46060612T>C uc003gxb.2 - 6 805 c.653A>G c.(652-654)TAT>TGT p.Y218C NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 218 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TTTCCACTTATACTCAATTTC 0.358 18 87 --- --- --- --- PASS GABRA4 2557 broad.mit.edu 37 4 46930261 46930261 + Missense_Mutation SNP T A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr4:46930261T>A uc003gxg.2 - 9 1785 c.1646A>T c.(1645-1647)AAA>ATA p.K549I NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 549 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ACTTTCTGATTTCTCCATAGT 0.279 52 85 --- --- --- --- PASS CNGA1 1259 broad.mit.edu 37 4 47939169 47939169 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr4:47939169C>A uc003gxt.3 - 11 1608 c.1342G>T c.(1342-1344)GTT>TTT p.V448F uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.V517F NM_000087 NP_000078 P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 isoform 448 Extracellular (Potential). response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity ovary(2) 2 TTCTCATCAACTGTTTTTTTG 0.338 76 367 --- --- --- --- PASS ART3 419 broad.mit.edu 37 4 77003475 77003475 + Missense_Mutation SNP A G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr4:77003475A>G uc003hjo.2 + 3 687 c.568A>G c.(568-570)AAA>GAA p.K190E ART3_uc003hji.2_Missense_Mutation_p.K190E|ART3_uc003hjj.2_Missense_Mutation_p.K190E|ART3_uc003hjk.2_Missense_Mutation_p.K190E|ART3_uc010ija.1_Missense_Mutation_p.K190E|ART3_uc003hjn.2_Missense_Mutation_p.K190E|ART3_uc003hjp.2_Intron|ART3_uc010ijb.2_Intron|ART3_uc003hjq.2_Intron|ART3_uc003hjr.2_Missense_Mutation_p.K160E|ART3_uc010ijc.2_Missense_Mutation_p.K160E|ART3_uc010ijd.2_Missense_Mutation_p.K160E NM_001130016 NP_001123488 Q13508 NAR3_HUMAN ADP-ribosyltransferase 3 isoform a 190 protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity ovary(2) 2 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) ATATTCAGCCAAACCTCAGGC 0.408 5 116 --- --- --- --- PASS SHROOM3 57619 broad.mit.edu 37 4 77677699 77677699 + Missense_Mutation SNP A T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr4:77677699A>T uc011cbx.1 + 8 5760 c.4807A>T c.(4807-4809)ACT>TCT p.T1603S SHROOM3_uc003hkg.2_Missense_Mutation_p.T1381S NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 1603 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) CAGACTCCAAACTTCTATCAA 0.532 8 77 --- --- --- --- PASS ANKRD56 345079 broad.mit.edu 37 4 77817078 77817078 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr4:77817078C>A uc003hki.2 - 1 1925 c.1925G>T c.(1924-1926)GGT>GTT p.G642V NM_001029870 NP_001025041 A6NEL2 ANR56_HUMAN ankyrin repeat domain 56 642 ANK 1. 0 CCTGAGGTCACCATGTTTGGC 0.522 78 138 --- --- --- --- PASS MRPL1 65008 broad.mit.edu 37 4 78792917 78792917 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr4:78792917G>T uc003hku.2 + 2 249 c.51G>T c.(49-51)AGG>AGT p.R17S NM_020236 NP_064621 Q9BYD6 RM01_HUMAN mitochondrial ribosomal protein L1 precursor 17 RNA binding 0 ATCATCAAAGGCATAGCCTTT 0.289 54 148 --- --- --- --- PASS HERC3 8916 broad.mit.edu 37 4 89574024 89574024 + Silent SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr4:89574024C>G uc003hrw.1 + 6 634 c.468C>G c.(466-468)GGC>GGG p.G156G HERC3_uc003hrv.2_Silent_p.G156G|HERC3_uc011cdn.1_Silent_p.G38G NM_014606 NP_055421 Q15034 HERC3_HUMAN hect domain and RLD 3 156 RCC1 4. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity lung(2)|prostate(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(123;0.000319) TTTCAGATGGCCAGTTCTTCA 0.498 28 31 --- --- --- --- PASS FAM190A 401145 broad.mit.edu 37 4 91230459 91230459 + Missense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr4:91230459G>A uc003hsv.3 + 2 1364 c.1024G>A c.(1024-1026)GCT>ACT p.A342T FAM190A_uc003hsu.3_Missense_Mutation_p.A342T|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.A342T NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN KIAA1680 protein isoform 1 342 large_intestine(1)|ovary(1) 2 GGAAACCTCTGCTGCTAATCA 0.423 53 54 --- --- --- --- PASS TET2 54790 broad.mit.edu 37 4 106155423 106155423 + Silent SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr4:106155423G>A uc003hxk.2 + 3 710 c.324G>A c.(322-324)CAG>CAA p.Q108Q TET2_uc011cez.1_Silent_p.Q129Q|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Silent_p.Q108Q|TET2_uc003hxi.1_Silent_p.Q108Q NM_001127208 NP_001120680 Q6N021 TET2_HUMAN tet oncogene family member 2 isoform a 108 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.Q108*(1) haematopoietic_and_lymphoid_tissue(732)|pancreas(1) 733 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) GGCTCCTTCAGATCAAGAAAT 0.418 Mis N|F MDS 25 66 --- --- --- --- PASS LARP7 51574 broad.mit.edu 37 4 113568940 113568940 + Silent SNP A G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr4:113568940A>G uc003iay.2 + 8 1370 c.1092A>G c.(1090-1092)AAA>AAG p.K364K LARP7_uc003iaz.2_Silent_p.K371K|LARP7_uc003iba.2_Silent_p.K285K|LARP7_uc003ibb.2_Silent_p.K364K NM_016648 NP_057732 Q4G0J3 LARP7_HUMAN La ribonucleoprotein domain family, member 7 364 Lys-rich. RNA processing nucleoplasm|ribonucleoprotein complex nucleotide binding|RNA binding ovary(3) 3 Ovarian(17;0.0443)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000603) AAAAACATAAAGAGAGACATA 0.323 24 20 --- --- --- --- PASS GAB1 2549 broad.mit.edu 37 4 144390336 144390336 + Silent SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr4:144390336G>C uc003ije.2 + 10 2438 c.2079G>C c.(2077-2079)GTG>GTC p.V693V GAB1_uc003ijd.2_Silent_p.V723V|GAB1_uc011chq.1_Silent_p.V590V NM_002039 NP_002030 Q13480 GAB1_HUMAN GRB2-associated binding protein 1 isoform b 693 cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity breast(2)|lung(1)|skin(1) 4 all_hematologic(180;0.158) CGAAGAGTGTGAAATGAAAAT 0.418 22 48 --- --- --- --- PASS MMAA 166785 broad.mit.edu 37 4 146576521 146576521 + Missense_Mutation SNP A C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr4:146576521A>C uc003ikh.3 + 7 1277 c.1192A>C c.(1192-1194)ATT>CTT p.I398L MMAA_uc010iow.2_RNA NM_172250 NP_758454 Q8IVH4 MMAA_HUMAN methylmalonic aciduria type A precursor 398 mitochondrion GTP binding|nucleoside-triphosphatase activity ovary(1) 1 all_hematologic(180;0.151) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAAGGTTCTCATTGGGGCCCT 0.413 34 116 --- --- --- --- PASS ADAM29 11086 broad.mit.edu 37 4 175898418 175898418 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr4:175898418G>T uc003iuc.2 + 5 2412 c.1742G>T c.(1741-1743)TGC>TTC p.C581F ADAM29_uc003iud.2_Missense_Mutation_p.C581F|ADAM29_uc010irr.2_Missense_Mutation_p.C581F|ADAM29_uc011cki.1_Missense_Mutation_p.C581F NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 581 Cys-rich.|Extracellular (Potential). proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GACATAATGTGCTGGAGTACT 0.433 80 143 --- --- --- --- PASS WDR17 116966 broad.mit.edu 37 4 177032792 177032792 + Missense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr4:177032792G>A uc003iuj.2 + 3 289 c.133G>A c.(133-135)GTA>ATA p.V45I WDR17_uc003iuk.2_Missense_Mutation_p.V21I|WDR17_uc003ium.3_Missense_Mutation_p.V21I|WDR17_uc003iul.1_Missense_Mutation_p.V21I NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 45 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) GAACAAGGATGTATGTGCTGC 0.398 19 41 --- --- --- --- PASS WWC2 80014 broad.mit.edu 37 4 184182512 184182512 + Missense_Mutation SNP A G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr4:184182512A>G uc010irx.2 + 11 1918 c.1736A>G c.(1735-1737)CAT>CGT p.H579R WWC2_uc003ivk.3_Missense_Mutation_p.H374R|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Missense_Mutation_p.H261R|WWC2_uc003ivn.3_Missense_Mutation_p.H143R NM_024949 NP_079225 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 579 ovary(2)|lung(1) 3 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) GCCTCTCTCCATCAGTTCACT 0.483 3 14 --- --- --- --- PASS SLC6A3 6531 broad.mit.edu 37 5 1432617 1432617 + Silent SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:1432617G>A uc003jck.2 - 4 736 c.615C>T c.(613-615)AAC>AAT p.N205N NM_001044 NP_001035 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter 205 Extracellular (Potential). cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body ovary(3)|breast(2)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) CAAAAGTGTCGTTGAGGCCCG 0.617 19 190 --- --- --- --- PASS LPCAT1 79888 broad.mit.edu 37 5 1479781 1479781 + Silent SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:1479781G>A uc003jcm.2 - 8 888 c.771C>T c.(769-771)ATC>ATT p.I257I NM_024830 NP_079106 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 257 Lumenal (Potential). phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) TGAGCCACAGGATTTCCAGCC 0.463 OREG0016481 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 129 --- --- --- --- PASS MRPL36 64979 broad.mit.edu 37 5 1798922 1798922 + Missense_Mutation SNP T C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:1798922T>C uc003jcx.3 - 2 191 c.128A>G c.(127-129)GAA>GGA p.E43G NDUFS6_uc003jcy.2_5'Flank NM_032479 NP_115868 Q9P0J6 RM36_HUMAN mitochondrial ribosomal protein L36 precursor 43 translation mitochondrial large ribosomal subunit structural constituent of ribosome 0 GBM - Glioblastoma multiforme(108;0.241) TGCCCCGGGTTCCACAGCCAC 0.592 58 117 --- --- --- --- PASS RAI14 26064 broad.mit.edu 37 5 34824081 34824081 + Missense_Mutation SNP G C C rs138949061 TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:34824081G>C uc003jir.2 + 15 2330 c.2134G>C c.(2134-2136)GAG>CAG p.E712Q RAI14_uc010iur.2_Missense_Mutation_p.E683Q|RAI14_uc011coj.1_Missense_Mutation_p.E712Q|RAI14_uc003jis.2_Missense_Mutation_p.E715Q|RAI14_uc003jit.2_Missense_Mutation_p.E712Q|RAI14_uc011cok.1_Missense_Mutation_p.E704Q NM_015577 NP_056392 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 isoform a 712 Potential. cell cortex|cytoskeleton protein binding ovary(1) 1 all_lung(31;0.000191) AGTGTTGAATGAGTTGACCCA 0.438 47 100 --- --- --- --- PASS AGXT2 64902 broad.mit.edu 37 5 35035343 35035343 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:35035343C>G uc003jjf.2 - 5 644 c.565G>C c.(565-567)GAC>CAC p.D189H AGXT2_uc011com.1_Missense_Mutation_p.D189H|AGXT2_uc011con.1_Missense_Mutation_p.D97H NM_031900 NP_114106 Q9BYV1 AGT2_HUMAN alanine-glyoxylate aminotransferase 2 precursor 189 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(3)|skin(1) 4 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) GAAATGATGTCTATGTTGTTT 0.443 45 318 --- --- --- --- PASS KIF2A 3796 broad.mit.edu 37 5 61681323 61681323 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:61681323C>G uc003jsy.3 + 20 2359 c.2048C>G c.(2047-2049)TCT>TGT p.S683C KIF2A_uc003jsz.3_Missense_Mutation_p.S721C|KIF2A_uc010iwp.2_Missense_Mutation_p.S664C|KIF2A_uc003jsx.3_Missense_Mutation_p.S663C|KIF2A_uc010iwq.2_Missense_Mutation_p.S486C NM_004520 NP_004511 O00139 KIF2A_HUMAN kinesin heavy chain member 2 isoform 1 683 Potential. blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development centrosome|cytosol|microtubule|spindle pole ATP binding|microtubule motor activity|protein binding 0 Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.14) AAAGTGAAATCTTTCCGTGCA 0.428 3 6 --- --- --- --- PASS MAP1B 4131 broad.mit.edu 37 5 71489755 71489755 + Silent SNP T C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:71489755T>C uc003kbw.3 + 5 814 c.573T>C c.(571-573)CCT>CCC p.P191P MAP1B_uc010iyw.1_Silent_p.P208P|MAP1B_uc010iyx.1_Silent_p.P65P|MAP1B_uc010iyy.1_Silent_p.P65P NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 191 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) TGTTCTGTCCTGAAGAAGGGG 0.398 4 126 --- --- --- --- PASS AP3B1 8546 broad.mit.edu 37 5 77334898 77334898 + Silent SNP T A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:77334898T>A uc003kfj.2 - 23 2903 c.2778A>T c.(2776-2778)ATA>ATT p.I926I NM_003664 NP_003655 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 926 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity central_nervous_system(1) 1 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) TTTTCATGCCTATAGGAAGTT 0.269 Hermansky-Pudlak_syndrome 25 39 --- --- --- --- PASS AP3B1 8546 broad.mit.edu 37 5 77334899 77334899 + Missense_Mutation SNP A T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:77334899A>T uc003kfj.2 - 23 2902 c.2777T>A c.(2776-2778)ATA>AAA p.I926K NM_003664 NP_003655 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 926 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity central_nervous_system(1) 1 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) TTTCATGCCTATAGGAAGTTT 0.269 Hermansky-Pudlak_syndrome 26 39 --- --- --- --- PASS PCSK1 5122 broad.mit.edu 37 5 95728914 95728914 + Missense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:95728914G>A uc003kls.1 - 14 2259 c.2053C>T c.(2053-2055)CCA>TCA p.P685S PCSK1_uc010jbi.1_Missense_Mutation_p.P375S NM_000439 NP_000430 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 685 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity ovary(2) 2 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GACTTCTTTGGTGATTGCTTT 0.512 6 233 --- --- --- --- PASS SLC12A2 6558 broad.mit.edu 37 5 127420339 127420339 + Silent SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:127420339C>A uc003kus.2 + 1 857 c.693C>A c.(691-693)GCC>GCA p.A231A FLJ33630_uc003kun.2_5'Flank|FLJ33630_uc003kuo.2_5'Flank|FLJ33630_uc003kup.1_5'Flank|FLJ33630_uc003kuq.1_5'Flank|FLJ33630_uc003kur.2_5'Flank|SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Silent_p.A231A NM_001046 NP_001037 P55011 S12A2_HUMAN solute carrier family 12 231 Cytoplasmic (Potential). potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity ovary(3) 3 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) GGCACACAGCCGCGCAGCTGG 0.622 8 28 --- --- --- --- PASS SEC24A 10802 broad.mit.edu 37 5 134018131 134018131 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:134018131C>G uc003kzs.2 + 9 1738 c.1450C>G c.(1450-1452)CAA>GAA p.Q484E SEC24A_uc011cxu.1_Missense_Mutation_p.Q248E NM_021982 NP_068817 O95486 SC24A_HUMAN SEC24 related gene family, member A 484 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACCAGAAGTTCAAAATGCTAC 0.308 93 51 --- --- --- --- PASS ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139886511 139886511 + Missense_Mutation SNP A T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:139886511A>T uc003lfs.1 + 19 3624 c.3500A>T c.(3499-3501)TAT>TTT p.Y1167F ANKHD1_uc003lfq.1_Missense_Mutation_p.Y1186F|ANKHD1_uc003lfr.2_Missense_Mutation_p.Y1167F|ANKHD1_uc003lft.1_Missense_Mutation_p.Y378F|ANKHD1_uc003lfu.1_Missense_Mutation_p.Y647F|ANKHD1_uc003lfv.1_Missense_Mutation_p.Y244F|ANKHD1-EIF4EBP3_uc011czh.1_5'Flank NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 1167 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTGGAGGATATGTTAATATC 0.383 133 81 --- --- --- --- PASS PCDHA8 56140 broad.mit.edu 37 5 140221129 140221129 + Silent SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:140221129C>T uc003lhs.2 + 1 223 c.223C>T c.(223-225)CTG>TTG p.L75L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.L75L NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 75 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGGGACCTTCTGGAGGTAAG 0.647 86 299 --- --- --- --- PASS PCDHB7 56129 broad.mit.edu 37 5 140554031 140554031 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:140554031C>A uc003lit.2 + 1 1789 c.1615C>A c.(1615-1617)CCC>ACC p.P539T NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 539 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGCGGCTCCCCCGCGCTGAG 0.692 59 36 --- --- --- --- PASS PCDHB7 56129 broad.mit.edu 37 5 140554309 140554309 + Silent SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:140554309C>T uc003lit.2 + 1 2067 c.1893C>T c.(1891-1893)AGC>AGT p.S631S NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 631 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCTGCTGAGCGAGCGCGACG 0.687 39 292 --- --- --- --- PASS PCDHB8 56128 broad.mit.edu 37 5 140559155 140559155 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:140559155C>G uc011dai.1 + 1 1726 c.1540C>G c.(1540-1542)CTG>GTG p.L514V PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 514 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAACGGCCACCTGTTCGCCCT 0.687 70 400 --- --- --- --- PASS PCDHB8 56128 broad.mit.edu 37 5 140559354 140559354 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:140559354C>T uc011dai.1 + 1 1925 c.1739C>T c.(1738-1740)GCG>GTG p.A580V PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 580 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTGCCCCGGGCGGCCGAGCCG 0.706 25 110 --- --- --- --- PASS PCDHGC4 56098 broad.mit.edu 37 5 140865571 140865571 + Silent SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:140865571C>T uc003lky.1 + 1 831 c.831C>T c.(829-831)GTC>GTT p.V277V 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_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Silent_p.V277V NM_018928 NP_061751 Q9Y5F7 PCDGL_HUMAN protocadherin gamma subfamily C, 4 isoform 1 277 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGTAACGTCACCTTTTATT 0.527 34 138 --- --- --- --- PASS AFAP1L1 134265 broad.mit.edu 37 5 148712284 148712284 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:148712284G>T uc003lqh.2 + 17 2133 c.2002G>T c.(2002-2004)GCC>TCC p.A668S AFAP1L1_uc010jgy.2_Missense_Mutation_p.A668S|AFAP1L1_uc003lqi.1_Missense_Mutation_p.A283S NM_152406 NP_689619 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 668 Potential. protein binding breast(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTGGAAGAAGCCGTGGCCAC 0.547 6 45 --- --- --- --- PASS RBM22 55696 broad.mit.edu 37 5 150071393 150071393 + Missense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:150071393G>A uc003lst.2 - 11 1305 c.1183C>T c.(1183-1185)CGG>TGG p.R395W NM_018047 NP_060517 Q9NW64 RBM22_HUMAN RNA binding motif protein 22 395 Pro-rich. protein import into nucleus, translocation catalytic step 2 spliceosome|cytoplasm calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding 0 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTGGAGCCCGCATGAAAGGA 0.537 4 147 --- --- --- --- PASS ANXA6 309 broad.mit.edu 37 5 150488040 150488040 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:150488040C>T uc003ltl.1 - 23 1908 c.1756G>A c.(1756-1758)GTC>ATC p.V586I ANXA6_uc011dcp.1_Missense_Mutation_p.V554I|ANXA6_uc003ltm.1_Missense_Mutation_p.V580I|ANXA6_uc003ltn.1_Missense_Mutation_p.V373I|ANXA6_uc003lto.1_Missense_Mutation_p.V173I NM_001155 NP_001146 P08133 ANXA6_HUMAN annexin VI isoform 1 586 Annexin 7. melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding 0 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCATCCCTGACATCCCCAGAC 0.527 11 266 --- --- --- --- PASS MED7 9443 broad.mit.edu 37 5 156566273 156566273 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:156566273C>G uc010jik.2 - 2 562 c.170G>C c.(169-171)CGC>CCC p.R57P MED7_uc003lwm.3_Missense_Mutation_p.R57P NM_001100816 NP_001094286 O43513 MED7_HUMAN mediator complex subunit 7 57 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex protein binding|transcription coactivator activity 0 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTCCAAAGGGCGGATGATAAG 0.398 26 131 --- --- --- --- PASS GABRG2 2566 broad.mit.edu 37 5 161580227 161580227 + Silent SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:161580227C>T uc003lyz.3 + 9 1615 c.1257C>T c.(1255-1257)TGC>TGT p.C419C GABRG2_uc010jjc.2_Silent_p.C467C|GABRG2_uc003lyy.3_Silent_p.C427C|GABRG2_uc011dej.1_Silent_p.C324C NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 419 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) GTTTTTTCTGCTGTTTTGAAG 0.468 129 76 --- --- --- --- PASS RARS 5917 broad.mit.edu 37 5 167943953 167943953 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:167943953C>G uc003lzx.2 + 13 1664 c.1623C>G c.(1621-1623)ATC>ATG p.I541M RARS_uc011deo.1_Missense_Mutation_p.I335M NM_002887 NP_002878 P54136 SYRC_HUMAN arginyl-tRNA synthetase 541 arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding ovary(2)|skin(1) 3 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) TCACTAGAATCAGGTAATTGT 0.338 58 277 --- --- --- --- PASS SH3PXD2B 285590 broad.mit.edu 37 5 171766306 171766306 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:171766306C>A uc003mbr.2 - 13 1974 c.1803G>T c.(1801-1803)AAG>AAT p.K601N NM_001017995 NP_001017995 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 601 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGGCCAAGACCTTGTGGCCAC 0.567 77 51 --- --- --- --- PASS STC2 8614 broad.mit.edu 37 5 172755103 172755103 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:172755103C>G uc003mco.1 - 1 1404 c.94G>C c.(94-96)GAG>CAG p.E32Q STC2_uc003mcn.1_5'Flank NM_003714 NP_003705 O76061 STC2_HUMAN stanniocalcin 2 precursor 32 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity skin(2)|ovary(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TGGGGACCCTCGGGTGGGTTG 0.647 29 124 --- --- --- --- PASS KIAA1191 57179 broad.mit.edu 37 5 175782611 175782611 + Missense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:175782611G>A uc003mdw.2 - 4 542 c.170C>T c.(169-171)CCA>CTA p.P57L KIAA1191_uc003mdx.2_Missense_Mutation_p.P38L|KIAA1191_uc003mdy.2_Missense_Mutation_p.P57L|KIAA1191_uc003mea.2_Intron|KIAA1191_uc003mdz.2_Intron NM_020444 NP_065177 Q96A73 K1191_HUMAN hypothetical protein LOC57179 isoform a 57 protein binding ovary(1) 1 all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.101) TGGAATCACTGGCTTCCAAGG 0.577 44 134 --- --- --- --- PASS RMND5B 64777 broad.mit.edu 37 5 177573150 177573150 + Silent SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr5:177573150C>A uc003mim.2 + 8 910 c.730C>A c.(730-732)CGG>AGG p.R244R RMND5B_uc003min.2_Silent_p.R244R|RMND5B_uc003mio.2_Silent_p.R231R|RMND5B_uc003mip.2_Silent_p.R244R|RMND5B_uc011dgf.1_Silent_p.R285R|RMND5B_uc003miq.2_Silent_p.R184R NM_022762 NP_073599 Q96G75 RMD5B_HUMAN required for meiotic nuclear division 5 homolog 244 ovary(1)|skin(1) 2 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGTGTACCTGCGGCTGGGCTT 0.642 OREG0017097 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 17 --- --- --- --- PASS IRF4 3662 broad.mit.edu 37 6 401482 401482 + Silent SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr6:401482G>A uc003msz.3 + 7 917 c.804G>A c.(802-804)ACG>ACA p.T268T IRF4_uc010jne.1_Silent_p.T268T|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Silent_p.T267T|IRF4_uc003mtc.1_Silent_p.T98T NM_002460 NP_002451 Q15306 IRF4_HUMAN interferon regulatory factor 4 268 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(1) 1 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) AGCTGACCACGTCCAGCCCCG 0.612 T IGH@ MM 52 30 --- --- --- --- PASS PHACTR1 221692 broad.mit.edu 37 6 13228281 13228281 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr6:13228281G>T uc010jpc.2 + 9 1552 c.1220G>T c.(1219-1221)AGC>ATC p.S407I PHACTR1_uc011dir.1_Missense_Mutation_p.S476I|PHACTR1_uc003nag.1_Missense_Mutation_p.S407I|PHACTR1_uc003nah.1_Missense_Mutation_p.S407I NM_030948 NP_112210 Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 407 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity 0 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) GACGACGACAGCTCATTATAC 0.333 32 31 --- --- --- --- PASS HIST1H2AM 8336 broad.mit.edu 37 6 27860774 27860774 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr6:27860774G>C uc003nkb.1 - 1 190 c.154C>G c.(154-156)CTG>GTG p.L52V HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank NM_003514 NP_003505 P0C0S8 H2A1_HUMAN histone cluster 1, H2am 52 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding ovary(2) 2 ACCGCCGCCAGGTAAACCGGC 0.652 26 83 --- --- --- --- PASS WDR46 9277 broad.mit.edu 37 6 33254660 33254660 + Silent SNP A G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr6:33254660A>G uc003ods.2 - 10 1071 c.1027T>C c.(1027-1029)TTA>CTA p.L343L WDR46_uc011dra.1_Silent_p.L289L|WDR46_uc010juo.1_RNA|PFDN6_uc003odt.1_5'Flank|PFDN6_uc010jup.1_5'Flank NM_005452 NP_005443 O15213 WDR46_HUMAN WD repeat domain 46 isoform 1 343 WD 4. 0 GGACTCCATAAAGACACAGTA 0.483 61 144 --- --- --- --- PASS ZNF292 23036 broad.mit.edu 37 6 87969026 87969026 + Silent SNP A G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr6:87969026A>G uc003plm.3 + 8 5720 c.5679A>G c.(5677-5679)CAA>CAG p.Q1893Q NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 1893 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) TAAACATTCAATTTAATGACA 0.358 5 77 --- --- --- --- PASS MAP3K5 4217 broad.mit.edu 37 6 136990473 136990473 + Silent SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr6:136990473G>C uc003qhc.2 - 8 1675 c.1314C>G c.(1312-1314)CTC>CTG p.L438L MAP3K5_uc011edk.1_Silent_p.L283L|MAP3K5_uc010kgw.1_Silent_p.L438L NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 438 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding ovary(2)|skin(2)|lung(1) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) CTGCCAGGAGGAGGACCGCAT 0.388 32 117 --- --- --- --- PASS TAB2 23118 broad.mit.edu 37 6 149700431 149700431 + Silent SNP G A A rs150699204 byFrequency TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr6:149700431G>A uc003qmj.2 + 3 1558 c.1380G>A c.(1378-1380)ACG>ACA p.T460T TAB2_uc011eec.1_Silent_p.T428T|TAB2_uc010kia.1_Silent_p.T460T|TAB2_uc010kib.1_Silent_p.T460T|TAB2_uc003qmk.3_RNA NM_015093 NP_055908 Q9NYJ8 TAB2_HUMAN mitogen-activated protein kinase kinase kinase 7 460 activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding 0 AGCCCAATACGAAATACACTT 0.463 33 93 --- --- --- --- PASS C6orf70 55780 broad.mit.edu 37 6 170169794 170169794 + Silent SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr6:170169794G>A uc003qxg.1 + 12 1251 c.1218G>A c.(1216-1218)CTG>CTA p.L406L C6orf70_uc011ehb.1_Silent_p.L280L|C6orf70_uc003qxh.1_Silent_p.L406L|C6orf70_uc010kky.1_Silent_p.L280L|C6orf70_uc003qxi.1_Silent_p.L54L NM_018341 NP_060811 Q5T6L9 CF070_HUMAN hypothetical protein LOC55780 406 Helical; (Potential). integral to membrane ovary(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) ATGACTGTCTGCTATCAGTTT 0.308 9 52 --- --- --- --- PASS PHF14 9678 broad.mit.edu 37 7 11075331 11075331 + Missense_Mutation SNP A G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr7:11075331A>G uc003sry.1 + 8 1955 c.1520A>G c.(1519-1521)AAG>AGG p.K507R PHF14_uc011jxi.1_Missense_Mutation_p.K222R|PHF14_uc003srz.2_Missense_Mutation_p.K507R|PHF14_uc011jxj.1_Missense_Mutation_p.K222R NM_014660 NP_055475 O94880 PHF14_HUMAN PHD finger protein 14 isoform 2 507 zinc ion binding kidney(2)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) AGAAAGTGGAAGAGAAAAAAC 0.368 51 179 --- --- --- --- PASS TXNDC3 51314 broad.mit.edu 37 7 37924760 37924760 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr7:37924760G>T uc003tfn.2 + 14 1525 c.1153G>T c.(1153-1155)GCC>TCC p.A385S NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 385 NDK 2. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 TCCATCTCTAGCCCTTGTTTT 0.358 Kartagener_syndrome 17 49 --- --- --- --- PASS DDX56 54606 broad.mit.edu 37 7 44612228 44612228 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr7:44612228C>T uc003tlg.2 - 4 1142 c.499G>A c.(499-501)GAA>AAA p.E167K DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Missense_Mutation_p.E103K|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Missense_Mutation_p.E167K|DDX56_uc010kyh.1_RNA NM_019082 NP_061955 Q9NY93 DDX56_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 167 DEAD box.|Helicase ATP-binding. rRNA processing nucleolus ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding upper_aerodigestive_tract(1) 1 AGGTCAGCTTCGTCCACCACC 0.498 61 196 --- --- --- --- PASS OGDH 4967 broad.mit.edu 37 7 44739744 44739744 + Missense_Mutation SNP T G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr7:44739744T>G uc003tln.2 + 19 2544 c.2435T>G c.(2434-2436)CTT>CGT p.L812R OGDH_uc011kbx.1_Missense_Mutation_p.L808R|OGDH_uc011kby.1_Missense_Mutation_p.L662R|OGDH_uc003tlp.2_Missense_Mutation_p.L823R|OGDH_uc011kbz.1_Missense_Mutation_p.L607R NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 812 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) CTGCAGGACCTTAAAGAAGCC 0.488 53 192 --- --- --- --- PASS H2AFV 94239 broad.mit.edu 37 7 44874124 44874124 + Silent SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr7:44874124C>T uc003tma.2 - 5 518 c.363G>A c.(361-363)AAG>AAA p.K121K H2AFV_uc003tlz.2_Intron|H2AFV_uc011kca.1_5'Flank|H2AFV_uc003tmb.2_Silent_p.K83K|H2AFV_uc003tmc.2_3'UTR|H2AFV_uc003tmd.2_Silent_p.K95K NM_012412 NP_036544 Q71UI9 H2AV_HUMAN H2A histone family, member V isoform 1 121 nucleosome assembly nucleosome|nucleus DNA binding 0 GCTGTCCCTTCTTTCCAATCA 0.373 18 67 --- --- --- --- PASS SUN3 256979 broad.mit.edu 37 7 48056919 48056919 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr7:48056919C>G uc003tof.2 - 4 325 c.228G>C c.(226-228)CAG>CAC p.Q76H SUN3_uc003tog.2_Missense_Mutation_p.Q76H|SUN3_uc011kcf.1_Missense_Mutation_p.Q64H NM_152782 NP_689995 Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 1 76 integral to membrane central_nervous_system(1) 1 GTCTGGATTTCTGAGGAACAT 0.289 7 67 --- --- --- --- PASS PHKG1 5260 broad.mit.edu 37 7 56149926 56149926 + Missense_Mutation SNP A T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr7:56149926A>T uc003trz.1 - 7 763 c.568T>A c.(568-570)TAC>AAC p.Y190N PSPH_uc003trj.2_Intron|PHKG1_uc003try.1_Missense_Mutation_p.Y84N|PHKG1_uc011kdb.1_Missense_Mutation_p.Y222N|PHKG1_uc011kdc.1_Missense_Mutation_p.Y181N|PHKG1_uc011kdd.1_Missense_Mutation_p.Y136N NM_006213 NP_006204 Q16816 PHKG1_HUMAN phosphorylase kinase gamma subunit 1 190 Protein kinase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity large_intestine(1) 1 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GGGGCCAGGTAACTGGGGGTC 0.527 11 58 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82585285 82585285 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr7:82585285C>T uc003uhx.2 - 5 5273 c.4984G>A c.(4984-4986)GGA>AGA p.G1662R PCLO_uc003uhv.2_Missense_Mutation_p.G1662R NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1593 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CGTAGCCCTCCTCCTCCAGTA 0.368 15 181 --- --- --- --- PASS AKAP9 10142 broad.mit.edu 37 7 91715617 91715617 + Missense_Mutation SNP T C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr7:91715617T>C uc003ulg.2 + 37 9325 c.9100T>C c.(9100-9102)TTC>CTC p.F3034L AKAP9_uc003ulf.2_Missense_Mutation_p.F3026L|AKAP9_uc003uli.2_Missense_Mutation_p.F2657L|AKAP9_uc003ulj.2_Missense_Mutation_p.F804L|AKAP9_uc003ulk.2_Missense_Mutation_p.F309L NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 3038 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TCAACAAGTTTTCTTAGAAGA 0.423 T BRAF papillary thyroid 108 440 --- --- --- --- PASS ANKIB1 54467 broad.mit.edu 37 7 92000830 92000830 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr7:92000830G>T uc003ulw.2 + 11 1902 c.1526G>T c.(1525-1527)TGT>TTT p.C509F ANKIB1_uc010lew.1_5'UTR NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 509 protein binding|zinc ion binding lung(1) 1 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GCCGCCAATTGTCTCTGGTTA 0.408 6 30 --- --- --- --- PASS CUX1 1523 broad.mit.edu 37 7 101870950 101870950 + Splice_Site SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr7:101870950G>T uc003uyx.3 + 21 3471 c.3433_splice c.e21+1 p.G1145_splice CUX1_uc003uys.3_Splice_Site_p.G1156_splice|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 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 AACAACCTCGGTAGGTTCTCC 0.597 14 88 --- --- --- --- PASS ING3 54556 broad.mit.edu 37 7 120606683 120606683 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr7:120606683C>A uc003vjn.2 + 6 502 c.368C>A c.(367-369)TCT>TAT p.S123Y ING3_uc003vjo.2_5'UTR|ING3_uc003vjp.2_Missense_Mutation_p.S123Y|ING3_uc011kns.1_Missense_Mutation_p.S108Y NM_019071 NP_061944 Q9NXR8 ING3_HUMAN inhibitor of growth family, member 3 isoform 1 123 histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex zinc ion binding ovary(1) 1 all_neural(327;0.117) CTTTTAGGATCTTTGGAATTA 0.428 39 285 --- --- --- --- PASS CADPS2 93664 broad.mit.edu 37 7 122033251 122033251 + Missense_Mutation SNP T A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr7:122033251T>A uc010lkp.2 - 21 3170 c.3007A>T c.(3007-3009)ACC>TCC p.T1003S CADPS2_uc011knx.1_Missense_Mutation_p.T378S|CADPS2_uc003vkg.3_Intron|CADPS2_uc010lkq.2_Intron NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 1003 Interaction with DRD2.|MHD1. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 AATACACACGTGGACTCATAT 0.458 11 59 --- --- --- --- PASS FAM40B 57464 broad.mit.edu 37 7 129095105 129095105 + Missense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr7:129095105G>A uc011koy.1 + 8 767 c.727G>A c.(727-729)GAG>AAG p.E243K FAM40B_uc003vow.2_Missense_Mutation_p.E243K|FAM40B_uc011koz.1_5'Flank NM_020704 NP_065755 Q9ULQ0 FA40B_HUMAN hypothetical protein LOC57464 isoform a 243 0 GCATAATGAGGAGCCTTTTGC 0.502 84 467 --- --- --- --- PASS FAM40B 57464 broad.mit.edu 37 7 129120722 129120722 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr7:129120722C>T uc011koy.1 + 19 2081 c.2041C>T c.(2041-2043)CGG>TGG p.R681W FAM40B_uc003vow.2_Missense_Mutation_p.R681W|FAM40B_uc011koz.1_Missense_Mutation_p.R173W NM_020704 NP_065755 Q9ULQ0 FA40B_HUMAN hypothetical protein LOC57464 isoform a 681 0 GAAACATTCCCGGACCATGGT 0.428 119 162 --- --- --- --- PASS OR2F2 135948 broad.mit.edu 37 7 143632546 143632546 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr7:143632546C>T uc011ktv.1 + 1 221 c.221C>T c.(220-222)GCC>GTC p.A74V NM_001004685 NP_001004685 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, 74 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 Melanoma(164;0.0903) GTCTCCTATGCCACAAGCGTA 0.512 94 656 --- --- --- --- PASS OR2F2 135948 broad.mit.edu 37 7 143632547 143632547 + Silent SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr7:143632547C>A uc011ktv.1 + 1 222 c.222C>A c.(220-222)GCC>GCA p.A74A NM_001004685 NP_001004685 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, 74 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 Melanoma(164;0.0903) TCTCCTATGCCACAAGCGTAG 0.512 94 662 --- --- --- --- PASS NOBOX 135935 broad.mit.edu 37 7 144098543 144098543 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr7:144098543G>C uc011kue.1 - 4 440 c.440C>G c.(439-441)TCT>TGT p.S147C NM_001080413 NP_001073882 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 147 cell differentiation|oogenesis nucleus sequence-specific DNA binding ovary(1) 1 Melanoma(164;0.14) GGCTTCTCCAGAGACTGCTGG 0.647 33 29 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149492724 149492724 + Missense_Mutation SNP C G G rs113524670 TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr7:149492724C>G uc010lpk.2 + 44 6504 c.6504C>G c.(6502-6504)GAC>GAG p.D2168E NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 2168 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) ACTATCGTGACCTCCTGCCTG 0.587 97 378 --- --- --- --- PASS DPP6 1804 broad.mit.edu 37 7 153584801 153584801 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr7:153584801G>C uc003wli.2 + 1 383 c.33G>C c.(31-33)AAG>AAC p.K11N NM_001039350 NP_001034439 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 3 Error:Variant_position_missing_in_P42658_after_alignment cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) AGACCGCTAAGATGCAGGGGA 0.587 7 44 --- --- --- --- PASS SGCZ 137868 broad.mit.edu 37 8 13948076 13948076 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr8:13948076C>A uc003wwq.2 - 8 1475 c.815G>T c.(814-816)AGC>ATC p.S272I SGCZ_uc010lss.2_Missense_Mutation_p.S225I NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN sarcoglycan zeta 259 Poly-Ser.|Extracellular (Potential). cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma ovary(2)|central_nervous_system(1) 3 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) ACTTGAGGAGCTGGGTGAAGA 0.428 41 182 --- --- --- --- PASS MTUS1 57509 broad.mit.edu 37 8 17611496 17611496 + Silent SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr8:17611496G>C uc003wxv.2 - 2 2295 c.1821C>G c.(1819-1821)GCC>GCG p.A607A MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Silent_p.A607A|MTUS1_uc010lsz.2_Silent_p.A607A NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN mitochondrial tumor suppressor 1 isoform 1 607 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle ovary(1)|skin(1) 2 Colorectal(111;0.0778) TCGATTTCACGGCAGATGTTG 0.433 88 458 --- --- --- --- PASS FGL1 2267 broad.mit.edu 37 8 17722242 17722242 + Silent SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr8:17722242C>T uc003wxx.2 - 9 1122 c.798G>A c.(796-798)CTG>CTA p.L266L FGL1_uc003wxy.2_Silent_p.L266L|FGL1_uc003wxz.2_Silent_p.L265L|FGL1_uc003wya.2_Silent_p.L266L|FGL1_uc003wyb.2_Silent_p.L266L|FGL1_uc003wyc.2_Silent_p.L266L|FGL1_uc003wyd.2_RNA|FGL1_uc003wye.2_Silent_p.L316L|FGL1_uc003wyf.2_Silent_p.L236L NM_201553 NP_963847 Q08830 FGL1_HUMAN fibrinogen-like 1 precursor 266 Fibrinogen C-terminal. signal transduction fibrinogen complex receptor binding 0 Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215) ATACACCATTCAGGTTTGCAG 0.413 10 39 --- --- --- --- PASS CSGALNACT1 55790 broad.mit.edu 37 8 19362722 19362722 + Missense_Mutation SNP A T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr8:19362722A>T uc011kyn.1 - 4 1688 c.624T>A c.(622-624)GAT>GAA p.D208E CSGALNACT1_uc011kyo.1_Missense_Mutation_p.D208E|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.D207E|CSGALNACT1_uc003wzh.2_RNA NM_001130518 NP_001123990 Q8TDX6 CGAT1_HUMAN chondroitin sulfate 208 Lumenal (Potential). anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity central_nervous_system(2)|ovary(1) 3 Colorectal(111;0.182) CTTCTATGAAATCAGAGGCCG 0.532 52 120 --- --- --- --- PASS TEX15 56154 broad.mit.edu 37 8 30706460 30706460 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr8:30706460C>A uc003xil.2 - 1 74 c.74G>T c.(73-75)AGT>ATT p.S25I TEX15_uc011lbc.1_Missense_Mutation_p.S412I NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 25 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) ATTAAGACCACTTAAAATATT 0.378 107 125 --- --- --- --- PASS FUT10 84750 broad.mit.edu 37 8 33318925 33318925 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr8:33318925C>A uc003xje.2 - 2 402 c.46G>T c.(46-48)GTC>TTC p.V16F FUT10_uc003xjd.2_Intron|FUT10_uc011lbi.1_Intron|FUT10_uc003xjf.2_5'UTR|FUT10_uc003xjg.2_5'UTR|FUT10_uc003xjh.2_Missense_Mutation_p.V16F|FUT10_uc003xji.1_Missense_Mutation_p.V16F NM_032664 NP_116053 Q6P4F1 FUT10_HUMAN fucosyltransferase 10 16 Helical; Signal-anchor for type II membrane protein; (Potential). embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) GTGGCTGTGACGCACAGGCAA 0.552 45 59 --- --- --- --- PASS ASH2L 9070 broad.mit.edu 37 8 37972489 37972489 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr8:37972489G>T uc003xkt.3 + 7 806 c.748G>T c.(748-750)GAT>TAT p.D250Y ASH2L_uc011lbk.1_Missense_Mutation_p.D111Y|ASH2L_uc003xku.3_Missense_Mutation_p.D156Y|ASH2L_uc010lwa.2_Missense_Mutation_p.D156Y NM_004674 NP_004665 Q9UBL3 ASH2L_HUMAN ash2-like isoform a 250 hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding ovary(1)|lung(1) 2 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) TCCAGAAGAAGATTACCCCAA 0.338 13 74 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55538974 55538974 + Silent SNP T A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr8:55538974T>A uc003xsd.1 + 4 2680 c.2532T>A c.(2530-2532)TCT>TCA p.S844S RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 844 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AAGTGGCATCTGGGTATTTGA 0.333 45 65 --- --- --- --- PASS ARFGEF1 10565 broad.mit.edu 37 8 68169977 68169977 + Missense_Mutation SNP T C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr8:68169977T>C uc003xxo.1 - 17 2906 c.2516A>G c.(2515-2517)CAC>CGC p.H839R ARFGEF1_uc003xxl.1_Missense_Mutation_p.H293R NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 839 SEC7. exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) CTGTGGACTGTGAAGGTCTGT 0.313 44 195 --- --- --- --- PASS SLC26A7 115111 broad.mit.edu 37 8 92401612 92401612 + Silent SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr8:92401612G>T uc003yex.2 + 17 2000 c.1722G>T c.(1720-1722)CTG>CTT p.L574L SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Silent_p.L574L|SLC26A7_uc003yfa.2_Silent_p.L574L NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 574 STAS.|Cytoplasmic (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) ATTTAATCCTGGATTGCAGTG 0.398 107 260 --- --- --- --- PASS SLC26A7 115111 broad.mit.edu 37 8 92401613 92401613 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr8:92401613G>T uc003yex.2 + 17 2001 c.1723G>T c.(1723-1725)GAT>TAT p.D575Y SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.D575Y|SLC26A7_uc003yfa.2_Missense_Mutation_p.D575Y NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 575 STAS.|Cytoplasmic (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) TTTAATCCTGGATTGCAGTGG 0.398 108 257 --- --- --- --- PASS STK3 6788 broad.mit.edu 37 8 99539019 99539019 + Missense_Mutation SNP T C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr8:99539019T>C uc003yip.2 - 10 1409 c.1268A>G c.(1267-1269)AAC>AGC p.N423S STK3_uc003yio.2_Missense_Mutation_p.N451S NM_006281 NP_006272 Q13188 STK3_HUMAN serine/threonine kinase 3 423 apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis cytoplasm|nucleus ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity lung(3)|ovary(1) 4 Breast(36;2.4e-06) Breast(495;0.106) OV - Ovarian serous cystadenocarcinoma(57;0.0382) KIRC - Kidney renal clear cell carcinoma(542;9.44e-06) AGGAAAAACGTTTTTGGACAT 0.338 79 92 --- --- --- --- PASS ZFPM2 23414 broad.mit.edu 37 8 106801085 106801085 + Silent SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr8:106801085G>T uc003ymd.2 + 6 695 c.672G>T c.(670-672)CTG>CTT p.L224L ZFPM2_uc011lhs.1_5'UTR NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 224 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CACGCCTGCTGGACTCAATTC 0.498 17 119 --- --- --- --- PASS ZFPM2 23414 broad.mit.edu 37 8 106813738 106813738 + Silent SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr8:106813738C>T uc003ymd.2 + 8 1451 c.1428C>T c.(1426-1428)AGC>AGT p.S476S ZFPM2_uc011lhs.1_Silent_p.S207S NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 476 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AGCCCTCTAGCCCAAGACTTG 0.443 53 241 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110424514 110424514 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr8:110424514G>C uc003yne.2 + 20 2210 c.2106G>C c.(2104-2106)CAG>CAC p.Q702H NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 702 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) ACAGAGGGCAGAAGACAGCTG 0.408 HNSCC(38;0.096) 22 104 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113326155 113326155 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr8:113326155C>G uc003ynu.2 - 49 7835 c.7676G>C c.(7675-7677)GGC>GCC p.G2559A CSMD3_uc003yns.2_Missense_Mutation_p.G1761A|CSMD3_uc003ynt.2_Missense_Mutation_p.G2519A|CSMD3_uc011lhx.1_Missense_Mutation_p.G2455A|CSMD3_uc003ynw.1_Missense_Mutation_p.G270A NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2559 CUB 14.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TATCCGGAAGCCTTTTTTGTT 0.308 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 62 123 --- --- --- --- PASS DEPDC6 64798 broad.mit.edu 37 8 120977528 120977528 + Missense_Mutation SNP A T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr8:120977528A>T uc003yow.3 + 4 669 c.482A>T c.(481-483)TAT>TTT p.Y161F DEPDC6_uc011lid.1_Missense_Mutation_p.Y60F NM_022783 NP_073620 Q8TB45 DPTOR_HUMAN DEP domain containing 6 161 DEP 2. intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis intracellular protein binding 0 Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GGGGTCAAGTATGAGCGCACC 0.522 75 99 --- --- --- --- PASS ZHX2 22882 broad.mit.edu 37 8 123964616 123964616 + Missense_Mutation SNP A T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr8:123964616A>T uc003ypk.1 + 3 1433 c.866A>T c.(865-867)CAG>CTG p.Q289L NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 289 Required for interaction with NFYA.|Required for homodimerization.|Required for repressor activity.|Homeobox 1. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) TACCCGACCCAGGCTGAGTTG 0.517 109 132 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139825240 139825240 + Missense_Mutation SNP A G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr8:139825240A>G uc003yvd.2 - 8 1715 c.1268T>C c.(1267-1269)ATC>ACC p.I423T NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 423 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GTCACAATAGATCACAATCCG 0.512 HNSCC(7;0.00092) 77 110 --- --- --- --- PASS SCRIB 23513 broad.mit.edu 37 8 144874791 144874791 + Nonsense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr8:144874791G>A uc003yzp.1 - 31 4199 c.4192C>T c.(4192-4194)CAG>TAG p.Q1398* SCRIB_uc003yzn.1_Nonsense_Mutation_p.Q131*|SCRIB_uc003yzo.1_Nonsense_Mutation_p.Q1398* NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 1398 Potential. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GCTCTCTTCTGCTGTAGTTTT 0.682 8 9 --- --- --- --- PASS KIFC2 90990 broad.mit.edu 37 8 145692682 145692682 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr8:145692682G>T uc003zcz.2 + 4 492 c.427G>T c.(427-429)GGG>TGG p.G143W CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank NM_145754 NP_665697 Q96AC6 KIFC2_HUMAN kinesin family member C2 143 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CCTGCTCCAGGGGACTCAGCC 0.617 OREG0019057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 61 111 --- --- --- --- PASS B4GALT1 2683 broad.mit.edu 37 9 33135352 33135352 + Silent SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr9:33135352C>G uc003zsg.2 - 2 672 c.483G>C c.(481-483)GTG>GTC p.V161V NM_001497 NP_001488 P15291 B4GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 161 Lumenal (Potential). oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity 0 LUSC - Lung squamous cell carcinoma(29;0.0084) GBM - Glioblastoma multiforme(74;0.121) N-Acetyl-D-glucosamine(DB00141) CGCCCATCTTCACATTTGGGT 0.577 19 101 --- --- --- --- PASS DNAI1 27019 broad.mit.edu 37 9 34493233 34493233 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr9:34493233G>C uc003zum.2 + 9 916 c.723G>C c.(721-723)CAG>CAC p.Q241H NM_012144 NP_036276 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 241 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity 0 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) TTGAGAAGCAGGAAAAGACCA 0.463 Kartagener_syndrome 36 170 --- --- --- --- PASS CNTFR 1271 broad.mit.edu 37 9 34556282 34556282 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr9:34556282G>C uc003zup.1 - 7 1020 c.739C>G c.(739-741)CGA>GGA p.R247G CNTFR_uc003zuq.1_Missense_Mutation_p.R247G NM_147164 NP_671693 P26992 CNTFR_HUMAN ciliary neurotrophic factor receptor 247 Fibronectin type-III 2. nervous system development anchored to membrane|extrinsic to membrane|plasma membrane ciliary neurotrophic factor receptor activity|receptor binding ovary(3)|central_nervous_system(1)|skin(1) 5 all_epithelial(49;0.0899) STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.00494) ATGAGGGGTCGGTAGCGCAGA 0.612 8 49 --- --- --- --- PASS RUSC2 9853 broad.mit.edu 37 9 35555352 35555352 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr9:35555352G>C uc003zww.2 + 3 2565 c.2310G>C c.(2308-2310)GAG>GAC p.E770D RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.E770D NM_014806 NP_055621 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 770 cytosol ovary(1) 1 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) CTGAGCCAGAGACCTCTCGGC 0.652 9 274 --- --- --- --- PASS SIT1 27240 broad.mit.edu 37 9 35650382 35650382 + Silent SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr9:35650382C>T uc003zxe.1 - 3 364 c.267G>A c.(265-267)CTG>CTA p.L89L SIT1_uc003zxf.1_RNA NM_014450 NP_055265 Q9Y3P8 SIT1_HUMAN SHP2-interacting transmembrane adaptor protein 89 Cytoplasmic (Potential). regulation of T cell activation|signal transduction integral to plasma membrane kinase binding|SH2 domain binding 0 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GGTTCCCATACAGCGGGACCT 0.587 23 137 --- --- --- --- PASS CNTNAP3 79937 broad.mit.edu 37 9 39177329 39177329 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr9:39177329C>A uc004abi.2 - 6 1152 c.913G>T c.(913-915)GAT>TAT p.D305Y CNTNAP3_uc004abj.2_Missense_Mutation_p.D305Y|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Missense_Mutation_p.D305Y|CNTNAP3_uc011lqs.1_Missense_Mutation_p.D305Y|CNTNAP3_uc004abl.1_Missense_Mutation_p.D217Y NM_033655 NP_387504 Q9BZ76 CNTP3_HUMAN cell recognition molecule CASPR3 precursor 305 Extracellular (Potential).|Laminin G-like 1. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) AAATTAAGATCCAAGTAACTG 0.368 64 73 --- --- --- --- PASS FLJ46321 389763 broad.mit.edu 37 9 84608637 84608637 + Silent SNP T C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr9:84608637T>C uc004amn.2 + 4 3299 c.3252T>C c.(3250-3252)GAT>GAC p.D1084D NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 1084 integral to membrane 0 CAACAGAGGATGGCAGACAGA 0.498 16 93 --- --- --- --- PASS ZCCHC6 79670 broad.mit.edu 37 9 88967621 88967621 + Missense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr9:88967621G>A uc004aoq.2 - 2 709 c.494C>T c.(493-495)ACG>ATG p.T165M ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.T165M|ZCCHC6_uc004aou.2_Missense_Mutation_p.T165M|ZCCHC6_uc004aov.2_Missense_Mutation_p.T165M|ZCCHC6_uc004aow.2_Missense_Mutation_p.T165M|ZCCHC6_uc010mqf.1_Missense_Mutation_p.T165M NM_024617 NP_078893 Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 165 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding ovary(2) 2 CATTTCTGACGTGGTTTCTAG 0.403 49 252 --- --- --- --- PASS TNC 3371 broad.mit.edu 37 9 117797579 117797579 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr9:117797579C>G uc004bjj.3 - 22 6053 c.5691G>C c.(5689-5691)GAG>GAC p.E1897D TNC_uc010mvf.2_Missense_Mutation_p.E1624D NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 1897 Fibronectin type-III 15. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding p.E1897K(1) central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 CCGACTGAACCTCAGTAGCAG 0.433 40 170 --- --- --- --- PASS TNC 3371 broad.mit.edu 37 9 117848712 117848712 + Missense_Mutation SNP T C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr9:117848712T>C uc004bjj.3 - 3 1660 c.1298A>G c.(1297-1299)GAC>GGC p.D433G TNC_uc010mvf.2_Missense_Mutation_p.D433G NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 433 EGF-like 9. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 CTGGCTGCAGTCCTCCCCAGT 0.587 11 187 --- --- --- --- PASS NUP188 23511 broad.mit.edu 37 9 131765730 131765730 + Silent SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr9:131765730C>A uc004bws.1 + 38 4453 c.4431C>A c.(4429-4431)ATC>ATA p.I1477I NUP188_uc004bwu.2_Silent_p.I820I NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1477 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 TGCGTGATATCCAGGTGGGGG 0.567 119 75 --- --- --- --- PASS BAT2L1 84726 broad.mit.edu 37 9 134351441 134351441 + Missense_Mutation SNP A C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr9:134351441A>C uc004can.3 + 15 3980 c.3925A>C c.(3925-3927)AAG>CAG p.K1309Q BAT2L1_uc010mzj.1_Missense_Mutation_p.K892Q|BAT2L1_uc004cao.3_Missense_Mutation_p.K667Q NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 1309 protein binding 0 ACGCCAAGATAAGCCCCCTCG 0.642 OREG0019561 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 110 --- --- --- --- PASS GTF3C4 9329 broad.mit.edu 37 9 135553825 135553825 + Silent SNP T C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr9:135553825T>C uc010mzv.2 + 2 1077 c.819T>C c.(817-819)AGT>AGC p.S273S GTF3C4_uc010mzw.2_RNA NM_012204 NP_036336 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC 4 273 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) ACGTTGGCAGTGTGCTCCTGG 0.517 191 71 --- --- --- --- PASS UBAC1 10422 broad.mit.edu 37 9 138831596 138831596 + Missense_Mutation SNP A C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr9:138831596A>C uc004cgt.2 - 8 1104 c.886T>G c.(886-888)TCC>GCC p.S296A UBAC1_uc004cgs.1_Missense_Mutation_p.S296A|UBAC1_uc004cgu.2_RNA NM_016172 NP_057256 Q9BSL1 UBAC1_HUMAN ubiquitin associated domain containing 1 296 UBA 2. Golgi apparatus|plasma membrane protein binding skin(2) 2 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06) TCCATCAGGGAAATGACGGCC 0.597 12 178 --- --- --- --- PASS SNAPC4 6621 broad.mit.edu 37 9 139270830 139270830 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr9:139270830C>T uc004chh.2 - 22 4397 c.4388G>A c.(4387-4389)CGG>CAG p.R1463Q CARD9_uc004chg.3_5'Flank|CARD9_uc011mdw.1_5'Flank|CARD9_uc011mdx.1_5'Flank|CARD9_uc010nbj.2_5'Flank NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, 1463 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CCTCCGCTTCCGGGTGTGCCT 0.632 97 126 --- --- --- --- PASS ITGB1 3688 broad.mit.edu 37 10 33208813 33208813 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr10:33208813C>T uc001iws.3 - 11 1605 c.1469G>A c.(1468-1470)AGG>AAG p.R490K ITGB1_uc001iwp.3_Missense_Mutation_p.R490K|ITGB1_uc001iwq.3_Missense_Mutation_p.R490K|ITGB1_uc001iwr.3_Missense_Mutation_p.R490K|ITGB1_uc001iwt.3_Missense_Mutation_p.R490K|ITGB1_uc001iwu.1_Missense_Mutation_p.R490K NM_133376 NP_596867 P05556 ITB1_HUMAN integrin beta 1 isoform 1A precursor 490 Extracellular (Potential).|I.|Cysteine-rich tandem repeats. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(717;1.34e-05)|Breast(68;0.0634) CCCAGCTTACCTGCACGCGCC 0.453 8 189 --- --- --- --- PASS A1CF 29974 broad.mit.edu 37 10 52587900 52587900 + Missense_Mutation SNP T A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr10:52587900T>A uc001jjj.2 - 7 948 c.760A>T c.(760-762)ATC>TTC p.I254F A1CF_uc010qhn.1_Missense_Mutation_p.I262F|A1CF_uc001jji.2_Missense_Mutation_p.I254F|A1CF_uc001jjh.2_Missense_Mutation_p.I262F|A1CF_uc010qho.1_Missense_Mutation_p.I262F|A1CF_uc009xov.2_Missense_Mutation_p.I254F NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN apobec-1 complementation factor isoform 2 254 RRM 3. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding central_nervous_system(1) 1 CCTGGTTTGATATTGTTGAAT 0.209 8 85 --- --- --- --- PASS TMEM26 219623 broad.mit.edu 37 10 63191022 63191022 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr10:63191022C>G uc001jlo.2 - 3 708 c.339G>C c.(337-339)TTG>TTC p.L113F TMEM26_uc010qij.1_RNA|TMEM26_uc001jlq.2_RNA NM_178505 NP_848600 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 113 integral to membrane 0 Prostate(12;0.0112) CATTGGATGTCAATGTTTGAT 0.408 19 101 --- --- --- --- PASS ARID5B 84159 broad.mit.edu 37 10 63816878 63816878 + Silent SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr10:63816878G>A uc001jlt.1 + 6 875 c.849G>A c.(847-849)GTG>GTA p.V283V ARID5B_uc001jlu.1_Silent_p.V40V NM_032199 NP_115575 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 283 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 Prostate(12;0.016)|all_hematologic(501;0.215) TTTTCCAGGTGAAATGTGAGG 0.448 27 32 --- --- --- --- PASS MYPN 84665 broad.mit.edu 37 10 69925552 69925552 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr10:69925552G>T uc001jnm.3 + 10 1762 c.1577G>T c.(1576-1578)AGC>ATC p.S526I MYPN_uc001jnl.1_Missense_Mutation_p.S526I|MYPN_uc001jnn.3_Missense_Mutation_p.S251I|MYPN_uc001jno.3_Missense_Mutation_p.S526I|MYPN_uc009xps.2_Missense_Mutation_p.S526I|MYPN_uc009xpt.2_Missense_Mutation_p.S526I|MYPN_uc010qit.1_Missense_Mutation_p.S232I|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 526 Ig-like 2. nucleus|sarcomere actin binding ovary(3)|skin(2) 5 ACAGTGTCAAGCATTGCACAG 0.433 85 50 --- --- --- --- PASS CHST3 9469 broad.mit.edu 37 10 73765698 73765698 + Missense_Mutation SNP T C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr10:73765698T>C uc001jsn.2 + 2 538 c.98T>C c.(97-99)ATA>ACA p.I33T NM_004273 NP_004264 Q7LGC8 CHST3_HUMAN chondroitin 6-sulfotransferase 3 33 Helical; Signal-anchor for type II membrane protein; (Potential). chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 6-sulfotransferase activity 0 TTTGTGGTGATAGTTTTTGTC 0.473 76 76 --- --- --- --- PASS CHST3 9469 broad.mit.edu 37 10 73765715 73765715 + Nonsense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr10:73765715G>T uc001jsn.2 + 2 555 c.115G>T c.(115-117)GAA>TAA p.E39* NM_004273 NP_004264 Q7LGC8 CHST3_HUMAN chondroitin 6-sulfotransferase 3 39 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 6-sulfotransferase activity 0 TGTCTTCATCGAAAAGGAAAA 0.483 75 71 --- --- --- --- PASS GBF1 8729 broad.mit.edu 37 10 104140418 104140418 + Silent SNP A G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr10:104140418A>G uc001kux.1 + 38 5385 c.5145A>G c.(5143-5145)GAA>GAG p.E1715E GBF1_uc001kuy.1_Silent_p.E1711E|GBF1_uc001kuz.1_Silent_p.E1712E NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 1715 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) TACGAGATGAACTCTTCAAGC 0.468 156 425 --- --- --- --- PASS CCDC147 159686 broad.mit.edu 37 10 106163575 106163575 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr10:106163575G>C uc001kyh.2 + 14 2262 c.2128G>C c.(2128-2130)GTG>CTG p.V710L NM_001008723 NP_001008723 Q5T655 CC147_HUMAN coiled-coil domain containing 147 710 Potential. ovary(2)|central_nervous_system(2)|skin(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) TCCCCTGAATGTGCACAGATG 0.512 11 26 --- --- --- --- PASS CASP7 840 broad.mit.edu 37 10 115486075 115486075 + Silent SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr10:115486075G>C uc001lan.2 + 6 738 c.564G>C c.(562-564)GGG>GGC p.G188G CASP7_uc001lam.2_Missense_Mutation_p.G177A|CASP7_uc001lao.2_Silent_p.G221G|CASP7_uc001lap.2_Silent_p.G188G|CASP7_uc001laq.2_Silent_p.G188G|CASP7_uc010qsa.1_Silent_p.G273G|CASP7_uc010qsb.1_Silent_p.G163G NM_033339 NP_203125 P55210 CASP7_HUMAN caspase 7 isoform alpha 188 activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm cysteine-type endopeptidase activity|protein binding ovary(1) 1 Colorectal(252;0.0946)|Breast(234;0.188) Epithelial(162;0.012)|all cancers(201;0.014) CTTGCCGAGGGACCGAGCTTG 0.368 27 109 --- --- --- --- PASS BTBD16 118663 broad.mit.edu 37 10 124096123 124096123 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr10:124096123G>C uc001lgc.1 + 15 1629 c.1378G>C c.(1378-1380)GGC>CGC p.G460R BTBD16_uc001lgd.1_Missense_Mutation_p.G459R NM_144587 NP_653188 Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 460 skin(1) 1 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) CCTGGTTGACGGCAAGTGGCA 0.542 9 43 --- --- --- --- PASS HRAS 3265 broad.mit.edu 37 11 534285 534285 + Missense_Mutation SNP C A A rs104894226 TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr11:534285C>A uc001lpv.2 - 2 226 c.38G>T c.(37-39)GGT>GTT p.G13V HRAS_uc010qvw.1_Missense_Mutation_p.G13V|HRAS_uc010qvx.1_Missense_Mutation_p.G13V|HRAS_uc010qvy.1_RNA NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 13 GTP. G -> D (in FCSS).|G -> C (in FCSS). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G13R(33)|p.G13V(10)|p.G13D(9)|p.G13S(9)|p.G13C(6)|p.G13G(1)|p.G12_G13insAG(1) urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1) 749 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) CTTGCCCACACCGCCGGCGCC 0.642 6 Mis infrequent sarcomas|rare other types rhadomyosarcoma|ganglioneuroblastoma|bladder Costello_syndrome HNSCC(11;0.0054) 15 37 --- --- --- --- PASS KRTAP5-6 440023 broad.mit.edu 37 11 1718688 1718688 + Silent SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr11:1718688C>A uc001lua.2 + 1 264 c.213C>A c.(211-213)GGC>GGA p.G71G NM_001012416 NP_001012416 Q6L8G9 KRA56_HUMAN keratin associated protein 5-6 71 6 X 4 AA repeats of C-C-X-P. keratin filament 0 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GGGGCTGTGGCTCTTGTGGGG 0.632 51 92 --- --- --- --- PASS OR52J3 119679 broad.mit.edu 37 11 5068595 5068595 + Silent SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr11:5068595C>A uc010qyv.1 + 1 840 c.840C>A c.(838-840)CTC>CTA p.L280L NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, 280 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|lung(1)|skin(1) 3 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) TTGCCAATCTCTATTTGATTA 0.393 52 166 --- --- --- --- PASS OR52A5 390054 broad.mit.edu 37 11 5153381 5153381 + Silent SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr11:5153381G>T uc010qyx.1 - 1 492 c.492C>A c.(490-492)CTC>CTA p.L164L NM_001005160 NP_001005160 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, 164 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|lung(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) AGCATTTGATGAGCCCTAAGG 0.463 34 103 --- --- --- --- PASS TRIM5 85363 broad.mit.edu 37 11 5686040 5686040 + Nonstop_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr11:5686040C>G uc001mbm.1 - 8 1738 c.1481G>C c.(1480-1482)TGA>TCA p.*494S TRIM78P_uc009yer.2_Intron|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Intron|TRIM5_uc001mbo.2_Intron NM_033034 NP_149023 Q9C035 TRIM5_HUMAN tripartite motif protein TRIM5 isoform alpha 494 interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) TAAGAAGGTTCAAGAGCTTGG 0.413 23 74 --- --- --- --- PASS TRIM3 10612 broad.mit.edu 37 11 6479499 6479499 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr11:6479499C>G uc001mdh.2 - 4 546 c.159G>C c.(157-159)CAG>CAC p.Q53H TRIM3_uc001mdi.2_Missense_Mutation_p.Q53H|TRIM3_uc010raj.1_5'UTR|TRIM3_uc009yfd.2_Missense_Mutation_p.Q53H|TRIM3_uc010rak.1_Missense_Mutation_p.Q53H|TRIM3_uc001mdj.2_5'UTR NM_006458 NP_006449 O75382 TRIM3_HUMAN tripartite motif-containing 3 53 RING-type. nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1) 5 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCGTCAGGCTCTGGGCAGGGA 0.547 30 71 --- --- --- --- PASS TPP1 1200 broad.mit.edu 37 11 6640070 6640070 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr11:6640070G>T uc001mel.1 - 3 227 c.166C>A c.(166-168)CAG>AAG p.Q56K TPP1_uc001mek.1_5'UTR|TPP1_uc010rar.1_Missense_Mutation_p.Q56K NM_000391 NP_000382 O14773 TPP1_HUMAN tripeptidyl-peptidase I preproprotein 56 bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis lysosome|melanosome|soluble fraction metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131) TCCACATTCTGCTGTCTCAGG 0.617 39 90 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 11 30928170 30928170 + RNA SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr11:30928170C>T uc001mss.1 - 8 c.1124G>A uc009yjk.1_Missense_Mutation_p.G789R|uc009yjj.1_RNA Homo sapiens mRNA for KIAA1493 protein, partial cds. AATGGAACCCCTGGAAGCAAT 0.453 15 42 --- --- --- --- PASS PRDM11 56981 broad.mit.edu 37 11 45246120 45246120 + Nonsense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr11:45246120G>A uc001myo.2 + 8 1446 c.1197G>A c.(1195-1197)TGG>TGA p.W399* NM_020229 NP_064614 Q9NQV5 PRD11_HUMAN PR domain containing 11 399 upper_aerodigestive_tract(1) 1 AGGGGGACTGGAAGGTCCCCC 0.577 71 123 --- --- --- --- PASS OR4A5 81318 broad.mit.edu 37 11 51411845 51411845 + Missense_Mutation SNP A C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr11:51411845A>C uc001nhi.1 - 1 551 c.551T>G c.(550-552)CTG>CGG p.L184R NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 184 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) AGTGCATGCCAGTTCCAGTAA 0.418 24 43 --- --- --- --- PASS OR5L2 26338 broad.mit.edu 37 11 55595463 55595463 + Missense_Mutation SNP T C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr11:55595463T>C uc001nhy.1 + 1 769 c.769T>C c.(769-771)TAC>CAC p.Y257H NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 257 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) AACAATCCTTTACATTTATTG 0.502 HNSCC(27;0.073) 36 123 --- --- --- --- PASS OR5L2 26338 broad.mit.edu 37 11 55595507 55595507 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr11:55595507C>A uc001nhy.1 + 1 813 c.813C>A c.(811-813)GAC>GAA p.D271E NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 271 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) GAGATGTTGACAAAGTGGCCA 0.488 HNSCC(27;0.073) 23 87 --- --- --- --- PASS OR5T1 390155 broad.mit.edu 37 11 56043883 56043883 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr11:56043883C>A uc001nio.1 + 1 769 c.769C>A c.(769-771)CTA>ATA p.L257I NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 257 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) TGGAGCTCACCTAACTGGAGT 0.423 68 310 --- --- --- --- PASS MS4A12 54860 broad.mit.edu 37 11 60271261 60271261 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr11:60271261G>C uc001npr.2 + 5 616 c.559G>C c.(559-561)GGG>CGG p.G187R NM_017716 NP_060186 Q9NXJ0 M4A12_HUMAN membrane-spanning 4-domains, subfamily A, member 187 Extracellular (Potential). integral to membrane receptor activity 0 GTGCATCAATGGGGTAGCTGG 0.473 25 72 --- --- --- --- PASS ALDH3B1 221 broad.mit.edu 37 11 67786655 67786655 + Silent SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr11:67786655G>A uc010rpy.1 + 6 527 c.411G>A c.(409-411)CTG>CTA p.L137L ALDH3B1_uc001omz.2_Silent_p.L137L|ALDH3B1_uc001ona.2_Silent_p.L100L|ALDH3B1_uc001onb.2_RNA NM_001161473 NP_001154945 P43353 AL3B1_HUMAN aldehyde dehydrogenase 3B1 isoform a 137 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase 0 NADH(DB00157) GTGTGGTGCTGAAGCCATCGG 0.527 8 12 --- --- --- --- PASS RELT 84957 broad.mit.edu 37 11 73105576 73105576 + Silent SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr11:73105576C>G uc001otv.2 + 9 1008 c.843C>G c.(841-843)CTC>CTG p.L281L RELT_uc001otw.2_Silent_p.L281L|RELT_uc001otx.2_RNA NM_152222 NP_689408 Q969Z4 TR19L_HUMAN RELT tumor necrosis factor receptor precursor 281 Cytoplasmic (Potential). cytoplasm|integral to membrane|plasma membrane binding|receptor activity upper_aerodigestive_tract(1) 1 GCCACCATCTCCACACCGTGC 0.701 78 51 --- --- --- --- PASS PRKRIR 5612 broad.mit.edu 37 11 76076958 76076958 + Nonsense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr11:76076958G>A uc001oxh.1 - 2 148 c.148C>T c.(148-150)CAG>TAG p.Q50* NM_004705 NP_004696 O43422 P52K_HUMAN protein-kinase, interferon-inducible double 50 THAP-type. negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity ovary(2)|pancreas(1) 3 TTATTTAGCTGATCAGGTGTT 0.368 30 107 --- --- --- --- PASS CNTN5 53942 broad.mit.edu 37 11 100126572 100126572 + Missense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr11:100126572G>A uc001pga.2 + 17 2425 c.2086G>A c.(2086-2088)GAC>AAC p.D696N CNTN5_uc001pfz.2_Missense_Mutation_p.D696N|CNTN5_uc001pgb.2_Missense_Mutation_p.D622N|CNTN5_uc010ruk.1_5'UTR NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 696 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CCCAGCAGCTGACAACCACAG 0.522 59 51 --- --- --- --- PASS ANGPTL5 253935 broad.mit.edu 37 11 101771167 101771167 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr11:101771167G>T uc001pgl.2 - 7 1251 c.655C>A c.(655-657)CTT>ATT p.L219I NM_178127 NP_835228 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 precursor 219 Fibrinogen C-terminal. signal transduction extracellular space receptor binding ovary(1) 1 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) TAACCTAGAAGATCTCCAAAT 0.348 29 30 --- --- --- --- PASS BCL9L 283149 broad.mit.edu 37 11 118769687 118769687 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr11:118769687C>A uc001pug.2 - 8 4902 c.3937G>T c.(3937-3939)GTG>TTG p.V1313L BCL9L_uc009zal.2_Missense_Mutation_p.V1308L NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 1313 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity ovary(1)|pancreas(1) 2 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GGCCGGATCACCTCGCTCAGC 0.642 25 59 --- --- --- --- PASS ABCG4 64137 broad.mit.edu 37 11 119020852 119020852 + Silent SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr11:119020852G>A uc001pvs.2 + 2 513 c.177G>A c.(175-177)GTG>GTA p.V59V ABCG4_uc009zar.2_Silent_p.V59V NM_022169 NP_071452 Q9H172 ABCG4_HUMAN ATP-binding cassette, subfamily G, member 4 59 Cytoplasmic (Potential). cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity ovary(2) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GCTCAGCCGTGGACATCGAGT 0.642 4 158 --- --- --- --- PASS WNK1 65125 broad.mit.edu 37 12 863246 863246 + Missense_Mutation SNP T A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr12:863246T>A uc001qio.3 + 1 1022 c.515T>A c.(514-516)GTG>GAG p.V172E WNK1_uc001qin.2_Missense_Mutation_p.V172E|WNK1_uc001qip.3_Missense_Mutation_p.V172E NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 172 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CCTAGCCTTGTGGGGAGCAAA 0.697 24 21 --- --- --- --- PASS KCNA1 3736 broad.mit.edu 37 12 5020854 5020854 + Missense_Mutation SNP A T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr12:5020854A>T uc001qnh.2 + 2 1415 c.310A>T c.(310-312)AGG>TGG p.R104W NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 104 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CCGCCTGCGGAGGCCGGTCAA 0.617 16 64 --- --- --- --- PASS CD163L1 283316 broad.mit.edu 37 12 7585977 7585977 + Missense_Mutation SNP G T T rs117072358 byFrequency TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr12:7585977G>T uc001qsy.2 - 3 464 c.438C>A c.(436-438)AAC>AAA p.N146K CD163L1_uc010sge.1_Missense_Mutation_p.N146K NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 146 SRCR 1.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 TACCATAACAGTTCACACCAA 0.428 66 152 --- --- --- --- PASS TAS2R42 353164 broad.mit.edu 37 12 11339133 11339133 + Silent SNP A G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr12:11339133A>G uc001qzr.1 - 1 411 c.411T>C c.(409-411)TCT>TCC p.S137S PRB4_uc001qzf.1_Intron NM_181429 NP_852094 Q7RTR8 T2R42_HUMAN taste receptor, type 2, member 42 137 Helical; Name=3; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.0455) GTAAGAACAAAGACAATATAA 0.328 11 48 --- --- --- --- PASS PLEKHA5 54477 broad.mit.edu 37 12 19496351 19496351 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr12:19496351G>C uc001reb.2 + 17 2422 c.2336G>C c.(2335-2337)AGA>ACA p.R779T PLEKHA5_uc010sie.1_Missense_Mutation_p.R882T|PLEKHA5_uc001rea.2_Missense_Mutation_p.R837T|PLEKHA5_uc009zin.2_Missense_Mutation_p.R537T|PLEKHA5_uc010sif.1_Missense_Mutation_p.R710T|PLEKHA5_uc010sig.1_Missense_Mutation_p.R698T|PLEKHA5_uc010sih.1_Missense_Mutation_p.R671T|PLEKHA5_uc001rec.1_Missense_Mutation_p.R525T|PLEKHA5_uc009zio.2_Missense_Mutation_p.R101T NM_019012 NP_061885 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A 779 1-phosphatidylinositol binding|protein binding ovary(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) AAGCAGCAAAGAGGTACTACA 0.318 11 60 --- --- --- --- PASS LST-3TM12 338821 broad.mit.edu 37 12 21196375 21196375 + Missense_Mutation SNP T A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr12:21196375T>A uc010sin.1 + 6 694 c.694T>A c.(694-696)TTG>ATG p.L232M SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.L279M NM_001009562 NP_001009562 Q71QF0 Q71QF0_HUMAN liver-specific organic anion transporter 3TM12 232 membrane transporter activity 0 ATTCTTTTTCTTGCCTCTAAA 0.358 55 156 --- --- --- --- PASS SLCO1B1 10599 broad.mit.edu 37 12 21331541 21331541 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr12:21331541G>C uc001req.3 + 6 617 c.513G>C c.(511-513)TGG>TGC p.W171C NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 171 Helical; Name=4; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) CATACATGTGGATATATGTGT 0.338 20 213 --- --- --- --- PASS GYS2 2998 broad.mit.edu 37 12 21733447 21733447 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr12:21733447G>C uc001rfb.2 - 2 387 c.132C>G c.(130-132)ATC>ATG p.I44M NM_021957 NP_068776 P54840 GYS2_HUMAN glycogen synthase 2 44 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity lung(1)|skin(1) 2 TCACAGTATAGATGCCTCCAA 0.333 5 324 --- --- --- --- PASS ABCC9 10060 broad.mit.edu 37 12 22070004 22070004 + Missense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr12:22070004G>A uc001rfi.1 - 4 460 c.440C>T c.(439-441)ACA>ATA p.T147I ABCC9_uc001rfh.2_Missense_Mutation_p.T147I|ABCC9_uc001rfj.1_Missense_Mutation_p.T147I NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 147 Helical; Name=4; (Potential). defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TATTGTTTTTGTAATAAAGGC 0.373 152 185 --- --- --- --- PASS CACNB3 784 broad.mit.edu 37 12 49221640 49221640 + Silent SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr12:49221640G>A uc001rsl.1 + 13 1614 c.1413G>A c.(1411-1413)CGG>CGA p.R471R CACNB3_uc010sly.1_Silent_p.R458R|CACNB3_uc010slz.1_Silent_p.R470R|CACNB3_uc001rsk.1_Silent_p.R318R NM_000725 NP_000716 P54284 CACB3_HUMAN calcium channel, voltage-dependent, beta 3 471 axon guidance|membrane depolarization|synaptic transmission cytosol|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity 0 Verapamil(DB00661) ACAGTGACCGGAACTGGCAGC 0.657 20 77 --- --- --- --- PASS TMPRSS12 283471 broad.mit.edu 37 12 51252702 51252702 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr12:51252702C>T uc001rwx.3 + 3 565 c.518C>T c.(517-519)GCA>GTA p.A173V TMPRSS12_uc001rwy.2_Missense_Mutation_p.A173V NM_182559 NP_872365 Q86WS5 TMPSC_HUMAN transmembrane protease, serine 12 precursor 173 Peptidase S1.|Extracellular (Potential). proteolysis integral to membrane serine-type endopeptidase activity 0 AATGATATTGCACTTTTTCAC 0.313 8 17 --- --- --- --- PASS KRT82 3888 broad.mit.edu 37 12 52794402 52794402 + Missense_Mutation SNP A G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr12:52794402A>G uc001sai.1 - 4 801 c.686T>C c.(685-687)GTG>GCG p.V229A NM_033033 NP_149022 Q9NSB4 KRT82_HUMAN keratin 82 229 Coil 1B.|Rod. keratin filament protein binding|structural constituent of epidermis ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.193) GGCTGTGTCCACGTCCTGCAG 0.602 47 56 --- --- --- --- PASS TENC1 23371 broad.mit.edu 37 12 53448142 53448142 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr12:53448142G>C uc001sbp.2 + 7 574 c.439G>C c.(439-441)GCG>CCG p.A147P uc001sbk.1_RNA|TENC1_uc001sbl.2_Missense_Mutation_p.A23P|TENC1_uc001sbm.2_Missense_Mutation_p.A157P|TENC1_uc001sbn.2_Missense_Mutation_p.A157P|TENC1_uc001sbo.1_Missense_Mutation_p.A147P NM_170754 NP_736610 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase 147 Phosphatase tensin-type. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding ovary(1)|pancreas(1) 2 CGCCTTCCCCGCGCGGCCCGA 0.692 31 47 --- --- --- --- PASS GPR182 11318 broad.mit.edu 37 12 57390016 57390016 + Silent SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr12:57390016G>A uc001smk.2 + 2 1117 c.1023G>A c.(1021-1023)AAG>AAA p.K341K RDH16_uc010sqx.1_Intron NM_007264 NP_009195 O15218 GP182_HUMAN G protein-coupled receptor 182 341 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity lung(1) 1 ACCTTCCTAAGGACCAGACCA 0.567 59 239 --- --- --- --- PASS SRGAP1 57522 broad.mit.edu 37 12 64521760 64521760 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr12:64521760C>G uc010ssp.1 + 21 2716 c.2660C>G c.(2659-2661)CCA>CGA p.P887R SRGAP1_uc001srv.2_Missense_Mutation_p.P824R NM_020762 NP_065813 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 887 axon guidance cytosol ovary(2)|central_nervous_system(2) 4 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) CTAGGGTCCCCAAGCCTTGCC 0.642 72 94 --- --- --- --- PASS TMCC3 57458 broad.mit.edu 37 12 94975638 94975638 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr12:94975638C>A uc001tdj.2 - 2 873 c.755G>T c.(754-756)GGC>GTC p.G252V TMCC3_uc001tdi.2_Missense_Mutation_p.G221V NM_020698 NP_065749 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 252 integral to membrane ovary(1)|skin(1) 2 ATCATCACTGCCATACTTGGG 0.562 35 129 --- --- --- --- PASS ANKS1B 56899 broad.mit.edu 37 12 100169348 100169348 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr12:100169348C>A uc001tge.1 - 7 1356 c.939G>T c.(937-939)GAG>GAT p.E313D ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.E279D NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 313 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) GGGAAGGAGACTCAACAGGAG 0.398 19 73 --- --- --- --- PASS ANO4 121601 broad.mit.edu 37 12 101295607 101295607 + Missense_Mutation SNP T A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr12:101295607T>A uc010svm.1 + 2 616 c.44T>A c.(43-45)GTC>GAC p.V15D ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.V15D|ANO4_uc001thx.2_Missense_Mutation_p.V15D NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 15 Extracellular (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 AAAACCAAAGTCTTCCACCCA 0.468 HNSCC(74;0.22) 31 123 --- --- --- --- PASS UTP20 27340 broad.mit.edu 37 12 101693755 101693755 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr12:101693755C>G uc001tia.1 + 14 1747 c.1591C>G c.(1591-1593)CTT>GTT p.L531V NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 531 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 GGACAGACCTCTTGAGAAAGA 0.428 204 298 --- --- --- --- PASS SPIC 121599 broad.mit.edu 37 12 101870684 101870684 + Missense_Mutation SNP T A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr12:101870684T>A uc001tid.2 + 2 161 c.2T>A c.(1-3)ATG>AAG p.M1K SPIC_uc009zua.2_5'Flank|SPIC_uc010svp.1_5'Flank NM_152323 NP_689536 Q8N5J4 SPIC_HUMAN Spi-C transcription factor (Spi-1/PU.1 related) 1 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 TAATGAAATATGGTAAGCTGA 0.259 8 32 --- --- --- --- PASS MYO1H 283446 broad.mit.edu 37 12 109835579 109835579 + Silent SNP A C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr12:109835579A>C uc010sxn.1 + 4 484 c.484A>C c.(484-486)AGA>CGA p.R162R NM_001101421 NP_001094891 Q8N1T3 MYO1H_HUMAN myosin 1H Error:Variant_position_missing_in_B4DNW6_after_alignment myosin complex motor activity 0 CAACTCCAGCAGATTTGGGAA 0.343 9 42 --- --- --- --- PASS C12orf76 400073 broad.mit.edu 37 12 110480255 110480255 + Silent SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr12:110480255C>T uc001tqd.1 - 5 674 c.309G>A c.(307-309)GGG>GGA p.G103G C12orf76_uc001tqe.1_RNA|C12orf76_uc010sxx.1_RNA|C12orf76_uc001tqb.1_RNA|C12orf76_uc001tqc.1_Missense_Mutation_p.G48E NM_207435 NP_997318 Q8N812 CL076_HUMAN hypothetical protein LOC400073 103 large_intestine(1) 1 GAAAATGGTTCCCATCAACAC 0.383 22 69 --- --- --- --- PASS P2RX4 5025 broad.mit.edu 37 12 121670841 121670841 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr12:121670841G>C uc001tzr.2 + 11 1390 c.1086G>C c.(1084-1086)AAG>AAC p.K362N P2RX4_uc009zxc.2_Missense_Mutation_p.K335N|P2RX4_uc001tzs.2_Missense_Mutation_p.K378N|P2RX4_uc009zxb.2_RNA|P2RX4_uc010szt.1_Missense_Mutation_p.K261N NM_002560 NP_002551 Q99571 P2RX4_HUMAN purinergic receptor P2X4 362 Cytoplasmic (Potential). endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis cell junction|perinuclear region of cytoplasm cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ACTGCATGAAGAAAAGACTCT 0.502 189 253 --- --- --- --- PASS PIWIL1 9271 broad.mit.edu 37 12 130831075 130831075 + Silent SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr12:130831075G>A uc001uik.2 + 5 567 c.477G>A c.(475-477)AAG>AAA p.K159K PIWIL1_uc001uij.1_Silent_p.K159K NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 159 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) TAATTGGAAAGTGTCATGCTT 0.393 83 51 --- --- --- --- PASS MRP63 78988 broad.mit.edu 37 13 21751154 21751154 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr13:21751154G>C uc001unw.2 + 2 589 c.99G>C c.(97-99)CAG>CAC p.Q33H SKA3_uc001unt.2_5'Flank|SKA3_uc001unv.2_5'Flank|SKA3_uc001unu.2_5'Flank NM_024026 NP_076931 Q9BQC6 RT63_HUMAN mitochondrial ribosomal protein 63 33 0 all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147) all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932) GCGCCAAGCAGAACATGATCC 0.682 4 59 --- --- --- --- PASS SHISA2 387914 broad.mit.edu 37 13 26621140 26621140 + Silent SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr13:26621140G>T uc001uqm.1 - 2 484 c.399C>A c.(397-399)TCC>TCA p.S133S NM_001007538 NP_001007539 Q6UWI4 SHSA2_HUMAN shisa homolog 2 precursor 133 Cytoplasmic (Potential). multicellular organismal development endoplasmic reticulum membrane|integral to membrane ovary(1)|central_nervous_system(1) 2 CTGCCACCAGGGACCCCAAGA 0.552 28 29 --- --- --- --- PASS MRPS31 10240 broad.mit.edu 37 13 41341022 41341022 + Missense_Mutation SNP T G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr13:41341022T>G uc001uxm.3 - 2 375 c.300A>C c.(298-300)TTA>TTC p.L100F NM_005830 NP_005821 Q92665 RT31_HUMAN mitochondrial ribosomal protein S31 precursor 100 mitochondrion|ribosome protein domain specific binding 0 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706) TAATAATGCCTAACAAGTCTT 0.398 80 95 --- --- --- --- PASS MLNR 2862 broad.mit.edu 37 13 49796434 49796434 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr13:49796434C>T uc010tgj.1 + 2 1160 c.1160C>T c.(1159-1161)GCG>GTG p.A387V NM_001507 NP_001498 O43193 MTLR_HUMAN motilin receptor 387 Cytoplasmic (Potential). digestion integral to plasma membrane growth hormone-releasing hormone receptor activity 0 all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;6.1e-09) AGGGACACTGCGGGGGAAGTT 0.577 44 37 --- --- --- --- PASS MYCBP2 23077 broad.mit.edu 37 13 77724913 77724913 + Missense_Mutation SNP T C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr13:77724913T>C uc001vkf.2 - 48 7064 c.6973A>G c.(6973-6975)ATG>GTG p.M2325V MYCBP2_uc010aev.2_Missense_Mutation_p.M1729V NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 2325 Filamin. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TTCACTATCATTGGTTCATAT 0.358 134 94 --- --- --- --- PASS SLITRK5 26050 broad.mit.edu 37 13 88329946 88329946 + Missense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr13:88329946G>A uc001vln.2 + 2 2522 c.2303G>A c.(2302-2304)CGA>CAA p.R768Q SLITRK5_uc010tic.1_Missense_Mutation_p.R527Q NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 768 Cytoplasmic (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) TACCGCTCCCGAGAGGGCAAC 0.522 21 59 --- --- --- --- PASS RAP2A 5911 broad.mit.edu 37 13 98086847 98086847 + Silent SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr13:98086847C>T uc001vnd.2 + 1 373 c.123C>T c.(121-123)CGC>CGT p.R41R NM_021033 NP_066361 P10114 RAP2A_HUMAN RAP2A, member of RAS oncogene family precursor 41 actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade recycling endosome membrane GTP binding|GTPase activity|protein binding central_nervous_system(1) 1 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.166) ACTTCTACCGCAAGGAGATCG 0.622 24 93 --- --- --- --- PASS TEP1 7011 broad.mit.edu 37 14 20864868 20864868 + Missense_Mutation SNP A T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr14:20864868A>T uc001vxe.2 - 10 1611 c.1571T>A c.(1570-1572)ATG>AAG p.M524K TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.M416K NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 524 TROVE. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) AAGCATGGCCATGAAGGGAAG 0.423 10 25 --- --- --- --- PASS FLJ10357 55701 broad.mit.edu 37 14 21542484 21542484 + Missense_Mutation SNP A T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr14:21542484A>T uc001vzp.2 + 3 624 c.595A>T c.(595-597)AGT>TGT p.S199C FLJ10357_uc001vzn.1_Missense_Mutation_p.S199C|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Translation_Start_Site NM_018071 NP_060541 Q8TER5 ARH40_HUMAN hypothetical protein LOC55701 199 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08) GBM - Glioblastoma multiforme(265;0.0197) ACATCAGCCAAGTACACTGCC 0.622 14 35 --- --- --- --- PASS CHD8 57680 broad.mit.edu 37 14 21883988 21883988 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr14:21883988C>T uc001was.1 - 6 1052 c.958G>A c.(958-960)GAA>AAA p.E320K CHD8_uc001war.1_Missense_Mutation_p.E216K NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 599 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) ACCTCTTCTTCTTCTTCATCA 0.433 45 120 --- --- --- --- PASS MYH6 4624 broad.mit.edu 37 14 23868085 23868085 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr14:23868085G>C uc001wjv.2 - 15 1810 c.1743C>G c.(1741-1743)ATC>ATG p.I581M NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 581 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CGGCGTAGTGGATCAGGGAGA 0.547 29 92 --- --- --- --- PASS SRP54 6729 broad.mit.edu 37 14 35482666 35482666 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr14:35482666G>C uc001wso.2 + 9 1102 c.751G>C c.(751-753)GAT>CAT p.D251H SRP54_uc010tpp.1_Missense_Mutation_p.D202H|SRP54_uc010tpq.1_Missense_Mutation_p.D187H NM_003136 NP_003127 P61011 SRP54_HUMAN signal recognition particle 54kDa isoform 1 251 GTP (By similarity).|G-domain. GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding ovary(1) 1 Breast(36;0.0545)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243) GBM - Glioblastoma multiforme(112;0.0396) GACAAAACTTGATGGCCATGC 0.433 35 112 --- --- --- --- PASS MGAT2 4247 broad.mit.edu 37 14 50089211 50089211 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr14:50089211G>C uc001wwr.2 + 1 1723 c.1225G>C c.(1225-1227)GAA>CAA p.E409Q SDCCAG1_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank NM_002408 NP_002399 Q10469 MGAT2_HUMAN mannosyl (alpha-1,6-)-glycoprotein 409 Lumenal (Potential). oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|Golgi stack|integral to membrane|membrane fraction alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity 0 all_epithelial(31;0.0021)|Breast(41;0.0124) CATGTTTCCAGAAACTCTAAC 0.403 5 90 --- --- --- --- PASS NIN 51199 broad.mit.edu 37 14 51227052 51227052 + Missense_Mutation SNP T A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr14:51227052T>A uc001wym.2 - 17 2113 c.1922A>T c.(1921-1923)GAC>GTC p.D641V NIN_uc001wyi.2_Missense_Mutation_p.D641V|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.D641V|NIN_uc010tqp.1_Missense_Mutation_p.D647V|NIN_uc001wyo.2_Missense_Mutation_p.D641V NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 641 Potential. 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) CACGGTTTCGTCCAGCTGCTT 0.458 T PDGFRB MPD 33 90 --- --- --- --- PASS PIGH 5283 broad.mit.edu 37 14 68059354 68059354 + Nonsense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr14:68059354G>A uc001xjr.1 - 3 569 c.472C>T c.(472-474)CAG>TAG p.Q158* NM_004569 NP_004560 Q14442 PIGH_HUMAN phosphatidylinositol glycan anchor biosynthesis, 158 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|mitochondrion|nucleolus phosphatidylinositol N-acetylglucosaminyltransferase activity ovary(1) 1 all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933) ATGCTCACCTGGAAGACGGGT 0.383 30 66 --- --- --- --- PASS MLH3 27030 broad.mit.edu 37 14 75514890 75514890 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr14:75514890G>T uc001xrd.1 - 2 1685 c.1469C>A c.(1468-1470)TCT>TAT p.S490Y MLH3_uc001xre.1_Missense_Mutation_p.S490Y|MLH3_uc010tuy.1_RNA NM_001040108 NP_001035197 Q9UHC1 MLH3_HUMAN mutL homolog 3 isoform 1 490 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00688) TTCCAGGAAAGATTTTTTATG 0.378 MMR 109 94 --- --- --- --- PASS ISM2 145501 broad.mit.edu 37 14 77945036 77945036 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr14:77945036C>G uc001xtz.2 - 5 1070 c.996G>C c.(994-996)TGG>TGC p.W332C ISM2_uc001xua.2_Missense_Mutation_p.G217A|ISM2_uc001xty.2_Missense_Mutation_p.W244C|ISM2_uc010tvl.1_Missense_Mutation_p.W251C NM_199296 NP_954993 Q6H9L7 ISM2_HUMAN isthmin 2 homolog isoform 1 332 TSP type-1. extracellular region skin(1) 1 ACCAGGGACTCCACTCCTTCT 0.473 26 71 --- --- --- --- PASS RIN3 79890 broad.mit.edu 37 14 93118071 93118071 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr14:93118071C>T uc001yap.2 + 6 829 c.677C>T c.(676-678)TCG>TTG p.S226L RIN3_uc010auk.2_5'UTR|RIN3_uc001yaq.2_Missense_Mutation_p.S151L|RIN3_uc001yar.1_5'UTR|RIN3_uc001yas.1_5'UTR NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 226 endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding lung(2)|ovary(1) 3 all_cancers(154;0.0701) ATCGAGCTGTCGGTAGGAAAT 0.602 9 90 --- --- --- --- PASS BDKRB1 623 broad.mit.edu 37 14 96730239 96730239 + Missense_Mutation SNP A G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr14:96730239A>G uc001yfh.2 + 3 428 c.220A>G c.(220-222)ATC>GTC p.I74V BDKRB1_uc010avn.2_Missense_Mutation_p.I74V NM_000710 NP_000701 P46663 BKRB1_HUMAN bradykinin receptor B1 74 Helical; Name=2; (Potential). elevation of cytosolic calcium ion concentration endoplasmic reticulum|integral to plasma membrane bradykinin receptor activity ovary(3) 3 all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226) CGTGGCAGAAATCTACCTGGC 0.532 59 39 --- --- --- --- PASS OR4M2 390538 broad.mit.edu 37 15 22368615 22368615 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr15:22368615C>G uc010tzu.1 + 1 40 c.40C>G c.(40-42)CTC>GTC p.L14V LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) AGAATTTGTTCTCACTGGCCT 0.333 90 455 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34130624 34130624 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr15:34130624C>A uc001zhi.2 + 89 12513 c.12443C>A c.(12442-12444)TCT>TAT p.S4148Y RYR3_uc010bar.2_Missense_Mutation_p.S4143Y NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 4148 Helical; Name=M3; (Potential). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCCTGTGCCTCTGTGAAGAGG 0.498 59 80 --- --- --- --- PASS PLCB2 5330 broad.mit.edu 37 15 40590445 40590445 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr15:40590445C>G uc001zld.2 - 11 1435 c.1134G>C c.(1132-1134)ATG>ATC p.M378I PLCB2_uc010bbo.2_Missense_Mutation_p.M378I|PLCB2_uc010ucm.1_Missense_Mutation_p.M378I NM_004573 NP_004564 Q00722 PLCB2_HUMAN phospholipase C, beta 2 378 PI-PLC X-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3)|breast(3)|kidney(1)|pancreas(1) 8 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) TGTCTGTGGTCATGGTGAAGC 0.607 22 52 --- --- --- --- PASS C15orf52 388115 broad.mit.edu 37 15 40627441 40627441 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr15:40627441G>T uc001zlh.3 - 11 1539 c.1523C>A c.(1522-1524)ACG>AAG p.T508K C15orf52_uc010ucn.1_Missense_Mutation_p.T298K NM_207380 NP_997263 Q6ZUT6 CO052_HUMAN hypothetical protein LOC388115 508 large_intestine(1) 1 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) GCCTCCTCTCGTGGGCCGGCT 0.682 105 196 --- --- --- --- PASS IVD 3712 broad.mit.edu 37 15 40705252 40705252 + Silent SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr15:40705252C>A uc001zls.3 + 7 1093 c.759C>A c.(757-759)ACC>ACA p.T253T IVD_uc001zlq.2_Silent_p.T223T|IVD_uc001zlr.2_5'Flank NM_002225 NP_002216 P26440 IVD_HUMAN isovaleryl Coenzyme A dehydrogenase isoform 1 250 leucine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity ovary(1) 1 all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808) GCTCTAACACCTGTGAGCTAA 0.522 14 50 --- --- --- --- PASS VPS39 23339 broad.mit.edu 37 15 42481356 42481356 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr15:42481356C>T uc001zpd.2 - 6 482 c.331G>A c.(331-333)GTT>ATT p.V111I VPS39_uc001zpc.2_Missense_Mutation_p.V100I NM_015289 NP_056104 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 111 CNH. protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) GCCTTTGAAACCGTAGTGATT 0.368 16 80 --- --- --- --- PASS CILP 8483 broad.mit.edu 37 15 65490998 65490998 + Silent SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr15:65490998C>A uc002aon.2 - 9 1807 c.1626G>T c.(1624-1626)GTG>GTT p.V542V NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 542 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 GCAGCCTGTCCACAAATGTGA 0.512 31 49 --- --- --- --- PASS ZWILCH 55055 broad.mit.edu 37 15 66797698 66797698 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr15:66797698G>T uc002aqb.2 + 1 268 c.22G>T c.(22-24)GCA>TCA p.A8S RPL4_uc002apv.2_5'Flank|RPL4_uc010bhr.2_5'Flank|RPL4_uc002apw.2_5'Flank|RPL4_uc002apx.2_5'UTR|RPL4_uc010ujq.1_5'Flank|SNORD16_uc010bht.2_5'Flank|SNORD18A_uc002apz.1_5'Flank|ZWILCH_uc010bhu.1_5'UTR|ZWILCH_uc002aqa.2_5'UTR|ZWILCH_uc010bhv.2_5'UTR NM_017975 NP_060445 Q9H900 ZWILC_HUMAN Zwilch 8 cell division|mitotic cell cycle checkpoint|mitotic prometaphase condensed chromosome kinetochore|cytosol protein binding ovary(1) 1 GCTGAACTGCGCAGCAGAGGA 0.607 41 144 --- --- --- --- PASS GOLGA6B 55889 broad.mit.edu 37 15 72954811 72954811 + Missense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr15:72954811G>A uc010uks.1 + 11 1107 c.1066G>A c.(1066-1068)GAG>AAG p.E356K NM_018652 NP_061122 A6NDN3 GOG6B_HUMAN golgi autoantigen, golgin subfamily a, 6B 356 Potential. 0 GAGAGTGCGGGAGCAGGAGAG 0.567 87 430 --- --- --- --- PASS NEO1 4756 broad.mit.edu 37 15 73547047 73547047 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr15:73547047C>A uc002avm.3 + 13 2111 c.1969C>A c.(1969-1971)CCT>ACT p.P657T NEO1_uc010ukx.1_Missense_Mutation_p.P657T|NEO1_uc010uky.1_Missense_Mutation_p.P657T|NEO1_uc010ukz.1_Missense_Mutation_p.P81T|NEO1_uc002avn.3_Missense_Mutation_p.P322T NM_002499 NP_002490 Q92859 NEO1_HUMAN neogenin homolog 1 precursor 657 Extracellular (Potential).|Fibronectin type-III 3. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus pancreas(1) 1 CTGGCAGCCACCTGCTCCAGC 0.433 30 196 --- --- --- --- PASS FAM154B 283726 broad.mit.edu 37 15 82574517 82574517 + Missense_Mutation SNP A C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr15:82574517A>C uc002bgv.2 + 3 380 c.311A>C c.(310-312)TAC>TCC p.Y104S FAM154B_uc010unr.1_Missense_Mutation_p.Y89S|FAM154B_uc010uns.1_RNA NM_001008226 NP_001008227 Q658L1 F154B_HUMAN hypothetical protein LOC283726 104 skin(2) 2 GAACAAACTTACCACCCGCCT 0.363 8 318 --- --- --- --- PASS ABCA3 21 broad.mit.edu 37 16 2350063 2350063 + Nonsense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr16:2350063G>C uc002cpy.1 - 13 2266 c.1554C>G c.(1552-1554)TAC>TAG p.Y518* ABCA3_uc010bsk.1_Nonsense_Mutation_p.Y460*|ABCA3_uc010bsl.1_Nonsense_Mutation_p.Y518* NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 518 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) CGGCTTCAAAGTACTCGTTTC 0.617 106 91 --- --- --- --- PASS NLRC3 197358 broad.mit.edu 37 16 3593454 3593454 + Silent SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr16:3593454C>T uc010btn.2 - 18 3321 c.2910G>A c.(2908-2910)TTG>TTA p.L970L NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN NOD3 protein 970 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 TGTTCACAGCCAAGGCTTCCC 0.532 7 16 --- --- --- --- PASS TNFRSF17 608 broad.mit.edu 37 16 12061699 12061699 + Silent SNP A C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr16:12061699A>C uc002dbv.2 + 3 768 c.550A>C c.(550-552)AGG>CGG p.R184R TNFRSF17_uc010buy.2_3'UTR|TNFRSF17_uc010buz.2_Silent_p.R135R NM_001192 NP_001183 Q02223 TNR17_HUMAN tumor necrosis factor receptor superfamily, 184 Cytoplasmic (Potential). cell proliferation|multicellular organismal development endomembrane system|integral to membrane|plasma membrane 0 AATTTCTGCTAGGTAATTAAC 0.413 T IL2 intestinal T-cell lymphoma 13 64 --- --- --- --- PASS C16orf62 57020 broad.mit.edu 37 16 19567052 19567052 + Missense_Mutation SNP A G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr16:19567052A>G uc002dgn.1 + 1 13 c.1A>G c.(1-3)ATG>GTG p.M1V C16orf62_uc002dgo.1_Missense_Mutation_p.M1V|C16orf62_uc010vas.1_5'UTR|C16orf62_uc002dgm.1_Missense_Mutation_p.M1V NM_020314 NP_064710 Q7Z3J2 CP062_HUMAN hypothetical protein LOC57020 1 integral to membrane ovary(1) 1 GACTGGGAAGATGGCCGTCTT 0.617 12 41 --- --- --- --- PASS FAM192A 80011 broad.mit.edu 37 16 57188238 57188238 + Silent SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr16:57188238G>T uc010vhk.1 - 7 988 c.729C>A c.(727-729)TCC>TCA p.S243S FAM192A_uc002ekz.3_Silent_p.S242S|FAM192A_uc002ekv.3_Silent_p.S165S|FAM192A_uc002ekw.3_Silent_p.S242S|FAM192A_uc002ekx.3_Silent_p.S242S|FAM192A_uc002eky.3_Silent_p.S242S NM_024946 NP_079222 Q9GZU8 F192A_HUMAN NEFA-interacting nuclear protein NIP30 243 nucleus 0 TTCGGAAGATGGAGGAGACAA 0.592 7 36 --- --- --- --- PASS CDH11 1009 broad.mit.edu 37 16 65016169 65016169 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr16:65016169C>G uc002eoi.2 - 8 1469 c.1035G>C c.(1033-1035)TTG>TTC p.L345F CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.L345F|CDH11_uc010vin.1_Missense_Mutation_p.L219F|CDH11_uc002eok.1_RNA NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 345 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CCTCTACCTTCAAGCTATAGG 0.448 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 49 56 --- --- --- --- PASS SLC9A5 6553 broad.mit.edu 37 16 67298340 67298340 + Missense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr16:67298340G>A uc002esm.2 + 13 1991 c.1928G>A c.(1927-1929)CGG>CAG p.R643Q SLC9A5_uc010cee.2_Missense_Mutation_p.R348Q|SLC9A5_uc010vji.1_Missense_Mutation_p.R147Q NM_004594 NP_004585 Q14940 SL9A5_HUMAN solute carrier family 9 (sodium/hydrogen 643 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity ovary(1)|pancreas(1) 2 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) AACATGAAGCGGCGGCTGGAG 0.577 31 6 --- --- --- --- PASS THAP11 57215 broad.mit.edu 37 16 67877203 67877203 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr16:67877203C>G uc002euo.2 + 1 991 c.746C>G c.(745-747)TCG>TGG p.S249W CENPT_uc002eun.3_Intron NM_020457 NP_065190 Q96EK4 THA11_HUMAN THAP domain containing 11 249 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding 0 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) TACTCCTTGTCGTCAGGCACC 0.592 73 347 --- --- --- --- PASS VAC14 55697 broad.mit.edu 37 16 70834811 70834811 + Translation_Start_Site SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr16:70834811G>T uc002ezm.2 - 1 251 c.-7C>A c.(-9--5)AGCTG>AGATG VAC14_uc010cfw.2_Translation_Start_Site|VAC14_uc002ezn.2_Translation_Start_Site NM_018052 NP_060522 Q08AM6 VAC14_HUMAN Vac14 homolog interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity pancreas(1)|skin(1) 2 Ovarian(137;0.0699) CATGGTGGCAGCTGGGGGAAC 0.557 8 30 --- --- --- --- PASS HYDIN 54768 broad.mit.edu 37 16 70926361 70926361 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr16:70926361C>A uc002ezr.2 - 56 9445 c.9317G>T c.(9316-9318)GGT>GTT p.G3106V NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 3107 ovary(1)|skin(1) 2 Ovarian(137;0.0654) GGTCAGTGAACCCTTTTTGGG 0.428 83 126 --- --- --- --- PASS PSMD7 5713 broad.mit.edu 37 16 74339275 74339275 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr16:74339275G>C uc002fcq.2 + 7 751 c.619G>C c.(619-621)GAT>CAT p.D207H PSMD7_uc010vmr.1_Missense_Mutation_p.D130H NM_002811 NP_002802 P51665 PSD7_HUMAN proteasome 26S non-ATPase subunit 7 207 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction proteasome regulatory particle protein binding 0 CAAGCTTCTGGATATCAGGAG 0.522 12 69 --- --- --- --- PASS ZC3H18 124245 broad.mit.edu 37 16 88689746 88689746 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr16:88689746G>T uc002fky.2 + 10 1987 c.1787G>T c.(1786-1788)CGG>CTG p.R596L ZC3H18_uc010voz.1_Missense_Mutation_p.R620L|ZC3H18_uc010chw.2_RNA NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 596 Ser-rich. nucleus nucleic acid binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0542) TCAGGAAGCCGGTCCAGGTAT 0.627 56 26 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7579314 7579314 + Missense_Mutation SNP T G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr17:7579314T>G uc002gim.2 - 4 567 c.373A>C c.(373-375)ACG>CCG p.T125P TP53_uc002gig.1_Missense_Mutation_p.T125P|TP53_uc002gih.2_Missense_Mutation_p.T125P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.T125P|TP53_uc010cni.1_Missense_Mutation_p.T125P|TP53_uc002gij.2_Missense_Mutation_p.T125P|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.T86P|TP53_uc010cnk.1_Missense_Mutation_p.T140P NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 125 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). T -> A (in a sporadic cancer; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> K (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.T125T(15)|p.0?(7)|p.T125M(7)|p.T125K(3)|p.G59fs*23(3)|p.T125R(3)|p.V73fs*9(1)|p.T125P(1)|p.G105_T125del21(1)|p.T125fs*45(1)|p.Y126fs*11(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.T125_Y126insX(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) CAACTGACCGTGCAAGTCACA 0.547 111 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) 45 42 --- --- --- --- PASS DNAH2 146754 broad.mit.edu 37 17 7662770 7662770 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr17:7662770C>T uc002giu.1 + 15 2493 c.2479C>T c.(2479-2481)CGG>TGG p.R827W NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 827 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) GTACATGATTCGGCTGGACCG 0.522 4 78 --- --- --- --- PASS MYH8 4626 broad.mit.edu 37 17 10304654 10304654 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr17:10304654C>G uc002gmm.2 - 24 3141 c.3046G>C c.(3046-3048)GAG>CAG p.E1016Q uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1016 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 TTGTCCTCCTCTGCCTGCAGG 0.453 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 8 316 --- --- --- --- PASS KSR1 8844 broad.mit.edu 37 17 25924359 25924359 + Silent SNP A T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr17:25924359A>T uc010crg.2 + 10 1399 c.954A>T c.(952-954)ACA>ACT p.T318T KSR1_uc002gzj.1_RNA|KSR1_uc002gzm.2_Silent_p.T119T NM_014238 NP_055053 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 453 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|central_nervous_system(1) 4 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) CCTCCTCCACACCCTCCTCAC 0.647 8 25 --- --- --- --- PASS SEZ6 124925 broad.mit.edu 37 17 27308587 27308587 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr17:27308587G>T uc002hdp.2 - 2 720 c.526C>A c.(526-528)CCC>ACC p.P176T SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.P176T|SEZ6_uc002hdq.1_Missense_Mutation_p.P51T|SEZ6_uc010crz.1_Missense_Mutation_p.P176T NM_178860 NP_849191 Q53EL9 SEZ6_HUMAN seizure related 6 homolog isoform 1 176 Pro-rich.|Extracellular (Potential). integral to membrane|plasma membrane large_intestine(1)|central_nervous_system(1) 2 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) CTGCTGGGGGGTGTAGTGCTG 0.637 17 28 --- --- --- --- PASS SLC6A4 6532 broad.mit.edu 37 17 28544291 28544291 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr17:28544291C>A uc002hey.3 - 6 1274 c.730G>T c.(730-732)GGG>TGG p.G244W NM_001045 NP_001036 P31645 SC6A4_HUMAN solute carrier family 6 member 4 244 Extracellular (Potential). response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity skin(3)|ovary(1) 4 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) TCCTGGAGCCCCTTAGACCGG 0.587 66 141 --- --- --- --- PASS SLC6A4 6532 broad.mit.edu 37 17 28548847 28548847 + Missense_Mutation SNP A G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr17:28548847A>G uc002hey.3 - 3 674 c.130T>C c.(130-132)TCC>CCC p.S44P NM_001045 NP_001036 P31645 SC6A4_HUMAN solute carrier family 6 member 4 44 Cytoplasmic (Potential). response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity skin(3)|ovary(1) 4 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) TACCCATTGGATATTTGCCCG 0.542 119 226 --- --- --- --- PASS RARA 5914 broad.mit.edu 37 17 38504711 38504711 + Missense_Mutation SNP T A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr17:38504711T>A uc002huk.1 + 3 777 c.322T>A c.(322-324)TGC>AGC p.C108S RARA_uc002hul.3_Missense_Mutation_p.C108S|RARA_uc010wfe.1_Intron|RARA_uc002hun.1_Missense_Mutation_p.C103S NM_000964 NP_000955 P10276 RARA_HUMAN retinoic acid receptor, alpha isoform 1 108 NR C4-type.|Nuclear receptor. apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus cytoplasm|nucleoplasm chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00143) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799) CTGTGAGGGCTGCAAGGTGAG 0.592 T PML|ZNF145|TIF1|NUMA1|NPM1 APL 29 90 --- --- --- --- PASS KRT14 3861 broad.mit.edu 37 17 39742654 39742654 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr17:39742654C>G uc002hxf.1 - 1 494 c.433G>C c.(433-435)GTG>CTG p.V145L JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Missense_Mutation_p.V145L NM_000526 NP_000517 P02533 K1C14_HUMAN keratin 14 145 Coil 1A.|Rod. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(1) 1 Breast(137;0.000307) CGGATCTTCACTTCCAGGTCG 0.577 111 207 --- --- --- --- PASS GPATCH8 23131 broad.mit.edu 37 17 42477794 42477794 + Missense_Mutation SNP A T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr17:42477794A>T uc002igw.1 - 8 1715 c.1651T>A c.(1651-1653)TGG>AGG p.W551R GPATCH8_uc002igv.1_Missense_Mutation_p.W473R|GPATCH8_uc010wiz.1_Missense_Mutation_p.W473R NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 551 intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) TCTGATGGCCACTGGAGGGCA 0.443 OREG0024461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 102 --- --- --- --- PASS GJC1 10052 broad.mit.edu 37 17 42883087 42883087 + Silent SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr17:42883087G>A uc002ihj.2 - 2 610 c.99C>T c.(97-99)ATC>ATT p.I33I GJC1_uc002ihk.2_Silent_p.I33I|GJC1_uc002ihl.2_Silent_p.I33I|GJC1_uc010czx.2_Silent_p.I33I|GJC1_uc010czy.1_5'Flank NM_005497 NP_005488 P36383 CXG1_HUMAN connexin 45 33 Helical; (Potential). cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport connexon complex|integral to membrane 0 Prostate(33;0.0959) CTGTAAGGACGATCCGGAAGA 0.478 25 97 --- --- --- --- PASS HIGD1B 51751 broad.mit.edu 37 17 42926621 42926621 + Splice_Site SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr17:42926621G>A uc002ihm.2 + 2 343 c.101_splice c.e2-1 p.G34_splice NM_016438 NP_057522 Q9P298 HIG1B_HUMAN HIG1 hypoxia inducible domain family, member 1B integral to membrane 0 Prostate(33;0.109) TCTGCCCACAGGCTTAGGAGG 0.567 18 105 --- --- --- --- PASS DYNLL2 140735 broad.mit.edu 37 17 56164509 56164509 + Missense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr17:56164509G>A uc010wnn.1 + 2 332 c.58G>A c.(58-60)GAT>AAT p.D20N NM_080677 NP_542408 Q96FJ2 DYL2_HUMAN dynein, light chain, LC8-type 2 20 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|microtubule-based process|transport centrosome|cytosol|dynein complex|microtubule|myosin complex|plasma membrane motor activity 0 CATGCAACAGGATGCCGTTGA 0.517 13 94 --- --- --- --- PASS MTMR4 9110 broad.mit.edu 37 17 56581810 56581810 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr17:56581810C>T uc002iwj.2 - 13 1449 c.1339G>A c.(1339-1341)GGG>AGG p.G447R NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 447 Myotubularin phosphatase. cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity skin(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) AACTTGTGCCCAAAATCCAGC 0.483 5 95 --- --- --- --- PASS PPM1E 22843 broad.mit.edu 37 17 57057444 57057444 + Silent SNP C A A rs151205066 TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr17:57057444C>A uc002iwx.2 + 7 1447 c.1320C>A c.(1318-1320)ACC>ACA p.T440T PPM1E_uc010ddd.2_Silent_p.T203T NM_014906 NP_055721 Q8WY54 PPM1E_HUMAN protein phosphatase 1E 449 PP2C-like. protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(3)|lung(1)|skin(1) 5 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) TCTATGACACCGTGAACCCTG 0.498 43 58 --- --- --- --- PASS TUBD1 51174 broad.mit.edu 37 17 57955528 57955528 + Silent SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr17:57955528C>T uc002ixw.1 - 5 983 c.705G>A c.(703-705)CTG>CTA p.L235L TUBD1_uc010ddf.1_Silent_p.L235L|TUBD1_uc010ddg.1_Silent_p.L200L|TUBD1_uc010ddh.1_Silent_p.L116L|TUBD1_uc010wok.1_Silent_p.L235L|TUBD1_uc002ixx.1_Silent_p.L235L|TUBD1_uc010wol.1_Silent_p.L19L|TUBD1_uc010ddi.1_Intron NM_016261 NP_057345 Q9UJT1 TBD_HUMAN delta-tubulin 235 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) ACACACTTCCCAGCTGATGTG 0.403 82 155 --- --- --- --- PASS HEATR6 63897 broad.mit.edu 37 17 58153505 58153505 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr17:58153505G>C uc002iyk.1 - 2 330 c.313C>G c.(313-315)CTT>GTT p.L105V HEATR6_uc010wos.1_5'Flank NM_022070 NP_071353 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 105 binding ovary(1)|skin(1) 2 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) AATCTGTTAAGTAAATGGTGG 0.383 4 107 --- --- --- --- PASS PRKAR1A 5573 broad.mit.edu 37 17 66519041 66519041 + Nonsense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr17:66519041G>T uc002jhg.2 + 3 502 c.322G>T c.(322-324)GAA>TAA p.E108* PRKAR1A_uc002jhh.2_Nonsense_Mutation_p.E108*|PRKAR1A_uc002jhi.2_Nonsense_Mutation_p.E108*|PRKAR1A_uc002jhj.2_Nonsense_Mutation_p.E108*|PRKAR1A_uc002jhk.2_5'UTR|PRKAR1A_uc002jhl.2_Nonsense_Mutation_p.E108*|PRKAR1A_uc002jhm.2_Nonsense_Mutation_p.E108* NM_212471 NP_997636 P10644 KAP0_HUMAN cAMP-dependent protein kinase, regulatory 108 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding adrenal_gland(4)|lung(3)|thyroid(2)|soft_tissue(2)|breast(1) 12 Breast(10;1.64e-13) CTACACGGAGGAAGATGCGGC 0.493 T|Mis|N|F|S RET papillary thyroid myxoma|endocrine|papillary thyroid Carney_Complex|Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial|Cardiac_Myxomas_Familial_Clustering_of 48 99 --- --- --- --- PASS AFMID 125061 broad.mit.edu 37 17 76200744 76200744 + Nonsense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr17:76200744G>T uc002jva.3 + 5 331 c.316G>T c.(316-318)GAG>TAG p.E106* AFMID_uc002jvb.3_Intron|AFMID_uc002juz.3_Nonsense_Mutation_p.E106* NM_001010982 NP_001010982 Q63HM1 AFMID_HUMAN arylformamidase isoform 1 106 cytosol|nucleus arylformamidase activity large_intestine(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134) CAGTAAGGATGAGTCTGCCTT 0.577 29 60 --- --- --- --- PASS FOXK2 3607 broad.mit.edu 37 17 80540717 80540717 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr17:80540717C>A uc002kfn.2 + 5 1181 c.1010C>A c.(1009-1011)GCC>GAC p.A337D FOXK2_uc002kfm.1_Missense_Mutation_p.A337D|FOXK2_uc010diu.2_Intron NM_004514 NP_004505 Q01167 FOXK2_HUMAN forkhead box K2 337 Fork-head. embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) ATAGACCCAGCCTCTGAAAGC 0.498 52 70 --- --- --- --- PASS PTPRM 5797 broad.mit.edu 37 18 8088778 8088778 + Silent SNP A T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr18:8088778A>T uc002knn.3 + 11 2288 c.1785A>T c.(1783-1785)ACA>ACT p.T595T PTPRM_uc010dkv.2_Silent_p.T595T|PTPRM_uc010wzl.1_Silent_p.T382T NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 595 Fibronectin type-III 4.|Extracellular (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) AACTTGAGACACCTTTGAATC 0.473 28 260 --- --- --- --- PASS SPIRE1 56907 broad.mit.edu 37 18 12479814 12479814 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr18:12479814C>T uc002kre.2 - 10 1335 c.1288G>A c.(1288-1290)GGT>AGT p.G430S SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Missense_Mutation_p.G296S|SPIRE1_uc010wzx.1_Missense_Mutation_p.G219S|SPIRE1_uc010wzy.1_Missense_Mutation_p.G416S NM_001128626 NP_001122098 Q08AE8 SPIR1_HUMAN spire homolog 1 isoform a 430 cytoskeleton|perinuclear region of cytoplasm actin binding 0 GATGTCAAACCTCCATTCACC 0.463 35 221 --- --- --- --- PASS SS18 6760 broad.mit.edu 37 18 23619384 23619384 + Missense_Mutation SNP T A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr18:23619384T>A uc002kvm.2 - 6 722 c.644A>T c.(643-645)TAC>TTC p.Y215F SS18_uc002kvn.2_Missense_Mutation_p.Y215F|SS18_uc010xbf.1_Missense_Mutation_p.Y133F|SS18_uc010xbg.1_Missense_Mutation_p.Y163F|SS18_uc010xbh.1_Missense_Mutation_p.Y163F|SS18_uc010xbi.1_Missense_Mutation_p.Y192F|SS18_uc010dlz.1_Missense_Mutation_p.Y163F NM_001007559 NP_001007560 Q15532 SSXT_HUMAN synovial sarcoma translocation, chromosome 18 215 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12) soft_tissue(1883)|ovary(1) 1884 all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124) TGGCATATTGTATTGCTGAGA 0.418 T SSX1| SSX2 synovial sarcoma 46 266 --- --- --- --- PASS FHOD3 80206 broad.mit.edu 37 18 34310661 34310661 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr18:34310661G>C uc002kzt.1 + 16 2991 c.2894G>C c.(2893-2895)AGG>ACG p.R965T FHOD3_uc002kzs.1_Missense_Mutation_p.R982T|FHOD3_uc010dmz.1_Missense_Mutation_p.R697T|FHOD3_uc010dnb.1_5'UTR NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 965 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) GATTCCAAGAGGAGTAACGCC 0.413 82 96 --- --- --- --- PASS SMAD7 4092 broad.mit.edu 37 18 46476230 46476230 + Nonsense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr18:46476230C>A uc002ldg.2 - 1 852 c.565G>T c.(565-567)GAG>TAG p.E189* SMAD7_uc010xde.1_5'Flank NM_005904 NP_005895 O15105 SMAD7_HUMAN SMAD family member 7 189 MH1. adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding 0 Colorectal(1;0.0518) CACACCAGCTCGGGGTTGATC 0.572 OREG0024975 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 18 --- --- --- --- PASS CBLN2 147381 broad.mit.edu 37 18 70205426 70205426 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr18:70205426C>A uc002lku.2 - 4 895 c.660G>T c.(658-660)TTG>TTT p.L220F CBLN2_uc002lkv.2_Missense_Mutation_p.L220F NM_182511 NP_872317 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 220 C1q. integral to membrane 0 Esophageal squamous(42;0.131) GAGGAAACACCAAGAAGCCCG 0.517 5 155 --- --- --- --- PASS ZNF77 58492 broad.mit.edu 37 19 2934610 2934610 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr19:2934610C>T uc002lws.3 - 4 646 c.515G>A c.(514-516)AGC>AAC p.S172N NM_021217 NP_067040 Q15935 ZNF77_HUMAN zinc finger protein 77 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) GGAGAGGCAGCTGCAGGCTTG 0.512 46 70 --- --- --- --- PASS TRIP10 9322 broad.mit.edu 37 19 6744953 6744953 + Missense_Mutation SNP G C C rs148404026 TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr19:6744953G>C uc002mfs.2 + 9 998 c.932G>C c.(931-933)CGA>CCA p.R311P TRIP10_uc010dux.1_Missense_Mutation_p.R311P|TRIP10_uc002mfr.2_Missense_Mutation_p.R311P|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Missense_Mutation_p.R130P NM_004240 NP_004231 Q15642 CIP4_HUMAN thyroid hormone receptor interactor 10 311 Interaction with CDC42.|Interaction with PDE6G (By similarity). actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup GTPase activator activity|identical protein binding|lipid binding ovary(1) 1 CCTGAACTCCGAGGCCCGGGT 0.662 33 38 --- --- --- --- PASS EMR1 2015 broad.mit.edu 37 19 6897258 6897258 + Missense_Mutation SNP T C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr19:6897258T>C uc002mfw.2 + 4 375 c.337T>C c.(337-339)TCT>CCT p.S113P EMR1_uc010dvc.2_Missense_Mutation_p.S113P|EMR1_uc010dvb.2_Intron|EMR1_uc010xji.1_Intron|EMR1_uc010xjj.1_Missense_Mutation_p.S113P NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 113 Extracellular (Potential).|EGF-like 2; calcium-binding (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) AGATGGTTTCTCTTCTCCCAC 0.502 63 76 --- --- --- --- PASS FCER2 2208 broad.mit.edu 37 19 7761738 7761738 + Missense_Mutation SNP G C C rs147413598 by1000genomes TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr19:7761738G>C uc002mhn.2 - 8 626 c.442C>G c.(442-444)CTA>GTA p.L148V FCER2_uc010xjs.1_Missense_Mutation_p.L70V|FCER2_uc010xjt.1_Missense_Mutation_p.L70V|FCER2_uc002mhm.2_Missense_Mutation_p.L148V|FCER2_uc010dvo.2_Missense_Mutation_p.L148V NM_002002 NP_001993 P06734 FCER2_HUMAN Fc fragment of IgE, low affinity II, receptor 148 Extracellular (Potential). positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity extracellular region|integral to plasma membrane IgE binding|integrin binding|receptor activity|sugar binding 0 TCCATCCTTAGCTTTGTCACC 0.567 5 9 --- --- --- --- PASS RAB11B 9230 broad.mit.edu 37 19 8467418 8467418 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr19:8467418C>A uc002mju.3 + 4 576 c.480C>A c.(478-480)AAC>AAA p.N160K RAB11B_uc010xkd.1_Missense_Mutation_p.N160K NM_004218 NP_004209 Q15907 RB11B_HUMAN RAB11B, member RAS oncogene family 160 cell cycle|protein transport|small GTPase mediated signal transduction plasma membrane GDP binding|GTP binding|GTPase activity 0 ATTCCACTAACGTAGAGGAAG 0.552 23 79 --- --- --- --- PASS PRAM1 84106 broad.mit.edu 37 19 8564041 8564041 + Silent SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr19:8564041C>T uc002mkd.2 - 2 671 c.651G>A c.(649-651)GCG>GCA p.A217A PRAM1_uc002mkc.2_Silent_p.A217A NM_032152 NP_115528 Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 265 Pro-rich. lipid binding|protein binding 0 ACTCAGGCTGCGCAGGCTTCT 0.637 13 39 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9068663 9068663 + Silent SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr19:9068663C>T uc002mkp.2 - 3 18987 c.18783G>A c.(18781-18783)AAG>AAA p.K6261K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6263 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 TGTCTGTGATCTTCGCCAGTG 0.473 36 149 --- --- --- --- PASS ZNF266 10781 broad.mit.edu 37 19 9526346 9526346 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr19:9526346G>C uc002mll.2 - 3 454 c.188C>G c.(187-189)TCC>TGC p.S63C ZNF266_uc002mlm.2_Missense_Mutation_p.S63C|ZNF266_uc002mln.2_Missense_Mutation_p.S63C|ZNF266_uc002mlo.2_Missense_Mutation_p.S63C|ZNF266_uc010dwp.2_Missense_Mutation_p.S63C|ZNF266_uc010dwq.2_Missense_Mutation_p.S63C NM_198058 NP_932175 Q14584 ZN266_HUMAN zinc finger protein 266 63 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AATCCCACTGGAGGTTGGCTC 0.363 46 112 --- --- --- --- PASS PDE4A 5141 broad.mit.edu 37 19 10577637 10577637 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr19:10577637G>C uc002moj.2 + 15 2109 c.2001G>C c.(1999-2001)GAG>GAC p.E667D PDE4A_uc002mok.2_Missense_Mutation_p.E641D|PDE4A_uc002mol.2_Missense_Mutation_p.E606D|PDE4A_uc002mom.2_Missense_Mutation_p.E428D|PDE4A_uc002mon.2_Missense_Mutation_p.E122D|PDE4A_uc002moo.2_3'UTR NM_001111307 NP_001104777 P27815 PDE4A_HUMAN phosphodiesterase 4A isoform 1 667 Catalytic. signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) ATGCCCAGGAGATCTTGGACA 0.582 5 187 --- --- --- --- PASS ZNF491 126069 broad.mit.edu 37 19 11917176 11917176 + Silent SNP T C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr19:11917176T>C uc002mso.1 + 3 693 c.408T>C c.(406-408)TGT>TGC p.C136C NM_152356 NP_689569 Q8N8L2 ZN491_HUMAN zinc finger protein 491 136 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GTAAGTTTTGTGGGAAAGCCT 0.378 56 142 --- --- --- --- PASS TRMT1 55621 broad.mit.edu 37 19 13226547 13226547 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr19:13226547C>A uc002mwj.2 - 3 596 c.346G>T c.(346-348)GTC>TTC p.V116F NACC1_uc002mwm.2_5'Flank|TRMT1_uc002mwk.2_Missense_Mutation_p.V116F|TRMT1_uc002mwl.3_Missense_Mutation_p.V116F|TRMT1_uc010xmz.1_5'UTR NM_017722 NP_060192 Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 isoform 1 116 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) AAGTCCACGACCACTTTTTGC 0.532 191 437 --- --- --- --- PASS ZSWIM4 65249 broad.mit.edu 37 19 13915621 13915621 + Missense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr19:13915621G>A uc002mxh.1 + 3 560 c.371G>A c.(370-372)GGA>GAA p.G124E ZSWIM4_uc010xng.1_5'UTR NM_023072 NP_075560 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 124 zinc ion binding central_nervous_system(2) 2 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) CACCTGAGCGGAAACATCCGC 0.577 OREG0025298 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 81 --- --- --- --- PASS CYP4F2 8529 broad.mit.edu 37 19 16000383 16000383 + Silent SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr19:16000383G>A uc002nbs.1 - 7 818 c.768C>T c.(766-768)TTC>TTT p.F256F CYP4F2_uc010xot.1_Silent_p.F107F|CYP4F2_uc010xou.1_Silent_p.F107F NM_001082 NP_001073 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, 256 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding ovary(1)|skin(1) 2 AGGCCCTGCGGAAACGCTGCC 0.572 46 223 --- --- --- --- PASS CHERP 10523 broad.mit.edu 37 19 16641678 16641678 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr19:16641678C>T uc002nei.1 - 6 762 c.688G>A c.(688-690)GCC>ACC p.A230T MED26_uc002nee.2_Intron NM_006387 NP_006378 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum 230 CID. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding ovary(2) 2 AGCTCCCGGGCCTGCTTGCGC 0.692 15 85 --- --- --- --- PASS CPAMD8 27151 broad.mit.edu 37 19 17088306 17088306 + Missense_Mutation SNP A C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr19:17088306A>C uc002nfb.2 - 15 1803 c.1771T>G c.(1771-1773)TCT>GCT p.S591A NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 544 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 AGATGAAGAGAGGTCACACAC 0.592 13 87 --- --- --- --- PASS ZNF254 9534 broad.mit.edu 37 19 24309505 24309505 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr19:24309505G>C uc002nru.2 + 4 837 c.703G>C c.(703-705)GAG>CAG p.E235Q ZNF254_uc010xrk.1_Missense_Mutation_p.E150Q NM_203282 NP_975011 O75437 ZN254_HUMAN zinc finger protein 254 235 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) TTATACTGAAGAGAAACCTTA 0.328 49 97 --- --- --- --- PASS KIAA0355 9710 broad.mit.edu 37 19 34791809 34791809 + Missense_Mutation SNP T A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr19:34791809T>A uc002nvd.3 + 2 1290 c.431T>A c.(430-432)ATG>AAG p.M144K KIAA0355_uc010edk.1_Missense_Mutation_p.M134K NM_014686 NP_055501 O15063 K0355_HUMAN hypothetical protein LOC9710 144 ovary(1) 1 Esophageal squamous(110;0.162) AAGATGCTAATGGAACTTAGT 0.478 11 147 --- --- --- --- PASS ZNF573 126231 broad.mit.edu 37 19 38229990 38229990 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr19:38229990C>G uc002ohe.2 - 4 1423 c.1401G>C c.(1399-1401)AAG>AAC p.K467N ZNF573_uc010efs.2_Missense_Mutation_p.K380N|ZNF573_uc002ohd.2_Missense_Mutation_p.K465N|ZNF573_uc002ohf.2_Missense_Mutation_p.K409N|ZNF573_uc002ohg.2_Missense_Mutation_p.K379N NM_152360 NP_689573 Q86YE8 ZN573_HUMAN zinc finger protein 573 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) CAAAAAGTTTCTTACCAGTGT 0.348 46 211 --- --- --- --- PASS PRX 57716 broad.mit.edu 37 19 40903752 40903752 + Silent SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr19:40903752G>A uc002onr.2 - 7 776 c.507C>T c.(505-507)GGC>GGT p.G169G PRX_uc002onq.2_Silent_p.G30G|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 169 Arg/Lys-rich (basic).|Nuclear localization signal (By similarity). axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CGGCTTTGAGGCCCCGACGCA 0.672 5 16 --- --- --- --- PASS LTBP4 8425 broad.mit.edu 37 19 41125356 41125356 + Missense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr19:41125356G>A uc002ooh.1 + 26 3376 c.3376G>A c.(3376-3378)GAC>AAC p.D1126N LTBP4_uc002oog.1_Missense_Mutation_p.D1089N|LTBP4_uc002ooi.1_Missense_Mutation_p.D1059N|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Missense_Mutation_p.D260N|LTBP4_uc002ool.1_Missense_Mutation_p.D138N|LTBP4_uc002oom.1_RNA|LTBP4_uc010xvp.1_5'UTR NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding 1126 Pro-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) GGAAGAGTTTGACCCCATGAC 0.542 62 101 --- --- --- --- PASS ITPKC 80271 broad.mit.edu 37 19 41224129 41224129 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr19:41224129C>G uc002oot.2 + 1 1122 c.1089C>G c.(1087-1089)TTC>TTG p.F363L ADCK4_uc002oor.2_5'Flank|ADCK4_uc002oos.2_5'Flank NM_025194 NP_079470 Q96DU7 IP3KC_HUMAN inositol 1,4,5-trisphosphate 3-kinase C 363 cytoplasm|nucleus ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity 0 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CCTCTTCTTTCGACGAGTCTG 0.667 27 123 --- --- --- --- PASS ITPKC 80271 broad.mit.edu 37 19 41245400 41245400 + Missense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr19:41245400G>A uc002oot.2 + 7 2020 c.1987G>A c.(1987-1989)GAG>AAG p.E663K NM_025194 NP_079470 Q96DU7 IP3KC_HUMAN inositol 1,4,5-trisphosphate 3-kinase C 663 cytoplasm|nucleus ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity 0 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) GGGCAACCGTGAGGACGGCTA 0.637 12 33 --- --- --- --- PASS ZFP112 7771 broad.mit.edu 37 19 44833689 44833689 + Silent SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr19:44833689G>T uc010ejj.2 - 5 752 c.639C>A c.(637-639)GTC>GTA p.V213V ZFP112_uc002ozc.3_Silent_p.V207V|ZFP112_uc010xwy.1_Silent_p.V230V|ZFP112_uc010xwz.1_Silent_p.V212V NM_001083335 NP_001076804 Q9UJU3 ZF112_HUMAN zinc finger protein 228 isoform 1 213 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2) 5 AGAGCCAACTGACACTGTCAC 0.358 111 218 --- --- --- --- PASS ZC3H4 23211 broad.mit.edu 37 19 47570093 47570093 + Silent SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr19:47570093G>A uc002pga.3 - 15 3470 c.3432C>T c.(3430-3432)AGC>AGT p.S1144S ZC3H4_uc002pgb.1_RNA NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 1144 nucleic acid binding|zinc ion binding skin(4)|ovary(2) 6 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) GGCTGATACCGCTCAGCACAC 0.716 7 11 --- --- --- --- PASS C5AR1 728 broad.mit.edu 37 19 47823920 47823920 + Missense_Mutation SNP A C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr19:47823920A>C uc002pgj.1 + 2 935 c.886A>C c.(886-888)AAC>CAC p.N296H NM_001736 NP_001727 P21730 C5AR_HUMAN complement component 5 receptor 1 296 Helical; Name=7; (Potential). activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) CTGCTGCATCAACCCCATCAT 0.582 7 280 --- --- --- --- PASS SHANK1 50944 broad.mit.edu 37 19 51165684 51165684 + Silent SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr19:51165684C>T uc002psx.1 - 23 6043 c.6024G>A c.(6022-6024)GAG>GAA p.E2008E SHANK1_uc002psw.1_Silent_p.E1392E NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 2008 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) TGACCTTGTGCTCCGAGGCGG 0.716 3 9 --- --- --- --- PASS LILRB3 11025 broad.mit.edu 37 19 54745997 54745997 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr19:54745997G>T uc010erh.1 - 3 384 c.260C>A c.(259-261)TCC>TAC p.S87Y LILRA6_uc002qew.1_Missense_Mutation_p.S87Y|LILRB3_uc002qeh.1_Missense_Mutation_p.S87Y|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.S87Y|LILRA6_uc002qek.1_Missense_Mutation_p.S87Y|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Missense_Mutation_p.S87Y|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.S87Y|LILRB3_uc002qep.1_Missense_Mutation_p.S87Y|LILRB3_uc002qeq.1_Missense_Mutation_p.S87Y|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.S87Y|LILRA6_uc010yep.1_Missense_Mutation_p.S87Y|LILRA6_uc010yeq.1_Missense_Mutation_p.S87Y|LILRA6_uc002qet.3_RNA|LILRA6_uc002qeu.1_Missense_Mutation_p.S87Y|LILRA6_uc002qev.1_5'Flank NM_006864 NP_006855 O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, 87 Extracellular (Potential).|Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity skin(2)|ovary(1) 3 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGTGTCATGGATGGGATGGA 0.567 64 503 --- --- --- --- PASS SNRPB 6628 broad.mit.edu 37 20 2443759 2443759 + Missense_Mutation SNP T C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr20:2443759T>C uc002wfz.1 - 5 698 c.535A>G c.(535-537)ATG>GTG p.M179V SNRPB_uc002wga.1_Missense_Mutation_p.M179V|SNRPB_uc010zpv.1_Missense_Mutation_p.M100V|SNRPB_uc002wgb.2_Missense_Mutation_p.M179V|SNORD119_uc010gam.1_5'Flank NM_198216 NP_937859 P14678 RSMB_HUMAN small nuclear ribonucleoprotein polypeptide B/B' 179 |Repeat-rich region. histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|protein binding|RNA binding ovary(1) 1 CCTCGGCCCATAGGTGGGGGA 0.577 79 291 --- --- --- --- PASS NOP56 10528 broad.mit.edu 37 20 2635176 2635176 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr20:2635176G>C uc002wgh.2 + 4 378 c.325G>C c.(325-327)GGG>CGG p.G109R NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_5'UTR|SNORA51_uc002wgk.1_5'Flank|NOP56_uc002wgm.1_5'Flank|SNORD86_uc010gaq.1_5'Flank|SNORD56_uc010gar.2_5'Flank|SNORD57_uc002wgo.1_5'Flank NM_006392 NP_006383 O00567 NOP56_HUMAN nucleolar protein 5A 109 rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding ovary(1)|pancreas(1) 2 GGAGGAGTTAGGGTACAACTG 0.522 45 186 --- --- --- --- PASS C20orf26 26074 broad.mit.edu 37 20 20177306 20177306 + Missense_Mutation SNP T A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr20:20177306T>A uc002wru.2 + 16 1759 c.1683T>A c.(1681-1683)TTT>TTA p.F561L C20orf26_uc010zse.1_Missense_Mutation_p.F541L NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 561 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) TGCATCACTTTGCCCTCAACC 0.453 82 117 --- --- --- --- PASS C20orf117 140710 broad.mit.edu 37 20 35425292 35425292 + Missense_Mutation SNP A C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr20:35425292A>C uc002xgd.1 - 13 3088 c.2761T>G c.(2761-2763)TTA>GTA p.L921V C20orf117_uc002xge.1_RNA NM_199181 NP_954650 O94964 K0889_HUMAN hypothetical protein LOC140710 isoform 2 921 0 Myeloproliferative disorder(115;0.00874) CACCTCTTTAAACCATTTCCT 0.587 23 103 --- --- --- --- PASS ZNFX1 57169 broad.mit.edu 37 20 47864358 47864358 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr20:47864358C>G uc002xui.2 - 14 5450 c.5203G>C c.(5203-5205)GAA>CAA p.E1735Q NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1735 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TGGACCTGTTCTAGTCGAGTC 0.493 96 142 --- --- --- --- PASS GRIK1 2897 broad.mit.edu 37 21 30909641 30909641 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr21:30909641C>G uc011acs.1 - 17 3137 c.2673G>C c.(2671-2673)AAG>AAC p.K891N GRIK1_uc002ynn.2_Missense_Mutation_p.K876N|GRIK1_uc011act.1_Missense_Mutation_p.K752N NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 Error:Variant_position_missing_in_P39086_after_alignment central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TTGACTTTTTCTTTATTTTTT 0.393 52 41 --- --- --- --- PASS SFRS15 57466 broad.mit.edu 37 21 33065678 33065678 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr21:33065678C>A uc002ypd.2 - 12 1868 c.1442G>T c.(1441-1443)AGA>ATA p.R481I SFRS15_uc002ype.2_Missense_Mutation_p.R481I|SFRS15_uc010glu.2_Missense_Mutation_p.R466I|SFRS15_uc002ypf.1_Missense_Mutation_p.R155I NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 481 nucleus nucleotide binding|RNA binding 0 TCGATCCCGTCTTTCTTGAGA 0.483 51 97 --- --- --- --- PASS SIM2 6493 broad.mit.edu 37 21 38072165 38072165 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr21:38072165C>T uc002yvr.2 + 1 175 c.119C>T c.(118-120)GCG>GTG p.A40V SIM2_uc002yvp.2_Missense_Mutation_p.A40V|SIM2_uc002yvq.2_Missense_Mutation_p.A40V NM_005069 NP_005060 Q14190 SIM2_HUMAN single-minded homolog 2 long isoform 40 Helix-loop-helix motif. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(1) 1 CTGGACAAAGCGTCCATCATC 0.647 10 4 --- --- --- --- PASS HLCS 3141 broad.mit.edu 37 21 38309157 38309157 + Silent SNP A T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr21:38309157A>T uc010gnb.2 - 4 1789 c.588T>A c.(586-588)ATT>ATA p.I196I HLCS_uc002yvs.2_Silent_p.I196I|HLCS_uc010gnc.1_Silent_p.I343I NM_000411 NP_000402 P50747 BPL1_HUMAN holocarboxylase synthetase 196 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding ovary(2)|breast(1)|kidney(1)|liver(1) 5 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) GGTGGTAGAGAATATAACTGT 0.577 18 64 --- --- --- --- PASS MCM3AP 8888 broad.mit.edu 37 21 47704496 47704496 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr21:47704496C>G uc002zir.1 - 1 741 c.705G>C c.(703-705)AAG>AAC p.K235N C21orf57_uc002zit.1_5'Flank|C21orf57_uc002ziu.1_5'Flank|C21orf57_uc002ziv.2_5'Flank|C21orf57_uc002ziw.2_5'Flank|C21orf57_uc002zix.2_5'Flank|C21orf57_uc010gqh.2_5'Flank|C21orf57_uc002ziy.2_5'Flank NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 235 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) TAGGTCCTCTCTTCTCTTCCT 0.393 32 108 --- --- --- --- PASS PI4KA 5297 broad.mit.edu 37 22 21101933 21101933 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr22:21101933C>T uc002zsz.3 - 29 3358 c.3127G>A c.(3127-3129)GCC>ACC p.A1043T NM_058004 NP_477352 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase type 3 alpha 1043 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) GTGGCCATGGCCAGCCCCGTG 0.483 4 142 --- --- --- --- PASS C22orf43 51233 broad.mit.edu 37 22 23962792 23962792 + Nonsense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr22:23962792G>T uc002zxf.2 - 5 672 c.395C>A c.(394-396)TCA>TAA p.S132* NM_016449 NP_057533 Q6PGQ1 CV043_HUMAN hypothetical protein LOC51233 132 Asp-rich. skin(1) 1 CTGGACACGTGACGGTAAAAT 0.393 48 196 --- --- --- --- PASS FOXRED2 80020 broad.mit.edu 37 22 36900335 36900335 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr22:36900335C>G uc003apn.3 - 3 967 c.859G>C c.(859-861)GCC>CCC p.A287P FOXRED2_uc003apo.3_Missense_Mutation_p.A287P|FOXRED2_uc003app.3_Missense_Mutation_p.A287P NM_024955 NP_079231 Q8IWF2 FXRD2_HUMAN FAD-dependent oxidoreductase domain containing 2 287 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding lung(1)|kidney(1) 2 TTCAGGATGGCCAGATCCGTC 0.567 30 132 --- --- --- --- PASS PVALB 5816 broad.mit.edu 37 22 37211230 37211230 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr22:37211230C>G uc010gwz.2 - 2 141 c.111G>C c.(109-111)AAG>AAC p.K37N PVALB_uc003apx.2_Missense_Mutation_p.K37N NM_002854 NP_002845 P20472 PRVA_HUMAN parvalbumin 37 calcium ion binding skin(1) 1 CACTCTTTTTCTTCAGGCCGA 0.522 3 138 --- --- --- --- PASS TRIOBP 11078 broad.mit.edu 37 22 38121718 38121718 + Missense_Mutation SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr22:38121718C>A uc003atr.2 + 7 3426 c.3155C>A c.(3154-3156)CCC>CAC p.P1052H TRIOBP_uc003atu.2_Missense_Mutation_p.P880H|TRIOBP_uc003atq.1_Missense_Mutation_p.P1052H|TRIOBP_uc003ats.1_Missense_Mutation_p.P880H NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 1052 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) AGTGAACCGCCCCACCACGAG 0.672 95 85 --- --- --- --- PASS TMEM184B 25829 broad.mit.edu 37 22 38621457 38621457 + Missense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr22:38621457G>A uc003avf.1 - 7 985 c.761C>T c.(760-762)TCC>TTC p.S254F TMEM184B_uc003avg.1_Missense_Mutation_p.S254F|TMEM184B_uc003avh.1_Missense_Mutation_p.S188F|TMEM184B_uc010gxl.1_RNA NM_012264 NP_036396 Q9Y519 T184B_HUMAN transmembrane protein 184B 254 Helical; (Potential). integral to membrane 0 Melanoma(58;0.045) AAAGATGACGGACTTGACCAT 0.617 51 109 --- --- --- --- PASS RPL3 6122 broad.mit.edu 37 22 39709250 39709250 + Silent SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr22:39709250G>A uc003axi.2 - 9 1181 c.1113C>T c.(1111-1113)ACC>ACT p.T371T RPL3_uc003axh.2_Silent_p.T322T|RPL3_uc003axj.2_Silent_p.T219T|RPL3_uc010gxx.2_Intron|RPL3_uc003axg.2_Silent_p.T319T|RPL3_uc003axk.1_Silent_p.T219T NM_000967 NP_000958 P39023 RL3_HUMAN ribosomal protein L3 isoform a 371 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome breast(1)|kidney(1) 2 Melanoma(58;0.04) CAAACTTGGAGGTGGTGTCAA 0.572 11 22 --- --- --- --- PASS TNRC6B 23112 broad.mit.edu 37 22 40661018 40661018 + Missense_Mutation SNP G T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr22:40661018G>T uc011aor.1 + 5 995 c.784G>T c.(784-786)GAC>TAC p.D262Y TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Missense_Mutation_p.D262Y|TNRC6B_uc003ayo.2_Missense_Mutation_p.D66Y NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B isoform 1 262 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding 0 CTGGAAATCTGACCCTAAGGC 0.463 23 140 --- --- --- --- PASS TNRC6B 23112 broad.mit.edu 37 22 40676076 40676076 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr22:40676076G>C uc011aor.1 + 10 3551 c.3340G>C c.(3340-3342)GAT>CAT p.D1114H TNRC6B_uc003aym.2_Missense_Mutation_p.D367H|TNRC6B_uc003ayn.3_Missense_Mutation_p.D1061H|TNRC6B_uc003ayo.2_Missense_Mutation_p.D918H NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B isoform 1 1114 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding 0 CATGAGGAAGGATCGATCTGG 0.403 6 382 --- --- --- --- PASS PNPLA5 150379 broad.mit.edu 37 22 44285245 44285245 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr22:44285245G>C uc003beg.2 - 4 763 c.666C>G c.(664-666)TTC>TTG p.F222L PNPLA5_uc011aqc.1_Missense_Mutation_p.F82L|PNPLA5_uc003beh.2_Missense_Mutation_p.F108L NM_138814 NP_620169 Q7Z6Z6 PLPL5_HUMAN patatin-like phospholipase domain containing 5 222 lipid catabolic process hydrolase activity 0 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) TGAGCCCCAGGAAGAAGTTCT 0.567 40 255 --- --- --- --- PASS LDOC1L 84247 broad.mit.edu 37 22 44892926 44892926 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr22:44892926C>T uc003beu.1 - 2 848 c.511G>A c.(511-513)GCA>ACA p.A171T NM_032287 NP_115663 Q6ICC9 LDOCL_HUMAN leucine zipper, down-regulated in cancer 1-like 171 ovary(1) 1 Ovarian(80;0.024)|all_neural(38;0.0416) LUAD - Lung adenocarcinoma(64;0.0161) CGCAACTCTGCCAGGAACCCC 0.597 36 65 --- --- --- --- PASS CELSR1 9620 broad.mit.edu 37 22 46780531 46780531 + Silent SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr22:46780531C>A uc003bhw.1 - 20 6792 c.6792G>T c.(6790-6792)CCG>CCT p.P2264P CELSR1_uc011arc.1_Silent_p.P585P NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 2264 Extracellular (Potential). central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TGTCGAATCGCGGGACCCTGG 0.522 38 53 --- --- --- --- PASS MOV10L1 54456 broad.mit.edu 37 22 50582559 50582559 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr22:50582559G>C uc003bjj.2 + 18 2475 c.2392G>C c.(2392-2394)GTC>CTC p.V798L MOV10L1_uc003bjk.3_Missense_Mutation_p.V798L|MOV10L1_uc011arp.1_Missense_Mutation_p.V778L|MOV10L1_uc003bjl.2_5'Flank NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN MOV10-like 1 isoform 1 798 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding ovary(2)|skin(1) 3 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) TCGGATTTTAGTCTGTGCGCC 0.572 9 559 --- --- --- --- PASS GEMIN8 54960 broad.mit.edu 37 X 14038351 14038351 + Missense_Mutation SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chrX:14038351G>C uc004cwb.2 - 4 661 c.318C>G c.(316-318)ATC>ATG p.I106M GEMIN8_uc004cwc.2_Missense_Mutation_p.I106M|GEMIN8_uc004cwd.2_Missense_Mutation_p.I106M NM_017856 NP_060326 Q9NWZ8 GEMI8_HUMAN gem (nuclear organelle) associated protein 8 106 spliceosomal snRNP assembly Cajal body|cytoplasm|SMN complex|spliceosomal complex protein binding 0 TGGATGCCTGGATCCTACTGC 0.483 77 78 --- --- --- --- PASS GRPR 2925 broad.mit.edu 37 X 16170713 16170713 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chrX:16170713C>G uc004cxj.2 + 3 1753 c.1100C>G c.(1099-1101)TCC>TGC p.S367C NM_005314 NP_005305 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 367 Cytoplasmic (Potential). cell proliferation integral to plasma membrane bombesin receptor activity ovary(3)|lung(1) 4 Hepatocellular(33;0.183) ACCAACCCCTCCGTGGCCACC 0.532 78 88 --- --- --- --- PASS TBC1D25 4943 broad.mit.edu 37 X 48418401 48418401 + Missense_Mutation SNP G A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chrX:48418401G>A uc004dka.1 + 6 1216 c.1105G>A c.(1105-1107)GAC>AAC p.D369N TBC1D25_uc011mly.1_Missense_Mutation_p.D311N|TBC1D25_uc004dkb.1_Missense_Mutation_p.D115N|TBC1D25_uc011mlz.1_Missense_Mutation_p.D115N|TBC1D25_uc011mma.1_Missense_Mutation_p.D115N|TBC1D25_uc004dkc.1_Missense_Mutation_p.D115N|TBC1D25_uc011mmb.1_Missense_Mutation_p.D373N|TBC1D25_uc011mmc.1_Missense_Mutation_p.D115N|TBC1D25_uc011mmd.1_Missense_Mutation_p.D115N NM_002536 NP_002527 Q3MII6 TBC25_HUMAN TBC1 domain family, member 25 369 Rab-GAP TBC. intracellular Rab GTPase activator activity ovary(1) 1 CTTCCACCCTGACGGCCGCGC 0.562 20 7 --- --- --- --- PASS KCND1 3750 broad.mit.edu 37 X 48826210 48826210 + Missense_Mutation SNP C T T rs147309267 TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chrX:48826210C>T uc004dlx.1 - 1 2042 c.469G>A c.(469-471)GGG>AGG p.G157R KCND1_uc004dlw.1_5'Flank NM_004979 NP_004970 Q9NSA2 KCND1_HUMAN potassium voltage-gated channel, Shal-related 157 Cytoplasmic (Potential). voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity ovary(2)|lung(1) 3 GGGCCGTCCCCGGCCTGCTCT 0.647 6 8 --- --- --- --- PASS FAAH2 158584 broad.mit.edu 37 X 57313306 57313306 + Silent SNP G C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chrX:57313306G>C uc004dvc.2 + 1 197 c.48G>C c.(46-48)GCG>GCC p.A16A NM_174912 NP_777572 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 16 Helical; (Potential). integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity ovary(3) 3 TCTTGCGGGCGCTAGGCTTTC 0.567 HNSCC(52;0.14) 7 18 --- --- --- --- PASS STARD8 9754 broad.mit.edu 37 X 67940189 67940189 + Missense_Mutation SNP T C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chrX:67940189T>C uc004dxa.2 + 7 2105 c.1733T>C c.(1732-1734)GTG>GCG p.V578A STARD8_uc004dxb.2_Missense_Mutation_p.V658A|STARD8_uc004dxc.3_Missense_Mutation_p.V578A NM_014725 NP_055540 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain 578 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity breast(3)|ovary(2)|pancreas(1) 6 CTCATCCACGTGCAGCGCACG 0.607 12 0 --- --- --- --- PASS RLIM 51132 broad.mit.edu 37 X 73812708 73812708 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chrX:73812708C>G uc004ebu.2 - 5 732 c.442G>C c.(442-444)GGG>CGG p.G148R RLIM_uc004ebw.2_Missense_Mutation_p.G148R NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 148 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 TTTTGGCTCCCATTATTACGG 0.418 5 296 --- --- --- --- PASS GPR174 84636 broad.mit.edu 37 X 78426582 78426582 + Nonsense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chrX:78426582C>G uc004edg.1 + 1 114 c.78C>G c.(76-78)TAC>TAG p.Y26* NM_032553 NP_115942 Q9BXC1 GP174_HUMAN putative purinergic receptor FKSG79 26 Extracellular (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1)|central_nervous_system(1) 2 CAGTGACATACACTGTCATTC 0.373 HNSCC(63;0.18) 4 59 --- --- --- --- PASS TBX22 50945 broad.mit.edu 37 X 79282760 79282760 + Silent SNP G C C rs150811689 byFrequency TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chrX:79282760G>C uc010nmg.1 + 7 938 c.804G>C c.(802-804)ACG>ACC p.T268T TBX22_uc004edi.1_Silent_p.T148T|TBX22_uc004edj.1_Silent_p.T268T NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 268 T-box. multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 CATAGATTACGAAACTAAAAA 0.348 15 7 --- --- --- --- PASS DIAPH2 1730 broad.mit.edu 37 X 96684741 96684741 + Missense_Mutation SNP C G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chrX:96684741C>G uc004efu.3 + 26 3634 c.3238C>G c.(3238-3240)CCA>GCA p.P1080A DIAPH2_uc004eft.3_Missense_Mutation_p.P1080A NM_006729 NP_006720 O60879 DIAP2_HUMAN diaphanous 2 isoform 156 1080 DAD. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding ovary(3)|lung(1) 4 TCCAAGGAATCCAGGTAAAAC 0.393 38 30 --- --- --- --- PASS ARHGAP36 158763 broad.mit.edu 37 X 130217169 130217169 + Missense_Mutation SNP A G G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chrX:130217169A>G uc004evz.2 + 3 629 c.284A>G c.(283-285)GAT>GGT p.D95G ARHGAP36_uc004ewa.2_Missense_Mutation_p.D83G|ARHGAP36_uc004ewb.2_Missense_Mutation_p.D64G|ARHGAP36_uc004ewc.2_5'Flank NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 95 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 AACACCTTGGATAAGTGGTTT 0.413 152 60 --- --- --- --- PASS SPANXN2 494119 broad.mit.edu 37 X 142795457 142795457 + Missense_Mutation SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chrX:142795457C>T uc004fbz.2 - 2 975 c.221G>A c.(220-222)CGA>CAA p.R74Q NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN SPANX-N2 protein 74 ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) GGAGTTCTCTCGGGACTGGTC 0.428 7 392 --- --- --- --- PASS ATP2B3 492 broad.mit.edu 37 X 152823611 152823611 + Silent SNP C T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chrX:152823611C>T uc004fht.1 + 15 2601 c.2475C>T c.(2473-2475)ATC>ATT p.I825I ATP2B3_uc004fhs.1_Silent_p.I825I|ATP2B3_uc010nuf.1_5'Flank NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 825 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCTCCGACATCATCCTGACCG 0.597 147 39 --- --- --- --- PASS L1CAM 3897 broad.mit.edu 37 X 153132842 153132842 + Silent SNP C A A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chrX:153132842C>A uc004fjb.2 - 16 2214 c.2106G>T c.(2104-2106)CCG>CCT p.P702P L1CAM_uc004fjc.2_Silent_p.P702P|L1CAM_uc010nuo.2_Silent_p.P697P NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 702 Fibronectin type-III 1.|Extracellular (Potential). axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCTCAGAGACCGGGCTGGGCT 0.602 162 47 --- --- --- --- PASS SMPD4 55627 broad.mit.edu 37 2 130912742 130912742 + Frame_Shift_Del DEL G - - TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr2:130912742delG uc002tqq.1 - 15 2017 c.1497delC c.(1495-1497)CCCfs p.P499fs SMPD4_uc002tqo.1_5'UTR|SMPD4_uc002tqp.1_Frame_Shift_Del_p.P238fs|SMPD4_uc010yzy.1_Frame_Shift_Del_p.P248fs|SMPD4_uc010yzz.1_Frame_Shift_Del_p.P163fs|SMPD4_uc002tqr.1_Frame_Shift_Del_p.P470fs|SMPD4_uc002tqs.1_Frame_Shift_Del_p.P367fs|SMPD4_uc002tqt.1_Frame_Shift_Del_p.P348fs|SMPD4_uc010zaa.1_Frame_Shift_Del_p.P357fs|SMPD4_uc010zab.1_Frame_Shift_Del_p.P397fs|SMPD4_uc010zac.1_Frame_Shift_Del_p.P240fs|SMPD4_uc010zad.1_Frame_Shift_Del_p.P135fs NM_017951 NP_060421 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4 isoform 2 460 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity 0 Colorectal(110;0.1) Phosphatidylserine(DB00144) GCGCGTGCTTGGGGCTGACCA 0.602 92 49 --- --- --- --- FAM40B 57464 broad.mit.edu 37 7 129125451 129125453 + In_Frame_Del DEL AGA - - TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr7:129125451_129125453delAGA uc011koy.1 + 21 2326_2328 c.2286_2288delAGA c.(2284-2289)GCAGAA>GCA p.E764del FAM40B_uc011koz.1_In_Frame_Del_p.E256del NM_020704 NP_065755 Q9ULQ0 FA40B_HUMAN hypothetical protein LOC57464 isoform a 764 0 ACTTCCAAGCAGAAGAATGTACC 0.488 90 56 --- --- --- --- BHLHE41 79365 broad.mit.edu 37 12 26275572 26275583 + In_Frame_Del DEL GCCGCCGCCGCT - - rs12831005 TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr12:26275572_26275583delGCCGCCGCCGCT uc001rhb.2 - 5 1156_1167 c.865_876delAGCGGCGGCGGC c.(865-876)AGCGGCGGCGGCdel p.SGGG289del NM_030762 NP_110389 Q9C0J9 BHE41_HUMAN basic helix-loop-helix domain containing, class 289_292 cell differentiation|cell proliferation|organ morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 cgccccccgggccgccgccgctgccgccgccg 0.542 4 2 --- --- --- --- ORAI1 84876 broad.mit.edu 37 12 122079130 122079131 + Frame_Shift_Ins INS - C C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr12:122079130_122079131insC uc010szz.1 + 3 680_681 c.487_488insC c.(487-489)TCCfs p.S163fs NM_032790 NP_116179 Q96D31 CRCM1_HUMAN calcium release-activated calcium channel 163 Cytoplasmic (Potential). platelet activation|positive regulation of calcium ion transport integral to plasma membrane protein binding|store-operated calcium channel activity 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148) GGTCAAGGAGTCCCCCCATGAG 0.619 55 32 --- --- --- --- NFAT5 10725 broad.mit.edu 37 16 69726958 69726959 + Frame_Shift_Ins INS - T T TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr16:69726958_69726959insT uc002exm.1 + 12 4384_4385 c.3176_3177insT c.(3175-3177)AATfs p.N1059fs NFAT5_uc002exi.2_Frame_Shift_Ins_p.N983fs|NFAT5_uc002exj.1_Frame_Shift_Ins_p.N983fs|NFAT5_uc002exk.1_Frame_Shift_Ins_p.N983fs|NFAT5_uc002exl.1_Frame_Shift_Ins_p.N1077fs|NFAT5_uc002exn.1_Frame_Shift_Ins_p.N1076fs|NFAT5_uc002exo.1_RNA NM_006599 NP_006590 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5 isoform c 1059 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 CAATCTGGAAATTTTTTGCAGC 0.411 272 131 --- --- --- --- ZBED4 9889 broad.mit.edu 37 22 50280595 50280596 + Frame_Shift_Del DEL AC - - TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 71c4e854-a704-4787-a37a-fa6642ca5dac bf99451b-c7c8-48d9-af74-8ca9486fc9da g.chr22:50280595_50280596delAC uc003bix.2 + 2 3755_3756 c.3285_3286delAC c.(3283-3288)GAACACfs p.E1095fs NM_014838 NP_055653 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 1095_1096 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity ovary(2) 2 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) AGGTGCTTGAACACAGCTGTGA 0.579 76 44 --- --- --- ---