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 TAS1R1 80835 broad.mit.edu 37 1 6639480 6639480 + Silent SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:6639480C>T uc001ant.2 + 6 2362 c.2362C>T c.(2362-2364)CTG>TTG p.L788L TAS1R1_uc001anu.2_Silent_p.L534L|TAS1R1_uc001anv.2_Silent_p.T319T|TAS1R1_uc001anw.2_3'UTR|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN sweet taste receptor T1r isoform b 788 Extracellular (Potential). sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) CGGCAAGTACCTGCCTGCGGC 0.582 11 55 --- --- --- --- PASS UBE4B 10277 broad.mit.edu 37 1 10165736 10165736 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:10165736G>A uc001aqs.3 + 6 1456 c.743G>A c.(742-744)GGC>GAC p.G248D UBE4B_uc001aqr.3_Missense_Mutation_p.G248D|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_5'UTR NM_001105562 NP_001099032 O95155 UBE4B_HUMAN ubiquitination factor E4B isoform 1 248 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding ovary(2)|skin(2) 4 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) CTAAACACTGGCTCCAATCCA 0.507 35 113 --- --- --- --- PASS EXOSC10 5394 broad.mit.edu 37 1 11137693 11137693 + Nonsense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:11137693C>A uc001asa.2 - 15 1815 c.1765G>T c.(1765-1767)GGA>TGA p.G589* EXOSC10_uc001asb.2_Nonsense_Mutation_p.G589* NM_001001998 NP_001001998 Q01780 EXOSX_HUMAN exosome component 10 isoform 1 589 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding upper_aerodigestive_tract(1) 1 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) TTCTTCACTCCGGCTGCAACT 0.507 16 55 --- --- --- --- PASS HSPG2 3339 broad.mit.edu 37 1 22176642 22176642 + Silent SNP C T T rs141160393 TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:22176642C>T uc001bfj.2 - 57 7378 c.7338G>A c.(7336-7338)TCG>TCA p.S2446S HSPG2_uc009vqd.2_Silent_p.S2447S NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 2446 Ig-like C2-type 10. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CGGCCACTTGCGAAGACGATG 0.662 32 96 --- --- --- --- PASS CLIC4 25932 broad.mit.edu 37 1 25124287 25124287 + Missense_Mutation SNP A G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:25124287A>G uc001bjo.2 + 2 412 c.127A>G c.(127-129)ATG>GTG p.M43V CLIC4_uc001bjn.2_RNA|CLIC4_uc001bjp.1_Missense_Mutation_p.M23V NM_013943 NP_039234 Q9Y696 CLIC4_HUMAN chloride intracellular channel 4 43 Required for insertion into the membrane (Probable).|Helical; Note=After insertion into the membrane; (Potential). cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction voltage-gated chloride channel activity 0 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18) GAGGCTCTTCATGATTCTTTG 0.408 24 84 --- --- --- --- PASS ZSWIM5 57643 broad.mit.edu 37 1 45500116 45500116 + Missense_Mutation SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:45500116A>T uc001cnd.2 - 11 2545 c.2317T>A c.(2317-2319)TCT>ACT p.S773T NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN zinc finger, SWIM domain containing 5 773 zinc ion binding 0 Acute lymphoblastic leukemia(166;0.155) TCGCCTGCAGAAGCTGAGTTT 0.537 34 129 --- --- --- --- PASS LRRC42 115353 broad.mit.edu 37 1 54433427 54433427 + Missense_Mutation SNP G C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:54433427G>C uc001cwj.1 + 8 1302 c.1102G>C c.(1102-1104)GAG>CAG p.E368Q LRRC42_uc001cwl.1_Missense_Mutation_p.E368Q|LRRC42_uc001cwk.1_Missense_Mutation_p.E368Q|LRRC42_uc009vzm.1_Missense_Mutation_p.E364Q NM_052940 NP_443172 Q9Y546 LRC42_HUMAN leucine rich repeat containing 42 368 0 GTTCTATAAAGAGAAAGCCCC 0.507 23 65 --- --- --- --- PASS ELTD1 64123 broad.mit.edu 37 1 79383662 79383662 + Missense_Mutation SNP C G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:79383662C>G uc001diq.3 - 11 1691 c.1535G>C c.(1534-1536)GGC>GCC p.G512A NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 512 Helical; Name=3; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GAGATGTATGCCTTCAATGCA 0.378 42 173 --- --- --- --- PASS BRDT 676 broad.mit.edu 37 1 92430225 92430225 + Silent SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:92430225A>T uc001dok.3 + 3 583 c.234A>T c.(232-234)ACA>ACT p.T78T BRDT_uc001dol.3_Silent_p.T78T|BRDT_uc010osz.1_Silent_p.T78T|BRDT_uc009wdf.2_Silent_p.T5T|BRDT_uc010ota.1_Intron|BRDT_uc010otb.1_Intron|BRDT_uc001dom.3_Silent_p.T78T NM_207189 NP_997072 Q58F21 BRDT_HUMAN testis-specific bromodomain protein 78 Bromo 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity stomach(2)|ovary(1)|lung(1) 4 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) ATTTAAATACAATTAAGAAGC 0.264 20 59 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103481245 103481245 + Silent SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:103481245A>T uc001dul.2 - 12 1785 c.1467T>A c.(1465-1467)CCT>CCA p.P489P COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Silent_p.P501P|COL11A1_uc001dun.2_Silent_p.P450P|COL11A1_uc009weh.2_Silent_p.P373P NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 489 Triple-helical region (interrupted). collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ACATAGTACCAGGAGGACCAG 0.353 4 20 --- --- --- --- PASS KCNC4 3749 broad.mit.edu 37 1 110765934 110765934 + Silent SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:110765934C>T uc001dzh.2 + 2 1084 c.1027C>T c.(1027-1029)CTG>TTG p.L343L KCNC4_uc001dzf.2_Silent_p.L343L|KCNC4_uc009wfr.2_Silent_p.L343L|KCNC4_uc001dzg.2_Silent_p.L343L|KCNC4_uc001dzi.2_RNA NM_004978 NP_004969 Q03721 KCNC4_HUMAN Shaw-related voltage-gated potassium channel 343 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) CCGCGACGTGCTGGGCTTCCT 0.642 9 43 --- --- --- --- PASS KCND3 3752 broad.mit.edu 37 1 112318854 112318854 + Missense_Mutation SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:112318854A>T uc001ebu.1 - 8 2293 c.1813T>A c.(1813-1815)TGC>AGC p.C605S KCND3_uc001ebv.1_Missense_Mutation_p.C586S NM_004980 NP_004971 Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related 605 Cytoplasmic (Potential). sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding ovary(2)|large_intestine(1) 3 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) GATGTTTTGCAGTTTGGTCTC 0.577 18 56 --- --- --- --- PASS OR10K2 391107 broad.mit.edu 37 1 158390635 158390635 + Missense_Mutation SNP C G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:158390635C>G uc010pii.1 - 1 22 c.22G>C c.(22-24)GTG>CTG p.V8L NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, 8 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) TCTCTCACCACAGTCTCATTG 0.502 16 77 --- --- --- --- PASS PYHIN1 149628 broad.mit.edu 37 1 158908929 158908929 + Silent SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:158908929G>A uc001ftb.2 + 4 716 c.471G>A c.(469-471)GAG>GAA p.E157E PYHIN1_uc001fta.3_Silent_p.E157E|PYHIN1_uc001ftc.2_Silent_p.E148E|PYHIN1_uc001ftd.2_Silent_p.E157E|PYHIN1_uc001fte.2_Silent_p.E148E NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 alpha 1 157 cell cycle nuclear speck ovary(3)|pancreas(1) 4 all_hematologic(112;0.0378) TGTCCAAAGAGCAGACTCGGC 0.478 26 99 --- --- --- --- PASS POGK 57645 broad.mit.edu 37 1 166818285 166818285 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:166818285G>T uc001gdt.1 + 5 589 c.469G>T c.(469-471)GAT>TAT p.D157Y POGK_uc010ple.1_Missense_Mutation_p.D72Y|POGK_uc010plf.1_Missense_Mutation_p.D39Y NM_017542 NP_060012 Q9P215 POGK_HUMAN pogo transposable element with KRAB domain 157 multicellular organismal development|regulation of transcription, DNA-dependent nucleus DNA binding ovary(1) 1 TCTGCCTCGGGATATCACAGA 0.557 59 83 --- --- --- --- PASS LHX4 89884 broad.mit.edu 37 1 180199735 180199735 + Missense_Mutation SNP T G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:180199735T>G uc001goe.1 + 1 294 c.71T>G c.(70-72)ATG>AGG p.M24R NM_033343 NP_203129 Q969G2 LHX4_HUMAN LIM homeobox protein 4 24 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GGTGTGCCGATGCAACGTAAG 0.637 21 37 --- --- --- --- PASS TPR 7175 broad.mit.edu 37 1 186330008 186330008 + Nonsense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:186330008C>A uc001grv.2 - 10 1285 c.988G>T c.(988-990)GAG>TAG p.E330* TPR_uc010pop.1_Nonsense_Mutation_p.E406* NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 330 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TGCTCCACCTCTAGAAGATGA 0.323 T NTRK1 papillary thyroid 32 77 --- --- --- --- PASS FAM5C 339479 broad.mit.edu 37 1 190423959 190423959 + Missense_Mutation SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:190423959A>T uc001gse.1 - 2 294 c.62T>A c.(61-63)ATA>AAA p.I21K FAM5C_uc010pot.1_5'UTR NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 21 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) ACTCAGTGCTATCCACTCCCA 0.512 38 36 --- --- --- --- PASS CFHR5 81494 broad.mit.edu 37 1 196965150 196965150 + Splice_Site SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:196965150A>T uc001gts.3 + 6 919 c.791_splice c.e6-2 p.E264_splice NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN complement factor H-related 5 precursor complement activation, alternative pathway extracellular region breast(1)|skin(1) 2 ACATTTTCTTAGAACAAGTGA 0.343 47 191 --- --- --- --- PASS F13B 2165 broad.mit.edu 37 1 197021778 197021778 + Missense_Mutation SNP A G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:197021778A>G uc001gtt.1 - 9 1585 c.1541T>C c.(1540-1542)TTA>TCA p.L514S NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 514 Sushi 8. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TCTAGTACATAAAGGATATTT 0.318 20 107 --- --- --- --- PASS DENND1B 163486 broad.mit.edu 37 1 197522157 197522157 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:197522157C>A uc001guf.3 - 16 1573 c.1235G>T c.(1234-1236)TGT>TTT p.C412F DENND1B_uc010ppe.1_Missense_Mutation_p.C392F|DENND1B_uc010ppf.1_Intron|DENND1B_uc001gue.3_Missense_Mutation_p.C382F NM_144977 NP_659414 Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B isoform 2 412 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity 0 TTTACCTCCACAAAAGCCACC 0.343 41 105 --- --- --- --- PASS LGR6 59352 broad.mit.edu 37 1 202273705 202273705 + Silent SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:202273705C>A uc001gxu.2 + 11 1017 c.1017C>A c.(1015-1017)GGC>GGA p.G339G LGR6_uc001gxv.2_Silent_p.G287G|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Silent_p.G200G|LGR6_uc009xac.1_RNA NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN leucine-rich repeat-containing G protein-coupled 339 LRR 11.|Extracellular (Potential). integral to membrane|plasma membrane protein-hormone receptor activity large_intestine(4)|ovary(3)|skin(2)|pancreas(1) 10 CCCGCGCAGGCATCCGGCTGC 0.642 14 70 --- --- --- --- PASS SYT14 255928 broad.mit.edu 37 1 210273513 210273513 + Missense_Mutation SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:210273513A>T uc009xcv.2 + 6 943 c.871A>T c.(871-873)AAC>TAC p.N291Y SYT14_uc001hhs.3_Missense_Mutation_p.N336Y|SYT14_uc001hht.3_Missense_Mutation_p.N291Y|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Missense_Mutation_p.N336Y|SYT14_uc010pso.1_Missense_Mutation_p.N253Y NM_153262 NP_694994 Q8NB59 SYT14_HUMAN synaptotagmin XIV isoform 4 291 Cytoplasmic (Potential).|C2 1. integral to membrane ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.085) CCCAACATATAACAGGACAGG 0.443 32 133 --- --- --- --- PASS NVL 4931 broad.mit.edu 37 1 224473776 224473776 + Silent SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:224473776C>A uc001hok.2 - 15 1894 c.1851G>T c.(1849-1851)GGG>GGT p.G617G NVL_uc001hol.2_Silent_p.G511G|NVL_uc010pvd.1_Silent_p.G526G|NVL_uc010pve.1_Silent_p.G428G|NVL_uc010pvf.1_RNA NM_002533 NP_002524 O15381 NVL_HUMAN nuclear VCP-like isoform 1 617 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity skin(2) 2 GBM - Glioblastoma multiforme(131;0.00501) CAAGGAGGACCCCAGCTGGAG 0.453 33 98 --- --- --- --- PASS NVL 4931 broad.mit.edu 37 1 224475586 224475586 + Nonsense_Mutation SNP G C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:224475586G>C uc001hok.2 - 14 1728 c.1685C>G c.(1684-1686)TCA>TGA p.S562* NVL_uc001hol.2_Nonsense_Mutation_p.S456*|NVL_uc010pvd.1_Nonsense_Mutation_p.S471*|NVL_uc010pve.1_Nonsense_Mutation_p.S373*|NVL_uc010pvf.1_RNA NM_002533 NP_002524 O15381 NVL_HUMAN nuclear VCP-like isoform 1 562 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity skin(2) 2 GBM - Glioblastoma multiforme(131;0.00501) GGGTTGGACTGAGGATAGAGC 0.498 25 114 --- --- --- --- PASS WDR64 128025 broad.mit.edu 37 1 241912978 241912978 + Missense_Mutation SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:241912978A>T uc001hzf.1 + 8 1007 c.854A>T c.(853-855)CAG>CTG p.Q285L WDR64_uc001hzg.1_Missense_Mutation_p.Q31L NM_144625 NP_653226 B1ANS9 WDR64_HUMAN WD repeat domain 64 565 WD 8. skin(1) 1 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) AAACACCAGCAGCTGGTCCTG 0.522 52 92 --- --- --- --- PASS OR2B11 127623 broad.mit.edu 37 1 247614764 247614764 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:247614764C>A uc010pyx.1 - 1 521 c.521G>T c.(520-522)GGG>GTG p.G174V NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 174 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CACCTGCCGCCCGCAGAATGG 0.597 16 47 --- --- --- --- PASS OR2W5 441932 broad.mit.edu 37 1 247655105 247655105 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:247655105G>A uc001icz.1 + 1 676 c.676G>A c.(676-678)GCT>ACT p.A226T NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN olfactory receptor, family 2, subfamily W, 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CAGCCGCGGTGCTGAGGATGA 0.567 37 172 --- --- --- --- PASS OR2W5 441932 broad.mit.edu 37 1 247655166 247655166 + Missense_Mutation SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:247655166A>T uc001icz.1 + 1 737 c.737A>T c.(736-738)CAC>CTC p.H246L NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN olfactory receptor, family 2, subfamily W, 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TTCTCACCTCACAGTGGTCTC 0.542 35 173 --- --- --- --- PASS OR1C1 26188 broad.mit.edu 37 1 247920976 247920976 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:247920976G>T uc010pza.1 - 1 733 c.733C>A c.(733-735)CTG>ATG p.L245M NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 245 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) ACCACTGACAGGTGGCAGCTG 0.507 22 40 --- --- --- --- PASS OR2T4 127074 broad.mit.edu 37 1 248525461 248525461 + Silent SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr1:248525461C>A uc001ieh.1 + 1 579 c.579C>A c.(577-579)CCC>CCA p.P193P NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 193 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CATTCACTCCCATCACCATGA 0.517 81 314 --- --- --- --- PASS ASAP2 8853 broad.mit.edu 37 2 9474892 9474892 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:9474892G>T uc002qzh.2 + 8 1052 c.712G>T c.(712-714)GTG>TTG p.V238L ASAP2_uc002qzi.2_Missense_Mutation_p.V238L NM_003887 NP_003878 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 238 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding 0 ACTCAAAGCCGTGGAAAGCCT 0.393 33 98 --- --- --- --- PASS MYCN 4613 broad.mit.edu 37 2 16082411 16082411 + Silent SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:16082411G>T uc002rci.2 + 2 525 c.225G>T c.(223-225)CCG>CCT p.P75P MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.1_Silent_p.P67P NM_005378 NP_005369 P04198 MYCN_HUMAN v-myc myelocytomatosis viral related oncogene, 75 regulation of transcription from RNA polymerase II promoter chromatin|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(3;0.000332) CCGAGCCCCCGAGCTGGGTCA 0.711 A neuroblastoma 3 13 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21232599 21232599 + Silent SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:21232599G>A uc002red.2 - 26 7269 c.7141C>T c.(7141-7143)CTA>TTA p.L2381L NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2381 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ACTTGTTGTAGGACATTGCTT 0.323 16 69 --- --- --- --- PASS MTA3 57504 broad.mit.edu 37 2 42909590 42909590 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:42909590C>A uc002rso.1 + 10 1254 c.584C>A c.(583-585)GCC>GAC p.A195D MTA3_uc002rsp.1_Missense_Mutation_p.A195D|MTA3_uc002rsq.2_Missense_Mutation_p.A251D|MTA3_uc002rsr.2_Missense_Mutation_p.A251D NM_020744 NP_065795 Q9BTC8 MTA3_HUMAN metastasis associated 1 family, member 3 251 ELM2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 TTGAGCAGTGCCATTAGTGTC 0.398 5 26 --- --- --- --- PASS PRKCE 5581 broad.mit.edu 37 2 46228648 46228648 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:46228648C>T uc002rut.2 + 7 1126 c.929C>T c.(928-930)CCA>CTA p.P310L NM_005400 NP_005391 Q02156 KPCE_HUMAN protein kinase C, epsilon 310 activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1) 10 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) GGCGTTACCCCAGACAAAATC 0.522 24 85 --- --- --- --- PASS NRXN1 9378 broad.mit.edu 37 2 50463932 50463932 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:50463932G>T uc010fbp.2 - 2 1243 c.436C>A c.(436-438)CAT>AAT p.H146N NRXN1_uc002rxb.3_Missense_Mutation_p.H853N|NRXN1_uc010fbq.2_Missense_Mutation_p.H1221N|NRXN1_uc002rxe.3_Missense_Mutation_p.H1181N|NRXN1_uc002rxc.1_RNA NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 146 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding p.H146L(1) ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CTTACTATATGCAGTTCTAGG 0.398 17 83 --- --- --- --- PASS LRRTM4 80059 broad.mit.edu 37 2 77746492 77746492 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:77746492G>A uc002snr.2 - 3 918 c.503C>T c.(502-504)TCA>TTA p.S168L LRRTM4_uc002snq.2_Missense_Mutation_p.S168L|LRRTM4_uc002sns.2_Missense_Mutation_p.S168L|LRRTM4_uc002snt.2_Missense_Mutation_p.S169L NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 168 LRR 5.|Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) AGTCTTTAGTGAGTTAGATCT 0.403 20 124 --- --- --- --- PASS UXS1 80146 broad.mit.edu 37 2 106739541 106739541 + Missense_Mutation SNP T G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:106739541T>G uc002tdm.2 - 9 727 c.629A>C c.(628-630)GAA>GCA p.E210A UXS1_uc002tdl.2_Missense_Mutation_p.E42A|UXS1_uc002tdn.2_Missense_Mutation_p.E215A|UXS1_uc002tdo.2_Missense_Mutation_p.E153A|UXS1_uc010ywh.1_Missense_Mutation_p.E54A NM_025076 NP_079352 Q8NBZ7 UXS1_HUMAN UDP-glucuronate decarboxylase 1 210 Lumenal (Potential). cellular metabolic process Golgi cisterna membrane|integral to membrane coenzyme binding|UDP-glucuronate decarboxylase activity ovary(2) 2 AGGGTGGACTTCAGGATCTAC 0.443 31 148 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125204397 125204397 + Silent SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:125204397G>A uc002tno.2 + 6 1165 c.801G>A c.(799-801)CAG>CAA p.Q267Q CNTNAP5_uc010flu.2_Silent_p.Q267Q NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 267 Laminin G-like 1.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TGGATGACCAGCACTGGCACT 0.612 23 86 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125671718 125671718 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:125671718G>T uc002tno.2 + 24 4138 c.3774G>T c.(3772-3774)ATG>ATT p.M1258I CNTNAP5_uc010flu.2_Missense_Mutation_p.M1259I NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 1258 Helical; (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TCGGCATCATGACCCGGTTCC 0.453 34 198 --- --- --- --- PASS CYP27C1 339761 broad.mit.edu 37 2 127961052 127961052 + Missense_Mutation SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:127961052A>T uc002tod.2 - 2 205 c.74T>A c.(73-75)GTT>GAT p.V25D NM_001001665 NP_001001665 Q4G0S4 C27C1_HUMAN cytochrome P450, family 27, subfamily C, 25 membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.071) GTCAGCAATAACTTGGTTGAC 0.408 85 304 --- --- --- --- PASS NCKAP5 344148 broad.mit.edu 37 2 133542459 133542459 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:133542459G>A uc002ttp.2 - 14 2299 c.1925C>T c.(1924-1926)TCA>TTA p.S642L NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 642 protein binding 0 CCTAGTCTCTGAAGGGATGGG 0.443 22 140 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141108479 141108479 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:141108479C>A uc002tvj.1 - 77 12751 c.11779G>T c.(11779-11781)GAT>TAT p.D3927Y NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3927 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) TAATATACATCCATCCCTGTT 0.338 TSP Lung(27;0.18) 60 108 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152422331 152422331 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:152422331C>T uc010fnx.2 - 87 13248 c.13057G>A c.(13057-13059)GTC>ATC p.V4353I NEB_uc002txr.2_Missense_Mutation_p.V776I NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 4353 Nebulin 119. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) GCTCTGTAGACATTCTGAGAG 0.448 4 22 --- --- --- --- PASS FAP 2191 broad.mit.edu 37 2 163031404 163031404 + Missense_Mutation SNP C G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:163031404C>G uc002ucd.2 - 22 2150 c.1942G>C c.(1942-1944)GCT>CCT p.A648P FAP_uc010fpc.2_Missense_Mutation_p.A197P|FAP_uc010zct.1_Missense_Mutation_p.A623P|FAP_uc010fpd.2_Missense_Mutation_p.A127P NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 648 Extracellular (Potential). endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity ovary(3) 3 GAGACTGGAGCCACTGCTATA 0.403 22 104 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168104375 168104375 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:168104375G>A uc002udx.2 + 8 6491 c.6473G>A c.(6472-6474)AGC>AAC p.S2158N XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S1983N|XIRP2_uc010fpq.2_Missense_Mutation_p.S1936N|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Splice_Site NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1983 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GATACACAAAGCTCCAAGCCC 0.403 34 68 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179406233 179406233 + Missense_Mutation SNP T A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:179406233T>A uc010zfg.1 - 299 90091 c.89867A>T c.(89866-89868)GAG>GTG p.E29956V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E23651V|TTN_uc010zfi.1_Missense_Mutation_p.E23584V|TTN_uc010zfj.1_Missense_Mutation_p.E23459V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30883 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) ACCGTCATCCTCTGGTGGGTA 0.473 14 40 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179406234 179406234 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:179406234C>T uc010zfg.1 - 299 90090 c.89866G>A c.(89866-89868)GAG>AAG p.E29956K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E23651K|TTN_uc010zfi.1_Missense_Mutation_p.E23584K|TTN_uc010zfj.1_Missense_Mutation_p.E23459K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30883 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) CCGTCATCCTCTGGTGGGTAC 0.473 14 39 --- --- --- --- PASS ITGA4 3676 broad.mit.edu 37 2 182344882 182344882 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:182344882G>T uc002unu.2 + 6 1406 c.643G>T c.(643-645)GCC>TCC p.A215S ITGA4_uc010zfl.1_Missense_Mutation_p.A215S NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 215 FG-GAP 3.|Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TGTGATGGGGGCCCCAGGATC 0.338 41 58 --- --- --- --- PASS ZC3H15 55854 broad.mit.edu 37 2 187368899 187368899 + Silent SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:187368899G>A uc002upo.2 + 6 900 c.675G>A c.(673-675)GAG>GAA p.E225E NM_018471 NP_060941 Q8WU90 ZC3HF_HUMAN erythropoietin 4 immediate early response 225 Potential. cytoplasm|nucleolus|plasma membrane nucleic acid binding|zinc ion binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233) AGAAAGAAGAGAAAGAAGATG 0.363 33 154 --- --- --- --- PASS ZSWIM2 151112 broad.mit.edu 37 2 187702112 187702112 + Missense_Mutation SNP C G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:187702112C>G uc002upu.1 - 5 704 c.664G>C c.(664-666)GAA>CAA p.E222Q NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM domain containing 2 222 apoptosis zinc ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) CTCTCTTTTTCTGCTGCAGCT 0.388 32 199 --- --- --- --- PASS STK17B 9262 broad.mit.edu 37 2 197021277 197021277 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:197021277C>T uc002utk.2 - 3 545 c.221G>A c.(220-222)CGA>CAA p.R74Q STK17B_uc010fsh.2_Missense_Mutation_p.R74Q NM_004226 NP_004217 O94768 ST17B_HUMAN serine/threonine kinase 17B 74 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity lung(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.141) AATTTCTGCTCGACAATCCTG 0.358 7 221 --- --- --- --- PASS PGAP1 80055 broad.mit.edu 37 2 197757926 197757926 + Missense_Mutation SNP T C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:197757926T>C uc002utw.2 - 8 1085 c.971A>G c.(970-972)CAC>CGC p.H324R PGAP1_uc002utx.2_Missense_Mutation_p.H150R|PGAP1_uc002uty.1_Missense_Mutation_p.H324R|PGAP1_uc010zgv.1_RNA|PGAP1_uc010fsj.2_Missense_Mutation_p.H150R NM_024989 NP_079265 Q75T13 PGAP1_HUMAN GPI deacylase 324 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity ovary(3)|central_nervous_system(1) 4 TCTTATAAAGTGGTGATACAA 0.289 15 87 --- --- --- --- PASS NDUFS1 4719 broad.mit.edu 37 2 206988912 206988912 + Missense_Mutation SNP G C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:206988912G>C uc002vbe.2 - 19 2308 c.2181C>G c.(2179-2181)TGC>TGG p.C727W NDUFS1_uc010ziq.1_Missense_Mutation_p.C741W|NDUFS1_uc010zir.1_Missense_Mutation_p.C691W|NDUFS1_uc010zis.1_Missense_Mutation_p.C670W|NDUFS1_uc010zit.1_Missense_Mutation_p.C616W|NDUFS1_uc010ziu.1_Missense_Mutation_p.C611W NM_005006 NP_004997 P28331 NDUS1_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 1, 727 apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding ovary(1) 1 NADH(DB00157) AGAAGCTTCAGCATATGGATG 0.403 50 78 --- --- --- --- PASS ABCA12 26154 broad.mit.edu 37 2 215896613 215896613 + Silent SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:215896613G>A uc002vew.2 - 9 1213 c.993C>T c.(991-993)TCC>TCT p.S331S ABCA12_uc002vev.2_Silent_p.S13S|ABCA12_uc010zjn.1_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 331 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TTATATTATCGGAGTCACCTG 0.348 22 242 --- --- --- --- PASS INPP5D 3635 broad.mit.edu 37 2 233990506 233990506 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:233990506C>A uc010zmo.1 + 4 554 c.401C>A c.(400-402)ACT>AAT p.T134N INPP5D_uc010zmp.1_Missense_Mutation_p.T133N NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN SH2 containing inositol phosphatase isoform a 134 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding ovary(1)|central_nervous_system(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) ATCCCGCTGACTGCCAGCTCC 0.587 10 35 --- --- --- --- PASS UGT1A9 54600 broad.mit.edu 37 2 234580890 234580890 + Missense_Mutation SNP A C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:234580890A>C uc002vus.2 + 1 347 c.310A>C c.(310-312)AGT>CGT p.S104R UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Missense_Mutation_p.S104R NM_021027 NP_066307 O60656 UD19_HUMAN UDP glycosyltransferase 1 family, polypeptide A9 104 drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding ovary(3)|breast(1)|skin(1) 5 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398) ACAAGTACGAAGTATATATTC 0.348 44 178 --- --- --- --- PASS IQCA1 79781 broad.mit.edu 37 2 237246993 237246993 + Silent SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:237246993G>A uc002vvz.1 - 17 2171 c.1989C>T c.(1987-1989)CCC>CCT p.P663P IQCA1_uc002vwb.2_Silent_p.P671P|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Silent_p.P622P NM_024726 NP_079002 Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 663 ATP binding ovary(1) 1 TCAGGATTTGGGGAAGGTGTT 0.403 23 115 --- --- --- --- PASS HDAC4 9759 broad.mit.edu 37 2 240111549 240111549 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:240111549G>T uc002vyk.3 - 4 1111 c.319C>A c.(319-321)CAG>AAG p.Q107K HDAC4_uc010fyz.1_Missense_Mutation_p.Q102K|HDAC4_uc010zoa.1_Missense_Mutation_p.Q102K|HDAC4_uc010fza.2_Missense_Mutation_p.Q107K|HDAC4_uc002vyl.1_RNA|HDAC4_uc010fyy.2_Missense_Mutation_p.Q59K NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 107 Potential. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) TCGTGGAGCTGCGCCTCGTGC 0.687 14 31 --- --- --- --- PASS KIF1A 547 broad.mit.edu 37 2 241715339 241715339 + Missense_Mutation SNP T A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr2:241715339T>A uc002vzy.2 - 11 1033 c.887A>T c.(886-888)AAG>ATG p.K296M KIF1A_uc010fzk.2_Missense_Mutation_p.K296M|KIF1A_uc002vzz.1_Missense_Mutation_p.K296M NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 296 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CTTCTTTTTCTTGTTCTGTGG 0.562 10 52 --- --- --- --- PASS KLHL18 23276 broad.mit.edu 37 3 47374703 47374703 + Silent SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr3:47374703C>T uc003crd.2 + 5 783 c.657C>T c.(655-657)TAC>TAT p.Y219Y KLHL18_uc003crc.2_Silent_p.Y219Y|KLHL18_uc011bav.1_Silent_p.Y107Y|KLHL18_uc010hjq.1_Silent_p.Y70Y NM_025010 NP_079286 O94889 KLH18_HUMAN kelch-like 18 219 BACK. 0 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) GGGGTCCCTACCTGCCTGAGC 0.577 18 35 --- --- --- --- PASS MAPKAPK3 7867 broad.mit.edu 37 3 50677815 50677815 + Nonsense_Mutation SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr3:50677815A>T uc003day.1 + 5 834 c.238A>T c.(238-240)AAG>TAG p.K80* MAPKAPK3_uc003daz.1_Nonsense_Mutation_p.K80*|MAPKAPK3_uc003dba.1_Nonsense_Mutation_p.K80*|MAPKAPK3_uc010hlr.1_Nonsense_Mutation_p.K80* NM_004635 NP_004626 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated 80 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) TGACAGCCCCAAGGCCCGGCA 0.468 51 182 --- --- --- --- PASS RBM15B 29890 broad.mit.edu 37 3 51431014 51431014 + Missense_Mutation SNP G C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr3:51431014G>C uc003dbd.2 + 1 2284 c.2184G>C c.(2182-2184)TTG>TTC p.L728F NM_013286 NP_037418 Q8NDT2 RB15B_HUMAN RNA binding motif protein 15B 728 Interaction with Epstein-Barr virus BMLF1.|SPOC. interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleoplasm nucleotide binding|protein binding|RNA binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TTCTGGTGTTGAAAAACAGCT 0.522 79 76 --- --- --- --- PASS C3orf63 23272 broad.mit.edu 37 3 56680635 56680635 + Silent SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr3:56680635C>T uc003did.3 - 14 2231 c.2130G>A c.(2128-2130)TTG>TTA p.L710L C3orf63_uc003dic.3_Silent_p.L314L|C3orf63_uc003die.3_Silent_p.L710L NM_015224 NP_056039 Q9UK61 CC063_HUMAN retinoblastoma-associated protein 140 isoform b 710 ovary(3)|kidney(1)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147) GCTTCCTCTTCAAGACAGTTT 0.358 49 156 --- --- --- --- PASS OR5K1 26339 broad.mit.edu 37 3 98188809 98188809 + Missense_Mutation SNP T G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr3:98188809T>G uc003dsm.2 + 1 389 c.389T>G c.(388-390)CTG>CGG p.L130R NM_001004736 NP_001004736 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, 130 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1) 1 TGCAACCCACTGCAGTACCAC 0.468 58 427 --- --- --- --- PASS C3orf26 84319 broad.mit.edu 37 3 99895187 99895187 + Silent SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr3:99895187C>T uc003dtl.2 + 9 827 c.684C>T c.(682-684)AGC>AGT p.S228S NM_032359 NP_115735 Q9BQ75 CC026_HUMAN hypothetical protein LOC84319 228 ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(1) 1 TTAATTTGAGCCCCTTAAAAT 0.408 4 157 --- --- --- --- PASS IMPG2 50939 broad.mit.edu 37 3 100976537 100976537 + Missense_Mutation SNP G C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr3:100976537G>C uc003duq.1 - 10 1192 c.989C>G c.(988-990)TCC>TGC p.S330C IMPG2_uc011bhe.1_Missense_Mutation_p.S193C NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 330 Extracellular (Potential).|SEA 1. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 CACCTTGTTGGAGTGAAGGCT 0.433 64 300 --- --- --- --- PASS MORC1 27136 broad.mit.edu 37 3 108698408 108698408 + Missense_Mutation SNP T A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr3:108698408T>A uc003dxl.2 - 24 2518 c.2431A>T c.(2431-2433)AGC>TGC p.S811C MORC1_uc011bhn.1_Missense_Mutation_p.S790C NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 811 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 ACAGGTGTGCTTTGAGAAGAC 0.403 24 289 --- --- --- --- PASS ARHGAP31 57514 broad.mit.edu 37 3 119133513 119133513 + Missense_Mutation SNP T C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr3:119133513T>C uc003ecj.3 + 12 3269 c.2737T>C c.(2737-2739)TGG>CGG p.W913R NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 913 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 GGAACCCCAGTGGGTGACGAG 0.587 32 335 --- --- --- --- PASS ADCY5 111 broad.mit.edu 37 3 123036947 123036947 + Silent SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr3:123036947G>A uc003egh.1 - 11 2274 c.2274C>T c.(2272-2274)GAC>GAT p.D758D ADCY5_uc003egg.1_Silent_p.D391D|ADCY5_uc003egi.1_Silent_p.D317D NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 758 Cytoplasmic (Potential). activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) CAAATCGGTCGTCTACCTGCT 0.602 11 71 --- --- --- --- PASS ADCY5 111 broad.mit.edu 37 3 123049852 123049852 + Silent SNP A G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr3:123049852A>G uc003egh.1 - 5 1530 c.1530T>C c.(1528-1530)TGT>TGC p.C510C ADCY5_uc003egg.1_Silent_p.C143C|ADCY5_uc003egi.1_Silent_p.C69C NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 510 Guanylate cyclase 1.|Cytoplasmic (Potential). activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) TAATACGTAAACAGTGATTCT 0.453 17 87 --- --- --- --- PASS PODXL2 50512 broad.mit.edu 37 3 127379640 127379640 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr3:127379640G>T uc003ejq.2 + 3 793 c.769G>T c.(769-771)GAC>TAC p.D257Y NM_015720 NP_056535 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 precursor 257 Extracellular (Potential). leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding ovary(1)|central_nervous_system(1) 2 GACTCCGGGGGACCAGGACTC 0.637 27 78 --- --- --- --- PASS PLOD2 5352 broad.mit.edu 37 3 145806374 145806374 + Missense_Mutation SNP T A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr3:145806374T>A uc003evs.1 - 9 1510 c.1004A>T c.(1003-1005)AAA>ATA p.K335I PLOD2_uc003evq.1_5'Flank|PLOD2_uc011bnm.1_Missense_Mutation_p.K280I|PLOD2_uc003evr.1_Missense_Mutation_p.K335I NM_000935 NP_000926 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 335 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Vitamin C(DB00126) AATACTTACTTTGTTATGAAT 0.289 6 58 --- --- --- --- PASS ZIC1 7545 broad.mit.edu 37 3 147128108 147128108 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr3:147128108G>T uc003ewe.2 + 1 928 c.209G>T c.(208-210)GGC>GTC p.G70V NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 70 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CAGGCGCCAGGCTACGCGGCT 0.677 20 19 --- --- --- --- PASS ZIC1 7545 broad.mit.edu 37 3 147128132 147128132 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr3:147128132G>T uc003ewe.2 + 1 952 c.233G>T c.(232-234)GGC>GTC p.G78V NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 78 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GCGGCCCTGGGCCATCACCAT 0.687 10 31 --- --- --- --- PASS SMC4 10051 broad.mit.edu 37 3 160146715 160146715 + Missense_Mutation SNP T A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr3:160146715T>A uc003fdh.2 + 18 2893 c.2780T>A c.(2779-2781)ATC>AAC p.I927N IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.I902N|SMC4_uc003fdj.2_Missense_Mutation_p.I927N|SMC4_uc010hwd.2_Missense_Mutation_p.I927N|SMC4_uc003fdl.2_Missense_Mutation_p.I630N NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes 927 Potential. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity ovary(1)|breast(1) 2 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CAAGTAGCAATCAAGACTGCT 0.368 47 168 --- --- --- --- PASS SMC4 10051 broad.mit.edu 37 3 160146716 160146716 + Silent SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr3:160146716C>A uc003fdh.2 + 18 2894 c.2781C>A c.(2779-2781)ATC>ATA p.I927I IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Silent_p.I902I|SMC4_uc003fdj.2_Silent_p.I927I|SMC4_uc010hwd.2_Silent_p.I927I|SMC4_uc003fdl.2_Silent_p.I630I NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes 927 Potential. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity ovary(1)|breast(1) 2 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) AAGTAGCAATCAAGACTGCTG 0.368 46 169 --- --- --- --- PASS PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G A A rs121913273 TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr3:178936082G>A uc003fjk.2 + 10 1781 c.1624G>A c.(1624-1626)GAA>AAA p.E542K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 542 PI3K helical. E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333 E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 37 103 --- --- --- --- PASS USP13 8975 broad.mit.edu 37 3 179447977 179447977 + Silent SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr3:179447977G>T uc003fkh.2 + 9 1170 c.1089G>T c.(1087-1089)GCG>GCT p.A363A USP13_uc003fkf.2_Silent_p.A363A NM_003940 NP_003931 Q92995 UBP13_HUMAN ubiquitin thiolesterase 13 363 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(1) 1 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) CATTTTCTAGGTATGTAGGAA 0.363 56 270 --- --- --- --- PASS MAP3K13 9175 broad.mit.edu 37 3 185146681 185146681 + Silent SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr3:185146681G>T uc010hyf.2 + 3 578 c.312G>T c.(310-312)ACG>ACT p.T104T MAP3K13_uc011brt.1_Intron|MAP3K13_uc003fph.3_5'UTR|MAP3K13_uc011bru.1_Intron|MAP3K13_uc003fpi.2_Silent_p.T104T|MAP3K13_uc010hyg.2_5'UTR NM_004721 NP_004712 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 104 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding ovary(2)|skin(1) 3 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) ACAGCAACACGGTGGACGGAG 0.517 67 87 --- --- --- --- PASS TP63 8626 broad.mit.edu 37 3 189526287 189526287 + Missense_Mutation SNP C G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr3:189526287C>G uc003fry.2 + 4 640 c.551C>G c.(550-552)TCG>TGG p.S184W TP63_uc003frx.2_Missense_Mutation_p.S184W|TP63_uc003frz.2_Missense_Mutation_p.S184W|TP63_uc010hzc.1_Missense_Mutation_p.S184W|TP63_uc003fsa.2_Missense_Mutation_p.S90W|TP63_uc003fsb.2_Missense_Mutation_p.S90W|TP63_uc003fsc.2_Missense_Mutation_p.S90W|TP63_uc003fsd.2_Missense_Mutation_p.S90W|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Missense_Mutation_p.S65W NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 184 S -> L (in head and neck cancer). anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 12 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TTCCAGCAGTCGAGCACCGCC 0.627 Hay-Wells_syndrome HNSCC(45;0.13) 47 128 --- --- --- --- PASS EVC2 132884 broad.mit.edu 37 4 5630331 5630331 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr4:5630331C>A uc003gij.2 - 12 1895 c.1841G>T c.(1840-1842)AGC>ATC p.S614I EVC2_uc011bwb.1_Missense_Mutation_p.S54I|EVC2_uc003gik.2_Missense_Mutation_p.S534I NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 614 integral to membrane large_intestine(3)|ovary(2) 5 TGCAGCGGTGCTCAGAAGGCC 0.468 30 119 --- --- --- --- PASS BOD1L 259282 broad.mit.edu 37 4 13603309 13603309 + Missense_Mutation SNP A C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr4:13603309A>C uc003gmz.1 - 10 5332 c.5215T>G c.(5215-5217)TTT>GTT p.F1739V BOD1L_uc010idr.1_Missense_Mutation_p.F1076V NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1739 DNA binding ovary(5)|breast(1) 6 CAGATCACAAAGTTATCACTT 0.512 66 230 --- --- --- --- PASS CCKAR 886 broad.mit.edu 37 4 26483347 26483347 + Silent SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr4:26483347C>A uc003gse.1 - 5 1353 c.1200G>T c.(1198-1200)GTG>GTT p.V400V NM_000730 NP_000721 P32238 CCKAR_HUMAN cholecystokinin A receptor 400 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity lung(3)|pancreas(1) 4 Breast(46;0.0503) Ceruletide(DB00403) CCTCCTCCCCCACCTCTCCCC 0.627 30 106 --- --- --- --- PASS LIMCH1 22998 broad.mit.edu 37 4 41684398 41684398 + Missense_Mutation SNP T C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr4:41684398T>C uc003gvu.3 + 21 2668 c.2614T>C c.(2614-2616)TGG>CGG p.W872R LIMCH1_uc003gvv.3_Missense_Mutation_p.W872R|LIMCH1_uc003gvw.3_Missense_Mutation_p.W871R|LIMCH1_uc003gvx.3_Missense_Mutation_p.W884R|LIMCH1_uc003gwe.3_Missense_Mutation_p.W795R|LIMCH1_uc003gvy.3_Missense_Mutation_p.W700R|LIMCH1_uc003gwa.3_Missense_Mutation_p.W712R|LIMCH1_uc003gvz.3_Missense_Mutation_p.W1256R|LIMCH1_uc011byu.1_Missense_Mutation_p.W705R|LIMCH1_uc003gwc.3_Missense_Mutation_p.W717R|LIMCH1_uc003gwd.3_Missense_Mutation_p.W705R|LIMCH1_uc011byv.1_Missense_Mutation_p.W622R|LIMCH1_uc011byw.1_Missense_Mutation_p.W171R NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 isoform a 872 actomyosin structure organization actin binding|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 AGACAGAAGATGGAAGAAATC 0.388 19 39 --- --- --- --- PASS BEND4 389206 broad.mit.edu 37 4 42119669 42119669 + Missense_Mutation SNP C G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr4:42119669C>G uc003gwn.2 - 6 2051 c.1471G>C c.(1471-1473)GTC>CTC p.V491L BEND4_uc003gwm.2_3'UTR NM_207406 NP_997289 Q6ZU67 BEND4_HUMAN BEN domain containing 4 isoform a 491 BEN. 0 GCGTGACCGACAGCGTCGCTG 0.522 4 13 --- --- --- --- PASS FRYL 285527 broad.mit.edu 37 4 48514564 48514564 + Silent SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr4:48514564C>T uc003gyh.1 - 57 8684 c.8079G>A c.(8077-8079)CAG>CAA p.Q2693Q FRYL_uc003gyf.1_Silent_p.Q89Q|FRYL_uc003gyg.1_Silent_p.Q1389Q NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 2693 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 CAGACAGCATCTGATTGACGT 0.502 17 90 --- --- --- --- PASS TMPRSS11F 389208 broad.mit.edu 37 4 68938072 68938072 + Missense_Mutation SNP C G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr4:68938072C>G uc003hdt.1 - 5 532 c.483G>C c.(481-483)TTG>TTC p.L161F LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron NM_207407 NP_997290 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 161 SEA.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 TGTTTATGGTCAAAGACAATT 0.318 13 163 --- --- --- --- PASS UGT2B28 54490 broad.mit.edu 37 4 70155405 70155405 + Missense_Mutation SNP A G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr4:70155405A>G uc003hej.2 + 4 1027 c.1025A>G c.(1024-1026)AAT>AGT p.N342S UGT2B28_uc010ihr.2_Intron NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 342 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) TTTGATGGGAATAAACCAGAT 0.373 45 170 --- --- --- --- PASS ANKRD17 26057 broad.mit.edu 37 4 73957392 73957392 + Missense_Mutation SNP T C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr4:73957392T>C uc003hgp.2 - 29 6070 c.5953A>G c.(5953-5955)ACA>GCA p.T1985A ANKRD17_uc003hgo.2_Missense_Mutation_p.T1872A|ANKRD17_uc003hgq.2_Missense_Mutation_p.T1734A|ANKRD17_uc003hgr.2_Missense_Mutation_p.T1984A NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 1985 Ser-rich.|Thr-rich. interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CTGCCATTTGTAGATGTACCA 0.468 85 552 --- --- --- --- PASS ARHGAP24 83478 broad.mit.edu 37 4 86896082 86896082 + Silent SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr4:86896082G>T uc003hpk.2 + 7 1223 c.774G>T c.(772-774)GTG>GTT p.V258V ARHGAP24_uc003hpl.2_Silent_p.V163V|ARHGAP24_uc010ikf.2_Silent_p.V173V|ARHGAP24_uc003hpm.2_Silent_p.V165V NM_001025616 NP_001020787 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 isoform 1 258 Rho-GAP. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) GTTTGCCAGTGGTAAATTACA 0.313 28 76 --- --- --- --- PASS MTTP 4547 broad.mit.edu 37 4 100503108 100503108 + Silent SNP C G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr4:100503108C>G uc003hvc.3 + 3 364 c.108C>G c.(106-108)CTC>CTG p.L36L MTTP_uc011cej.1_Silent_p.L63L|MTTP_uc003hvb.2_Silent_p.L36L NM_000253 NP_000244 P55157 MTP_HUMAN microsomal triglyceride transfer protein large 36 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) TGTACAAGCTCACGTACTCCA 0.458 48 125 --- --- --- --- PASS TACR3 6870 broad.mit.edu 37 4 104640781 104640781 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr4:104640781C>T uc003hxe.1 - 1 195 c.52G>A c.(52-54)GGT>AGT p.G18S NM_001059 NP_001050 P29371 NK3R_HUMAN tachykinin receptor 3 18 Extracellular (Potential). integral to plasma membrane tachykinin receptor activity ovary(3)|lung(2)|breast(1)|skin(1) 7 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) GCGTCTGCACCCACGCCTCCA 0.687 10 24 --- --- --- --- PASS C4orf21 55345 broad.mit.edu 37 4 113540013 113540013 + Silent SNP A G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr4:113540013A>G uc003iau.2 - 6 1396 c.1185T>C c.(1183-1185)GAT>GAC p.D395D C4orf21_uc003iaw.2_Silent_p.D395D NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like Error:Variant_position_missing_in_Q6ZU11_after_alignment integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) TCCAGGATGGATCATTATTAC 0.333 42 134 --- --- --- --- PASS PCDH10 57575 broad.mit.edu 37 4 134073364 134073364 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr4:134073364G>T uc003iha.2 + 1 2895 c.2069G>T c.(2068-2070)GGG>GTG p.G690V PCDH10_uc003igz.2_Missense_Mutation_p.G690V NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 690 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) ggcgggggcgggagcggaggc 0.587 11 29 --- --- --- --- PASS PCDH10 57575 broad.mit.edu 37 4 134073527 134073527 + Silent SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr4:134073527G>A uc003iha.2 + 1 3058 c.2232G>A c.(2230-2232)AAG>AAA p.K744K PCDH10_uc003igz.2_Silent_p.K744K NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 744 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) AAAAAGAGAAGAAGCTCAACA 0.607 14 66 --- --- --- --- PASS SH3D19 152503 broad.mit.edu 37 4 152058934 152058934 + Missense_Mutation SNP T C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr4:152058934T>C uc010ipl.1 - 15 2696 c.1606A>G c.(1606-1608)AAC>GAC p.N536D SH3D19_uc003imb.2_Missense_Mutation_p.N291D|SH3D19_uc003imc.2_Missense_Mutation_p.N477D|SH3D19_uc003ime.2_Missense_Mutation_p.N513D|SH3D19_uc010ipm.2_Missense_Mutation_p.N513D NM_001009555 NP_001009555 Q5HYK7 SH319_HUMAN SH3 domain containing 19 isoform a 536 SH3 2. cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport cytosol|Golgi apparatus|nucleus|plasma membrane proline-rich region binding ovary(1)|skin(1) 2 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) TTTCTACAGTTCCCTCTGTAC 0.353 29 114 --- --- --- --- PASS GUCY1A3 2982 broad.mit.edu 37 4 156618161 156618161 + Missense_Mutation SNP C G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr4:156618161C>G uc003iov.2 + 4 678 c.142C>G c.(142-144)CAA>GAA p.Q48E GUCY1A3_uc003iou.2_Missense_Mutation_p.Q48E|GUCY1A3_uc010iqc.2_Missense_Mutation_p.Q48E|GUCY1A3_uc003iow.2_Missense_Mutation_p.Q48E|GUCY1A3_uc010iqd.2_Missense_Mutation_p.Q48E|GUCY1A3_uc003iox.2_Missense_Mutation_p.Q48E|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.Q48E|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.Q48E NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 48 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) GCCCATCTGTCAAGACATTCC 0.478 19 93 --- --- --- --- PASS GUCY1B3 2983 broad.mit.edu 37 4 156723541 156723541 + Missense_Mutation SNP A G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr4:156723541A>G uc003ipc.2 + 10 1390 c.1223A>G c.(1222-1224)CAC>CGC p.H408R GUCY1B3_uc011cio.1_Missense_Mutation_p.H430R|GUCY1B3_uc011cip.1_Missense_Mutation_p.H388R|GUCY1B3_uc003ipd.2_Missense_Mutation_p.H336R|GUCY1B3_uc010iqf.2_Intron|GUCY1B3_uc010iqg.2_Missense_Mutation_p.H379R|GUCY1B3_uc011ciq.1_Missense_Mutation_p.H336R NM_000857 NP_000848 Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 408 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) GAGCTGCGGCACAAGCGTCCA 0.478 14 58 --- --- --- --- PASS TRIML1 339976 broad.mit.edu 37 4 189065247 189065247 + Nonsense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr4:189065247C>A uc003izm.1 + 5 931 c.816C>A c.(814-816)TGC>TGA p.C272* TRIML1_uc003izn.1_5'UTR NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 272 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) TGAGTCTGTGCCGCATCACGG 0.537 3 39 --- --- --- --- PASS IRX1 79192 broad.mit.edu 37 5 3599690 3599690 + Missense_Mutation SNP A G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr5:3599690A>G uc003jde.2 + 2 680 c.628A>G c.(628-630)ACC>GCC p.T210A NM_024337 NP_077313 P78414 IRX1_HUMAN iroquois homeobox protein 1 210 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 CGGCAGCGACACCGAGGGCGA 0.627 30 50 --- --- --- --- PASS ADAMTS16 170690 broad.mit.edu 37 5 5186346 5186346 + Silent SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr5:5186346G>A uc003jdl.2 + 5 1083 c.945G>A c.(943-945)GTG>GTA p.V315V ADAMTS16_uc003jdk.1_Silent_p.V315V|ADAMTS16_uc003jdj.1_Silent_p.V315V NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 315 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.V315V(1) ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CCACCTACGTGCTCACGATAC 0.398 7 98 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19483410 19483410 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr5:19483410C>A uc003jgc.2 - 11 2259 c.1882G>T c.(1882-1884)GCA>TCA p.A628S CDH18_uc003jgd.2_Missense_Mutation_p.A628S|CDH18_uc011cnm.1_3'UTR NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 628 Helical; (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) AATGACTTACCCAGGAGAATG 0.458 15 92 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 21752313 21752313 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr5:21752313G>T uc010iuc.2 - 12 2376 c.1918C>A c.(1918-1920)CAG>AAG p.Q640K CDH12_uc011cno.1_Missense_Mutation_p.Q600K|CDH12_uc003jgk.2_Missense_Mutation_p.Q640K|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 640 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 TTTTTCTTCTGCCTTCGCAGT 0.413 HNSCC(59;0.17) 15 213 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24488107 24488107 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr5:24488107G>A uc003jgr.1 - 12 2364 c.2032C>T c.(2032-2034)CCT>TCT p.P678S CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 678 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) ATGGCTGCAGGATTCCTCAGG 0.483 HNSCC(23;0.051) 35 168 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24498605 24498605 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr5:24498605C>T uc003jgr.1 - 9 1749 c.1417G>A c.(1417-1419)GTG>ATG p.V473M CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 473 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) AAAACAGCCACGCGTGTTGTC 0.388 HNSCC(23;0.051) 19 196 --- --- --- --- PASS RAD1 5810 broad.mit.edu 37 5 34911720 34911720 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr5:34911720C>T uc003jix.2 - 4 834 c.505G>A c.(505-507)GAA>AAA p.E169K RAD1_uc003jiw.2_Missense_Mutation_p.E60K|RAD1_uc003jiy.2_Missense_Mutation_p.E169K NM_002853 NP_002844 O60671 RAD1_HUMAN RAD1 homolog 169 DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I nucleoplasm 3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding 0 all_lung(31;0.000107) Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) ATATCCAATTCAGAAAATGCT 0.418 Other_conserved_DNA_damage_response_genes 49 276 --- --- --- --- PASS IL7R 3575 broad.mit.edu 37 5 35876139 35876139 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr5:35876139G>A uc003jjs.2 + 8 1020 c.931G>A c.(931-933)GTG>ATG p.V311M IL7R_uc011cop.1_RNA NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 311 Cytoplasmic (Potential). immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity ovary(3)|breast(1)|skin(1) 5 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) GATTCATAGGGTGGATGACAT 0.433 99 75 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41064647 41064647 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr5:41064647C>A uc003jmj.3 - 5 877 c.387G>T c.(385-387)ATG>ATT p.M129I NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 129 binding ovary(6)|central_nervous_system(2) 8 GCAGGGTCATCATCATGAAAG 0.463 7 62 --- --- --- --- PASS C5orf34 375444 broad.mit.edu 37 5 43506461 43506461 + Silent SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr5:43506461G>A uc003jnz.1 - 5 638 c.321C>T c.(319-321)CCC>CCT p.P107P C5orf34_uc011cpx.1_5'UTR NM_198566 NP_940968 Q96MH7 CE034_HUMAN hypothetical protein LOC375444 107 breast(1) 1 Lung NSC(6;2.07e-05) TATCAAGACTGGGCCATCTCA 0.413 27 177 --- --- --- --- PASS NNT 23530 broad.mit.edu 37 5 43656767 43656767 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr5:43656767C>T uc003joe.2 + 16 2561 c.2306C>T c.(2305-2307)TCT>TTT p.S769F NNT_uc003jof.2_Missense_Mutation_p.S769F NM_012343 NP_036475 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 769 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding ovary(2)|central_nervous_system(1) 3 Lung NSC(6;2.58e-06) NADH(DB00157) CTCCTGAAATCTGCCCCTCTC 0.443 40 199 --- --- --- --- PASS CCNB1 891 broad.mit.edu 37 5 68473065 68473065 + Splice_Site SNP G C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr5:68473065G>C uc003jvm.2 + 8 1261 c.1084_splice c.e8-1 p.T362_splice CCNB1_uc011crd.1_Splice_Site_p.T362_splice|CCNB1_uc010ixb.2_Intron NM_031966 NP_114172 P14635 CCNB1_HUMAN cyclin B1 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole 0 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) TGTTGCCTTAGACACCAACTC 0.348 17 66 --- --- --- --- PASS FAM174A 345757 broad.mit.edu 37 5 99871237 99871237 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr5:99871237G>A uc003knj.1 + 1 123 c.3G>A c.(1-3)ATG>ATA p.M1I uc003kni.2_5'Flank NM_198507 NP_940909 Q8TBP5 F174A_HUMAN family with sequence similarity 174, member A 1 integral to membrane 0 CGGGAACGATGAAGGCCTCGC 0.657 23 101 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127686619 127686619 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr5:127686619G>T uc003kuu.2 - 21 3192 c.2753C>A c.(2752-2754)TCT>TAT p.S918Y FBN2_uc003kuv.2_Missense_Mutation_p.S885Y NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 918 TB 4. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) ACAGCATTCAGATTTCAGAGT 0.547 27 81 --- --- --- --- PASS SLC22A5 6584 broad.mit.edu 37 5 131726406 131726406 + Missense_Mutation SNP T G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr5:131726406T>G uc003kww.3 + 7 1341 c.1077T>G c.(1075-1077)TTT>TTG p.F359L SLC22A5_uc003kwx.3_Missense_Mutation_p.F383L|SLC22A5_uc010jdr.1_Intron NM_003060 NP_003051 O76082 S22A5_HUMAN solute carrier family 22 member 5 359 Helical; Name=7; (Potential). positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport apical plasma membrane|brush border membrane|integral to membrane ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity 0 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) TGGGCTATTTTGGGCTTTCGC 0.458 43 165 --- --- --- --- PASS PCDHA9 9752 broad.mit.edu 37 5 140228222 140228222 + Missense_Mutation SNP A G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr5:140228222A>G uc003lhu.2 + 1 866 c.142A>G c.(142-144)ATC>GTC p.I48V 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_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.I48V NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 48 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGGGCCGCATCGCGCAGGA 0.647 48 131 --- --- --- --- PASS PCDHB13 56123 broad.mit.edu 37 5 140594731 140594731 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr5:140594731C>A uc003lja.1 + 1 1223 c.1036C>A c.(1036-1038)CCA>ACA p.P346T NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 346 Cadherin 3.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGACCATGCCCCAGAAGTTAC 0.438 71 358 --- --- --- --- PASS PCDHGA1 56114 broad.mit.edu 37 5 140710502 140710502 + Missense_Mutation SNP T G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr5:140710502T>G uc003lji.1 + 1 251 c.251T>G c.(250-252)TTG>TGG p.L84W PCDHGA1_uc011dan.1_Missense_Mutation_p.L84W NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 84 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTGGCAGCTTGATCACCGCG 0.547 39 110 --- --- --- --- PASS PCDHGB6 56100 broad.mit.edu 37 5 140789170 140789170 + Silent SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr5:140789170A>T uc003lkj.1 + 1 1401 c.1401A>T c.(1399-1401)CCA>CCT p.P467P 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_uc003lki.1_Silent_p.P467P NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 467 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAACCCGCCAGGAGCCTCCA 0.587 10 40 --- --- --- --- PASS ARSI 340075 broad.mit.edu 37 5 149681648 149681648 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr5:149681648G>A uc003lrv.2 - 1 878 c.289C>T c.(289-291)CGG>TGG p.R97W NM_001012301 NP_001012301 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I precursor 97 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGCTGGCTCCGCGAAGGCGTG 0.577 3 11 --- --- --- --- PASS GABRA1 2554 broad.mit.edu 37 5 161281237 161281237 + Silent SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr5:161281237C>T uc010jiw.2 + 4 616 c.148C>T c.(148-150)CTA>TTA p.L50L GABRA1_uc010jix.2_Silent_p.L50L|GABRA1_uc010jiy.2_Silent_p.L50L|GABRA1_uc003lyx.3_Silent_p.L50L|GABRA1_uc010jiz.2_Silent_p.L50L|GABRA1_uc010jja.2_Silent_p.L50L|GABRA1_uc010jjb.2_Silent_p.L50L NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 50 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 Renal(175;0.00259) 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;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) GGACAGACTCCTAGATGGTTA 0.378 19 73 --- --- --- --- PASS CPEB4 80315 broad.mit.edu 37 5 173317235 173317235 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr5:173317235G>T uc003mcs.3 + 1 1905 c.499G>T c.(499-501)GGT>TGT p.G167C CPEB4_uc010jju.1_Missense_Mutation_p.G167C|CPEB4_uc010jjv.2_Missense_Mutation_p.G167C|CPEB4_uc011dfg.1_Missense_Mutation_p.G167C|CPEB4_uc003mct.3_5'Flank|CPEB4_uc003mcu.3_5'Flank NM_030627 NP_085130 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding 167 nucleotide binding|RNA binding 0 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GTCTCTTACTGGTTTCAGTAA 0.493 37 133 --- --- --- --- PASS PDLIM7 9260 broad.mit.edu 37 5 176915221 176915221 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr5:176915221C>A uc003mhc.1 - 10 983 c.898G>T c.(898-900)GCG>TCG p.A300S PDLIM7_uc003mha.1_Missense_Mutation_p.A194S|PDLIM7_uc003mhb.1_Missense_Mutation_p.A266S|PDLIM7_uc003mhd.1_Missense_Mutation_p.A152S|PDLIM7_uc003mhe.1_RNA|PDLIM7_uc003mhf.2_Missense_Mutation_p.R279L NM_005451 NP_005442 Q9NR12 PDLI7_HUMAN PDZ and LIM domain 7 isoform 1 300 LIM zinc-binding 1. cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis cytoplasm|focal adhesion protein binding|zinc ion binding breast(1) 1 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGGTGGTACGCGTGGCCCAGC 0.642 3 98 --- --- --- --- PASS NKAPL 222698 broad.mit.edu 37 6 28228142 28228142 + Silent SNP C A A rs140336392 by1000genomes TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr6:28228142C>A uc003nkt.2 + 1 1045 c.993C>A c.(991-993)ATC>ATA p.I331I ZKSCAN4_uc011dlb.1_5'Flank NM_001007531 NP_001007532 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 331 upper_aerodigestive_tract(1)|ovary(1) 2 GTGAAGAGATCGGTTCTTTTG 0.483 80 136 --- --- --- --- PASS TNXB 7148 broad.mit.edu 37 6 32036344 32036344 + Missense_Mutation SNP C G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr6:32036344C>G uc003nzl.2 - 17 6245 c.6043G>C c.(6043-6045)GAC>CAC p.D2015H NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2097 Fibronectin type-III 13. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 AGGAAGTGGTCAAACTGTCCC 0.647 8 96 --- --- --- --- PASS TNXB 7148 broad.mit.edu 37 6 32036704 32036704 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr6:32036704C>A uc003nzl.2 - 16 5999 c.5797G>T c.(5797-5799)GAC>TAC p.D1933Y NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2015 Fibronectin type-III 12. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 AGGGTGATGTCATTCCGGTCA 0.532 32 261 --- --- --- --- PASS BRPF3 27154 broad.mit.edu 37 6 36182091 36182091 + Missense_Mutation SNP C T T rs148223802 byFrequency TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr6:36182091C>T uc003olv.3 + 8 3141 c.2917C>T c.(2917-2919)CGG>TGG p.R973W BRPF3_uc010jwb.2_Intron|BRPF3_uc011dtj.1_Intron|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Intron NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 973 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding ovary(1)|skin(1) 2 GCGCCACTCCCGGAAGCGGCC 0.617 16 76 --- --- --- --- PASS ABCC10 89845 broad.mit.edu 37 6 43415558 43415558 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr6:43415558G>A uc003ouy.1 + 18 4057 c.3842G>A c.(3841-3843)CGC>CAC p.R1281H ABCC10_uc003ouz.1_Missense_Mutation_p.R1253H|ABCC10_uc010jyo.1_Missense_Mutation_p.R387H NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 1281 ABC transporter 2.|ATP 2 (Potential). integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) ATCGTGGGCCGCACAGGCTCC 0.642 5 265 --- --- --- --- PASS TFAP2D 83741 broad.mit.edu 37 6 50682991 50682991 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr6:50682991C>A uc003paf.2 + 2 714 c.202C>A c.(202-204)CCG>ACG p.P68T TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 68 DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) CCAGTACACCCCGCTCCACCA 0.572 26 112 --- --- --- --- PASS KLHL31 401265 broad.mit.edu 37 6 53519386 53519386 + Missense_Mutation SNP A C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr6:53519386A>C uc003pcb.3 - 2 826 c.685T>G c.(685-687)TCT>GCT p.S229A NM_001003760 NP_001003760 Q9H511 KLH31_HUMAN kelch repeat and BTB (POZ) domain containing 1 229 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent ovary(1) 1 Lung NSC(77;0.0158) ACTATCTCAGAAGGCAACTGT 0.348 42 179 --- --- --- --- PASS COL21A1 81578 broad.mit.edu 37 6 55922602 55922602 + Silent SNP T A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr6:55922602T>A uc003pcs.2 - 30 2959 c.2727A>T c.(2725-2727)CCA>CCT p.P909P COL21A1_uc010jzz.2_Silent_p.P294P|COL21A1_uc011dxg.1_Silent_p.P282P|COL21A1_uc011dxh.1_Silent_p.P260P|COL21A1_uc003pcr.2_Silent_p.P266P NM_030820 NP_110447 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 precursor 909 cell adhesion collagen|cytoplasm structural molecule activity ovary(2) 2 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CTGGGTCTCCTGGAGGACCTT 0.498 13 17 --- --- --- --- PASS RIMS1 22999 broad.mit.edu 37 6 72974742 72974742 + Missense_Mutation SNP T C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr6:72974742T>C uc003pga.2 + 20 3258 c.3181T>C c.(3181-3183)TGG>CGG p.W1061R RIMS1_uc011dyb.1_Intron|RIMS1_uc003pgc.2_Intron|RIMS1_uc010kaq.2_Intron|RIMS1_uc011dyc.1_Intron|RIMS1_uc010kar.2_Intron|RIMS1_uc011dyd.1_Intron|RIMS1_uc003pgf.2_Intron|RIMS1_uc003pgg.2_Intron|RIMS1_uc003pgi.2_Intron|RIMS1_uc003pgh.2_Intron|RIMS1_uc003pgd.2_Missense_Mutation_p.W278R|RIMS1_uc003pge.2_Intron|RIMS1_uc011dye.1_Intron|RIMS1_uc011dyf.1_Intron|RIMS1_uc010kas.1_Intron NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1061 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) CAGTTCTCACTGGAATATTTA 0.383 10 18 --- --- --- --- PASS HTR1B 3351 broad.mit.edu 37 6 78172433 78172433 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr6:78172433G>A uc003pil.1 - 1 688 c.688C>T c.(688-690)CGC>TGC p.R230C NM_000863 NP_000854 P28222 5HT1B_HUMAN 5-hydroxytryptamine (serotonin) receptor 1B 230 Cytoplasmic (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission integral to plasma membrane protein binding|serotonin receptor activity 0 all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332) BRCA - Breast invasive adenocarcinoma(397;0.205) Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315) ACGTAGATGCGGCCATAGAGG 0.607 22 96 --- --- --- --- PASS GJA10 84694 broad.mit.edu 37 6 90605323 90605323 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr6:90605323C>T uc011eaa.1 + 1 1136 c.1136C>T c.(1135-1137)CCA>CTA p.P379L NM_032602 NP_115991 Q969M2 CXA10_HUMAN gap junction protein, alpha 10 379 Cytoplasmic (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) AGAAACTGTCCATCCTTTGCA 0.522 70 93 --- --- --- --- PASS FRK 2444 broad.mit.edu 37 6 116289811 116289811 + Silent SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr6:116289811C>T uc003pwi.1 - 3 1005 c.558G>A c.(556-558)CTG>CTA p.L186L NM_002031 NP_002022 P42685 FRK_HUMAN fyn-related kinase 186 SH2. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|lung(3) 6 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) CAAATTCGTTCAGTGTTGAAA 0.418 125 165 --- --- --- --- PASS FAM184A 79632 broad.mit.edu 37 6 119301350 119301350 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr6:119301350C>T uc003pyj.2 - 10 2602 c.2254G>A c.(2254-2256)GTC>ATC p.V752I FAM184A_uc003pyk.3_Missense_Mutation_p.V632I|FAM184A_uc003pyl.3_Missense_Mutation_p.V632I NM_024581 NP_078857 Q8NB25 F184A_HUMAN hypothetical protein LOC79632 isoform 1 752 Potential. ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1) 7 AATGCAAGGACATGTGCTTCT 0.393 50 101 --- --- --- --- PASS TAAR8 83551 broad.mit.edu 37 6 132874072 132874072 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr6:132874072G>T uc011ecj.1 + 1 241 c.241G>T c.(241-243)GGT>TGT p.G81C NM_053278 NP_444508 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 81 Helical; Name=2; (Potential). plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) CTTCTTGGTAGGTGTGACTGT 0.448 114 142 --- --- --- --- PASS BCLAF1 9774 broad.mit.edu 37 6 136597033 136597033 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr6:136597033G>A uc003qgx.1 - 5 1883 c.1630C>T c.(1630-1632)CGT>TGT p.R544C BCLAF1_uc003qgw.1_Missense_Mutation_p.R371C|BCLAF1_uc003qgy.1_Missense_Mutation_p.R542C|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R542C NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 544 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) ACTTCAGGACGGTGAGAATCA 0.428 50 526 --- --- --- --- PASS GRM1 2911 broad.mit.edu 37 6 146480698 146480698 + Silent SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr6:146480698C>A uc010khw.1 + 3 1385 c.915C>A c.(913-915)CGC>CGA p.R305R GRM1_uc010khu.1_Silent_p.R305R|GRM1_uc010khv.1_Silent_p.R305R|GRM1_uc003qll.2_Silent_p.R305R|GRM1_uc011edz.1_Silent_p.R305R|GRM1_uc011eea.1_Silent_p.R305R NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 305 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCATGCGGCGCCTTGGCGTCG 0.413 12 56 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152472788 152472788 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr6:152472788C>T uc010kiw.2 - 135 24952 c.24350G>A c.(24349-24351)CGG>CAG p.R8117Q SYNE1_uc010kiv.2_Missense_Mutation_p.R2641Q|SYNE1_uc003qos.3_Missense_Mutation_p.R2641Q|SYNE1_uc003qot.3_Missense_Mutation_p.R8046Q|SYNE1_uc003qou.3_Missense_Mutation_p.R8117Q|SYNE1_uc003qop.3_Missense_Mutation_p.R279Q|SYNE1_uc011eez.1_Missense_Mutation_p.R319Q|SYNE1_uc003qoq.3_Missense_Mutation_p.R319Q|SYNE1_uc003qor.3_Missense_Mutation_p.R1017Q NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8117 Spectrin 30.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AATGCTGTCCCGCGCAGTCTC 0.403 HNSCC(10;0.0054) 15 42 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152485394 152485394 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr6:152485394C>A uc010kiw.2 - 131 24296 c.23694G>T c.(23692-23694)AGG>AGT p.R7898S SYNE1_uc010kiv.2_Missense_Mutation_p.R2422S|SYNE1_uc003qos.3_Missense_Mutation_p.R2422S|SYNE1_uc003qot.3_Missense_Mutation_p.R7827S|SYNE1_uc003qou.3_Missense_Mutation_p.R7898S|SYNE1_uc003qop.3_Missense_Mutation_p.R60S|SYNE1_uc011eez.1_Missense_Mutation_p.R100S|SYNE1_uc003qoq.3_Missense_Mutation_p.R100S|SYNE1_uc003qor.3_Missense_Mutation_p.R798S NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7898 Spectrin 28.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CGAGCCAGGTCCTCAGGCTGC 0.522 HNSCC(10;0.0054) 31 89 --- --- --- --- PASS RSPH3 83861 broad.mit.edu 37 6 159420467 159420467 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr6:159420467G>T uc003qrx.2 - 1 732 c.542C>A c.(541-543)CCA>CAA p.P181Q RSPH3_uc010kju.2_Missense_Mutation_p.P181Q|RSPH3_uc003qry.1_Missense_Mutation_p.P181Q NM_031924 NP_114130 Q86UC2 RSPH3_HUMAN radial spoke 3 homolog 181 ovary(1)|skin(1) 2 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06) GGTCACTCACGGCTGCGTCAG 0.662 8 28 --- --- --- --- PASS FAM120B 84498 broad.mit.edu 37 6 170627121 170627121 + Missense_Mutation SNP C G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr6:170627121C>G uc003qxp.2 + 2 751 c.643C>G c.(643-645)CTG>GTG p.L215V FAM120B_uc003qxo.1_Missense_Mutation_p.L215V|FAM120B_uc011ehd.1_Intron NM_032448 NP_115824 Q96EK7 F120B_HUMAN family with sequence similarity 120B 215 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding ovary(1) 1 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) CTGTGAGAGTCTGGGCCTCTG 0.502 36 127 --- --- --- --- PASS LFNG 3955 broad.mit.edu 37 7 2565317 2565317 + Splice_Site SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr7:2565317A>T uc003smf.2 + 5 753 c.736_splice c.e5-2 p.R246_splice LFNG_uc003smg.2_Splice_Site_p.R246_splice NM_001040167 NP_001035257 Q8NES3 LFNG_HUMAN lunatic fringe isoform a organ morphogenesis extracellular region|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.54e-14) CCCTTCTCCCAGCGTCCTGTC 0.692 9 22 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21751446 21751446 + Silent SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr7:21751446G>A uc003svc.2 + 43 7003 c.6972G>A c.(6970-6972)CTG>CTA p.L2324L NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2324 AAA 2 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CTGGTATTCTGTATGTGAACC 0.358 Kartagener_syndrome 19 31 --- --- --- --- PASS ADCYAP1R1 117 broad.mit.edu 37 7 31124364 31124364 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr7:31124364C>A uc003tca.1 + 8 674 c.451C>A c.(451-453)CTG>ATG p.L151M ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.L130M|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.L151M|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.L151M|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.L151M|ADCYAP1R1_uc003tcf.1_5'Flank NM_001118 NP_001109 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 151 Extracellular (Potential). activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity ovary(1) 1 TTATTACTACCTGTCAGTGAA 0.582 17 117 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 7 38279757 38279757 + Silent SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr7:38279757C>A uc003tfu.3 - 5 487 c.252G>T c.(250-252)CTG>CTT p.L84L uc003tfv.2_Silent_p.L84L SubName: Full=TARP protein; TGAGCTGCAGCAGTAGTGTAT 0.398 9 16 --- --- --- --- PASS TARP 445347 broad.mit.edu 37 7 38299821 38299821 + Silent SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr7:38299821C>A uc003tge.1 - 7 1193 c.816G>T c.(814-816)CTG>CTT p.L272L uc003tfx.1_5'Flank|uc003tfz.1_Intron|TARP_uc003tgb.2_Silent_p.L68L|TARP_uc003tgc.1_Silent_p.L68L|TARP_uc003tgd.1_Silent_p.L68L A2JGV3 A2JGV3_HUMAN Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds. Error:Variant_position_missing_in_A2JGV3_after_alignment 0 TGAGCTGCAGCAGTAGTGTAT 0.398 17 70 --- --- --- --- PASS VPS41 27072 broad.mit.edu 37 7 38807137 38807137 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr7:38807137C>T uc003tgy.2 - 15 1273 c.1247G>A c.(1246-1248)CGC>CAC p.R416H VPS41_uc003tgz.2_Missense_Mutation_p.R391H|VPS41_uc010kxn.2_Missense_Mutation_p.R327H NM_014396 NP_055211 P49754 VPS41_HUMAN vacuolar protein sorting 41 isoform 1 416 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 TCATCATTACCGTGCTGCTAT 0.323 16 90 --- --- --- --- PASS ZNF479 90827 broad.mit.edu 37 7 57194369 57194369 + Silent SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr7:57194369G>A uc010kzo.2 - 3 367 c.96C>T c.(94-96)TGC>TGT p.C32C NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 32 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) CACAATCCAGGCATTGCCATT 0.413 61 137 --- --- --- --- PASS PHTF2 57157 broad.mit.edu 37 7 77567025 77567025 + Splice_Site SNP A G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr7:77567025A>G uc003ugs.3 + 12 1465 c.1339_splice c.e12-2 p.S447_splice PHTF2_uc003ugp.2_Splice_Site_p.S409_splice|PHTF2_uc003ugq.3_Splice_Site_p.S409_splice|PHTF2_uc010ldv.2_Splice_Site_p.S409_splice|PHTF2_uc003ugt.3_Splice_Site_p.S413_splice|PHTF2_uc003ugu.3_Splice_Site_p.S409_splice|PHTF2_uc003ugv.2_Splice_Site_p.S272_splice|PHTF2_uc010ldw.1_Intron NM_001127357 NP_001120829 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding ovary(1) 1 ttttttttataGAGTCATTTG 0.259 7 15 --- --- --- --- PASS PON3 5446 broad.mit.edu 37 7 94992098 94992098 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr7:94992098C>T uc003unt.2 - 7 776 c.751G>A c.(751-753)GAT>AAT p.D251N PON1_uc011kih.1_Intron NM_000940 NP_000931 Q15166 PON3_HUMAN paraoxonase 3 251 aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus extracellular space aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity ovary(1) 1 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) TCCCAGTTATCATGTTTTTCC 0.408 5 128 --- --- --- --- PASS ASB4 51666 broad.mit.edu 37 7 95157272 95157272 + Missense_Mutation SNP T C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr7:95157272T>C uc011kij.1 + 3 635 c.635T>C c.(634-636)CTG>CCG p.L212P ASB4_uc003unx.2_Missense_Mutation_p.L212P NM_016116 NP_057200 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box-containing protein 4 212 ANK 5. intracellular signal transduction central_nervous_system(1) 1 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) GAGACCCCCCTGGCCATCGCC 0.622 OREG0018172 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 60 --- --- --- --- PASS SLC12A9 56996 broad.mit.edu 37 7 100451837 100451837 + Silent SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr7:100451837A>T uc003uwp.2 + 2 160 c.18A>T c.(16-18)TCA>TCT p.S6S SLC12A9_uc003uwo.1_Silent_p.S6S|SLC12A9_uc003uwq.2_Silent_p.S6S|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'Flank|SLC12A9_uc003uws.2_5'Flank|SLC12A9_uc003uwt.2_5'Flank NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN solute carrier family 12 (potassium/chloride 6 Cytoplasmic (Potential). integral to membrane|plasma membrane cation:chloride symporter activity 0 Lung NSC(181;0.041)|all_lung(186;0.0581) GCGAGAGCTCACCTCTGCTGG 0.627 30 52 --- --- --- --- PASS TFEC 22797 broad.mit.edu 37 7 115590929 115590929 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr7:115590929G>T uc003vhj.1 - 6 698 c.514C>A c.(514-516)CCT>ACT p.P172T TFEC_uc003vhk.1_Missense_Mutation_p.P143T|TFEC_uc003vhl.3_Missense_Mutation_p.P143T|TFEC_uc011kmw.1_Missense_Mutation_p.P262T NM_012252 NP_036384 O14948 TFEC_HUMAN transcription factor EC isoform a 172 Helix-loop-helix motif. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity large_intestine(1) 1 STAD - Stomach adenocarcinoma(10;0.00878) TGAACTCACGGATCATTAGAC 0.328 12 185 --- --- --- --- PASS SLC13A1 6561 broad.mit.edu 37 7 122787311 122787311 + Missense_Mutation SNP T A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr7:122787311T>A uc003vkm.2 - 7 739 c.714A>T c.(712-714)AAA>AAT p.K238N SLC13A1_uc010lks.2_Missense_Mutation_p.K114N NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate 238 integral to membrane|plasma membrane sodium:sulfate symporter activity ovary(2) 2 Succinic acid(DB00139) AACACGTAAGTTTACGTGTCA 0.408 39 41 --- --- --- --- PASS GRM8 2918 broad.mit.edu 37 7 126173615 126173615 + Silent SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr7:126173615G>A uc003vlr.2 - 8 2132 c.1821C>T c.(1819-1821)CGC>CGT p.R607R GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.R607R|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 607 Helical; Name=1; (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) TGTCATTATAGCGGACAAAGG 0.458 HNSCC(24;0.065) 11 52 --- --- --- --- PASS EPHB6 2051 broad.mit.edu 37 7 142567636 142567636 + Missense_Mutation SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr7:142567636A>T uc011kst.1 + 17 3311 c.2524A>T c.(2524-2526)AGT>TGT p.S842C EPHB6_uc011ksu.1_Missense_Mutation_p.S842C|EPHB6_uc003wbs.2_Missense_Mutation_p.S550C|EPHB6_uc003wbt.2_Missense_Mutation_p.S316C|EPHB6_uc003wbu.2_Missense_Mutation_p.S550C|EPHB6_uc003wbv.2_Missense_Mutation_p.S226C NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 842 Cytoplasmic (Potential).|Protein kinase. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) TACAACATCCAGTGATGTCTG 0.488 20 65 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 146536904 146536904 + Missense_Mutation SNP T A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr7:146536904T>A uc003weu.1 + 3 826 c.310T>A c.(310-312)TAT>AAT p.Y104N NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 104 F5/8 type C.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CCAAGGAAGGTATAGCAGCTC 0.498 HNSCC(39;0.1) 14 85 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151970857 151970857 + Silent SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr7:151970857G>A uc003wla.2 - 7 1164 c.945C>T c.(943-945)GGC>GGT p.G315G NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 315 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CCTGAAAGGTGCCGGCTCCTG 0.428 N medulloblastoma 13 444 --- --- --- --- PASS LZTS1 11178 broad.mit.edu 37 8 20107455 20107455 + Silent SNP C G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr8:20107455C>G uc003wzr.2 - 3 1680 c.1569G>C c.(1567-1569)TCG>TCC p.S523S LZTS1_uc010ltg.1_Intron NM_021020 NP_066300 Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 523 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) GCTGGAAGCCCGAGGACATCT 0.652 16 63 --- --- --- --- PASS LZTS1 11178 broad.mit.edu 37 8 20107456 20107456 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr8:20107456G>A uc003wzr.2 - 3 1679 c.1568C>T c.(1567-1569)TCG>TTG p.S523L LZTS1_uc010ltg.1_Intron NM_021020 NP_066300 Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 523 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) CTGGAAGCCCGAGGACATCTG 0.657 16 63 --- --- --- --- PASS UNC5D 137970 broad.mit.edu 37 8 35425673 35425673 + Missense_Mutation SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr8:35425673A>T uc003xjr.1 + 3 708 c.380A>T c.(379-381)CAT>CTT p.H127L UNC5D_uc003xjs.1_Missense_Mutation_p.H122L NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 127 Extracellular (Potential).|Ig-like. apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GAGGACTTCCATGGGCCCGAG 0.532 74 238 --- --- --- --- PASS LSM1 27257 broad.mit.edu 37 8 38027393 38027393 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr8:38027393C>T uc003xkw.2 - 3 346 c.158G>A c.(157-159)GGC>GAC p.G53D LSM1_uc003xkx.2_RNA NM_014462 NP_055277 O15116 LSM1_HUMAN Lsm1 protein 53 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|mRNA processing|RNA splicing, via transesterification reactions cytosol|nucleus|ribonucleoprotein complex protein binding|RNA binding 0 Colorectal(12;0.000442) GTATTTTTTGCCCACATGAAT 0.393 5 306 --- --- --- --- PASS WHSC1L1 54904 broad.mit.edu 37 8 38162108 38162108 + Nonsense_Mutation SNP T A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr8:38162108T>A uc003xli.2 - 14 3126 c.2608A>T c.(2608-2610)AGA>TGA p.R870* WHSC1L1_uc011lbm.1_Nonsense_Mutation_p.R870*|WHSC1L1_uc010lwe.2_Nonsense_Mutation_p.R870* NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN WHSC1L1 protein isoform long 870 PHD-type 3. cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding breast(1) 1 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) CACTCACCTCTGGCACAAACG 0.303 T NUP98 AML 58 161 --- --- --- --- PASS PLEKHA2 59339 broad.mit.edu 37 8 38808484 38808484 + Silent SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr8:38808484G>T uc003xmi.3 + 6 696 c.462G>T c.(460-462)GTG>GTT p.V154V PLEKHA2_uc011lce.1_Silent_p.V104V NM_021623 NP_067636 Q9HB19 PKHA2_HUMAN pleckstrin homology domain containing, family A 154 positive regulation of cell-matrix adhesion cytoplasm|nucleus|plasma membrane|protein complex fibronectin binding|laminin binding 0 all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235) TTGGAGGGGTGGTGGTCCACA 0.612 6 24 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52320664 52320664 + Missense_Mutation SNP C G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr8:52320664C>G uc003xqu.3 - 17 3621 c.3520G>C c.(3520-3522)GAA>CAA p.E1174Q PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1174 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TCTTTAATTTCATTTTGAAGA 0.358 20 110 --- --- --- --- PASS CLVS1 157807 broad.mit.edu 37 8 62212690 62212690 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr8:62212690C>A uc003xuh.2 + 2 628 c.304C>A c.(304-306)CAG>AAG p.Q102K CLVS1_uc003xug.2_Missense_Mutation_p.Q102K|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Missense_Mutation_p.Q102K NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN retinaldehyde binding protein 1-like 1 102 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity skin(4)|ovary(1) 5 CCAGTACCGCCAGCTAAACCT 0.507 18 128 --- --- --- --- PASS CLVS1 157807 broad.mit.edu 37 8 62366774 62366774 + Silent SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr8:62366774C>T uc003xuh.2 + 4 1029 c.705C>T c.(703-705)CTC>CTT p.L235L CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Silent_p.L235L NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN retinaldehyde binding protein 1-like 1 235 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity skin(4)|ovary(1) 5 TCTACACACTCATCAAGCCAT 0.428 48 406 --- --- --- --- PASS CPA6 57094 broad.mit.edu 37 8 68397018 68397018 + Missense_Mutation SNP G C C rs34326072 TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr8:68397018G>C uc003xxq.3 - 7 899 c.643C>G c.(643-645)CTA>GTA p.L215V CPA6_uc003xxr.3_Missense_Mutation_p.L67V|CPA6_uc003xxs.2_Missense_Mutation_p.L215V NM_020361 NP_065094 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 isoform 1 precursor 215 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) TTATATGTTAGAAGAGCCTAA 0.353 24 158 --- --- --- --- PASS SLCO5A1 81796 broad.mit.edu 37 8 70594546 70594546 + Missense_Mutation SNP G C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr8:70594546G>C uc003xyl.2 - 7 2362 c.1655C>G c.(1654-1656)ACA>AGA p.T552R SLCO5A1_uc010lzb.2_Missense_Mutation_p.T497R|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.T552R NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 552 Extracellular (Potential).|Kazal-like. integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GCAGCTTCCTGTCAGATTCCT 0.423 29 242 --- --- --- --- PASS LRRCC1 85444 broad.mit.edu 37 8 86027432 86027432 + Silent SNP A G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr8:86027432A>G uc003ycw.2 + 5 796 c.642A>G c.(640-642)TCA>TCG p.S214S LRRCC1_uc010lzz.1_Intron|LRRCC1_uc010maa.1_Intron|LRRCC1_uc003ycx.2_Silent_p.S121S|LRRCC1_uc003ycy.2_Silent_p.S194S NM_033402 NP_208325 Q9C099 LRCC1_HUMAN sodium channel associated protein 2 isoform a 214 LRRCT. cell division|mitosis centriole|nucleus 0 AAATAAATTCATCACAGCTGC 0.348 161 141 --- --- --- --- PASS CDH17 1015 broad.mit.edu 37 8 95164230 95164230 + Silent SNP C A A rs149027046 byFrequency TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr8:95164230C>A uc003ygh.2 - 13 1787 c.1662G>T c.(1660-1662)ACG>ACT p.T554T CDH17_uc011lgo.1_Silent_p.T340T|CDH17_uc011lgp.1_Silent_p.T554T NM_004063 NP_004054 Q12864 CAD17_HUMAN cadherin 17 precursor 554 Extracellular (Potential).|Cadherin 5. integral to membrane calcium ion binding ovary(5)|skin(1) 6 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) TCACAATAAGCGTGAACTTGG 0.423 41 213 --- --- --- --- PASS RIMS2 9699 broad.mit.edu 37 8 104709460 104709460 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr8:104709460G>T uc003ylp.2 + 2 462 c.323G>T c.(322-324)TGT>TTT p.C108F NM_001100117 NP_001093587 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 139 FYVE-type.|RabBD. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GGCCATAACTGTTCATATTGC 0.428 HNSCC(12;0.0054) 146 121 --- --- --- --- PASS KCNV1 27012 broad.mit.edu 37 8 110984732 110984732 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr8:110984732C>T uc003ynr.3 - 2 1088 c.746G>A c.(745-747)TGC>TAC p.C249Y KCNV1_uc010mcw.2_Missense_Mutation_p.C249Y NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 249 Helical; Name=Segment S2; (Potential). voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity lung(1)|kidney(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) CCAGCTAATGCACACATACTC 0.527 38 66 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113657357 113657357 + Silent SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr8:113657357A>T uc003ynu.2 - 20 3450 c.3291T>A c.(3289-3291)GTT>GTA p.V1097V CSMD3_uc003yns.2_Silent_p.V369V|CSMD3_uc003ynt.2_Silent_p.V1057V|CSMD3_uc011lhx.1_Silent_p.V993V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1097 Extracellular (Potential).|CUB 6. 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 GGGTTACATCAACAGTCCATG 0.363 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 37 95 --- --- --- --- PASS ENPP2 5168 broad.mit.edu 37 8 120628618 120628618 + Missense_Mutation SNP A G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr8:120628618A>G uc003yot.1 - 8 750 c.664T>C c.(664-666)TAT>CAT p.Y222H ENPP2_uc003yos.1_Missense_Mutation_p.Y222H|ENPP2_uc010mdd.1_Missense_Mutation_p.Y222H NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 222 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GATTCTGGATATAGCCCCTTT 0.318 89 48 --- --- --- --- PASS MTSS1 9788 broad.mit.edu 37 8 125570011 125570011 + Missense_Mutation SNP G A A rs150097928 byFrequency TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr8:125570011G>A uc003yrk.2 - 11 1675 c.1141C>T c.(1141-1143)CGG>TGG p.R381W NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_5'Flank|MTSS1_uc011lin.1_Missense_Mutation_p.R155W|MTSS1_uc011lio.1_Missense_Mutation_p.R271W|MTSS1_uc003yri.2_Intron|MTSS1_uc003yrj.2_Intron|MTSS1_uc003yrl.2_Missense_Mutation_p.R385W NM_014751 NP_055566 O43312 MTSS1_HUMAN metastasis suppressor 1 381 actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding ovary(1) 1 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) GAGGTGACCCGAGGGAGCAGG 0.552 4 21 --- --- --- --- PASS CYP11B1 1584 broad.mit.edu 37 8 143961099 143961099 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr8:143961099C>T uc003yxi.2 - 1 138 c.131G>A c.(130-132)CGT>CAT p.R44H CYP11B1_uc003yxj.2_Missense_Mutation_p.R44H|CYP11B1_uc010mey.2_Missense_Mutation_p.R44H NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 44 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GTTGCCTGGACGCCGGGGCAT 0.647 Familial_Hyperaldosteronism_type_I 17 128 --- --- --- --- PASS PLEC 5339 broad.mit.edu 37 8 145003943 145003943 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr8:145003943G>A uc003zaf.1 - 23 3375 c.3205C>T c.(3205-3207)CAC>TAC p.H1069Y PLEC_uc003zab.1_Missense_Mutation_p.H932Y|PLEC_uc003zac.1_Missense_Mutation_p.H936Y|PLEC_uc003zad.2_Missense_Mutation_p.H932Y|PLEC_uc003zae.1_Missense_Mutation_p.H900Y|PLEC_uc003zag.1_Missense_Mutation_p.H910Y|PLEC_uc003zah.2_Missense_Mutation_p.H918Y|PLEC_uc003zaj.2_Missense_Mutation_p.H959Y NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 1069 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GCCTGGTAGTGCAGCTCCAGG 0.706 3 23 --- --- --- --- PASS NFKBIL2 4796 broad.mit.edu 37 8 145661285 145661285 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr8:145661285C>T uc011llg.1 - 17 2546 c.2531G>A c.(2530-2532)CGC>CAC p.R844H uc011llh.1_Intron NM_013432 NP_038460 Q96HA7 TONSL_HUMAN NF-kappa-B inhibitor-like protein 2 844 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity 0 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) ccggcggcTGCGGGTCAGGGG 0.617 11 28 --- --- --- --- PASS CDKN2A 1029 broad.mit.edu 37 9 21971186 21971186 + Nonsense_Mutation SNP G A A rs121913387 TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr9:21971186G>A uc003zpk.2 - 2 384 c.172C>T c.(172-174)CGA>TGA p.R58* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P113L NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 58 ANK 2. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.R58*(68)|p.?(14)|p.M53_R58del(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*89(1)|p.R58R(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.R58fs*61(1)|p.R58fs*62(1)|p.G55fs*86(1)|p.R58Q(1)|p.P113L(1)|p.A57fs*85(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCCGCCACTCGGGCGCTGCCC 0.677 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 3 2 --- --- --- --- PASS CDKN2B 1030 broad.mit.edu 37 9 22006222 22006222 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr9:22006222C>T uc003zpo.2 - 2 541 c.181G>A c.(181-183)GTG>ATG p.V61M MTAP_uc003zpi.1_Intron|CDKN2BAS_uc010miw.1_Intron|CDKN2BAS_uc010mix.1_Intron|CDKN2BAS_uc003zpm.2_Intron|CDKN2B_uc003zpn.2_3'UTR NM_004936 NP_004927 P42772 CDN2B_HUMAN cyclin-dependent kinase inhibitor 2B isoform 1 61 ANK 2. cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding lung(1) 1 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143) AGCTCCGCCACGCGGGCGCTG 0.692 Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System 7 18 --- --- --- --- PASS C9orf72 203228 broad.mit.edu 37 9 27558492 27558492 + Silent SNP T G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr9:27558492T>G uc003zqq.2 - 7 949 c.852A>C c.(850-852)CTA>CTC p.L284L NM_018325 NP_060795 Q96LT7 CI072_HUMAN hypothetical protein LOC203228 isoform a 284 ovary(3)|central_nervous_system(1) 4 all_neural(11;7.57e-10) LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016) ACTATACCTTTAGCAGGCCTT 0.338 6 81 --- --- --- --- PASS C9orf72 203228 broad.mit.edu 37 9 27558493 27558493 + Missense_Mutation SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr9:27558493A>T uc003zqq.2 - 7 948 c.851T>A c.(850-852)CTA>CAA p.L284Q NM_018325 NP_060795 Q96LT7 CI072_HUMAN hypothetical protein LOC203228 isoform a 284 ovary(3)|central_nervous_system(1) 4 all_neural(11;7.57e-10) LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016) CTATACCTTTAGCAGGCCTTG 0.333 6 81 --- --- --- --- PASS C9orf72 203228 broad.mit.edu 37 9 27558494 27558494 + Silent SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr9:27558494G>A uc003zqq.2 - 7 947 c.850C>T c.(850-852)CTA>TTA p.L284L NM_018325 NP_060795 Q96LT7 CI072_HUMAN hypothetical protein LOC203228 isoform a 284 ovary(3)|central_nervous_system(1) 4 all_neural(11;7.57e-10) LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016) TATACCTTTAGCAGGCCTTGT 0.333 5 81 --- --- --- --- PASS CNTNAP3 79937 broad.mit.edu 37 9 39149959 39149959 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr9:39149959C>A uc004abi.2 - 10 1732 c.1493G>T c.(1492-1494)AGC>ATC p.S498I CNTNAP3_uc004abj.2_Missense_Mutation_p.S498I|CNTNAP3_uc011lqr.1_Intron|CNTNAP3_uc004abk.1_Missense_Mutation_p.S498I|CNTNAP3_uc011lqs.1_Intron|CNTNAP3_uc004abl.1_Intron NM_033655 NP_387504 Q9BZ76 CNTP3_HUMAN cell recognition molecule CASPR3 precursor 498 Extracellular (Potential).|Laminin G-like 2. 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) AGAGCCAGAGCTGTTGTCCAG 0.463 18 54 --- --- --- --- PASS TRPM3 80036 broad.mit.edu 37 9 73151520 73151520 + Silent SNP C G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr9:73151520C>G uc004aid.2 - 25 4717 c.4473G>C c.(4471-4473)CCG>CCC p.P1491P TRPM3_uc004ahu.2_Silent_p.P1333P|TRPM3_uc004ahv.2_Silent_p.P1293P|TRPM3_uc004ahw.2_Silent_p.P1363P|TRPM3_uc004ahx.2_Silent_p.P1350P|TRPM3_uc004ahy.2_Silent_p.P1353P|TRPM3_uc004ahz.2_Silent_p.P1340P|TRPM3_uc004aia.2_Silent_p.P1338P|TRPM3_uc004aib.2_Silent_p.P1328P|TRPM3_uc004aic.2_Intron NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 1516 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 TGTGGTACATCGGAGGCTCTG 0.483 41 45 --- --- --- --- PASS GDA 9615 broad.mit.edu 37 9 74856098 74856098 + Missense_Mutation SNP T C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr9:74856098T>C uc004aiq.2 + 11 1202 c.1019T>C c.(1018-1020)CTT>CCT p.L340P GDA_uc011lse.1_Missense_Mutation_p.L266P|GDA_uc011lsf.1_Missense_Mutation_p.L266P|GDA_uc004air.2_Missense_Mutation_p.L340P|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.L262P NM_004293 NP_004284 Q9Y2T3 GUAD_HUMAN guanine deaminase 340 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) TATTCCATGCTTGATGCAATC 0.358 43 76 --- --- --- --- PASS TEX10 54881 broad.mit.edu 37 9 103070787 103070787 + Missense_Mutation SNP T A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr9:103070787T>A uc004bas.2 - 13 2675 c.2460A>T c.(2458-2460)AGA>AGT p.R820S TEX10_uc011lvf.1_Missense_Mutation_p.R659S|TEX10_uc011lvg.1_Missense_Mutation_p.R823S NM_017746 NP_060216 Q9NXF1 TEX10_HUMAN testis expressed 10 isoform 1 820 integral to membrane|MLL1 complex|nuclear membrane|nucleolus binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) ATTACCTCTTTCTTAGATGTT 0.348 41 36 --- --- --- --- PASS GRIN3A 116443 broad.mit.edu 37 9 104432782 104432782 + Silent SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr9:104432782G>T uc004bbp.1 - 3 2513 c.1912C>A c.(1912-1914)CGG>AGG p.R638R GRIN3A_uc004bbq.1_Silent_p.R638R NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 638 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) ACCTGGCTCCGTGCAGTATTG 0.532 28 92 --- --- --- --- PASS TLR4 7099 broad.mit.edu 37 9 120476318 120476318 + Missense_Mutation SNP G C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr9:120476318G>C uc004bjz.2 + 3 2203 c.1912G>C c.(1912-1914)GTC>CTC p.V638L TLR4_uc004bka.2_Missense_Mutation_p.V598L|TLR4_uc004bkb.2_Missense_Mutation_p.V438L NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 638 Helical; (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 TGGTGTGTCGGTCCTCAGTGT 0.438 15 54 --- --- --- --- PASS REXO4 57109 broad.mit.edu 37 9 136272165 136272165 + Missense_Mutation SNP T G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr9:136272165T>G uc004cdm.2 - 8 1381 c.1181A>C c.(1180-1182)TAC>TCC p.Y394S REXO4_uc011mde.1_Missense_Mutation_p.Y257S|REXO4_uc011mdf.1_Missense_Mutation_p.Y257S|REXO4_uc004cdn.2_Missense_Mutation_p.Y145S|REXO4_uc004cdo.2_Missense_Mutation_p.Y222S NM_020385 NP_065118 Q9GZR2 REXO4_HUMAN XPMC2 prevents mitotic catastrophe 2 homolog 394 Exonuclease. nucleolus exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05) CACCATGACGTACAGCCTCAT 0.597 OREG0019587 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 48 --- --- --- --- PASS REXO4 57109 broad.mit.edu 37 9 136272167 136272167 + Silent SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr9:136272167C>A uc004cdm.2 - 8 1379 c.1179G>T c.(1177-1179)CTG>CTT p.L393L REXO4_uc011mde.1_Silent_p.L256L|REXO4_uc011mdf.1_Silent_p.L256L|REXO4_uc004cdn.2_Silent_p.L144L|REXO4_uc004cdo.2_Silent_p.L221L NM_020385 NP_065118 Q9GZR2 REXO4_HUMAN XPMC2 prevents mitotic catastrophe 2 homolog 393 Exonuclease. nucleolus exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05) CCATGACGTACAGCCTCATTG 0.597 OREG0019587 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 47 --- --- --- --- PASS COL5A1 1289 broad.mit.edu 37 9 137717708 137717708 + Silent SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr9:137717708C>T uc004cfe.2 + 63 5407 c.5025C>T c.(5023-5025)GCC>GCT p.A1675A uc004cff.2_Intron NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 1675 Fibrillar collagen NC1. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) ACTTCACAGCCGGGGGGTCGA 0.592 31 39 --- --- --- --- PASS ITIH5 80760 broad.mit.edu 37 10 7618475 7618475 + Nonsense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr10:7618475G>T uc001ijq.2 - 10 1998 c.1919C>A c.(1918-1920)TCG>TAG p.S640* ITIH5_uc001ijp.2_Nonsense_Mutation_p.S426*|ITIH5_uc001ijr.1_Nonsense_Mutation_p.S640* NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 640 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 CATGGCAGCCGACATGCCGTG 0.692 13 29 --- --- --- --- PASS MCM10 55388 broad.mit.edu 37 10 13240736 13240736 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr10:13240736G>T uc001ima.2 + 16 2271 c.2170G>T c.(2170-2172)GCC>TCC p.A724S MCM10_uc001imb.2_Missense_Mutation_p.A723S|MCM10_uc001imc.2_Missense_Mutation_p.A723S NM_182751 NP_877428 Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 724 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 AGAACAACTTGCCTATCTGGA 0.433 28 109 --- --- --- --- PASS C10orf67 256815 broad.mit.edu 37 10 23622061 23622061 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr10:23622061G>A uc010qcx.1 - 2 326 c.260C>T c.(259-261)GCC>GTC p.A87V NM_153714 NP_714925 Q8IYJ2 CJ067_HUMAN hypothetical protein LOC256815 87 0 AGTTTGAGTGGCATGGTCTGT 0.333 4 89 --- --- --- --- PASS ARMC4 55130 broad.mit.edu 37 10 28233361 28233361 + Splice_Site SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr10:28233361C>A uc009xky.2 - 12 1632 c.1534_splice c.e12-1 p.I512_splice ARMC4_uc010qds.1_Splice_Site_p.I37_splice|ARMC4_uc010qdt.1_Splice_Site_p.I204_splice|ARMC4_uc001itz.2_Splice_Site_p.I512_splice|ARMC4_uc010qdu.1_Splice_Site_p.I204_splice NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 binding ovary(4)|skin(2) 6 ATGAACCAATCTGTGTGAGAA 0.338 31 98 --- --- --- --- PASS ITGB1 3688 broad.mit.edu 37 10 33200848 33200848 + Silent SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr10:33200848G>A uc001iws.3 - 12 1810 c.1674C>T c.(1672-1674)TTC>TTT p.F558F ITGB1_uc001iwp.3_Silent_p.F558F|ITGB1_uc001iwq.3_Silent_p.F558F|ITGB1_uc001iwr.3_Silent_p.F558F|ITGB1_uc001iwt.3_Silent_p.F558F|ITGB1_uc001iwu.1_Silent_p.F558F NM_133376 NP_596867 P05556 ITB1_HUMAN integrin beta 1 isoform 1A precursor 558 Extracellular (Potential).|Cysteine-rich tandem repeats.|II. 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) TATCACAGTTGAAATTATCAC 0.403 66 310 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37451602 37451602 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr10:37451602C>A uc001iza.1 + 16 1857 c.1758C>A c.(1756-1758)TTC>TTA p.F586L NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 642 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 CATCTGCCTTCGAGGTATTTA 0.328 35 207 --- --- --- --- PASS ZNF25 219749 broad.mit.edu 37 10 38241620 38241620 + Missense_Mutation SNP T A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr10:38241620T>A uc001ize.1 - 6 911 c.806A>T c.(805-807)CAG>CTG p.Q269L ZNF25_uc001izf.1_Missense_Mutation_p.Q233L NM_145011 NP_659448 P17030 ZNF25_HUMAN zinc finger protein 25 269 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157) GTGTGACTTCTGGGAAAAGGC 0.443 40 156 --- --- --- --- PASS CSTF2T 23283 broad.mit.edu 37 10 53458538 53458538 + Missense_Mutation SNP T C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr10:53458538T>C uc001jjp.2 - 1 818 c.772A>G c.(772-774)ATC>GTC p.I258V PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron NM_015235 NP_056050 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 258 mRNA processing nucleus nucleotide binding|RNA binding ovary(1) 1 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) CCACCCTGGATAGGAGTCTGC 0.547 12 78 --- --- --- --- PASS DKK1 22943 broad.mit.edu 37 10 54074314 54074314 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr10:54074314C>A uc001jjr.2 + 1 274 c.120C>A c.(118-120)AAC>AAA p.N40K uc001jjq.1_5'Flank|uc009xox.1_5'Flank NM_012242 NP_036374 O94907 DKK1_HUMAN dickkopf homolog 1 precursor 40 negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization extracellular space|plasma membrane growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity ovary(1)|lung(1)|kidney(1) 3 TCAATTCCAACGCTATCAAGA 0.672 OREG0020191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 104 --- --- --- --- PASS TFAM 7019 broad.mit.edu 37 10 60148479 60148479 + Missense_Mutation SNP T G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr10:60148479T>G uc001jkf.2 + 4 473 c.341T>G c.(340-342)ATA>AGA p.I114R TFAM_uc001jkg.2_RNA|TFAM_uc001jkh.2_Missense_Mutation_p.I114R NM_003201 NP_003192 Q00059 TFAM_HUMAN transcription factor A, mitochondrial precursor 114 HMG box 1. DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter mitochondrial nucleoid mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity 0 AAAGAAGAGATAAGCAGATTT 0.318 27 144 --- --- --- --- PASS DNA2 1763 broad.mit.edu 37 10 70178815 70178815 + Silent SNP A G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr10:70178815A>G uc001jof.2 - 19 3201 c.3201T>C c.(3199-3201)TTT>TTC p.F1067F DNA2_uc001jog.1_Silent_p.F743F|DNA2_uc001joh.1_RNA NM_001080449 NP_001073918 P51530 DNA2L_HUMAN DNA replication helicase 2 homolog 981 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base 0 TACTTCTAACAAAAGATACTA 0.323 23 138 --- --- --- --- PASS TET1 80312 broad.mit.edu 37 10 70406034 70406034 + Missense_Mutation SNP A G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr10:70406034A>G uc001jok.3 + 4 4053 c.3548A>G c.(3547-3549)TAT>TGT p.Y1183C NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 1183 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 TCCTATATGTATGGCACAATA 0.388 41 161 --- --- --- --- PASS C10orf28 27291 broad.mit.edu 37 10 99995216 99995216 + Silent SNP G C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr10:99995216G>C uc001kow.3 + 7 2362 c.2067G>C c.(2065-2067)GTG>GTC p.V689V C10orf28_uc001kox.3_Silent_p.V703V|C10orf28_uc001koy.3_Silent_p.V689V|C10orf28_uc009xvx.2_Silent_p.V689V|C10orf28_uc009xvy.2_Silent_p.V95V|C10orf28_uc001koz.3_RNA NM_014472 NP_055287 Q4KMY3 Q4KMY3_HUMAN growth inhibition and differentiation related 689 nucleotide binding large_intestine(1)|skin(1) 2 Colorectal(252;0.234) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09) ACACCATGGTGAAGATTCGTC 0.448 17 61 --- --- --- --- PASS HPSE2 60495 broad.mit.edu 37 10 100249878 100249878 + Missense_Mutation SNP G C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr10:100249878G>C uc001kpn.1 - 10 1456 c.1396C>G c.(1396-1398)CGG>GGG p.R466G HPSE2_uc009xwc.1_Missense_Mutation_p.R456G|HPSE2_uc001kpo.1_Missense_Mutation_p.R398G|HPSE2_uc009xwd.1_Missense_Mutation_p.R344G NM_021828 NP_068600 Q8WWQ2 HPSE2_HUMAN heparanase 2 466 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity ovary(1) 1 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) CGTGGCTTCCGCTGGAGCCCA 0.562 17 86 --- --- --- --- PASS GBF1 8729 broad.mit.edu 37 10 104129061 104129061 + Missense_Mutation SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr10:104129061A>T uc001kux.1 + 24 3304 c.3064A>T c.(3064-3066)ATC>TTC p.I1022F GBF1_uc001kuy.1_Missense_Mutation_p.I1022F|GBF1_uc001kuz.1_Missense_Mutation_p.I1023F NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 1022 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) TCATGGTGACATCCTGCGGGA 0.498 34 152 --- --- --- --- PASS SUFU 51684 broad.mit.edu 37 10 104353466 104353466 + Missense_Mutation SNP G A A rs144005604 by1000genomes TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr10:104353466G>A uc001kvy.1 + 5 817 c.671G>A c.(670-672)CGG>CAG p.R224Q SUFU_uc001kvw.1_Missense_Mutation_p.R224Q|SUFU_uc001kvx.2_Missense_Mutation_p.R224Q|SUFU_uc009xxe.1_5'Flank|SUFU_uc009xxf.1_5'Flank NM_016169 NP_057253 Q9UMX1 SUFU_HUMAN suppressor of fused 224 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding central_nervous_system(4)|skin(2)|breast(1) 7 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) GAGCTGCTGCGGACAGTGCCT 0.627 D|F|S medulloblastoma medulloblastoma Medulloblastoma_associated_with_Germline_SUFU_Mutation 5 62 --- --- --- --- PASS NRAP 4892 broad.mit.edu 37 10 115392842 115392842 + Splice_Site SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr10:115392842C>A uc001laj.2 - 16 1796 c.1632_splice c.e16+1 p.E544_splice NRAP_uc001lak.2_Splice_Site_p.E509_splice|NRAP_uc001lal.3_Splice_Site_p.E544_splice NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TGCTCTCTTACCTCACTGAAG 0.473 45 73 --- --- --- --- PASS VAX1 11023 broad.mit.edu 37 10 118895983 118895983 + Silent SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr10:118895983C>T uc009xyx.2 - 2 674 c.429G>A c.(427-429)CAG>CAA p.Q143Q VAX1_uc001ldb.1_Silent_p.Q143Q NM_001112704 NP_001106175 Q5SQQ9 VAX1_HUMAN ventral anterior homeobox 1 isoform a 143 Homeobox. nucleus sequence-specific DNA binding ovary(2) 2 all cancers(201;0.0108) CGCCGGGTACCTGGGTCTCGG 0.637 4 35 --- --- --- --- PASS TACC2 10579 broad.mit.edu 37 10 123845054 123845054 + Silent SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr10:123845054G>A uc001lfv.2 + 4 3399 c.3039G>A c.(3037-3039)AGG>AGA p.R1013R TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.R1013R|TACC2_uc010qtv.1_Silent_p.R1013R NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 1013 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CATGTCAAAGGCATCCAGGAG 0.547 14 46 --- --- --- --- PASS C10orf88 80007 broad.mit.edu 37 10 124708171 124708171 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr10:124708171C>A uc001lgw.2 - 4 867 c.642G>T c.(640-642)CAG>CAT p.Q214H C10orf88_uc001lgx.2_Missense_Mutation_p.Q116H NM_024942 NP_079218 Q9H8K7 CJ088_HUMAN hypothetical protein LOC80007 214 0 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735) TTACCCGCTGCTGACACCTAA 0.378 37 95 --- --- --- --- PASS GPR123 84435 broad.mit.edu 37 10 134912152 134912152 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr10:134912152G>T uc001llx.3 + 4 576 c.140G>T c.(139-141)CGC>CTC p.R47L GPR123_uc001llw.2_Missense_Mutation_p.R767L NM_001083909 NP_001077378 Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 47 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) AGCGCCATCCGCATCAGCCGC 0.662 33 50 --- --- --- --- PASS PNPLA2 57104 broad.mit.edu 37 11 822507 822507 + Silent SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr11:822507C>A uc001lrt.2 + 5 799 c.597C>A c.(595-597)TCC>TCA p.S199S PNPLA2_uc009ycl.2_5'Flank NM_020376 NP_065109 Q96AD5 PLPL2_HUMAN patatin-like phospholipase domain containing 2 199 Lumenal (Potential). negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process integral to membrane|lipid particle|plasma membrane triglyceride lipase activity 0 all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGGACAGCTCCACCAACATCC 0.592 27 111 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1263975 1263975 + Silent SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr11:1263975C>T uc009ycr.1 + 47 8070 c.7944C>T c.(7942-7944)CCC>CCT p.P2648P MUC5B_uc001ltb.2_Silent_p.P1958P NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 1955 7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) AAGCCACTCCCTCCTCCAGTC 0.642 22 64 --- --- --- --- PASS OR52K1 390036 broad.mit.edu 37 11 4510214 4510214 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr11:4510214G>T uc001lza.1 + 1 84 c.84G>T c.(82-84)TGG>TGT p.W28C NM_001005171 NP_001005171 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, 28 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) TGCATGCCTGGATCTCCATCC 0.498 65 205 --- --- --- --- PASS OR51E2 81285 broad.mit.edu 37 11 4703143 4703143 + Missense_Mutation SNP G C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr11:4703143G>C uc001lzk.2 - 2 1043 c.799C>G c.(799-801)CTT>GTT p.L267V NM_030774 NP_110401 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, 267 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(3)|ovary(2) 5 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) ATGGGATGAAGGCTGTTTCCA 0.507 20 70 --- --- --- --- PASS OR52E2 119678 broad.mit.edu 37 11 5080646 5080646 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr11:5080646G>A uc010qyw.1 - 1 212 c.212C>T c.(211-213)ACT>ATT p.T71I NM_001005164 NP_001005164 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, 71 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) ACCCACATCAGTGGTGGCCAA 0.488 13 30 --- --- --- --- PASS OR52A4 390053 broad.mit.edu 37 11 5142411 5142411 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr11:5142411G>T uc001lzz.1 - 1 398 c.398C>A c.(397-399)CCT>CAT p.P133H OR52A4_uc001maa.2_RNA NM_001005222 NP_001005222 olfactory receptor, family 52, subfamily A, ovary(2) 2 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) ACGCCTCAGAGGATAACAGAT 0.483 19 50 --- --- --- --- PASS HPX 3263 broad.mit.edu 37 11 6462155 6462155 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr11:6462155C>A uc001mdg.2 - 1 100 c.39G>T c.(37-39)TTG>TTT p.L13F HPX_uc009yfc.2_RNA|HPX_uc010rai.1_Missense_Mutation_p.L13F NM_000613 NP_000604 P02790 HEMO_HUMAN hemopexin precursor 13 cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) ATAGGCTCCACAACCCCAGTG 0.562 8 18 --- --- --- --- PASS KCNA4 3739 broad.mit.edu 37 11 30033775 30033775 + Missense_Mutation SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr11:30033775A>T uc001msk.2 - 2 1603 c.451T>A c.(451-453)TGT>AGT p.C151S NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 151 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GTGTAGGAACACTCATCACCA 0.398 19 72 --- --- --- --- PASS PAX6 5080 broad.mit.edu 37 11 31812271 31812271 + Silent SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr11:31812271G>T uc001mtd.3 - 11 2060 c.1170C>A c.(1168-1170)GGC>GGA p.G390G PAX6_uc001mte.3_Silent_p.G390G|PAX6_uc001mtg.3_Silent_p.G404G|PAX6_uc001mtf.3_Silent_p.G390G|PAX6_uc001mth.3_Silent_p.G390G|PAX6_uc009yjr.2_Silent_p.G390G NM_001127612 NP_001121084 P26367 PAX6_HUMAN paired box gene 6 isoform a 390 Pro/Ser/Thr-rich. blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 9 Lung SC(675;0.225) TTGAAGTGGTGCCCGAGGTGC 0.542 Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation 22 88 --- --- --- --- PASS AMBRA1 55626 broad.mit.edu 37 11 46431886 46431886 + Missense_Mutation SNP T C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr11:46431886T>C uc010rgu.1 - 16 3509 c.3149A>G c.(3148-3150)GAC>GGC p.D1050G AMBRA1_uc010rgt.1_Intron|AMBRA1_uc009ylc.1_Missense_Mutation_p.D1021G|AMBRA1_uc001ncu.1_Missense_Mutation_p.D960G|AMBRA1_uc001ncv.2_Missense_Mutation_p.D1053G|AMBRA1_uc001ncw.2_Missense_Mutation_p.D931G|AMBRA1_uc001ncx.2_Missense_Mutation_p.D990G NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN activating molecule in beclin-1-regulated 1050 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) GTTCAGCTGGTCCCAGTAGTA 0.527 38 221 --- --- --- --- PASS OR4C46 119749 broad.mit.edu 37 11 51515299 51515299 + Silent SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr11:51515299C>T uc010ric.1 + 1 18 c.18C>T c.(16-18)AAC>AAT p.N6N NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 6 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ATAGGAATAACATGACAGAGT 0.299 37 132 --- --- --- --- PASS OR5T2 219464 broad.mit.edu 37 11 56000266 56000266 + Silent SNP T A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr11:56000266T>A uc010rjc.1 - 1 396 c.396A>T c.(394-396)TCA>TCT p.S132S NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 132 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) ATCCAAGGAATGAAATGACTT 0.388 28 159 --- --- --- --- PASS OR5M10 390167 broad.mit.edu 37 11 56345037 56345037 + Missense_Mutation SNP T C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr11:56345037T>C uc001niz.1 - 1 161 c.161A>G c.(160-162)CAA>CGA p.Q54R NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, 54 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGTTTGCAGTTGGGAATTGGT 0.463 27 127 --- --- --- --- PASS MS4A14 84689 broad.mit.edu 37 11 60183065 60183065 + Missense_Mutation SNP C G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr11:60183065C>G uc001npj.2 + 5 1189 c.624C>G c.(622-624)TTC>TTG p.F208L MS4A14_uc001npi.2_Missense_Mutation_p.F96L|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.F191L|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 208 integral to membrane receptor activity breast(1) 1 ATGCTTTCTTCAAGTTAACAC 0.373 35 165 --- --- --- --- PASS GANAB 23193 broad.mit.edu 37 11 62394373 62394373 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr11:62394373G>A uc001nub.2 - 20 2389 c.2356C>T c.(2356-2358)CAT>TAT p.H786Y GANAB_uc001ntz.2_5'UTR|GANAB_uc001nua.2_Missense_Mutation_p.H808Y|GANAB_uc001nuc.2_Missense_Mutation_p.H689Y|GANAB_uc010rma.1_Missense_Mutation_p.H694Y|GANAB_uc010rmb.1_Missense_Mutation_p.H672Y NM_198334 NP_938148 Q14697 GANAB_HUMAN neutral alpha-glucosidase AB isoform 2 786 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 TGGGGACCATGATGCTTCTGG 0.527 6 42 --- --- --- --- PASS FGF3 2248 broad.mit.edu 37 11 69625434 69625434 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr11:69625434C>T uc001oph.2 - 3 850 c.359G>A c.(358-360)CGG>CAG p.R120Q NM_005247 NP_005238 P11487 FGF3_HUMAN fibroblast growth factor 3 precursor 120 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation extracellular region growth factor activity ovary(1)|lung(1) 2 LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278) CTCGTGGATCCGCTCCACAAA 0.652 40 696 --- --- --- --- PASS MYO7A 4647 broad.mit.edu 37 11 76901870 76901870 + Silent SNP C G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr11:76901870C>G uc001oyb.2 + 30 4151 c.3879C>G c.(3877-3879)CTC>CTG p.L1293L MYO7A_uc010rsm.1_Silent_p.L1282L|MYO7A_uc001oyc.2_Silent_p.L1293L|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Silent_p.L504L NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 1293 FERM 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 AGATCTCTCTCAAGGACCGGT 0.627 3 125 --- --- --- --- PASS GRM5 2915 broad.mit.edu 37 11 88300889 88300889 + Silent SNP G C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr11:88300889G>C uc001pcq.2 - 7 2162 c.1962C>G c.(1960-1962)TCC>TCG p.S654S GRM5_uc009yvm.2_Silent_p.S654S NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 654 Helical; Name=3; (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) TCATGGCTGGGGAGAGACCAA 0.493 11 36 --- --- --- --- PASS DDI1 414301 broad.mit.edu 37 11 103907666 103907666 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr11:103907666G>A uc001phr.2 + 1 359 c.116G>A c.(115-117)AGA>AAA p.R39K PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 39 Ubiquitin-like. proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) GCGGAGTCCAGAGTCCCCGTC 0.587 59 167 --- --- --- --- PASS HTR3B 9177 broad.mit.edu 37 11 113816817 113816817 + Silent SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr11:113816817C>A uc001pok.2 + 9 1351 c.1284C>A c.(1282-1284)ACC>ACA p.T428T HTR3B_uc001pol.2_Silent_p.T417T NM_006028 NP_006019 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B 428 Helical; Name=4; (Potential). synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) GGATCTACACCATCACTCTGT 0.552 42 43 --- --- --- --- PASS MLL 4297 broad.mit.edu 37 11 118372451 118372451 + Silent SNP T A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr11:118372451T>A uc001pta.2 + 26 6398 c.6375T>A c.(6373-6375)CCT>CCA p.P2125P MLL_uc001ptb.2_Silent_p.P2128P NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2125 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) CAGACCGACCTCCTCATTCAC 0.433 T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 62 218 --- --- --- --- PASS PDZD3 79849 broad.mit.edu 37 11 119059796 119059796 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr11:119059796G>A uc001pwb.2 + 8 2092 c.1568G>A c.(1567-1569)GGA>GAA p.G523E PDZD3_uc001pvy.2_Missense_Mutation_p.G443E|PDZD3_uc001pvz.2_Missense_Mutation_p.G457E|PDZD3_uc010rzd.1_Missense_Mutation_p.G444E|PDZD3_uc001pwa.2_Missense_Mutation_p.G153E Q86UT5 NHRF4_HUMAN RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF4; Short=NHERF-4; AltName: Full=PDZ domain-containing protein 3; AltName: Full=PDZ domain-containing protein 2; AltName: Full=Intestinal and kidney-enriched PDZ protein; AltName: Full=Sodium-hydrogen exchanger regulatory factor 4; 523 PDZ 4. cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport apical part of cell|brush border|cytosol|membrane fraction|subapical complex guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding breast(1) 1 all_hematologic(175;0.0977) Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.52e-05) CCTGTTGGGGGACAGAATGAC 0.622 40 45 --- --- --- --- PASS OR8D4 338662 broad.mit.edu 37 11 123777855 123777855 + Silent SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr11:123777855C>T uc010saa.1 + 1 717 c.717C>T c.(715-717)AGC>AGT p.S239S NM_001005197 NP_001005197 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, 239 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) AAGCGTTTAGCACCTGTAGCT 0.463 52 210 --- --- --- --- PASS VWA5A 4013 broad.mit.edu 37 11 124007350 124007350 + Missense_Mutation SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr11:124007350A>T uc001pzu.2 + 14 1803 c.1594A>T c.(1594-1596)ACA>TCA p.T532S VWA5A_uc001pzt.2_Missense_Mutation_p.T532S NM_001130142 NP_001123614 O00534 VMA5A_HUMAN BCSC-1 isoform 1 532 upper_aerodigestive_tract(1)|ovary(1) 2 GGATAAGGTGACATTTCCTCT 0.318 49 160 --- --- --- --- PASS CACNA1C 775 broad.mit.edu 37 12 2743545 2743545 + Missense_Mutation SNP A G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr12:2743545A>G uc009zdu.1 + 32 4368 c.4055A>G c.(4054-4056)AAC>AGC p.N1352S CACNA1C_uc009zdv.1_Intron|CACNA1C_uc001qkb.2_Missense_Mutation_p.N1304S|CACNA1C_uc001qkc.2_Missense_Mutation_p.N1304S|CACNA1C_uc001qke.2_Missense_Mutation_p.N1304S|CACNA1C_uc001qkf.2_Missense_Mutation_p.N1304S|CACNA1C_uc001qjz.2_Missense_Mutation_p.N1304S|CACNA1C_uc001qkd.2_Missense_Mutation_p.N1304S|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc009zdw.1_Missense_Mutation_p.N1304S|CACNA1C_uc001qkh.2_Missense_Mutation_p.N1304S|CACNA1C_uc001qkl.2_Missense_Mutation_p.N1352S|CACNA1C_uc001qkn.2_Missense_Mutation_p.N1304S|CACNA1C_uc001qko.2_Missense_Mutation_p.N1324S|CACNA1C_uc001qkp.2_Intron|CACNA1C_uc001qkr.2_Missense_Mutation_p.N1332S|CACNA1C_uc001qku.2_Missense_Mutation_p.N1304S|CACNA1C_uc001qkq.2_Missense_Mutation_p.N1332S|CACNA1C_uc001qks.2_Intron|CACNA1C_uc001qkt.2_Intron|CACNA1C_uc001qki.1_Intron|CACNA1C_uc001qkj.1_Intron|CACNA1C_uc001qkk.1_Intron|CACNA1C_uc001qkm.1_Missense_Mutation_p.N1040S NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1352 Extracellular (Potential).|IV. axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) ACCGAGGTAAACGTAAGTACA 0.403 12 6 --- --- --- --- PASS ANO2 57101 broad.mit.edu 37 12 5756937 5756937 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr12:5756937G>A uc001qnm.2 - 16 1648 c.1576C>T c.(1576-1578)CGT>TGT p.R526C NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 531 Cytoplasmic (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 CCTGGGAAACGATCCTTCCAG 0.438 4 40 --- --- --- --- PASS GAPDH 2597 broad.mit.edu 37 12 6646779 6646779 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr12:6646779G>T uc001qop.1 + 8 657 c.555G>T c.(553-555)CAG>CAT p.Q185H GAPDH_uc009zep.1_Missense_Mutation_p.Q143H|GAPDH_uc001qoq.1_Missense_Mutation_p.Q110H|GAPDH_uc001qor.1_Missense_Mutation_p.Q144H|GAPDH_uc001qos.1_Missense_Mutation_p.Q185H|GAPDH_uc001qot.1_Missense_Mutation_p.Q185H|GAPDH_uc001qou.1_Missense_Mutation_p.Q144H|GAPDH_uc001qov.1_Missense_Mutation_p.Q143H|GAPDH_uc001qow.1_Missense_Mutation_p.Q138H|GAPDH_uc001qox.1_Missense_Mutation_p.Q11H NM_002046 NP_002037 P04406 G3P_HUMAN glyceraldehyde-3-phosphate dehydrogenase 185 gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization cytosol|membrane|nucleus|perinuclear region of cytoplasm glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding 0 NADH(DB00157) CTGCCACCCAGAAGACTGTGG 0.622 OREG0021628 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 63 --- --- --- --- PASS CLEC4A 50856 broad.mit.edu 37 12 8278191 8278191 + Missense_Mutation SNP T G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr12:8278191T>G uc001qtz.1 + 2 364 c.117T>G c.(115-117)AAT>AAG p.N39K CLEC4A_uc009zga.1_Intron|CLEC4A_uc001qub.1_Missense_Mutation_p.N39K|CLEC4A_uc001quc.1_Intron|CLEC4A_uc009zgb.1_Missense_Mutation_p.N39K NM_016184 NP_057268 Q9UMR7 CLC4A_HUMAN C-type lectin domain family 4, member A isoform 39 Cytoplasmic (Potential). cell adhesion|cell surface receptor linked signaling pathway|innate immune response integral to plasma membrane sugar binding|transmembrane receptor activity 0 Kidney(36;0.0915) ACAAAAGTAATACCGGATTCC 0.403 31 141 --- --- --- --- PASS TAS2R31 259290 broad.mit.edu 37 12 11183143 11183143 + Silent SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr12:11183143G>A uc001qzo.1 - 1 864 c.792C>T c.(790-792)TGC>TGT p.C264C PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176885 NP_795366 P59538 T2R31_HUMAN taste receptor, type 2, member 31 264 Helical; Name=7; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity 0 TAATAGCTTTGCAGAACATGA 0.393 82 437 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49435239 49435239 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr12:49435239C>T uc001rta.3 - 31 6314 c.6314G>A c.(6313-6315)CGC>CAC p.R2105H NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2105 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CGGGGGAATGCGGAGATGTAG 0.652 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 4 82 --- --- --- --- PASS ITGA7 3679 broad.mit.edu 37 12 56082084 56082084 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr12:56082084C>T uc001shh.2 - 23 3191 c.2971G>A c.(2971-2973)GAG>AAG p.E991K ITGA7_uc001shg.2_Missense_Mutation_p.E987K|ITGA7_uc010sps.1_Missense_Mutation_p.E894K|ITGA7_uc001shf.2_5'Flank|ITGA7_uc009znw.2_Missense_Mutation_p.E234K|ITGA7_uc009znx.2_Missense_Mutation_p.E868K NM_001144996 NP_001138468 Q13683 ITA7_HUMAN integrin alpha 7 isoform 1 precursor 1031 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 GCTGAGTACTCCTAAGGGAAC 0.502 18 74 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78513143 78513143 + Missense_Mutation SNP T G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr12:78513143T>G uc001syp.2 + 15 3340 c.3167T>G c.(3166-3168)ATT>AGT p.I1056S NAV3_uc001syo.2_Missense_Mutation_p.I1056S|NAV3_uc010sub.1_Missense_Mutation_p.I556S|NAV3_uc009zsf.2_Missense_Mutation_p.I64S NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1056 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CCCTCAGGCATTGGAAGATCG 0.488 HNSCC(70;0.22) 27 172 --- --- --- --- PASS MYF5 4617 broad.mit.edu 37 12 81112734 81112734 + Silent SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr12:81112734C>A uc001szg.2 + 3 807 c.672C>A c.(670-672)CTC>CTA p.L224L NM_005593 NP_005584 P13349 MYF5_HUMAN myogenic factor 5 224 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(1) 1 GGTTGCCTCTCCAGGATCTGG 0.493 39 137 --- --- --- --- PASS C12orf26 84190 broad.mit.edu 37 12 82793073 82793073 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr12:82793073G>A uc001szq.2 + 4 1052 c.1031G>A c.(1030-1032)AGA>AAA p.R344K NM_032230 NP_115606 Q8N6Q8 CL026_HUMAN hypothetical protein LOC84190 344 0 AAAGAGAGAAGAAAAATGACA 0.338 35 63 --- --- --- --- PASS SLC17A8 246213 broad.mit.edu 37 12 100796511 100796511 + Missense_Mutation SNP T G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr12:100796511T>G uc010svi.1 + 8 1354 c.1041T>G c.(1039-1041)TTT>TTG p.F347L SLC17A8_uc009ztx.2_Intron NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 347 Vesicular (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 TCTTTGGATTTGCAATAAGTA 0.328 21 88 --- --- --- --- PASS SRRM4 84530 broad.mit.edu 37 12 119583429 119583429 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr12:119583429C>A uc001txa.1 + 9 1307 c.1015C>A c.(1015-1017)CCC>ACC p.P339T NM_194286 NP_919262 A7MD48 SRRM4_HUMAN KIAA1853 protein 339 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding ovary(2) 2 CACCTCCTCACCCCAGAACAA 0.627 6 25 --- --- --- --- PASS FRY 10129 broad.mit.edu 37 13 32705840 32705840 + Nonsense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr13:32705840G>T uc001utx.2 + 8 1244 c.748G>T c.(748-750)GAG>TAG p.E250* FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 250 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) ATTTATGGCGGAGCTAAAAGA 0.388 50 52 --- --- --- --- PASS DCLK1 9201 broad.mit.edu 37 13 36521584 36521584 + Missense_Mutation SNP A G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr13:36521584A>G uc001uvf.2 - 4 967 c.734T>C c.(733-735)CTT>CCT p.L245P NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 245 Doublecortin 2. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) AAAGTCCTGAAGGCACATCAC 0.443 13 59 --- --- --- --- PASS RCBTB2 1102 broad.mit.edu 37 13 49084844 49084844 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr13:49084844C>T uc001vch.2 - 10 1218 c.847G>A c.(847-849)GCC>ACC p.A283T RCBTB2_uc010tgg.1_Missense_Mutation_p.A288T|RCBTB2_uc001vci.2_Missense_Mutation_p.A259T|RCBTB2_uc010tgh.1_Intron|RCBTB2_uc001vcj.2_Intron|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_Intron NM_001268 NP_001259 O95199 RCBT2_HUMAN regulator of chromosome condensation and BTB 283 RCC1 5. Ran guanyl-nucleotide exchange factor activity ovary(2)|lung(2)|skin(1) 5 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) TAAGAATTGGCGCCCCAAGCA 0.473 4 141 --- --- --- --- PASS TUBGCP3 10426 broad.mit.edu 37 13 113158371 113158371 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr13:113158371C>A uc001vse.1 - 19 2469 c.2282G>T c.(2281-2283)CGC>CTC p.R761L TUBGCP3_uc010tjq.1_Missense_Mutation_p.R751L|TUBGCP3_uc001vsf.2_Missense_Mutation_p.R761L NM_006322 NP_006313 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 761 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1) 1 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) CAGCAGGCAGCGGGAGATGAT 0.488 37 85 --- --- --- --- PASS POTEG 404785 broad.mit.edu 37 14 19553558 19553558 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr14:19553558G>A uc001vuz.1 + 1 194 c.142G>A c.(142-144)GAC>AAC p.D48N POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 48 ovary(1) 1 CACTTCTGGAGACCACGACGA 0.602 18 503 --- --- --- --- PASS KCNH5 27133 broad.mit.edu 37 14 63174229 63174229 + Missense_Mutation SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr14:63174229A>T uc001xfx.2 - 11 3015 c.2964T>A c.(2962-2964)TTT>TTA p.F988L KCNH5_uc001xfy.2_3'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 988 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) atatatatTAAAAGTGGATTT 0.254 18 56 --- --- --- --- PASS ZFYVE26 23503 broad.mit.edu 37 14 68275998 68275998 + Silent SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr14:68275998G>T uc001xka.2 - 4 421 c.282C>A c.(280-282)CTC>CTA p.L94L ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.L94L|ZFYVE26_uc010tta.1_Silent_p.L94L NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 94 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) AAACAACTGGGAGTAACTTCT 0.358 32 110 --- --- --- --- PASS ZFYVE1 53349 broad.mit.edu 37 14 73442325 73442325 + Silent SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr14:73442325C>T uc001xnm.2 - 9 2380 c.1740G>A c.(1738-1740)AAG>AAA p.K580K ZFYVE1_uc001xnl.2_Silent_p.K165K|ZFYVE1_uc010arj.2_Silent_p.K566K NM_021260 NP_067083 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 isoform 1 580 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding skin(1) 1 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) AAGTCACAGCCTTGGTGGGTC 0.587 21 69 --- --- --- --- PASS ZFYVE1 53349 broad.mit.edu 37 14 73442367 73442367 + Silent SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr14:73442367G>A uc001xnm.2 - 9 2338 c.1698C>T c.(1696-1698)TTC>TTT p.F566F ZFYVE1_uc001xnl.2_Silent_p.F151F|ZFYVE1_uc010arj.2_Silent_p.F552F NM_021260 NP_067083 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 isoform 1 566 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding skin(1) 1 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) ACTGAGCCATGAAGTTCATCC 0.557 17 71 --- --- --- --- PASS EML5 161436 broad.mit.edu 37 14 89181371 89181371 + Silent SNP A G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr14:89181371A>G uc001xxg.2 - 10 1542 c.1356T>C c.(1354-1356)AGT>AGC p.S452S EML5_uc001xxh.1_5'UTR NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 452 WD 9. cytoplasm|microtubule ovary(3) 3 GAGTGATGAAACTAAGGGATC 0.393 23 65 --- --- --- --- PASS CCDC88C 440193 broad.mit.edu 37 14 91766287 91766287 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr14:91766287G>A uc010aty.2 - 21 3862 c.3763C>T c.(3763-3765)CGG>TGG p.R1255W NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN DVL-binding protein DAPLE 1255 Potential. microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association ovary(3) 3 all_cancers(154;0.0468) AGCTCGCCCCGCAGCCTCTGG 0.637 3 4 --- --- --- --- PASS SLC24A4 123041 broad.mit.edu 37 14 92792310 92792310 + Missense_Mutation SNP T A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr14:92792310T>A uc001yak.2 + 2 202 c.178T>A c.(178-180)TGC>AGC p.C60S SLC24A4_uc001yai.2_Missense_Mutation_p.C13S|SLC24A4_uc010twm.1_Missense_Mutation_p.C77S|SLC24A4_uc001yaj.2_Missense_Mutation_p.C60S NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN solute carrier family 24 member 4 isoform 1 77 Extracellular (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(2)|ovary(1) 3 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) AGCCAAGAACTGCACAGATCC 0.502 13 33 --- --- --- --- PASS KIAA1409 57578 broad.mit.edu 37 14 94067100 94067100 + Silent SNP A G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr14:94067100A>G uc001ybv.1 + 22 3110 c.3027A>G c.(3025-3027)GAA>GAG p.E1009E KIAA1409_uc001ybs.1_Silent_p.E1009E NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1186 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) GTAACAAGGAATTTCCTTTTC 0.408 23 79 --- --- --- --- PASS TCL6 27004 broad.mit.edu 37 14 96135927 96135927 + Missense_Mutation SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr14:96135927A>T uc001yeq.2 + 5 1700 c.231A>T c.(229-231)AGA>AGT p.R77S TCL6_uc001yep.1_RNA|TCL6_uc001yes.2_3'UTR|TCL6_uc001yet.1_Missense_Mutation_p.R19S|TCL6_uc001yeu.2_3'UTR|TCL6_uc001yev.2_3'UTR|TCL1B_uc001yew.2_RNA|TCL1B_uc001yex.2_RNA|TCL1B_uc010avj.2_Intron|TCL6_uc010avk.1_5'Flank NM_020554 NP_065579 SubName: Full=T-cell leukemia/lymphoma 6 ORF163; 0 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) attcaaggagaggggaccatg 0.005 T TRA@ T-ALL 19 65 --- --- --- --- PASS ATG2B 55102 broad.mit.edu 37 14 96794853 96794853 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr14:96794853C>A uc001yfi.2 - 14 2359 c.1994G>T c.(1993-1995)AGT>ATT p.S665I NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 665 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) AGGAACTGAACTAAGTCTTGC 0.313 24 85 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106805485 106805485 + RNA SNP C T T rs113376532 by1000genomes TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr14:106805485C>T uc010tyt.1 - 360 c.13723G>A uc001ysw.1_5'Flank Parts of antibodies, mostly variable regions. 0 GTCCTGGGCCCGACTCCTGCA 0.607 11 253 --- --- --- --- PASS TMEM62 80021 broad.mit.edu 37 15 43427721 43427721 + Missense_Mutation SNP G C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr15:43427721G>C uc001zqr.2 + 3 583 c.304G>C c.(304-306)GAT>CAT p.D102H TMEM62_uc010bda.2_5'UTR NM_024956 NP_079232 Q0P6H9 TMM62_HUMAN transmembrane protein 62 102 integral to membrane ovary(1)|breast(1) 2 all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;4.23e-07) AGACCTGACAGATGCCAAAAC 0.408 22 26 --- --- --- --- PASS HERC1 8925 broad.mit.edu 37 15 63929830 63929830 + Nonsense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr15:63929830G>A uc002amp.2 - 64 12254 c.12106C>T c.(12106-12108)CAG>TAG p.Q4036* NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 4036 RCC1 8. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 GTACAATTCTGACCACAAATG 0.358 4 4 --- --- --- --- PASS NTRK3 4916 broad.mit.edu 37 15 88679203 88679203 + Silent SNP A G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr15:88679203A>G uc002bme.1 - 8 996 c.834T>C c.(832-834)AAT>AAC p.N278N NTRK3_uc002bmh.2_Silent_p.N278N|NTRK3_uc002bmf.1_Silent_p.N278N|NTRK3_uc010upl.1_Silent_p.N180N|NTRK3_uc010bnh.1_Silent_p.N278N|NTRK3_uc002bmg.2_Silent_p.N278N NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 278 Ig-like C2-type 1.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) GGGTGAAGCCATTGTCCTCAC 0.478 T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 29 136 --- --- --- --- PASS CHD2 1106 broad.mit.edu 37 15 93470511 93470511 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr15:93470511G>T uc002bsp.2 + 4 907 c.332G>T c.(331-333)CGG>CTG p.R111L CHD2_uc002bsm.1_Missense_Mutation_p.R111L|CHD2_uc002bsn.2_Missense_Mutation_p.R111L|CHD2_uc002bso.1_Missense_Mutation_p.R111L|CHD2_uc010urb.1_Missense_Mutation_p.R124L NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 111 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) GGGGTCAGGCGGTCAAACCGA 0.373 12 78 --- --- --- --- PASS RAB26 25837 broad.mit.edu 37 16 2203412 2203412 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr16:2203412G>T uc002cou.2 + 9 895 c.761G>T c.(760-762)TGC>TTC p.C254F RAB26_uc010bsf.2_Missense_Mutation_p.C188F|TRAF7_uc002cow.2_5'Flank NM_014353 NP_055168 Q9ULW5 RAB26_HUMAN RAB26, member RAS oncogene family 254 exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction intrinsic to plasma membrane GTP binding|protein binding 0 GCCTCCTGCTGCCGCCCTTGA 0.627 3 53 --- --- --- --- PASS UMOD 7369 broad.mit.edu 37 16 20348016 20348016 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr16:20348016C>A uc002dgz.2 - 9 1903 c.1774G>T c.(1774-1776)GTC>TTC p.V592F UMOD_uc002dha.2_Missense_Mutation_p.V592F|UMOD_uc002dhb.2_Missense_Mutation_p.V625F NM_003361 NP_003352 P07911 UROM_HUMAN uromodulin precursor 592 cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding ovary(1)|skin(1) 2 TGATCTATGACACTCCCACTT 0.527 44 53 --- --- --- --- PASS PDILT 204474 broad.mit.edu 37 16 20384235 20384235 + Missense_Mutation SNP A C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr16:20384235A>C uc002dhc.1 - 7 1030 c.807T>G c.(805-807)ATT>ATG p.I269M NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 269 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 GCAACTCGGAAATCAGATCCT 0.458 60 70 --- --- --- --- PASS ACSM2B 348158 broad.mit.edu 37 16 20570768 20570768 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr16:20570768G>T uc002dhj.3 - 4 389 c.179C>A c.(178-180)GCT>GAT p.A60D ACSM2B_uc002dhk.3_Missense_Mutation_p.A60D|ACSM2B_uc010bwf.1_Missense_Mutation_p.A60D NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 60 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 TCGCTTGCCAGCCTGAGGAAA 0.502 16 23 --- --- --- --- PASS ITGAL 3683 broad.mit.edu 37 16 30525157 30525157 + Missense_Mutation SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr16:30525157A>T uc002dyi.3 + 25 3028 c.2852A>T c.(2851-2853)CAC>CTC p.H951L ITGAL_uc002dyj.3_Missense_Mutation_p.H867L|ITGAL_uc010vev.1_Missense_Mutation_p.H185L NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor 951 Extracellular (Potential). blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) CAAGTCAAGCACATGTACCAG 0.502 17 75 --- --- --- --- PASS ITGAL 3683 broad.mit.edu 37 16 30525158 30525158 + Silent SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr16:30525158C>T uc002dyi.3 + 25 3029 c.2853C>T c.(2851-2853)CAC>CAT p.H951H ITGAL_uc002dyj.3_Silent_p.H867H|ITGAL_uc010vev.1_Silent_p.H185H NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor 951 Extracellular (Potential). blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) AAGTCAAGCACATGTACCAGG 0.507 18 73 --- --- --- --- PASS CDH8 1006 broad.mit.edu 37 16 61687975 61687975 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr16:61687975C>A uc002eog.1 - 12 2189 c.1937G>T c.(1936-1938)CGG>CTG p.R646L NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 646 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R646Q(1) ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) ATTTTTATGCCGCCGTAGAGT 0.393 40 197 --- --- --- --- PASS CDH8 1006 broad.mit.edu 37 16 62055227 62055227 + Silent SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr16:62055227A>T uc002eog.1 - 2 333 c.81T>A c.(79-81)ATT>ATA p.I27I NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 27 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GAGCCATGTAAATGCAAGGGG 0.438 30 174 --- --- --- --- PASS DYNLRB2 83657 broad.mit.edu 37 16 80577174 80577174 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr16:80577174C>A uc002ffo.2 + 4 125 c.5C>A c.(4-6)GCA>GAA p.A2E DYNLRB2_uc002ffp.2_RNA|DYNLRB2_uc002ffq.2_RNA NM_130897 NP_570967 Q8TF09 DLRB2_HUMAN dynein, light chain, roadblock-type 2 2 microtubule-based movement|transport cytoplasmic dynein complex|microtubule microtubule motor activity 0 CTCTTTCAGGCAGAGGTGGAG 0.413 65 245 --- --- --- --- PASS IRF8 3394 broad.mit.edu 37 16 85945236 85945236 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr16:85945236G>T uc002fjh.2 + 4 476 c.419G>T c.(418-420)CGC>CTC p.R140L IRF8_uc010chp.2_RNA NM_002163 NP_002154 Q02556 IRF8_HUMAN interferon regulatory factor 8 140 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|ovary(1) 3 Prostate(104;0.0771) GAGTGCGGTCGCTCTGAAATC 0.552 34 31 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10438456 10438456 + Missense_Mutation SNP A G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr17:10438456A>G uc010coi.2 - 19 2242 c.2114T>C c.(2113-2115)CTG>CCG p.L705P uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.L705P|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 705 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 GATGCCTTCCAGCACACCGTT 0.453 81 65 --- --- --- --- PASS UBB 7314 broad.mit.edu 37 17 16285604 16285604 + Missense_Mutation SNP A G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr17:16285604A>G uc002gpx.2 + 2 521 c.383A>G c.(382-384)GAT>GGT p.D128G UBB_uc010vwe.1_Intron NM_018955 NP_061828 P0CG47 UBB_HUMAN ubiquitin B precursor 128 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding skin(3) 3 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) CAGCTGGAAGATGGCCGCACT 0.547 21 96 --- --- --- --- PASS TNFRSF13B 23495 broad.mit.edu 37 17 16843026 16843026 + Silent SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr17:16843026C>T uc002gqs.1 - 5 730 c.717G>A c.(715-717)GCG>GCA p.A239A TNFRSF13B_uc010vwt.1_RNA|TNFRSF13B_uc002gqt.1_Silent_p.A193A NM_012452 NP_036584 O14836 TR13B_HUMAN tumor necrosis factor receptor 13B 239 Cytoplasmic (Potential). cell surface receptor linked signaling pathway integral to plasma membrane protein binding|receptor activity kidney(2) 2 CCTGCGTGGGCGCCCTGCACT 0.672 IgA_Deficiency_Selective 8 31 --- --- --- --- PASS UNC45B 146862 broad.mit.edu 37 17 33477133 33477133 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr17:33477133G>A uc002hja.2 + 4 369 c.272G>A c.(271-273)GGG>GAG p.G91E UNC45B_uc002hjb.2_Missense_Mutation_p.G91E|UNC45B_uc002hjc.2_Missense_Mutation_p.G91E|UNC45B_uc010cto.2_Missense_Mutation_p.G91E NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN cardiomyopathy associated 4 isoform 1 91 TPR 3. cell differentiation|muscle organ development cytosol binding ovary(3)|central_nervous_system(2)|breast(1) 6 Ovarian(249;0.17) GAGCACCTGGGGAAGCTGGAC 0.587 15 77 --- --- --- --- PASS EFTUD2 9343 broad.mit.edu 37 17 42932010 42932010 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr17:42932010C>T uc002ihn.2 - 22 2434 c.2173G>A c.(2173-2175)GAT>AAT p.D725N EFTUD2_uc010wje.1_Missense_Mutation_p.D690N|EFTUD2_uc010wjf.1_Missense_Mutation_p.D715N NM_004247 NP_004238 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain 725 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding ovary(1) 1 Prostate(33;0.109) GCCAGCAGATCCCAATCGTAC 0.567 65 105 --- --- --- --- PASS CRHR1 1394 broad.mit.edu 37 17 43906642 43906642 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr17:43906642C>T uc010dap.2 + 5 654 c.389C>T c.(388-390)TCC>TTC p.S130F CRHR1_uc010wjx.1_5'UTR|CRHR1_uc002ijp.2_Missense_Mutation_p.S29F|CRHR1_uc002ijm.2_Missense_Mutation_p.S130F|CRHR1_uc002ijn.2_Missense_Mutation_p.S90F|CRHR1_uc010dar.2_Missense_Mutation_p.S130F|CRHR1_uc010dao.2_Missense_Mutation_p.S29F|CRHR1_uc010daq.2_5'UTR|CRHR1_uc010das.1_RNA|CRHR1_uc002ijo.1_RNA NM_001145146 NP_001138618 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 130 Helical; Name=1; (Potential). female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(3) 3 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) CACTGTATCTCCCTGGTGGCC 0.582 26 42 --- --- --- --- PASS KIAA1267 284058 broad.mit.edu 37 17 44116482 44116482 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr17:44116482G>A uc002ikb.2 - 8 2388 c.2303C>T c.(2302-2304)GCA>GTA p.A768V KIAA1267_uc002ikc.2_Missense_Mutation_p.A768V|KIAA1267_uc002ikd.2_Missense_Mutation_p.A768V|KIAA1267_uc010dav.2_Missense_Mutation_p.A768V|KIAA1267_uc010wkb.1_Missense_Mutation_p.A99V|KIAA1267_uc010wkc.1_Intron NM_015443 NP_056258 Q7Z3B3 K1267_HUMAN hypothetical protein LOC284058 768 MLL1 complex protein binding skin(2) 2 Melanoma(429;0.211) CAAGCGCTCTGCTTTTGGCGC 0.587 38 168 --- --- --- --- PASS HOXB5 3215 broad.mit.edu 37 17 46670559 46670559 + Missense_Mutation SNP C T T rs139139266 by1000genomes TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr17:46670559C>T uc002inr.2 - 1 545 c.486G>A c.(484-486)ATG>ATA p.M162I HOXB3_uc010wlm.1_5'Flank|HOXB3_uc010dbf.2_5'Flank|HOXB3_uc010dbg.2_5'Flank NM_002147 NP_002138 P09067 HXB5_HUMAN homeobox B5 162 nucleus sequence-specific DNA binding 0 TGGAGGTGGCCATGGGCTCTG 0.597 21 81 --- --- --- --- PASS IGF2BP1 10642 broad.mit.edu 37 17 47126782 47126782 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr17:47126782C>A uc002iom.2 + 15 2044 c.1710C>A c.(1708-1710)AAC>AAA p.N570K IGF2BP1_uc010dbj.2_Missense_Mutation_p.N431K NM_006546 NP_006537 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding 570 Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity). CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity kidney(1) 1 GACAGAGTAACCAGGCCCAGG 0.597 4 43 --- --- --- --- PASS CACNG4 27092 broad.mit.edu 37 17 65026669 65026669 + Missense_Mutation SNP A G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr17:65026669A>G uc002jft.1 + 4 548 c.533A>G c.(532-534)CAT>CGT p.H178R NM_014405 NP_055220 Q9UBN1 CCG4_HUMAN voltage-dependent calcium channel gamma-4 178 Extracellular (Potential). membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1) 1 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) AAAAAGAACCATTACAACTAC 0.458 53 123 --- --- --- --- PASS ABCA6 23460 broad.mit.edu 37 17 67081324 67081324 + Splice_Site SNP C G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr17:67081324C>G uc002jhw.1 - 32 4205 c.4030_splice c.e32-1 p.V1344_splice NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) TCAGTTCCACCTAAAAAAATA 0.448 6 24 --- --- --- --- PASS TTYH2 94015 broad.mit.edu 37 17 72239531 72239531 + Silent SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr17:72239531G>T uc002jkc.2 + 5 685 c.654G>T c.(652-654)CTG>CTT p.L218L TTYH2_uc010wqw.1_Silent_p.L197L NM_032646 NP_116035 Q9BSA4 TTYH2_HUMAN tweety 2 isoform 1 218 Helical; Name=3; (Potential). chloride channel complex|plasma membrane chloride channel activity|protein binding ovary(3)|large_intestine(1) 4 CCTACCTCCTGCTCTTTATCC 0.627 20 136 --- --- --- --- PASS RPTOR 57521 broad.mit.edu 37 17 78866598 78866598 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr17:78866598G>A uc002jyt.1 + 19 2976 c.2171G>A c.(2170-2172)GGA>GAA p.G724E RPTOR_uc010wug.1_Missense_Mutation_p.G566E NM_020761 NP_065812 Q8N122 RPTOR_HUMAN raptor isoform 1 724 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding lung(4)|urinary_tract(1)|ovary(1) 6 AGCTCCTATGGAAACATCCGT 0.502 32 158 --- --- --- --- PASS NPLOC4 55666 broad.mit.edu 37 17 79534552 79534552 + Missense_Mutation SNP T C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr17:79534552T>C uc002kat.3 - 15 1639 c.1457A>G c.(1456-1458)CAT>CGT p.H486R NPLOC4_uc002kau.3_Missense_Mutation_p.H486R|NPLOC4_uc010wur.1_Missense_Mutation_p.H325R|NPLOC4_uc010dic.2_5'Flank|NPLOC4_uc002kas.2_Missense_Mutation_p.I10V NM_017921 NP_060391 Q8TAT6 NPL4_HUMAN nuclear protein localization 4 486 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) GGCCAAGCTATGGAAGTCCTA 0.448 8 17 --- --- --- --- PASS LPIN2 9663 broad.mit.edu 37 18 2921625 2921625 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr18:2921625G>A uc002klo.2 - 18 2587 c.2348C>T c.(2347-2349)CCA>CTA p.P783L NM_014646 NP_055461 Q92539 LPIN2_HUMAN lipin 2 783 C-LIP. fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity ovary(1)|skin(1) 2 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) GAACTTCTCTGGTTTCTTTTC 0.383 45 96 --- --- --- --- PASS DSG4 147409 broad.mit.edu 37 18 28979337 28979337 + Missense_Mutation SNP A G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr18:28979337A>G uc002kwq.2 + 9 1243 c.1108A>G c.(1108-1110)ACC>GCC p.T370A DSG4_uc002kwr.2_Missense_Mutation_p.T370A NM_177986 NP_817123 Q86SJ6 DSG4_HUMAN desmoglein 4 isoform 2 preproprotein 370 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(3) 8 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AATGCACCCAACCCCTGTGAG 0.418 46 314 --- --- --- --- PASS NOL4 8715 broad.mit.edu 37 18 31599452 31599452 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr18:31599452C>A uc010dmi.2 - 6 1115 c.886G>T c.(886-888)GGG>TGG p.G296W NOL4_uc010xbs.1_Missense_Mutation_p.G11W|NOL4_uc002kxr.3_Missense_Mutation_p.G132W|NOL4_uc010xbt.1_Missense_Mutation_p.G222W|NOL4_uc010dmh.2_Missense_Mutation_p.G222W|NOL4_uc010xbu.1_Missense_Mutation_p.G296W|NOL4_uc002kxt.3_Missense_Mutation_p.G296W|NOL4_uc010xbv.1_Missense_Mutation_p.G45W|NOL4_uc010xbw.1_Missense_Mutation_p.G182W NM_003787 NP_003778 O94818 NOL4_HUMAN nucleolar protein 4 296 nucleolus RNA binding ovary(3) 3 TGCTCCAGCCCAGTTTTGCCA 0.498 19 50 --- --- --- --- PASS TCEB3C 162699 broad.mit.edu 37 18 44554669 44554669 + Silent SNP C G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr18:44554669C>G uc010xdb.1 - 1 1781 c.1545G>C c.(1543-1545)GCG>GCC p.A515A KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 515 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding 0 TGTccgcgggcgccgcgtgcc 0.373 5 186 --- --- --- --- PASS NARS 4677 broad.mit.edu 37 18 55270146 55270146 + Missense_Mutation SNP C T T rs145472082 TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr18:55270146C>T uc002lgs.2 - 12 1509 c.1281G>A c.(1279-1281)ATG>ATA p.M427I NARS_uc002lgt.2_Missense_Mutation_p.M426I|NARS_uc010xea.1_Missense_Mutation_p.M178I NM_004539 NP_004530 O43776 SYNC_HUMAN asparaginyl-tRNA synthetase 427 asparaginyl-tRNA aminoacylation cytosol|soluble fraction asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding 0 Colorectal(73;0.227) L-Asparagine(DB00174) TGGTGTCTGTCATCAGTCTCT 0.453 30 81 --- --- --- --- PASS C19orf6 91304 broad.mit.edu 37 19 1014274 1014274 + Missense_Mutation SNP C A A rs145798599 TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr19:1014274C>A uc002lqr.1 - 2 570 c.424G>T c.(424-426)GTG>TTG p.V142L C19orf6_uc002lqq.1_5'Flank|C19orf6_uc002lqs.1_Missense_Mutation_p.V142L NM_001033026 NP_001028198 Q4ZIN3 MBRL_HUMAN membralin isoform 1 142 cytoplasm|integral to membrane pancreas(2)|breast(1) 3 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.0252)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGGTTCCACGGCCAGGCCC 0.642 23 35 --- --- --- --- PASS PKN1 5585 broad.mit.edu 37 19 14574647 14574647 + Silent SNP G A A rs149310057 by1000genomes TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr19:14574647G>A uc002myp.2 + 11 1671 c.1503G>A c.(1501-1503)GCG>GCA p.A501A PKN1_uc002myq.2_Silent_p.A507A NM_002741 NP_002732 Q16512 PKN1_HUMAN protein kinase N1 isoform 2 501 activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 CAGGGAAGGCGTTCCAGCGTG 0.667 19 50 --- --- --- --- PASS CYP4F8 11283 broad.mit.edu 37 19 15734154 15734154 + Missense_Mutation SNP T C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr19:15734154T>C uc002nbi.2 + 9 951 c.887T>C c.(886-888)TTG>TCG p.L296S CYP4F8_uc010xoj.1_Missense_Mutation_p.L108S NM_007253 NP_009184 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, 296 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding large_intestine(1) 1 TCCAAGACTTTGGACTTTATT 0.532 47 44 --- --- --- --- PASS CYP4F8 11283 broad.mit.edu 37 19 15734155 15734155 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr19:15734155G>T uc002nbi.2 + 9 952 c.888G>T c.(886-888)TTG>TTT p.L296F CYP4F8_uc010xoj.1_Missense_Mutation_p.L108F NM_007253 NP_009184 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, 296 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding large_intestine(1) 1 CCAAGACTTTGGACTTTATTG 0.532 48 43 --- --- --- --- PASS C19orf44 84167 broad.mit.edu 37 19 16611923 16611923 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr19:16611923G>A uc002neh.1 + 2 393 c.320G>A c.(319-321)CGG>CAG p.R107Q MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.R107Q|C19orf44_uc002neg.2_Missense_Mutation_p.R107Q|C19orf44_uc010eai.1_RNA NM_032207 NP_115583 Q9H6X5 CS044_HUMAN hypothetical protein LOC84167 107 0 ATCATGAATCGGAAGCTGCAG 0.572 4 171 --- --- --- --- PASS MYO9B 4650 broad.mit.edu 37 19 17298786 17298786 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr19:17298786C>T uc010eak.2 + 19 2772 c.2620C>T c.(2620-2622)CGC>TGC p.R874C MYO9B_uc002nfi.2_Missense_Mutation_p.R874C|MYO9B_uc002nfj.1_Missense_Mutation_p.R874C NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 874 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 GCAGCAGCTGCGCTACACCGG 0.582 12 6 --- --- --- --- PASS FAM125A 93343 broad.mit.edu 37 19 17534529 17534529 + Silent SNP G A A rs144389449 byFrequency TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr19:17534529G>A uc002ngo.1 + 6 594 c.561G>A c.(559-561)GCG>GCA p.A187A FAM125A_uc002ngp.1_Silent_p.A95A|FAM125A_uc002ngq.1_Silent_p.A83A NM_138401 NP_612410 Q96EY5 F125A_HUMAN family with sequence similarity 125, member A 187 protein transport late endosome membrane|microtubule organizing center|nucleus SH3 domain binding 0 AGCGGACAGCGTCAAGGCTGG 0.622 43 42 --- --- --- --- PASS LRFN3 79414 broad.mit.edu 37 19 36431636 36431636 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr19:36431636G>T uc002oco.2 + 2 1761 c.1309G>T c.(1309-1311)GGG>TGG p.G437W NM_024509 NP_078785 Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III 437 Extracellular (Potential).|Fibronectin type-III. cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane 0 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GACTGAGCACGGGGCCACAGC 0.642 16 21 --- --- --- --- PASS MYH14 79784 broad.mit.edu 37 19 50764812 50764812 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr19:50764812G>T uc002prr.1 + 19 2429 c.2382G>T c.(2380-2382)CAG>CAT p.Q794H MYH14_uc010enu.1_Missense_Mutation_p.Q835H|MYH14_uc002prq.1_Missense_Mutation_p.Q802H NM_024729 NP_079005 Q7Z406 MYH14_HUMAN myosin, heavy chain 14 isoform 2 794 Myosin head-like. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1) 1 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) TCCTGGCCCAGCTGGAAGAGG 0.647 7 41 --- --- --- --- PASS DPRX 503834 broad.mit.edu 37 19 54137819 54137819 + Silent SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr19:54137819C>A uc002qcf.1 + 2 114 c.63C>A c.(61-63)ACC>ACA p.T21T NM_001012728 NP_001012746 A6NFQ7 DPRX_HUMAN divergent-paired related homeobox 21 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) GGAAACGAACCATGTTCACTA 0.433 45 157 --- --- --- --- PASS NLRP12 91662 broad.mit.edu 37 19 54313978 54313978 + Missense_Mutation SNP A G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr19:54313978A>G uc002qch.3 - 3 1155 c.935T>C c.(934-936)CTC>CCC p.L312P NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.L312P|NLRP12_uc002qcj.3_Missense_Mutation_p.L312P|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.L312P NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 312 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CTCCCAGCAGAGGCACCAGGG 0.572 38 49 --- --- --- --- PASS ZIM3 114026 broad.mit.edu 37 19 57646678 57646678 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr19:57646678C>A uc002qnz.1 - 5 1413 c.1027G>T c.(1027-1029)GCC>TCC p.A343S NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 343 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGGGAAAAGGCCTTCTCACAT 0.403 51 283 --- --- --- --- PASS ZNF329 79673 broad.mit.edu 37 19 58639467 58639467 + Silent SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr19:58639467G>T uc002qrn.2 - 4 1641 c.1404C>A c.(1402-1404)TCC>TCA p.S468S ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA NM_024620 NP_078896 Q86UD4 ZN329_HUMAN zinc finger protein 329 468 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) TGGTCAGACAGGAGCTGTCCC 0.498 4 159 --- --- --- --- PASS KIF16B 55614 broad.mit.edu 37 20 16254017 16254017 + Missense_Mutation SNP C G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr20:16254017C>G uc002wpg.1 - 26 3993 c.3835G>C c.(3835-3837)GCA>CCA p.A1279P KIF16B_uc002wpe.1_Missense_Mutation_p.A631P|KIF16B_uc002wpf.1_Missense_Mutation_p.A620P|KIF16B_uc010gch.1_Missense_Mutation_p.A1228P NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 1279 PX. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 GGAGATGTTGCGGACTGGAGC 0.383 39 88 --- --- --- --- PASS SLC32A1 140679 broad.mit.edu 37 20 37356472 37356472 + Silent SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr20:37356472C>T uc002xjc.2 + 2 1031 c.768C>T c.(766-768)TTC>TTT p.F256F NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 256 Helical; (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CTTGCGCCTTCCTTAAGAACC 0.582 12 55 --- --- --- --- PASS SLC32A1 140679 broad.mit.edu 37 20 37356623 37356623 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr20:37356623C>A uc002xjc.2 + 2 1182 c.919C>A c.(919-921)CCC>ACC p.P307T NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 307 Helical; (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CAAGAAGTTCCCCATCTCCAT 0.542 20 92 --- --- --- --- PASS WFDC8 90199 broad.mit.edu 37 20 44181840 44181840 + Missense_Mutation SNP T A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr20:44181840T>A uc002xow.2 - 5 600 c.521A>T c.(520-522)GAT>GTT p.D174V WFDC8_uc002xox.2_Missense_Mutation_p.D174V NM_181510 NP_852611 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 precursor 174 WAP 2. extracellular region serine-type endopeptidase inhibitor activity 0 Myeloproliferative disorder(115;0.0122) CTGGGGACAATCGATGTCACT 0.468 56 142 --- --- --- --- PASS SLC12A5 57468 broad.mit.edu 37 20 44684805 44684805 + Missense_Mutation SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr20:44684805A>T uc010zxl.1 + 22 2949 c.2873A>T c.(2872-2874)GAT>GTT p.D958V SLC12A5_uc002xrb.2_Missense_Mutation_p.D935V NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 958 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) AGTATCACAGATGAGTCACGA 0.522 31 78 --- --- --- --- PASS CASS4 57091 broad.mit.edu 37 20 55033756 55033756 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr20:55033756G>A uc002xxp.2 + 7 2539 c.2314G>A c.(2314-2316)GAG>AAG p.E772K CASS4_uc002xxr.2_Missense_Mutation_p.E772K|CASS4_uc010zze.1_Missense_Mutation_p.E718K|CASS4_uc010gio.2_Missense_Mutation_p.E335K NM_001164116 NP_001157588 Q9NQ75 CASS4_HUMAN HEF-like protein isoform a 772 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity ovary(2)|skin(1) 3 GGCGGAGGCTGAGAAGCTGGA 0.622 9 37 --- --- --- --- PASS PCMTD2 55251 broad.mit.edu 37 20 62899256 62899256 + Missense_Mutation SNP G A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr20:62899256G>A uc002yil.3 + 5 799 c.599G>A c.(598-600)CGC>CAC p.R200H PCMTD2_uc002yim.3_Intron NM_018257 NP_060727 Q9NV79 PCMD2_HUMAN protein-L-isoaspartate (D-aspartate) 200 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) AAGATAACACGCACAGGTCCT 0.373 18 130 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10908867 10908867 + Nonsense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr21:10908867G>T uc002yip.1 - 23 1846 c.1478C>A c.(1477-1479)TCA>TAA p.S493* TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Nonsense_Mutation_p.S475*|TPTE_uc002yir.1_Nonsense_Mutation_p.S455*|TPTE_uc010gkv.1_Nonsense_Mutation_p.S355* NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 493 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAGTAAAATGAGCAATTGTC 0.289 9 104 --- --- --- --- PASS CYYR1 116159 broad.mit.edu 37 21 27852619 27852619 + Silent SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr21:27852619A>T uc002ymd.2 - 3 628 c.306T>A c.(304-306)ACT>ACA p.T102T CYYR1_uc011ack.1_RNA|CYYR1_uc002yme.2_Silent_p.T102T NM_052954 NP_443186 Q96J86 CYYR1_HUMAN cysteine and tyrosine-rich 1 protein precursor 102 Cytoplasmic (Potential). integral to membrane 0 TGTTGATGTGAGTCGTCCTGA 0.502 35 126 --- --- --- --- PASS IGSF5 150084 broad.mit.edu 37 21 41151188 41151188 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr21:41151188G>T uc002yyo.2 + 5 993 c.890G>T c.(889-891)TGC>TTC p.C297F NM_001080444 NP_001073913 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily 5 like 297 Cytoplasmic (Potential).|Cys-rich. integral to membrane|tight junction 0 Prostate(19;5.35e-06) tgttgtggctgcaactgctgc 0.274 3 6 --- --- --- --- PASS SMTN 6525 broad.mit.edu 37 22 31487126 31487126 + Missense_Mutation SNP A C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr22:31487126A>C uc003ajl.1 + 10 1335 c.1117A>C c.(1117-1119)ACC>CCC p.T373P SMTN_uc003ajk.1_Missense_Mutation_p.T373P|SMTN_uc003ajm.1_Missense_Mutation_p.T373P|SMTN_uc011ale.1_Missense_Mutation_p.T427P|SMTN_uc011alf.1_Missense_Mutation_p.T429P|SMTN_uc003ajn.1_Missense_Mutation_p.T365P|SMTN_uc011alg.1_5'UTR|SMTN_uc003ajo.1_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.1_5'Flank NM_006932 NP_008863 P53814 SMTN_HUMAN smoothelin isoform c 373 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle large_intestine(2)|pancreas(1) 3 CACCAGCACCACCCCTGCCTC 0.672 7 76 --- --- --- --- PASS SREBF2 6721 broad.mit.edu 37 22 42290907 42290907 + Nonsense_Mutation SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr22:42290907A>T uc003bbi.2 + 13 2630 c.2461A>T c.(2461-2463)AAG>TAG p.K821* WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA NM_004599 NP_004590 Q12772 SRBP2_HUMAN sterol regulatory element-binding transcription 821 Cytoplasmic (Potential). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding breast(2)|ovary(1)|central_nervous_system(1) 4 ACCTCAGGCCAAGAAGAAGGC 0.582 31 125 --- --- --- --- PASS CNKSR2 22866 broad.mit.edu 37 X 21519702 21519702 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chrX:21519702C>T uc004czx.1 + 8 842 c.806C>T c.(805-807)ACT>ATT p.T269I CNKSR2_uc004czw.2_Missense_Mutation_p.T269I|CNKSR2_uc011mjn.1_Missense_Mutation_p.T269I|CNKSR2_uc011mjo.1_Missense_Mutation_p.T269I NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 269 PDZ. regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 AATCATCAGACTGTGGTATGT 0.328 11 27 --- --- --- --- PASS MAGEB4 4115 broad.mit.edu 37 X 30261248 30261248 + Silent SNP T C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chrX:30261248T>C uc004dcb.2 + 1 1080 c.996T>C c.(994-996)AGT>AGC p.S332S MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank NM_002367 NP_002358 O15481 MAGB4_HUMAN melanoma antigen family B, 4 332 ovary(1) 1 CCATGACTAGTGCGTATTCCA 0.512 24 17 --- --- --- --- PASS XK 7504 broad.mit.edu 37 X 37587107 37587107 + Missense_Mutation SNP A T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chrX:37587107A>T uc004ddq.2 + 3 809 c.727A>T c.(727-729)ATC>TTC p.I243F NM_021083 NP_066569 P51811 XK_HUMAN membrane transport protein XK 243 Helical; (Potential). amino acid transport integral to membrane protein binding|transporter activity 0 all_lung(315;0.175) TATAATACTCATCAACTTCTT 0.502 45 23 --- --- --- --- PASS UBQLN2 29978 broad.mit.edu 37 X 56591637 56591637 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chrX:56591637C>T uc004dus.2 + 1 1566 c.1331C>T c.(1330-1332)TCA>TTA p.S444L UBQLN2_uc011moq.1_Missense_Mutation_p.S444L NM_013444 NP_038472 Q9UHD9 UBQL2_HUMAN ubiquilin 2 444 cytoplasm|nucleus|plasma membrane binding ovary(1)|skin(1) 2 GACACACTATCAGCCATGTCA 0.537 11 36 --- --- --- --- PASS HEPH 9843 broad.mit.edu 37 X 65486440 65486440 + Missense_Mutation SNP C G G rs73217443 by1000genomes TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chrX:65486440C>G uc011moz.1 + 21 3472 c.3412C>G c.(3412-3414)CGA>GGA p.R1138G HEPH_uc004dwn.2_Missense_Mutation_p.R1137G|HEPH_uc004dwo.2_Missense_Mutation_p.R868G|HEPH_uc010nkr.2_Missense_Mutation_p.R946G|HEPH_uc011mpa.1_Missense_Mutation_p.R1138G NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 1135 Cytoplasmic (Potential). cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 GTACCAACATCGACAGAGAAA 0.478 21 32 --- --- --- --- PASS DACH2 117154 broad.mit.edu 37 X 86069820 86069820 + Missense_Mutation SNP G T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chrX:86069820G>T uc004eew.2 + 10 1837 c.1667G>T c.(1666-1668)GGC>GTC p.G556V DACH2_uc004eex.2_Missense_Mutation_p.G543V|DACH2_uc010nmq.2_Missense_Mutation_p.G422V|DACH2_uc011mra.1_Missense_Mutation_p.G389V|DACH2_uc010nmr.2_Missense_Mutation_p.G337V|DACH2_uc004eey.2_Missense_Mutation_p.G249V|DACH2_uc004eez.2_Missense_Mutation_p.G239V NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 556 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 AGTGACAGTGGCCTGAGGATG 0.363 4 28 --- --- --- --- PASS NXF5 55998 broad.mit.edu 37 X 101096717 101096717 + Missense_Mutation SNP C A A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chrX:101096717C>A uc011mrk.1 - 5 529 c.169G>T c.(169-171)GTC>TTC p.V57F NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_Intron|NXF5_uc004eil.1_Intron NM_032946 NP_116564 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 57 RRM. mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 GCAACCTGGACAAAGAAGCAT 0.498 4 134 --- --- --- --- PASS CAPN6 827 broad.mit.edu 37 X 110491210 110491210 + Missense_Mutation SNP G T T rs12851568 TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chrX:110491210G>T uc004epc.1 - 11 1663 c.1495C>A c.(1495-1497)CTG>ATG p.L499M CAPN6_uc011msu.1_Missense_Mutation_p.L244M NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN calpain 6 499 microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1) 6 GGCATGTCCAGAGTCAGTTCC 0.428 68 111 --- --- --- --- PASS THOC2 57187 broad.mit.edu 37 X 122757941 122757941 + Silent SNP A C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chrX:122757941A>C uc004etu.2 - 27 3320 c.3288T>G c.(3286-3288)GTT>GTG p.V1096V THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_5'Flank NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 1096 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 ATTTATGTACAACATGTCGAA 0.318 24 45 --- --- --- --- PASS OCRL 4952 broad.mit.edu 37 X 128722987 128722987 + Silent SNP A G G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chrX:128722987A>G uc004euq.2 + 22 2631 c.2466A>G c.(2464-2466)CGA>CGG p.R822R OCRL_uc004eur.2_Silent_p.R814R|OCRL_uc010nrb.2_RNA NM_000276 NP_000267 Q01968 OCRL_HUMAN phosphatidylinositol polyphosphate 5-phosphatase 822 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding lung(2)|ovary(1)|kidney(1) 4 GGATCTGCCGACAGGTGGGTT 0.522 31 40 --- --- --- --- PASS MAGEC3 139081 broad.mit.edu 37 X 140953296 140953296 + Missense_Mutation SNP C T T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chrX:140953296C>T uc011mwp.1 + 2 163 c.163C>T c.(163-165)CAT>TAT p.H55Y NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 55 skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) TTCTGCCTTTCATCTTGGGCA 0.512 31 37 --- --- --- --- PASS TSPY2 64591 broad.mit.edu 37 Y 6115633 6115633 + Missense_Mutation SNP T C C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chrY:6115633T>C uc004fqr.1 + 3 641 c.595T>C c.(595-597)TGC>CGC p.C199R TSPY2_uc004fqs.1_Missense_Mutation_p.C199R NM_022573 NP_072095 A6NKD2 TSPY2_HUMAN testis specific protein, Y-linked 2 199 cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis cytoplasm|nucleus 0 TGTTCATCTCTGCAAGATCAT 0.468 77 382 --- --- --- --- PASS RIC8A 60626 broad.mit.edu 37 11 212501 212501 + Frame_Shift_Del DEL T - - TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr11:212501delT uc001log.2 + 6 1380 c.1055delT c.(1054-1056)CTGfs p.L352fs RIC8A_uc001lof.2_Frame_Shift_Del_p.L352fs|RIC8A_uc001loh.2_Frame_Shift_Del_p.L345fs NM_021932 NP_068751 Q9NPQ8 RIC8A_HUMAN resistance to inhibitors of cholinesterase 8 352 cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity 0 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) AGGAAGTTCCTGAAGGCCCAG 0.587 26 12 --- --- --- --- HMGB3L1 128872 broad.mit.edu 37 20 33421797 33421797 + RNA DEL T - - TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a96eddfc-3afb-4bf8-a440-c91778113fbd f318c548-d5f1-41a6-80f3-db1a98ad8530 g.chr20:33421797delT uc002xax.2 - 1 c.469delA NR_002165 Homo sapiens high-mobility group (nonhistone chromosomal) protein 4-like, mRNA (cDNA clone IMAGE:40002762). 0 TCTCTCTCTCttttttttttt 0.214 3 3 --- --- --- ---