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 PUSL1 126789 broad.mit.edu 37 1 1244324 1244324 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:1244324G>T uc001aed.2 + 2 137 c.107G>T c.(106-108)CGC>CTC p.R36L ACAP3_uc001aeb.2_5'Flank|ACAP3_uc001aec.1_Intron|PUSL1_uc010nyi.1_Intron|PUSL1_uc009vjx.2_5'Flank NM_153339 NP_699170 Q8N0Z8 PUSL1_HUMAN pseudouridylate synthase-like 1 36 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding skin(1) 1 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GGCACTCAGCGCGCCGTCGGG 0.771 3 3 --- --- --- --- PASS VPS13D 55187 broad.mit.edu 37 1 12557583 12557583 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:12557583G>T uc001atv.2 + 68 12833 c.12692G>T c.(12691-12693)CGT>CTT p.R4231L VPS13D_uc001atw.2_Missense_Mutation_p.R4206L|VPS13D_uc001atx.2_Missense_Mutation_p.R3418L|VPS13D_uc009vnl.2_RNA|VPS13D_uc010obd.1_Missense_Mutation_p.R229L NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 4230 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CGGAAACCGCGTTGCTGCACG 0.507 6 47 --- --- --- --- PASS SPEN 23013 broad.mit.edu 37 1 16259730 16259730 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:16259730G>A uc001axk.1 + 11 7199 c.6995G>A c.(6994-6996)CGC>CAC p.R2332H SPEN_uc010obp.1_Missense_Mutation_p.R2291H NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 2332 RID.|Interaction with MSX2 (By similarity). interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GACAAAGGGCGCCAGAAAACA 0.502 4 46 --- --- --- --- PASS C1orf64 149563 broad.mit.edu 37 1 16332412 16332412 + Splice_Site SNP A T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:16332412A>T uc001axn.2 + 2 151 c.83_splice c.e2-2 p.G28_splice NM_178840 NP_849162 Q8NEQ6 CA064_HUMAN hypothetical protein LOC149563 breast(2) 2 Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649) CCTCTCTTCTAGGTGGGAAGC 0.398 66 200 --- --- --- --- PASS ATP13A2 23400 broad.mit.edu 37 1 17331277 17331277 + Silent SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:17331277C>A uc001baa.2 - 5 577 c.387G>T c.(385-387)CGG>CGT p.R129R ATP13A2_uc001bab.2_Silent_p.R129R|ATP13A2_uc001bac.2_Silent_p.R129R NM_022089 NP_071372 Q9NQ11 AT132_HUMAN ATPase type 13A2 isoform 1 129 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) CCGCCTGGCTCCGGCCATCCT 0.667 17 54 --- --- --- --- PASS PADI3 51702 broad.mit.edu 37 1 17594354 17594354 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:17594354G>T uc001bai.2 + 6 589 c.549G>T c.(547-549)ATG>ATT p.M183I NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 183 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(1)|breast(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TGTCTGTCATGGTCCTGCGGA 0.587 12 44 --- --- --- --- PASS PDIK1L 149420 broad.mit.edu 37 1 26448341 26448341 + Missense_Mutation SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:26448341C>T uc010oew.1 + 3 572 c.299C>T c.(298-300)TCA>TTA p.S100L PDIK1L_uc001blj.3_Missense_Mutation_p.S100L|PDIK1L_uc009vsb.2_Missense_Mutation_p.S100L NM_152835 NP_690048 Q8N165 PDK1L_HUMAN PDLIM1 interacting kinase 1 like 100 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity 0 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649) GTAGAAACTTCATTAAAAGGA 0.333 17 70 --- --- --- --- PASS BAI2 576 broad.mit.edu 37 1 32210249 32210249 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:32210249C>A uc001btn.2 - 5 1276 c.922G>T c.(922-924)GGC>TGC p.G308C BAI2_uc010ogo.1_Missense_Mutation_p.V5L|BAI2_uc010ogp.1_Missense_Mutation_p.V296L|BAI2_uc010ogq.1_Missense_Mutation_p.G308C|BAI2_uc001bto.2_Missense_Mutation_p.G308C|BAI2_uc001btq.1_Missense_Mutation_p.G296C|BAI2_uc010ogr.1_Missense_Mutation_p.V296L NM_001703 NP_001694 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 308 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1) 13 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) CCCGAGTTACCTGTCTGCGCC 0.627 7 11 --- --- --- --- PASS ZMYM1 79830 broad.mit.edu 37 1 35580552 35580552 + Missense_Mutation SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:35580552G>C uc001bym.2 + 11 3269 c.3121G>C c.(3121-3123)GAT>CAT p.D1041H ZMYM1_uc001byn.2_Missense_Mutation_p.D1041H|ZMYM1_uc010ohu.1_Missense_Mutation_p.D1022H|ZMYM1_uc001byo.2_Missense_Mutation_p.D681H|ZMYM1_uc009vut.2_Missense_Mutation_p.D966H NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM domain containing 1 1041 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CTTTGTCATAGATGATAGTTG 0.333 9 109 --- --- --- --- PASS KIAA0754 643314 broad.mit.edu 37 1 39877045 39877045 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:39877045G>T uc009vvt.1 + 1 1870 c.1108G>T c.(1108-1110)GCA>TCA p.A370S MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN hypothetical protein LOC643314 234 0 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGCAAACACAGCAGTGGTGGA 0.478 OREG0013393 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 62 --- --- --- --- PASS B4GALT2 8704 broad.mit.edu 37 1 44446880 44446880 + Silent SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:44446880G>A uc001clg.2 + 2 418 c.48G>A c.(46-48)GTG>GTA p.V16V B4GALT2_uc001clh.2_5'UTR|B4GALT2_uc010okl.1_Silent_p.V45V|B4GALT2_uc001cli.2_Silent_p.V16V NM_003780 NP_003771 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 16 Helical; Signal-anchor for type II membrane protein; (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) GCAAGGCTGTGCTCCTTCTCT 0.687 6 36 --- --- --- --- PASS KLF17 128209 broad.mit.edu 37 1 44595240 44595240 + Silent SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:44595240C>T uc001clp.2 + 2 355 c.297C>T c.(295-297)AGC>AGT p.S99S KLF17_uc009vxf.1_Silent_p.S62S NM_173484 NP_775755 Q5JT82 KLF17_HUMAN zinc finger protein 393 99 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) GTGGTATGAGCTACTGCCCCC 0.557 12 57 --- --- --- --- PASS MAST2 23139 broad.mit.edu 37 1 46485316 46485316 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:46485316G>A uc001cov.2 + 11 1520 c.1237G>A c.(1237-1239)GTG>ATG p.V413M MAST2_uc001cow.2_Missense_Mutation_p.V413M|MAST2_uc001coy.1_Intron|MAST2_uc001coz.1_Missense_Mutation_p.V298M|MAST2_uc009vya.2_Missense_Mutation_p.V335M|MAST2_uc001cpa.2_RNA NM_015112 NP_055927 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 413 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity ovary(5)|lung(3)|stomach(2)|breast(1) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) GATGCAGCTGGTGAAAAAGCT 0.507 11 38 --- --- --- --- PASS PRKAA2 5563 broad.mit.edu 37 1 57159485 57159485 + Missense_Mutation SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:57159485G>C uc001cyk.3 + 5 594 c.523G>C c.(523-525)GGA>CGA p.G175R NM_006252 NP_006243 P54646 AAPK2_HUMAN AMP-activated protein kinase alpha 2 catalytic 175 Protein kinase. carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(4)|ovary(1)|stomach(1) 6 AACTAGTTGCGGATCTCCAAA 0.308 16 80 --- --- --- --- PASS LRRIQ3 127255 broad.mit.edu 37 1 74648457 74648457 + Missense_Mutation SNP T A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:74648457T>A uc001dfy.3 - 3 530 c.338A>T c.(337-339)AAG>ATG p.K113M LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 113 LRR 3. ovary(2) 2 ACATATATTCTTTAACTTTGC 0.333 14 49 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75038038 75038038 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:75038038G>A uc001dgg.2 - 14 3575 c.3356C>T c.(3355-3357)CCA>CTA p.P1119L NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1119 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CATTTCATTTGGGGGAGCTTT 0.443 50 60 --- --- --- --- PASS MCOLN2 255231 broad.mit.edu 37 1 85412758 85412758 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:85412758C>A uc001dkm.2 - 7 1046 c.805G>T c.(805-807)GCC>TCC p.A269S MCOLN2_uc001dkn.2_RNA NM_153259 NP_694991 Q8IZK6 MCLN2_HUMAN mucolipin 2 269 integral to membrane ion channel activity ovary(3)|upper_aerodigestive_tract(1) 4 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) TCAATTTTGGCATCACTGTCA 0.313 30 58 --- --- --- --- PASS MCOLN3 55283 broad.mit.edu 37 1 85487781 85487781 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:85487781C>A uc001dkp.2 - 11 1385 c.1292G>T c.(1291-1293)TGG>TTG p.W431L MCOLN3_uc001dko.2_Missense_Mutation_p.W50L|MCOLN3_uc001dkq.2_Missense_Mutation_p.W375L NM_018298 NP_060768 Q8TDD5 MCLN3_HUMAN mucolipin 3 431 Helical; (Potential). integral to membrane ion channel activity skin(1) 1 all cancers(265;0.00957)|Epithelial(280;0.0254) CAGCACGATCCATCCACAGAA 0.453 15 86 --- --- --- --- PASS TGFBR3 7049 broad.mit.edu 37 1 92178020 92178020 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:92178020C>A uc001doh.2 - 13 2412 c.1946G>T c.(1945-1947)AGG>ATG p.R649M TGFBR3_uc009wde.2_Intron|TGFBR3_uc010osy.1_Missense_Mutation_p.R607M|TGFBR3_uc001doi.2_Missense_Mutation_p.R648M|TGFBR3_uc001doj.2_Missense_Mutation_p.R648M NM_003243 NP_003234 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 649 ZP.|Extracellular (Potential). BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding ovary(3) 3 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) ATGAGACATCCTATCAGGGTT 0.403 16 55 --- --- --- --- PASS DNTTIP2 30836 broad.mit.edu 37 1 94342030 94342030 + Silent SNP T A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:94342030T>A uc001dqf.2 - 2 1499 c.1461A>T c.(1459-1461)GCA>GCT p.A487A DNTTIP2_uc010otm.1_RNA|DNTTIP2_uc009wdo.1_Silent_p.A282A NM_014597 NP_055412 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, 487 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) TTACAAACAATGCATTGTCAC 0.358 23 34 --- --- --- --- PASS VCAM1 7412 broad.mit.edu 37 1 101200237 101200237 + Missense_Mutation SNP G T T rs146573744 TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:101200237G>T uc001dti.2 + 8 2092 c.1972G>T c.(1972-1974)GCC>TCC p.A658S VCAM1_uc001dtj.2_Missense_Mutation_p.A566S|VCAM1_uc010ouj.1_Missense_Mutation_p.A596S NM_001078 NP_001069 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 isoform a 658 Ig-like C2-type 7.|Extracellular (Potential). heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(1) 1 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) CATCCGAAAGGCCCAGTTGAA 0.388 41 38 --- --- --- --- PASS GNAI3 2773 broad.mit.edu 37 1 110134722 110134722 + Missense_Mutation SNP A G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:110134722A>G uc001dxz.2 + 8 1089 c.932A>G c.(931-933)AAC>AGC p.N311S NM_006496 NP_006487 P08754 GNAI3_HUMAN guanine nucleotide binding protein (G protein), 311 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity ovary(1) 1 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237) GAAGATCTGAACAGAAGAAAA 0.403 13 50 --- --- --- --- PASS WNT2B 7482 broad.mit.edu 37 1 113058889 113058889 + Missense_Mutation SNP T A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:113058889T>A uc001ecb.2 + 3 1046 c.531T>A c.(529-531)CAT>CAA p.H177Q WNT2B_uc001eca.2_Missense_Mutation_p.H158Q|WNT2B_uc009wgg.2_Missense_Mutation_p.H85Q NM_024494 NP_078613 Q93097 WNT2B_HUMAN wingless-type MMTV integration site family, 177 chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding|signal transducer activity ovary(2)|breast(2)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GCCGACACCATGACCAGCGTG 0.582 20 73 --- --- --- --- PASS CASQ2 845 broad.mit.edu 37 1 116280898 116280898 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:116280898C>A uc001efx.3 - 4 743 c.479G>T c.(478-480)CGC>CTC p.R160L CASQ2_uc010owu.1_Intron NM_001232 NP_001223 O14958 CASQ2_HUMAN cardiac calsequestrin 2 precursor 160 heart development|striated muscle contraction sarcoplasmic reticulum lumen calcium ion binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) GTCTTCAATGCGTTCGAAGGC 0.448 30 128 --- --- --- --- PASS ITGA10 8515 broad.mit.edu 37 1 145538010 145538010 + Missense_Mutation SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:145538010G>C uc001eoa.2 + 22 2765 c.2689G>C c.(2689-2691)GAG>CAG p.E897Q NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.E766Q|ITGA10_uc009wiw.2_Missense_Mutation_p.E754Q|ITGA10_uc010oyw.1_Missense_Mutation_p.E842Q NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 897 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCTAGAGTTTGAGTTTAGCTG 0.537 34 249 --- --- --- --- PASS ARHGEF2 9181 broad.mit.edu 37 1 155920118 155920118 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:155920118G>T uc001fmt.2 - 21 2977 c.2859C>A c.(2857-2859)AGC>AGA p.S953R ARHGEF2_uc001fmq.2_Missense_Mutation_p.S191R|ARHGEF2_uc001fmr.2_Missense_Mutation_p.S925R|ARHGEF2_uc001fms.2_Missense_Mutation_p.S952R|ARHGEF2_uc001fmu.2_Missense_Mutation_p.S997R NM_001162383 NP_001155855 Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor 2 953 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding ovary(1) 1 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) GAGACAGACGGCTGCTACCTT 0.627 46 56 --- --- --- --- PASS IQGAP3 128239 broad.mit.edu 37 1 156499987 156499987 + Silent SNP C A A rs139798063 TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:156499987C>A uc001fpf.2 - 34 4389 c.4314G>T c.(4312-4314)CGG>CGT p.R1438R NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1438 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCAGGACGCGCCGCTGCTTCT 0.642 4 3 --- --- --- --- PASS ARHGEF11 9826 broad.mit.edu 37 1 156947996 156947996 + Silent SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:156947996C>T uc001fqo.2 - 6 1550 c.510G>A c.(508-510)CAG>CAA p.Q170Q ARHGEF11_uc001fqn.2_Silent_p.Q170Q NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 170 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GGATTATTACCTGCAGAGGTT 0.542 17 9 --- --- --- --- PASS IFI16 3428 broad.mit.edu 37 1 158985664 158985664 + Missense_Mutation SNP A C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:158985664A>C uc001ftf.1 + 4 875 c.268A>C c.(268-270)AAA>CAA p.K90Q IFI16_uc001ftg.2_Missense_Mutation_p.K90Q|IFI16_uc010pis.1_Missense_Mutation_p.K90Q NM_005531 NP_005522 Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 90 Lys-rich. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) TATTCCAGTAAAAGGACCAGC 0.433 15 20 --- --- --- --- PASS OR10J5 127385 broad.mit.edu 37 1 159505223 159505223 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:159505223G>T uc010piw.1 - 1 575 c.575C>A c.(574-576)ACT>AAT p.T192N NM_001004469 NP_001004469 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, 192 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_hematologic(112;0.0429) CTCATTGATAGTGGTATCAAT 0.388 17 12 --- --- --- --- PASS NOS1AP 9722 broad.mit.edu 37 1 162335298 162335298 + Silent SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:162335298C>T uc001gbv.2 + 9 1431 c.1044C>T c.(1042-1044)CAC>CAT p.H348H NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Silent_p.H343H|NOS1AP_uc009wut.1_Silent_p.H53H NM_014697 NP_055512 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor 348 Potential. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding lung(2)|upper_aerodigestive_tract(1) 3 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) TGCTCCAGCACATCTCCCTGC 0.602 26 22 --- --- --- --- PASS SFT2D2 375035 broad.mit.edu 37 1 168208375 168208375 + Silent SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:168208375C>T uc001gfi.3 + 7 483 c.420C>T c.(418-420)AGC>AGT p.S140S TBX19_uc001gfj.3_Intron NM_199344 NP_955376 O95562 SFT2B_HUMAN SFT2 domain containing 2 140 Helical; Name=4; (Potential). protein transport|vesicle-mediated transport integral to membrane skin(1) 1 all_hematologic(923;0.215) ATAGGTACAGCCTTTCCTTCA 0.373 39 48 --- --- --- --- PASS C1orf114 57821 broad.mit.edu 37 1 169391178 169391178 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:169391178G>T uc001gga.1 - 3 659 c.491C>A c.(490-492)CCT>CAT p.P164H C1orf114_uc001gfz.1_Missense_Mutation_p.P164H|C1orf114_uc009wvq.1_Missense_Mutation_p.P164H|C1orf114_uc001ggb.2_Missense_Mutation_p.P164H|C1orf114_uc001ggc.1_Missense_Mutation_p.P164H NM_021179 NP_067002 Q5TID7 CA114_HUMAN hypothetical protein LOC57821 164 0 all_hematologic(923;0.208) TTCTAGTGGAGGAACTTCCAA 0.338 32 29 --- --- --- --- PASS FMO4 2329 broad.mit.edu 37 1 171292329 171292329 + Nonsense_Mutation SNP A T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:171292329A>T uc001gho.2 + 4 536 c.319A>T c.(319-321)AAG>TAG p.K107* NM_002022 NP_002013 P31512 FMO4_HUMAN flavin containing monooxygenase 4 107 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding kidney(2)|skin(1) 3 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) CATTCAGTTTAAGGTAAGATA 0.338 19 18 --- --- --- --- PASS TDRD5 163589 broad.mit.edu 37 1 179561940 179561940 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:179561940G>T uc001gnf.1 + 2 440 c.190G>T c.(190-192)GTT>TTT p.V64F TDRD5_uc010pnp.1_Missense_Mutation_p.V64F|uc010pno.1_5'Flank NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 64 Lotus/OST-HTH 1. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 GCCTGATGTTGTTCGTGTCTG 0.428 23 45 --- --- --- --- PASS FAM5C 339479 broad.mit.edu 37 1 190067840 190067840 + Missense_Mutation SNP A T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:190067840A>T uc001gse.1 - 8 1841 c.1609T>A c.(1609-1611)TTG>ATG p.L537M FAM5C_uc010pot.1_Missense_Mutation_p.L435M NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 537 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TTGCTCTTCAAGGTGAGGAGC 0.453 19 69 --- --- --- --- PASS OPTC 26254 broad.mit.edu 37 1 203472730 203472730 + Missense_Mutation SNP A C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:203472730A>C uc001gzu.1 + 7 997 c.881A>C c.(880-882)CAC>CCC p.H294P NM_014359 NP_055174 Q9UBM4 OPT_HUMAN opticin precursor 294 proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding 0 BRCA - Breast invasive adenocarcinoma(75;0.109) CCCGAGGAGCACAAACACACC 0.592 13 39 --- --- --- --- PASS FLVCR1 28982 broad.mit.edu 37 1 213046038 213046038 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:213046038G>A uc001hjt.2 + 3 1100 c.902G>A c.(901-903)CGG>CAG p.R301Q NM_014053 NP_054772 Q9Y5Y0 FLVC1_HUMAN feline leukemia virus subgroup C cellular 301 cell death|cellular iron ion homeostasis|heme export|transmembrane transport integral to plasma membrane heme transporter activity|protein binding|receptor activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11) GAAAAACCTCGGTATCCACCA 0.313 30 11 --- --- --- --- PASS MOSC1 64757 broad.mit.edu 37 1 220971262 220971262 + Missense_Mutation SNP C G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:220971262C>G uc001hms.2 + 4 907 c.659C>G c.(658-660)TCG>TGG p.S220W MOSC1_uc001hmt.2_Missense_Mutation_p.S220W NM_022746 NP_073583 Q5VT66 MOSC1_HUMAN MOCO sulphurase C-terminal domain containing 1 220 MOSC. molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding 0 GBM - Glioblastoma multiforme(131;0.0358) TCTGAGGCGTCGCTGGCGGAT 0.438 15 67 --- --- --- --- PASS TRIM11 81559 broad.mit.edu 37 1 228582761 228582761 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:228582761C>A uc001hss.2 - 6 1307 c.1052G>T c.(1051-1053)CGC>CTC p.R351L TRIM11_uc010pvx.1_Missense_Mutation_p.R350L NM_145214 NP_660215 Q96F44 TRI11_HUMAN tripartite motif-containing 11 351 B30.2/SPRY. response to virus cytoplasm|nucleus protein binding|zinc ion binding lung(3)|ovary(1) 4 Prostate(94;0.0724) CCAGCTGGTGCGGTCCCCAAC 0.687 25 13 --- --- --- --- PASS NUP133 55746 broad.mit.edu 37 1 229613401 229613401 + Missense_Mutation SNP C G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:229613401C>G uc001htn.2 - 13 1791 c.1699G>C c.(1699-1701)GAC>CAC p.D567H NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 567 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) TCCATCAGGTCTACACTGATT 0.448 17 9 --- --- --- --- PASS AKT3 10000 broad.mit.edu 37 1 243858999 243858999 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:243858999C>A uc001iab.1 - 2 147 c.66G>T c.(64-66)TGG>TGT p.W22C AKT3_uc001hzz.1_Missense_Mutation_p.W22C NM_005465 NP_005456 Q9Y243 AKT3_HUMAN AKT3 kinase isoform 1 22 PH. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) ATCTTGGCCTCCAGTTTTTTA 0.343 22 13 --- --- --- --- PASS OR2B11 127623 broad.mit.edu 37 1 247615256 247615256 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:247615256C>A uc010pyx.1 - 1 29 c.29G>T c.(28-30)GGG>GTG p.G10V NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 10 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) AGGGGAGTCCCCTAAGAAGCT 0.483 15 21 --- --- --- --- PASS OR2T1 26696 broad.mit.edu 37 1 248570299 248570299 + Missense_Mutation SNP T C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:248570299T>C uc010pzm.1 + 1 1004 c.1004T>C c.(1003-1005)CTG>CCG p.L335P NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 335 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(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) ACACCCATGCTGAACCCCCTC 0.532 32 122 --- --- --- --- PASS SNTG2 54221 broad.mit.edu 37 2 1079263 1079263 + Silent SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:1079263G>T uc002qwq.2 + 2 260 c.132G>T c.(130-132)CGG>CGT p.R44R SNTG2_uc002qwp.2_RNA|SNTG2_uc010ewi.2_Silent_p.R44R NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 44 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) ATGACATCCGGCTGAAGCTGA 0.473 14 45 --- --- --- --- PASS SNTG2 54221 broad.mit.edu 37 2 1251115 1251115 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:1251115G>T uc002qwq.2 + 12 1033 c.905G>T c.(904-906)TGG>TTG p.W302L SNTG2_uc010ewi.2_Missense_Mutation_p.W175L NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 302 PH. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CATATGGGGTGGGTAAATGAG 0.502 8 20 --- --- --- --- PASS KLF11 8462 broad.mit.edu 37 2 10188590 10188590 + Missense_Mutation SNP A T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:10188590A>T uc002raf.1 + 3 1288 c.1126A>T c.(1126-1128)ATC>TTC p.I376F KLF11_uc010yjc.1_Missense_Mutation_p.I359F NM_003597 NP_003588 O14901 KLF11_HUMAN Kruppel-like factor 11 376 apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle nucleus sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228) TCCAGTGTTCATCACCTCTAG 0.572 OREG0014425 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 61 --- --- --- --- PASS NTSR2 23620 broad.mit.edu 37 2 11802343 11802343 + Silent SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:11802343C>A uc002rbq.3 - 2 722 c.648G>T c.(646-648)GTG>GTT p.V216V NM_012344 NP_036476 O95665 NTR2_HUMAN neurotensin receptor 2 216 Extracellular (Potential). sensory perception integral to plasma membrane 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) CCAAGGGGAGCACGAAGGACA 0.642 24 90 --- --- --- --- PASS VSNL1 7447 broad.mit.edu 37 2 17773402 17773402 + Nonsense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:17773402G>T uc002rcm.2 + 2 445 c.61G>T c.(61-63)GAG>TAG p.E21* NM_003385 NP_003376 P62760 VISL1_HUMAN visinin-like 1 21 calcium ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GAAGAGCACAGAGTTTAATGA 0.458 27 52 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21229833 21229833 + Nonsense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:21229833C>A uc002red.2 - 26 10035 c.9907G>T c.(9907-9909)GAG>TAG p.E3303* NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3303 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) ACTGGCAGCTCTAATGATGGC 0.443 17 49 --- --- --- --- PASS RAB10 10890 broad.mit.edu 37 2 26350784 26350784 + Silent SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:26350784G>A uc002rgv.2 + 5 1232 c.483G>A c.(481-483)AAG>AAA p.K161K NM_016131 NP_057215 P61026 RAB10_HUMAN ras-related GTP-binding protein RAB10 161 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|protein binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACATCGAAAAGGCGTTCCTCA 0.348 21 64 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32820204 32820204 + Silent SNP A G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:32820204A>G uc010ezu.2 + 68 13739 c.13605A>G c.(13603-13605)TTA>TTG p.L4535L NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4535 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TGAAGAAATTACAGTTTGGTA 0.303 5 8 --- --- --- --- PASS CALM2 805 broad.mit.edu 37 2 47388885 47388885 + Missense_Mutation SNP C G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:47388885C>G uc002rvt.2 - 5 556 c.398G>C c.(397-399)GGT>GCT p.G133A C2orf61_uc010fbd.2_Intron|CALM2_uc010fbe.2_RNA NM_001743 NP_001734 P62158 CALM_HUMAN calmodulin 2 133 4.|EF-hand 4. activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding p.0?(2) 0 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069) TTGACCATCACCATCAATATC 0.383 13 55 --- --- --- --- PASS VRK2 7444 broad.mit.edu 37 2 58312046 58312046 + Missense_Mutation SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:58312046G>C uc002rzo.2 + 7 962 c.217G>C c.(217-219)GAA>CAA p.E73Q VRK2_uc010fcb.2_Missense_Mutation_p.E73Q|VRK2_uc002rzs.2_Missense_Mutation_p.E73Q|VRK2_uc002rzr.2_Missense_Mutation_p.E73Q|VRK2_uc010fcc.2_Intron|VRK2_uc002rzv.2_Missense_Mutation_p.E73Q|VRK2_uc010fcd.2_Missense_Mutation_p.E50Q|VRK2_uc002rzp.2_Missense_Mutation_p.E73Q|VRK2_uc010ypg.1_Missense_Mutation_p.E73Q|VRK2_uc002rzq.2_Missense_Mutation_p.E73Q|VRK2_uc002rzu.2_Missense_Mutation_p.E73Q|VRK2_uc002rzt.2_5'UTR|VRK2_uc010yph.1_5'Flank NM_001130482 NP_001123954 Q86Y07 VRK2_HUMAN vaccinia related kinase 2 isoform 2 73 Protein kinase. integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 GTTATTTTCAGAACTTAAATT 0.279 9 17 --- --- --- --- PASS C2orf86 51057 broad.mit.edu 37 2 63609202 63609202 + Missense_Mutation SNP A G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:63609202A>G uc002sch.2 - 11 1909 c.1463T>C c.(1462-1464)CTG>CCG p.L488P C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.L329P|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.L296P|C2orf86_uc002sci.1_Missense_Mutation_p.L464P NM_015910 NP_056994 O95876 FRITZ_HUMAN hypothetical protein LOC51057 isoform 2 488 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane 0 GATGTCTATCAGGCCCAGCTG 0.408 10 19 --- --- --- --- PASS MDH1 4190 broad.mit.edu 37 2 63824696 63824696 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:63824696G>T uc002scj.1 + 4 419 c.363G>T c.(361-363)AAG>AAT p.K121N MDH1_uc010ypv.1_Missense_Mutation_p.K139N|MDH1_uc010ypw.1_Missense_Mutation_p.K26N NM_005917 NP_005908 P40925 MDHC_HUMAN cytosolic malate dehydrogenase 121 gluconeogenesis|tricarboxylic acid cycle centrosome|cytosol L-malate dehydrogenase activity|malic enzyme activity kidney(2) 2 NADH(DB00157) AATACGCCAAGAAGTCAGTTA 0.363 8 25 --- --- --- --- PASS DYSF 8291 broad.mit.edu 37 2 71817372 71817372 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:71817372G>T uc002sie.2 + 32 3850 c.3474G>T c.(3472-3474)ATG>ATT p.M1158I DYSF_uc010feg.2_Missense_Mutation_p.M1189I|DYSF_uc010feh.2_Missense_Mutation_p.M1144I|DYSF_uc002sig.3_Missense_Mutation_p.M1144I|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.M1158I|DYSF_uc010fef.2_Missense_Mutation_p.M1175I|DYSF_uc010fei.2_Missense_Mutation_p.M1175I|DYSF_uc010fek.2_Missense_Mutation_p.M1176I|DYSF_uc010fej.2_Missense_Mutation_p.M1145I|DYSF_uc010fel.2_Missense_Mutation_p.M1145I|DYSF_uc010feo.2_Missense_Mutation_p.M1190I|DYSF_uc010fem.2_Missense_Mutation_p.M1159I|DYSF_uc010fen.2_Missense_Mutation_p.M1176I|DYSF_uc002sif.2_Missense_Mutation_p.M1159I|DYSF_uc010yqy.1_Missense_Mutation_p.M39I NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1158 Cytoplasmic (Potential).|C2 4. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 GCTGCTACATGTACCAGGCCC 0.572 15 39 --- --- --- --- PASS LRRTM4 80059 broad.mit.edu 37 2 77746335 77746335 + Missense_Mutation SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:77746335G>C uc002snr.2 - 3 1075 c.660C>G c.(658-660)ATC>ATG p.I220M LRRTM4_uc002snq.2_Missense_Mutation_p.I220M|LRRTM4_uc002sns.2_Missense_Mutation_p.I220M|LRRTM4_uc002snt.2_Missense_Mutation_p.I221M NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 220 LRR 7.|Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) GAGCAAAGTTGATCTTGGAAA 0.448 6 29 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80772182 80772182 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:80772182G>T uc010ysh.1 + 9 1371 c.1366G>T c.(1366-1368)GAC>TAC p.D456Y CTNNA2_uc010yse.1_Missense_Mutation_p.D456Y|CTNNA2_uc010ysf.1_Missense_Mutation_p.D456Y|CTNNA2_uc010ysg.1_Missense_Mutation_p.D456Y|CTNNA2_uc010ysi.1_Missense_Mutation_p.D88Y NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 456 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 CACCCAGATTGACAGCCTGTG 0.478 8 23 --- --- --- --- PASS SH2D6 284948 broad.mit.edu 37 2 85663660 85663660 + Silent SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:85663660C>T uc002spq.2 + 4 644 c.483C>T c.(481-483)AGC>AGT p.S161S SH2D6_uc002spo.2_RNA|SH2D6_uc002spp.2_RNA NM_198482 NP_940884 Q7Z4S9 SH2D6_HUMAN SH2 domain containing 6 161 SH2. central_nervous_system(1) 1 ACAGACACAGCGGCAGCCGGG 0.642 8 31 --- --- --- --- PASS PROM2 150696 broad.mit.edu 37 2 95943263 95943263 + Silent SNP A G G rs139763415 byFrequency TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:95943263A>G uc002suh.1 + 7 1057 c.924A>G c.(922-924)GCA>GCG p.A308A PROM2_uc002sui.2_Silent_p.A308A|PROM2_uc002suj.2_Intron|PROM2_uc002suk.2_Silent_p.A308A|PROM2_uc002sul.2_Intron NM_144707 NP_653308 Q8N271 PROM2_HUMAN prominin 2 precursor 308 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane ovary(1) 1 GAGATTGTGCAGGGGCCCTGA 0.677 11 18 --- --- --- --- PASS NCKAP5 344148 broad.mit.edu 37 2 133540314 133540314 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:133540314C>A uc002ttp.2 - 14 4444 c.4070G>T c.(4069-4071)AGC>ATC p.S1357I NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1357 protein binding 0 ACTGCTGAAGCTGCCTGAGCT 0.617 13 13 --- --- --- --- PASS THSD7B 80731 broad.mit.edu 37 2 137814067 137814067 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:137814067G>T uc002tva.1 + 2 124 c.124G>T c.(124-126)GGG>TGG p.G42W THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_5'UTR NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) TCATGTTGACGGGTGGACAAG 0.527 14 16 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152520222 152520222 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:152520222G>A uc010fnx.2 - 45 5794 c.5603C>T c.(5602-5604)TCC>TTC p.S1868F NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 1868 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) GGTGTGGAAGGAGGTCTTGGA 0.537 9 21 --- --- --- --- PASS GALNT13 114805 broad.mit.edu 37 2 155098644 155098644 + Missense_Mutation SNP T A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:155098644T>A uc002tyr.3 + 5 980 c.413T>A c.(412-414)GTG>GAG p.V138E GALNT13_uc002tyt.3_Missense_Mutation_p.V138E|GALNT13_uc010foc.1_5'UTR NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 138 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 GTTTACAGTGTGATAAATCGT 0.358 17 27 --- --- --- --- PASS FIGN 55137 broad.mit.edu 37 2 164467453 164467453 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:164467453C>A uc002uck.1 - 3 1200 c.889G>T c.(889-891)GGC>TGC p.G297C NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 297 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 AAACCATGGCCCTGGTAGGTG 0.577 23 31 --- --- --- --- PASS SCN3A 6328 broad.mit.edu 37 2 165947258 165947258 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:165947258G>T uc002ucx.2 - 28 5897 c.5405C>A c.(5404-5406)CCC>CAC p.P1802H SCN3A_uc010zcy.1_Missense_Mutation_p.P285H|SCN3A_uc002ucy.2_Missense_Mutation_p.P1753H|SCN3A_uc002ucz.2_Missense_Mutation_p.P1753H NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 1802 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) GGTCGCATCGGGATCAAACTT 0.453 29 28 --- --- --- --- PASS SCN2A 6326 broad.mit.edu 37 2 166166936 166166936 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:166166936G>T uc002udc.2 + 7 1091 c.801G>T c.(799-801)TTG>TTT p.L267F SCN2A_uc002udd.2_Missense_Mutation_p.L267F|SCN2A_uc002ude.2_Missense_Mutation_p.L267F NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 267 I.|Helical; Name=S5 of repeat I; (Potential). myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) TAATAGGATTGCAGTTGTTCA 0.408 42 60 --- --- --- --- PASS SCN7A 6332 broad.mit.edu 37 2 167262800 167262800 + Missense_Mutation SNP T G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:167262800T>G uc002udu.1 - 25 4466 c.4339A>C c.(4339-4341)AAA>CAA p.K1447Q NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 1447 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 TCAGACCATTTACTGTTGAAA 0.383 35 43 --- --- --- --- PASS PPIG 9360 broad.mit.edu 37 2 170488342 170488342 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:170488342G>T uc002uez.2 + 11 1048 c.828G>T c.(826-828)GAG>GAT p.E276D PPIG_uc010fpx.2_Missense_Mutation_p.E261D|PPIG_uc010fpy.2_Missense_Mutation_p.E269D|PPIG_uc002ufa.2_Missense_Mutation_p.E276D|PPIG_uc002ufb.2_Missense_Mutation_p.E276D|PPIG_uc002ufd.2_Missense_Mutation_p.E273D NM_004792 NP_004783 Q13427 PPIG_HUMAN peptidylprolyl isomerase G 276 protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|central_nervous_system(1) 3 L-Proline(DB00172) GTCCAGAAGAGATCCCTCCTA 0.323 24 31 --- --- --- --- PASS PDE11A 50940 broad.mit.edu 37 2 178762881 178762881 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:178762881G>T uc002ulq.2 - 4 1524 c.1206C>A c.(1204-1206)GAC>GAA p.D402E PDE11A_uc002ulr.2_Missense_Mutation_p.D152E|PDE11A_uc002uls.1_Missense_Mutation_p.D44E|PDE11A_uc002ult.1_Missense_Mutation_p.D152E|PDE11A_uc002ulu.1_Missense_Mutation_p.D44E NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 402 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) TTTTCTCCAGGTCAGTCTGTT 0.383 Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 12 25 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179613060 179613060 + Silent SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:179613060C>T uc002unb.2 - 46 14291 c.14067G>A c.(14065-14067)GAG>GAA p.E4689E TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TACTACTTTTCTCCACCATAG 0.313 39 37 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196723359 196723359 + Nonsense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:196723359C>A uc002utj.3 - 43 8007 c.7906G>T c.(7906-7908)GAA>TAA p.E2636* NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2636 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TTGGCAACTTCTACAGACTCT 0.398 32 30 --- --- --- --- PASS GTF3C3 9330 broad.mit.edu 37 2 197631415 197631415 + Silent SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:197631415G>A uc002uts.2 - 17 2502 c.2412C>T c.(2410-2412)CTC>CTT p.L804L GTF3C3_uc010zgu.1_Silent_p.L775L NM_012086 NP_036218 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 804 transcription factor TFIIIC complex DNA binding|protein binding ovary(3)|breast(3)|pancreas(1) 7 CACGTAAACTGAGGTATCGAT 0.333 18 20 --- --- --- --- PASS MPP4 58538 broad.mit.edu 37 2 202519560 202519560 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:202519560G>T uc002uyk.3 - 18 1589 c.1381C>A c.(1381-1383)CAC>AAC p.H461N MPP4_uc002uyi.3_Missense_Mutation_p.H79N|MPP4_uc010ftj.2_Missense_Mutation_p.H454N|MPP4_uc010zhq.1_Missense_Mutation_p.H430N|MPP4_uc010zhr.1_Missense_Mutation_p.H437N|MPP4_uc010zhs.1_Missense_Mutation_p.H386N|MPP4_uc002uyj.3_Missense_Mutation_p.H426N|MPP4_uc010zht.1_Missense_Mutation_p.H403N|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.H417N NM_033066 NP_149055 Q96JB8 MPP4_HUMAN membrane protein, palmitoylated 4 461 Guanylate kinase-like. cytoplasm protein binding 0 CTAAACATACGTGGCACAGCA 0.358 3 1 --- --- --- --- PASS PARD3B 117583 broad.mit.edu 37 2 206165406 206165406 + Missense_Mutation SNP A T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:206165406A>T uc002var.1 + 17 2545 c.2338A>T c.(2338-2340)AGC>TGC p.S780C PARD3B_uc010fub.1_Missense_Mutation_p.S780C|PARD3B_uc002vao.1_Missense_Mutation_p.S780C|PARD3B_uc002vap.1_Missense_Mutation_p.S718C|PARD3B_uc002vaq.1_Intron NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 780 cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CTGCAATGAGAGCTTTAGAGC 0.498 26 30 --- --- --- --- PASS INO80D 54891 broad.mit.edu 37 2 206927738 206927738 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:206927738C>A uc002vaz.3 - 3 408 c.3G>T c.(1-3)ATG>ATT p.M1I NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 1 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 TCCCTTCATACATCACGTGAC 0.428 5 7 --- --- --- --- PASS ABCA12 26154 broad.mit.edu 37 2 215840712 215840712 + Silent SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:215840712C>T uc002vew.2 - 34 5398 c.5178G>A c.(5176-5178)CTG>CTA p.L1726L ABCA12_uc002vev.2_Silent_p.L1408L|ABCA12_uc010zjn.1_Silent_p.L653L NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 1726 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) TGATCTTCTTCAGCAACAGTC 0.448 17 23 --- --- --- --- PASS DOCK10 55619 broad.mit.edu 37 2 225642886 225642886 + Missense_Mutation SNP T A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:225642886T>A uc010fwz.1 - 51 6010 c.5771A>T c.(5770-5772)GAC>GTC p.D1924V DOCK10_uc002vob.2_Missense_Mutation_p.D1918V|DOCK10_uc002voa.2_Missense_Mutation_p.D580V NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1924 DHR-2. GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CTTCACATTGTCTGCTCCAAA 0.353 4 17 --- --- --- --- PASS ALPP 250 broad.mit.edu 37 2 233246046 233246046 + Silent SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:233246046C>A uc002vsq.2 + 10 1443 c.1278C>A c.(1276-1278)GGC>GGA p.G426G ALPP_uc002vsr.2_RNA NM_001632 NP_001623 P05187 PPB1_HUMAN placental alkaline phosphatase preproprotein 426 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) TCAAGGACGGCGCCCGGCCGG 0.697 18 36 --- --- --- --- PASS CAPN10 11132 broad.mit.edu 37 2 241536337 241536337 + Missense_Mutation SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr2:241536337C>T uc002vzk.1 + 9 1905 c.1721C>T c.(1720-1722)CCC>CTC p.P574L CAPN10_uc002vzl.1_Intron|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Missense_Mutation_p.P446L|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_Intron|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron NM_023083 NP_075571 Q9HC96 CAN10_HUMAN calpain 10 isoform a 574 Domain III 2. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding ovary(3)|large_intestine(2)|lung(1) 6 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) GAGTTCCACCCCATCGGCTTC 0.642 8 18 --- --- --- --- PASS CHL1 10752 broad.mit.edu 37 3 391221 391221 + Missense_Mutation SNP T A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:391221T>A uc003bou.2 + 9 1251 c.980T>A c.(979-981)GTA>GAA p.V327E CHL1_uc003bot.2_Missense_Mutation_p.V343E|CHL1_uc003bow.1_Missense_Mutation_p.V327E|CHL1_uc011asi.1_Missense_Mutation_p.V343E NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 327 Ig-like C2-type 3.|Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CACGTTATAGTAGAAGGTACC 0.388 34 47 --- --- --- --- PASS CHL1 10752 broad.mit.edu 37 3 404903 404903 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:404903G>T uc003bou.2 + 13 1645 c.1374G>T c.(1372-1374)CAG>CAT p.Q458H CHL1_uc003bot.2_Missense_Mutation_p.Q474H|CHL1_uc003bow.1_Missense_Mutation_p.Q458H|CHL1_uc011asi.1_Missense_Mutation_p.Q474H NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 458 Ig-like C2-type 5.|Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TCCATAGGCAGAAGGTGGAAG 0.453 6 22 --- --- --- --- PASS CHL1 10752 broad.mit.edu 37 3 432834 432834 + Missense_Mutation SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:432834C>T uc003bou.2 + 21 3006 c.2735C>T c.(2734-2736)CCA>CTA p.P912L CHL1_uc003bot.2_Missense_Mutation_p.P928L|CHL1_uc003bow.1_Missense_Mutation_p.P912L|CHL1_uc011asi.1_Missense_Mutation_p.P928L NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 912 Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TTTCAAACACCAGAAGGAGGT 0.343 17 24 --- --- --- --- PASS GRM7 2917 broad.mit.edu 37 3 7494373 7494373 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:7494373G>T uc003bqm.2 + 6 1528 c.1254G>T c.(1252-1254)ATG>ATT p.M418I GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.M418I|GRM7_uc003bql.2_Missense_Mutation_p.M418I|GRM7_uc003bqn.1_Missense_Mutation_p.M1I|GRM7_uc010hch.1_5'UTR NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 418 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) TCTATGCTATGGCTCACGCCC 0.478 4 21 --- --- --- --- PASS RARB 5915 broad.mit.edu 37 3 25611395 25611395 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:25611395G>T uc011awl.1 + 4 682 c.616G>T c.(616-618)GGT>TGT p.G206C RARB_uc003cdi.1_Missense_Mutation_p.G87C|RARB_uc003cdh.2_Missense_Mutation_p.G199C NM_016152 NP_057236 P10826 RARB_HUMAN retinoic acid receptor, beta isoform 2 206 Ligand-binding. G -> A (in Ref. 2; CAA68398). embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|large_intestine(1)|pancreas(1) 3 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) CTGCCAGCTGGGTAAATACAC 0.448 15 28 --- --- --- --- PASS RPL14 9045 broad.mit.edu 37 3 40503622 40503622 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:40503622G>A uc003ckg.2 + 6 598 c.547G>A c.(547-549)GCC>ACC p.A183T RPL14_uc003ckh.2_Missense_Mutation_p.A183T|RPL14_uc003cki.2_Missense_Mutation_p.A134T NM_003973 NP_003964 P50914 RL14_HUMAN ribosomal protein L14 183 4 X 5 AA tandem repeats of Q-K-A-[PAS]-X.|1-3. endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome 0 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TGCCCAGAAAGCCACAGGCCA 0.448 6 8 --- --- --- --- PASS KIF9 64147 broad.mit.edu 37 3 47307259 47307259 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:47307259G>A uc010hjp.2 - 9 1481 c.877C>T c.(877-879)CGG>TGG p.R293W KIF9_uc003cqx.2_Missense_Mutation_p.R293W|KIF9_uc003cqy.2_Missense_Mutation_p.R293W|KIF9_uc011bat.1_RNA|KIF9_uc011bau.1_RNA NM_001134878 NP_001128350 Q9HAQ2 KIF9_HUMAN kinesin family member 9 isoform 2 293 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity skin(1) 1 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) TTGCACTGCCGAAAGGGGATG 0.577 4 40 --- --- --- --- PASS BSN 8927 broad.mit.edu 37 3 49662655 49662655 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:49662655G>T uc003cxe.3 + 2 586 c.472G>T c.(472-474)GTC>TTC p.V158F NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 158 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) ACCCTACTCCGTCCCTCAGAT 0.632 12 10 --- --- --- --- PASS PARP3 10039 broad.mit.edu 37 3 51980220 51980220 + Silent SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:51980220G>T uc003dby.2 + 9 1508 c.1137G>T c.(1135-1137)CGG>CGT p.R379R PARP3_uc003dbz.2_Silent_p.R386R NM_005485 NP_005476 Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 379 PARP catalytic. DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TGGGTAATCGGAAGCTGCTGT 0.592 13 21 --- --- --- --- PASS ERC2 26059 broad.mit.edu 37 3 55984525 55984525 + Missense_Mutation SNP C G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:55984525C>G uc003dhr.1 - 13 2587 c.2331G>C c.(2329-2331)AAG>AAC p.K777N ERC2_uc003dhq.1_RNA|ERC2_uc003dht.1_Missense_Mutation_p.K256N NM_015576 NP_056391 O15083 ERC2_HUMAN cytomatrix protein p110 777 Potential. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GAGCATTTTTCTTCTTTTCCA 0.438 4 46 --- --- --- --- PASS CADPS 8618 broad.mit.edu 37 3 62423866 62423866 + Silent SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:62423866G>T uc003dll.2 - 28 4050 c.3690C>A c.(3688-3690)GCC>GCA p.A1230A CADPS_uc003dlj.1_Silent_p.A185A|CADPS_uc003dlk.1_Silent_p.A678A|CADPS_uc003dlm.2_Silent_p.A1191A|CADPS_uc003dln.2_Silent_p.A1151A NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 1230 Mediates targeting and association with DCVs (By similarity). A -> P (in Ref. 6; AAA79701). exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) CGTAGGCGTCGGCCACGTCCA 0.448 8 15 --- --- --- --- PASS PDZRN3 23024 broad.mit.edu 37 3 73433323 73433323 + Silent SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:73433323C>T uc003dpl.1 - 10 2490 c.2394G>A c.(2392-2394)ACG>ACA p.T798T PDZRN3_uc011bgh.1_Silent_p.T455T|PDZRN3_uc010hoe.1_Silent_p.T496T|PDZRN3_uc011bgf.1_Silent_p.T515T|PDZRN3_uc011bgg.1_Silent_p.T518T NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 798 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CGTAGGCTTCCGTGGTCCCCA 0.652 15 20 --- --- --- --- PASS OR5H15 403274 broad.mit.edu 37 3 97888265 97888265 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:97888265G>A uc011bgu.1 + 1 722 c.722G>A c.(721-723)TGT>TAT p.C241Y NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, 241 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TTTTCCACCTGTGGAGCCCAT 0.423 16 48 --- --- --- --- PASS FILIP1L 11259 broad.mit.edu 37 3 99552094 99552094 + Silent SNP A T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:99552094A>T uc003dtm.2 - 6 3856 c.3393T>A c.(3391-3393)CTT>CTA p.L1131L C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc010hpf.2_Silent_p.L707L|FILIP1L_uc010hpg.2_Silent_p.L891L NM_182909 NP_878913 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like isoform 1 1131 cytoplasm|membrane|myosin complex|nucleus ovary(1) 1 GAGGCAGAAGAAGTGGTTCCA 0.343 6 28 --- --- --- --- PASS B4GALT4 8702 broad.mit.edu 37 3 118948703 118948703 + Missense_Mutation SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:118948703G>C uc003ecg.2 - 3 885 c.244C>G c.(244-246)CCT>GCT p.P82A B4GALT4_uc003ece.1_Missense_Mutation_p.P82A|B4GALT4_uc003ecf.2_RNA|B4GALT4_uc003ech.2_Missense_Mutation_p.P82A|B4GALT4_uc003eci.2_Missense_Mutation_p.P82A|B4GALT4_uc011biy.1_Intron NM_212543 NP_997708 O60513 B4GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 82 Lumenal (Potential). membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding|N-acetyllactosamine synthase activity 0 GBM - Glioblastoma multiforme(114;0.222) N-Acetyl-D-glucosamine(DB00141) CTGAGGTAAGGAGACACAGAA 0.323 7 30 --- --- --- --- PASS KALRN 8997 broad.mit.edu 37 3 124437893 124437893 + Missense_Mutation SNP T A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:124437893T>A uc003ehg.2 + 60 8664 c.8537T>A c.(8536-8538)TTT>TAT p.F2846Y KALRN_uc003ehk.2_Missense_Mutation_p.F1149Y NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2845 Protein kinase. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 AACCCTGAGTTTGCTGCCCCA 0.567 6 34 --- --- --- --- PASS KIAA1257 57501 broad.mit.edu 37 3 128712011 128712011 + Missense_Mutation SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:128712011G>C uc003elj.3 - 2 333 c.137C>G c.(136-138)TCT>TGT p.S46C KIAA1257_uc003elg.1_Missense_Mutation_p.S46C|KIAA1257_uc003eli.3_5'Flank NM_020741 NP_065792 Q9ULG3 K1257_HUMAN hypothetical protein LOC57501 46 0 GTCAGAGTCAGACTCCTGGGC 0.597 8 38 --- --- --- --- PASS KY 339855 broad.mit.edu 37 3 134322631 134322631 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:134322631G>T uc010hty.2 - 11 1838 c.1776C>A c.(1774-1776)AAC>AAA p.N592K KY_uc011blw.1_3'UTR|KY_uc011blx.1_Missense_Mutation_p.N571K NM_178554 NP_848649 Q8NBH2 KY_HUMAN kyphoscoliosis peptidase Error:Variant_position_missing_in_Q8NBH2_after_alignment cytoskeleton|Z disc peptidase activity ovary(2) 2 GGACATTCCGGTTGGCAGGAA 0.562 4 20 --- --- --- --- PASS SLC9A9 285195 broad.mit.edu 37 3 143412110 143412110 + Silent SNP A G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:143412110A>G uc003evn.2 - 5 755 c.573T>C c.(571-573)GCT>GCC p.A191A SLC9A9_uc011bnk.1_Silent_p.A65A NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 191 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 TCAGCTGGCCAGCATGTATCA 0.358 15 25 --- --- --- --- PASS PLCH1 23007 broad.mit.edu 37 3 155200017 155200017 + Silent SNP A G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:155200017A>G uc011bok.1 - 23 4099 c.3822T>C c.(3820-3822)GTT>GTC p.V1274V PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Silent_p.V1236V NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 1274 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TAGTTTCATAAACTGTGTTCG 0.478 19 99 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164700802 164700802 + Missense_Mutation SNP A T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:164700802A>T uc003fei.2 - 46 5297 c.5235T>A c.(5233-5235)TTT>TTA p.F1745L NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1745 Sucrase.|Lumenal. F -> C (in CSID). carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GGTTTAAATTAAATTGTACAG 0.224 HNSCC(35;0.089) 3 22 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164767661 164767661 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:164767661G>T uc003fei.2 - 14 1577 c.1515C>A c.(1513-1515)GAC>GAA p.D505E NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 505 Lumenal.|Isomaltase. Nucleophile. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CTTCATTCATGTCCTGAATGG 0.284 HNSCC(35;0.089) 10 29 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164780170 164780170 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:164780170G>T uc003fei.2 - 9 1071 c.1009C>A c.(1009-1011)CAG>AAG p.Q337K NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 337 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGTTGATACTGTTGAACTACT 0.323 HNSCC(35;0.089) 24 35 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164793779 164793779 + Nonsense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:164793779C>A uc003fei.2 - 2 84 c.22G>T c.(22-24)GGA>TGA p.G8* NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 8 Cytoplasmic. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ATTTCCAATCCACTAAATTTC 0.269 HNSCC(35;0.089) 14 36 --- --- --- --- PASS ZMAT3 64393 broad.mit.edu 37 3 178785487 178785487 + Silent SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:178785487C>A uc003fjg.2 - 2 313 c.54G>T c.(52-54)TCG>TCT p.S18S ZMAT3_uc010hxa.2_Silent_p.S18S|ZMAT3_uc003fji.2_Silent_p.S18S NM_022470 NP_071915 Q9HA38 ZMAT3_HUMAN p53 target zinc finger protein isoform 1 18 apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport nucleolus RNA binding|zinc ion binding ovary(2) 2 all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527) ACATAGGAGGCGAGGGTGAGG 0.572 15 95 --- --- --- --- PASS VPS8 23355 broad.mit.edu 37 3 184689483 184689483 + Silent SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:184689483G>T uc003fpb.1 + 39 3528 c.3357G>T c.(3355-3357)GTG>GTT p.V1119V VPS8_uc010hyd.1_Silent_p.V1029V|VPS8_uc010hye.1_Silent_p.V548V NM_015303 NP_056118 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog isoform b 1121 zinc ion binding ovary(1) 1 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) ATACTATGGTGGAGACCATTG 0.363 4 11 --- --- --- --- PASS VPS8 23355 broad.mit.edu 37 3 184689484 184689484 + Nonsense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:184689484G>T uc003fpb.1 + 39 3529 c.3358G>T c.(3358-3360)GAG>TAG p.E1120* VPS8_uc010hyd.1_Nonsense_Mutation_p.E1030*|VPS8_uc010hye.1_Nonsense_Mutation_p.E549* NM_015303 NP_056118 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog isoform b 1122 zinc ion binding ovary(1) 1 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) TACTATGGTGGAGACCATTGC 0.363 4 11 --- --- --- --- PASS BDH1 622 broad.mit.edu 37 3 197238900 197238900 + Missense_Mutation SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr3:197238900C>T uc003fxr.2 - 8 1300 c.898G>A c.(898-900)GAT>AAT p.D300N BDH1_uc003fxs.2_Missense_Mutation_p.D300N|BDH1_uc003fxt.2_Missense_Mutation_p.D213N|BDH1_uc003fxu.2_Missense_Mutation_p.D300N NM_203314 NP_976059 Q02338 BDH_HUMAN 3-hydroxybutyrate dehydrogenase, type 1 300 cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix 3-hydroxybutyrate dehydrogenase activity ovary(1) 1 all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437) Lung NSC(153;0.118) Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06) GBM - Glioblastoma multiforme(93;0.0977) NADH(DB00157) GTGACAGCATCGATGACAGGG 0.577 10 82 --- --- --- --- PASS ZNF595 152687 broad.mit.edu 37 4 86363 86363 + Missense_Mutation SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr4:86363G>C uc003fzv.1 + 6 1125 c.969G>C c.(967-969)CAG>CAC p.Q323H ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Missense_Mutation_p.Q91H|ZNF595_uc011but.1_Missense_Mutation_p.Q91H NM_182524 NP_872330 Q7Z3I0 Q7Z3I0_HUMAN zinc finger protein 595 323 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) CCTTTAGACAGTCCAGGAGCC 0.378 27 25 --- --- --- --- PASS PIGG 54872 broad.mit.edu 37 4 493149 493149 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr4:493149G>A uc003gak.3 + 1 161 c.25G>A c.(25-27)GCT>ACT p.A9T PIGG_uc003gaj.3_Missense_Mutation_p.A9T|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.A9T|PIGG_uc003gal.3_Intron|ZNF721_uc003gag.2_5'UTR|ZNF721_uc010ibe.2_5'UTR|ZNF721_uc003gah.1_RNA|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_5'UTR|PIGG_uc003gam.2_5'UTR|PIGG_uc003gan.2_5'UTR NM_001127178 NP_001120650 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, 9 Lumenal (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity central_nervous_system(2)|ovary(1)|skin(1) 4 CGGGACTTTCGCTACCTGTTG 0.662 5 11 --- --- --- --- PASS PIGG 54872 broad.mit.edu 37 4 499606 499606 + Missense_Mutation SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr4:499606G>C uc003gak.3 + 3 596 c.460G>C c.(460-462)GCT>CCT p.A154P PIGG_uc003gaj.3_Missense_Mutation_p.A154P|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Intron|PIGG_uc003gal.3_Missense_Mutation_p.A65P|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Missense_Mutation_p.A32P|PIGG_uc003gam.2_Missense_Mutation_p.A65P|PIGG_uc003gan.2_Missense_Mutation_p.A65P NM_001127178 NP_001120650 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, 154 Lumenal (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity central_nervous_system(2)|ovary(1)|skin(1) 4 AGCAAAAGCAGCTGGAAAAAG 0.433 14 50 --- --- --- --- PASS DHX15 1665 broad.mit.edu 37 4 24556484 24556484 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr4:24556484C>A uc003gqx.2 - 5 1112 c.944G>T c.(943-945)CGT>CTT p.R315L NM_001358 NP_001349 O43143 DHX15_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 15 315 mRNA processing U12-type spliceosomal complex ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity ovary(1) 1 Breast(46;0.0503) AGGATGTGTACGCCCAGGAAT 0.388 7 62 --- --- --- --- PASS ANAPC4 29945 broad.mit.edu 37 4 25391798 25391798 + Nonsense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr4:25391798G>T uc003gro.2 + 8 685 c.556G>T c.(556-558)GAG>TAG p.E186* ANAPC4_uc003grp.2_Nonsense_Mutation_p.E71*|ANAPC4_uc010iet.1_5'UTR|ANAPC4_uc010ieu.1_5'UTR NM_013367 NP_037499 Q9UJX5 APC4_HUMAN anaphase-promoting complex subunit 4 186 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity ovary(2)|large_intestine(1)|pancreas(1)|skin(1) 5 Breast(46;0.0503) TGGATTTATTGAGCTTTATGC 0.338 9 49 --- --- --- --- PASS PGM2 55276 broad.mit.edu 37 4 37841787 37841787 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr4:37841787G>A uc011byb.1 + 6 698 c.625G>A c.(625-627)GAT>AAT p.D209N PGM2_uc011bya.1_Missense_Mutation_p.D70N|PGM2_uc011byc.1_Missense_Mutation_p.D49N NM_018290 NP_060760 Q96G03 PGM2_HUMAN phosphoglucomutase 2 209 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity ovary(1) 1 AGCTTGGGACGATTCTTTAAT 0.403 11 58 --- --- --- --- PASS BEND4 389206 broad.mit.edu 37 4 42145769 42145769 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr4:42145769C>A uc003gwn.2 - 3 1310 c.730G>T c.(730-732)GCC>TCC p.A244S BEND4_uc003gwm.2_Missense_Mutation_p.A244S|BEND4_uc011byy.1_Missense_Mutation_p.A244S NM_207406 NP_997289 Q6ZU67 BEND4_HUMAN BEN domain containing 4 isoform a 244 0 CTCAAAAAGGCAGAAGTTTGT 0.468 3 20 --- --- --- --- PASS GABRG1 2565 broad.mit.edu 37 4 46043106 46043106 + Missense_Mutation SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr4:46043106G>C uc003gxb.2 - 9 1449 c.1297C>G c.(1297-1299)CAC>GAC p.H433D NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 433 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) ATGCGTATGTGTATCCTTCCT 0.408 15 53 --- --- --- --- PASS GABRA4 2557 broad.mit.edu 37 4 46967068 46967068 + Silent SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr4:46967068G>T uc003gxg.2 - 8 1192 c.1053C>A c.(1051-1053)GCC>GCA p.A351A NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 351 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCTTCCTTTTGGCTTTTTCCA 0.468 18 38 --- --- --- --- PASS GABRA4 2557 broad.mit.edu 37 4 46973213 46973213 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr4:46973213C>A uc003gxg.2 - 7 900 c.761G>T c.(760-762)CGG>CTG p.R254L NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 254 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ACCCATCTTCCGTCTGAGGTG 0.383 19 27 --- --- --- --- PASS CORIN 10699 broad.mit.edu 37 4 47655610 47655610 + Silent SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr4:47655610G>A uc003gxm.2 - 13 1896 c.1803C>T c.(1801-1803)GGC>GGT p.G601G CORIN_uc011bzf.1_Silent_p.G462G|CORIN_uc011bzg.1_Silent_p.G534G|CORIN_uc011bzh.1_Silent_p.G564G NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 601 Extracellular (Potential).|LDL-receptor class A 5. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 AGTCGGCCTGGCCATCACATC 0.403 10 57 --- --- --- --- PASS SGCB 6443 broad.mit.edu 37 4 52890241 52890241 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr4:52890241C>A uc003gzj.2 - 6 899 c.839G>T c.(838-840)GGT>GTT p.G280V SGCB_uc011bzp.1_Missense_Mutation_p.G210V NM_000232 NP_000223 Q16585 SGCB_HUMAN sarcoglycan, beta 280 Extracellular (Potential).|Cys-rich. cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma 0 GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204) TACCCAGTCACCACTACCCAA 0.517 25 44 --- --- --- --- PASS SPATA18 132671 broad.mit.edu 37 4 52926996 52926996 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr4:52926996G>T uc003gzl.2 + 3 520 c.242G>T c.(241-243)TGG>TTG p.W81L SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.W81L|SPATA18_uc003gzk.1_Missense_Mutation_p.W81L NM_145263 NP_660306 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 homolog 81 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) CTTTTGCCTTGGCTGGAGGCT 0.378 24 54 --- --- --- --- PASS PDGFRA 5156 broad.mit.edu 37 4 54257635 54257635 + Missense_Mutation SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr4:54257635G>C uc003haa.2 + 9 861 c.675G>C c.(673-675)GAG>GAC p.E225D FIP1L1_uc003gzx.3_Missense_Mutation_p.E210D|FIP1L1_uc011bzt.1_Missense_Mutation_p.E225D|FIP1L1_uc003gzy.2_Missense_Mutation_p.E225D|FIP1L1_uc011bzu.1_Missense_Mutation_p.E210D|FIP1L1_uc003gzz.2_Intron|FIP1L1_uc003hab.2_Intron|FIP1L1_uc003hac.2_Intron NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha Error:Variant_position_missing_in_P16234_after_alignment cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CAGGTGCAGAGATCCAAGATG 0.358 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 17 35 --- --- --- --- PASS KIAA1211 57482 broad.mit.edu 37 4 57182429 57182429 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr4:57182429G>T uc003hbk.2 + 8 3152 c.2761G>T c.(2761-2763)GCT>TCT p.A921S KIAA1211_uc010iha.2_Missense_Mutation_p.A914S|KIAA1211_uc011bzz.1_Missense_Mutation_p.A831S|KIAA1211_uc003hbm.1_Missense_Mutation_p.A807S NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 921 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) GAGGGACTCCGCTGAACCTTC 0.657 9 11 --- --- --- --- PASS UNC5C 8633 broad.mit.edu 37 4 96127913 96127913 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr4:96127913G>T uc003htp.1 - 11 1922 c.1768C>A c.(1768-1770)CCT>ACT p.P590T UNC5C_uc010ilc.1_Missense_Mutation_p.P609T NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 590 Cytoplasmic (Potential).|ZU5. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) CTCACCACAGGGGTCAAAAGT 0.537 17 18 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114195682 114195682 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr4:114195682G>A uc003ibe.3 + 15 1660 c.1560G>A c.(1558-1560)ATG>ATA p.M520I ANK2_uc003ibd.3_Missense_Mutation_p.M499I|ANK2_uc003ibf.3_Missense_Mutation_p.M520I|ANK2_uc003ibc.2_Missense_Mutation_p.M496I|ANK2_uc011cgb.1_Missense_Mutation_p.M535I NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 520 ANK 15. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TACAACATATGGCTCATCCAG 0.507 30 39 --- --- --- --- PASS SLC25A31 83447 broad.mit.edu 37 4 128651829 128651829 + Silent SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr4:128651829G>C uc003ifl.2 + 1 275 c.129G>C c.(127-129)CGG>CGC p.R43R NM_031291 NP_112581 Q9H0C2 ADT4_HUMAN solute carrier family 25 (mitochondrial carrier; 43 Solcar 1.|Helical; Name=1; (Potential). transmembrane transport cilium|flagellum|integral to membrane|mitochondrial inner membrane binding|transporter activity 0 CCATCGAGCGGGTGAAGCTGC 0.652 17 20 --- --- --- --- PASS POU4F2 5458 broad.mit.edu 37 4 147561554 147561554 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr4:147561554C>A uc003ikv.2 + 2 1072 c.824C>A c.(823-825)ACC>AAC p.T275N NM_004575 NP_004566 Q12837 PO4F2_HUMAN Brn3b POU domain transcription factor 275 POU-specific. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1) 1 all_hematologic(180;0.151) CTGGGGGTGACCCAGGCAGAT 0.667 7 18 --- --- --- --- PASS LRBA 987 broad.mit.edu 37 4 151771880 151771880 + Nonsense_Mutation SNP T A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr4:151771880T>A uc010ipj.2 - 24 4474 c.4000A>T c.(4000-4002)AGA>TGA p.R1334* LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Nonsense_Mutation_p.R1334* NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 1334 WD 1. endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) ACAAACCTTCTCCACATCTGT 0.313 12 20 --- --- --- --- PASS FAM198B 51313 broad.mit.edu 37 4 159076762 159076762 + Splice_Site SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr4:159076762C>A uc003ipp.3 - 3 1577 c.1125_splice c.e3+1 p.Q375_splice FAM198B_uc003ipq.3_Splice_Site_p.Q383_splice|FAM198B_uc003ipr.3_Splice_Site_p.Q375_splice NM_016613 NP_057697 Q6UWH4 F198B_HUMAN hypothetical protein LOC51313 isoform 2 Golgi membrane|integral to membrane 0 GATAAACTTACCTGTAACAAA 0.413 11 19 --- --- --- --- PASS FAM198B 51313 broad.mit.edu 37 4 159076763 159076763 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr4:159076763C>A uc003ipp.3 - 3 1577 c.1125G>T c.(1123-1125)CAG>CAT p.Q375H FAM198B_uc003ipq.3_Missense_Mutation_p.Q383H|FAM198B_uc003ipr.3_Missense_Mutation_p.Q375H NM_016613 NP_057697 Q6UWH4 F198B_HUMAN hypothetical protein LOC51313 isoform 2 375 Extracellular (Potential). Golgi membrane|integral to membrane 0 ATAAACTTACCTGTAACAAAA 0.408 12 21 --- --- --- --- PASS ODZ3 55714 broad.mit.edu 37 4 183714418 183714418 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr4:183714418G>T uc003ivd.1 + 25 6630 c.6593G>T c.(6592-6594)CGT>CTT p.R2198L NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 2198 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) GGTTTCCTACGTCAAAGGGGC 0.493 23 32 --- --- --- --- PASS CTNND2 1501 broad.mit.edu 37 5 11364909 11364909 + Missense_Mutation SNP T C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr5:11364909T>C uc003jfa.1 - 8 1416 c.1271A>G c.(1270-1272)TAT>TGT p.Y424C CTNND2_uc010itt.2_Missense_Mutation_p.Y333C|CTNND2_uc011cmy.1_Missense_Mutation_p.Y87C|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_5'UTR NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 424 ARM 1. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 GCGGTCTTCATAGATGGGATC 0.617 10 41 --- --- --- --- PASS PRDM9 56979 broad.mit.edu 37 5 23510028 23510028 + Splice_Site SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr5:23510028G>C uc003jgo.2 + 4 376 c.194_splice c.e4-1 p.G65_splice NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 CTTCTTTTCAGGTCTCAGAGC 0.483 HNSCC(3;0.000094) 9 41 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24487815 24487815 + Missense_Mutation SNP A G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr5:24487815A>G uc003jgr.1 - 12 2656 c.2324T>C c.(2323-2325)CTA>CCA p.L775P CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 775 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) CATTTCTGCTAGCTTATTAAA 0.423 HNSCC(23;0.051) 55 159 --- --- --- --- PASS UGT3A1 133688 broad.mit.edu 37 5 35965778 35965778 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr5:35965778G>A uc003jjv.1 - 4 710 c.553C>T c.(553-555)CCA>TCA p.P185S UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.P185S|UGT3A1_uc011cor.1_Missense_Mutation_p.P151S|UGT3A1_uc003jjy.1_Missense_Mutation_p.P131S NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 185 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGGAATACTGGAACATAAGAC 0.468 36 42 --- --- --- --- PASS C6 729 broad.mit.edu 37 5 41186173 41186173 + Missense_Mutation SNP T A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr5:41186173T>A uc003jmk.2 - 6 935 c.725A>T c.(724-726)GAG>GTG p.E242V C6_uc003jml.1_Missense_Mutation_p.E242V NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 242 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CTGTCATACCTCAAAGCCGAC 0.403 16 68 --- --- --- --- PASS FBXO4 26272 broad.mit.edu 37 5 41927343 41927343 + Missense_Mutation SNP A C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr5:41927343A>C uc003jmq.2 + 2 474 c.418A>C c.(418-420)ATG>CTG p.M140L FBXO4_uc003jmp.2_Missense_Mutation_p.M140L|FBXO4_uc003jmr.2_Missense_Mutation_p.M140L NM_012176 NP_036308 Q9UKT5 FBX4_HUMAN F-box only protein 4 isoform 1 140 positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex protein binding|protein homodimerization activity|ubiquitin-protein ligase activity liver(1) 1 Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604) TTTTGACTACATGGCAGTGTA 0.274 15 104 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45645705 45645705 + Missense_Mutation SNP T G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr5:45645705T>G uc003jok.2 - 2 456 c.431A>C c.(430-432)TAC>TCC p.Y144S NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 144 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 TAAATCCCAGTAAAACCTACA 0.303 29 53 --- --- --- --- PASS VCAN 1462 broad.mit.edu 37 5 82837984 82837984 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr5:82837984G>T uc003kii.3 + 8 9518 c.9162G>T c.(9160-9162)GAG>GAT p.E3054D VCAN_uc003kij.3_Missense_Mutation_p.E2067D|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.E1718D NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 3054 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TTAATACTGAGGTTGCAACAC 0.438 26 36 --- --- --- --- PASS KCNN2 3781 broad.mit.edu 37 5 113740484 113740484 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr5:113740484G>T uc003kqo.2 + 3 1389 c.932G>T c.(931-933)GGA>GTA p.G311V NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 311 Helical; Name=Segment S5; (Potential). integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) ATATGCCCAGGAACTGTACTC 0.363 46 52 --- --- --- --- PASS KDM3B 51780 broad.mit.edu 37 5 137726770 137726770 + Missense_Mutation SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr5:137726770G>C uc003lcy.1 + 8 1649 c.1449G>C c.(1447-1449)TTG>TTC p.L483F KDM3B_uc010jew.1_Missense_Mutation_p.L139F|KDM3B_uc011cys.1_Intron NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN jumonji domain containing 1B 483 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1) 11 CGCAACCTTTGACTTTTGGAA 0.458 6 45 --- --- --- --- PASS PCDHA4 56144 broad.mit.edu 37 5 140188233 140188233 + Silent SNP C T T rs139246893 TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr5:140188233C>T uc003lhi.2 + 1 1562 c.1461C>T c.(1459-1461)AAC>AAT p.N487N PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.N487N|PCDHA4_uc011daa.1_Silent_p.N487N NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 487 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCAGGAGAACGCGCTGGTGT 0.657 15 22 --- --- --- --- PASS PCDHB14 56122 broad.mit.edu 37 5 140604611 140604611 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr5:140604611C>A uc003ljb.2 + 1 1534 c.1534C>A c.(1534-1536)CAC>AAC p.H512N PCDHB14_uc011dal.1_Missense_Mutation_p.H359N NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 512 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGACAATGGCCACCTGTTTGC 0.667 28 42 --- --- --- --- PASS C5orf46 389336 broad.mit.edu 37 5 147281261 147281261 + Missense_Mutation SNP A G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr5:147281261A>G uc010jgp.2 - 2 183 c.146T>C c.(145-147)CTA>CCA p.L49P C5orf46_uc003lou.2_Missense_Mutation_p.L49P|C5orf46_uc003lov.3_Missense_Mutation_p.L49P NM_206966 NP_996849 Q6UWT4 CE046_HUMAN hypothetical protein LOC389336 precursor 49 extracellular region 0 CAGGAGGCTTAGGAATTTGGG 0.423 14 29 --- --- --- --- PASS HTR4 3360 broad.mit.edu 37 5 147889347 147889347 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr5:147889347G>A uc003lpn.2 - 6 912 c.748C>T c.(748-750)CGC>TGC p.R250C HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_Missense_Mutation_p.R250C|HTR4_uc003lpj.1_Missense_Mutation_p.R250C|HTR4_uc003lpk.2_Missense_Mutation_p.R250C|HTR4_uc011dby.1_Missense_Mutation_p.R250C|HTR4_uc003lpl.2_Missense_Mutation_p.R264C|HTR4_uc003lpm.2_Missense_Mutation_p.R250C|HTR4_uc010jgv.2_RNA|HTR4_uc003lpo.1_Missense_Mutation_p.R250C NM_000870 NP_000861 Q13639 5HT4R_HUMAN serotonin 5-HT4 receptor isoform b 250 Cytoplasmic (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) GTCCTCATGCGATGAGTGCTA 0.547 7 42 --- --- --- --- PASS ARSI 340075 broad.mit.edu 37 5 149676932 149676932 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr5:149676932C>A uc003lrv.2 - 2 2144 c.1555G>T c.(1555-1557)GCT>TCT p.A519S NM_001012301 NP_001012301 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I precursor 519 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) GGCCCCCAAGCACCCCCATTA 0.602 28 70 --- --- --- --- PASS TIMD4 91937 broad.mit.edu 37 5 156346549 156346549 + Silent SNP T C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr5:156346549T>C uc003lwh.2 - 9 1113 c.1056A>G c.(1054-1056)CTA>CTG p.L352L TIMD4_uc010jii.2_Silent_p.L324L|TIMD4_uc003lwg.2_Silent_p.L54L NM_138379 NP_612388 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain 352 Cytoplasmic (Potential). integral to membrane ovary(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CAATGTAGTCTAGCCTGTAAA 0.408 22 20 --- --- --- --- PASS TIMD4 91937 broad.mit.edu 37 5 156378573 156378573 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr5:156378573G>A uc003lwh.2 - 3 686 c.629C>T c.(628-630)ACA>ATA p.T210I TIMD4_uc010jii.2_Missense_Mutation_p.T210I NM_138379 NP_612388 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain 210 Extracellular (Potential).|Thr-rich. integral to membrane ovary(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CAGAAGACCTGTGGCTTCCTC 0.527 7 34 --- --- --- --- PASS DOCK2 1794 broad.mit.edu 37 5 169188602 169188602 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr5:169188602G>T uc003maf.2 + 25 2607 c.2527G>T c.(2527-2529)GTC>TTC p.V843F DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.V335F NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 843 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAATGAGATAGTCCAGAGCAA 0.488 17 74 --- --- --- --- PASS LCP2 3937 broad.mit.edu 37 5 169697761 169697761 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr5:169697761G>A uc003man.1 - 7 692 c.485C>T c.(484-486)CCT>CTT p.P162L LCP2_uc011det.1_5'UTR|LCP2_uc010jjo.1_5'Flank NM_005565 NP_005556 Q13094 LCP2_HUMAN lymphocyte cytosolic protein 2 162 immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) AGGCTTGGCAGGCAGGATGGA 0.592 7 30 --- --- --- --- PASS UNC5A 90249 broad.mit.edu 37 5 176295812 176295812 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr5:176295812G>T uc003mey.2 + 5 760 c.568G>T c.(568-570)GTG>TTG p.V190L UNC5A_uc003mex.1_Missense_Mutation_p.V190L|UNC5A_uc010jkg.1_Missense_Mutation_p.V150L NM_133369 NP_588610 Q6ZN44 UNC5A_HUMAN netrin receptor Unc5h1 precursor 190 Ig-like C2-type.|Extracellular (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane skin(1) 1 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGAGGACCTGGTGGACCCGTC 0.672 7 46 --- --- --- --- PASS HK3 3101 broad.mit.edu 37 5 176314654 176314654 + Silent SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr5:176314654C>A uc003mfa.2 - 11 1490 c.1398G>T c.(1396-1398)GTG>GTT p.V466V HK3_uc003mez.2_Silent_p.V22V NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 466 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCACCATCGCCACTCCCCGGC 0.647 12 21 --- --- --- --- PASS UIMC1 51720 broad.mit.edu 37 5 176334156 176334156 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr5:176334156C>A uc011dfp.1 - 13 2038 c.1871G>T c.(1870-1872)CGA>CTA p.R624L UIMC1_uc003mfc.1_Missense_Mutation_p.R501L|UIMC1_uc003mfd.1_Missense_Mutation_p.R254L NM_016290 NP_057374 Q96RL1 UIMC1_HUMAN ubiquitin interaction motif containing 1 624 double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent BRCA1-A complex histone binding|K63-linked polyubiquitin binding ovary(3)|skin(1) 4 all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) Medulloblastoma(196;0.0145)|all_neural(177;0.0325) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACTAAGGAGTCGGCCTTCACT 0.468 6 28 --- --- --- --- PASS FAM50B 26240 broad.mit.edu 37 6 3850460 3850460 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:3850460G>T uc003mvu.2 + 2 527 c.415G>T c.(415-417)GCC>TCC p.A139S NM_012135 NP_036267 Q9Y247 FA50B_HUMAN family with sequence similarity 50, member B 139 nucleus pancreas(1) 1 Ovarian(93;0.0925) all_hematologic(90;0.108) GGCCAGGCGCGCCGGAAACCT 0.612 11 14 --- --- --- --- PASS C6orf146 222826 broad.mit.edu 37 6 4070123 4070123 + Missense_Mutation SNP A T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:4070123A>T uc003mvx.2 - 7 674 c.334T>A c.(334-336)TTT>ATT p.F112I C6orf146_uc010jnq.1_Intron|C6orf146_uc003mvy.2_Missense_Mutation_p.F49I NM_173563 NP_775834 Q8IXS0 CF146_HUMAN hypothetical protein LOC222826 112 ovary(1) 1 Ovarian(93;0.0925) all_hematologic(90;0.108) ATTACATTAAAGCCAGTTTCC 0.318 14 41 --- --- --- --- PASS HIST1H4K 8362 broad.mit.edu 37 6 27799002 27799002 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:27799002C>A uc003njr.2 - 1 304 c.304G>T c.(304-306)GGT>TGT p.G102C NM_003541 NP_003532 P62805 H4_HUMAN histone cluster 1, H4k 102 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding 0 GCTCAACCACCGAAACCGTAG 0.577 12 32 --- --- --- --- PASS HIST1H2AK 8330 broad.mit.edu 37 6 27806029 27806029 + Missense_Mutation SNP C G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:27806029C>G uc003njs.2 - 1 89 c.89G>C c.(88-90)CGA>CCA p.R30P HIST1H2BN_uc003njt.1_5'Flank|HIST1H2BN_uc003nju.1_5'Flank|HIST1H2BN_uc003njv.2_5'Flank NM_003510 NP_003501 P0C0S8 H2A1_HUMAN histone cluster 1, H2ak 30 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding upper_aerodigestive_tract(1) 1 TCGGTGCACTCGGCCCACTGG 0.632 5 40 --- --- --- --- PASS CDSN 1041 broad.mit.edu 37 6 31084548 31084548 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:31084548G>A uc003nsm.1 - 2 871 c.844C>T c.(844-846)CCC>TCC p.P282S PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron NM_001264 NP_001255 Q15517 CDSN_HUMAN corneodesmosin precursor 282 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity ovary(1)|pancreas(1) 2 GGGGGACAGGGCTTGCCTGGA 0.587 15 26 --- --- --- --- PASS UHRF1BP1 54887 broad.mit.edu 37 6 34839685 34839685 + Missense_Mutation SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:34839685G>C uc003oju.3 + 20 4414 c.4180G>C c.(4180-4182)GAG>CAG p.E1394Q UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 1394 ovary(3) 3 GCCCACAGGAGAGGTTTTTGA 0.502 5 22 --- --- --- --- PASS FRS3 10817 broad.mit.edu 37 6 41738623 41738623 + Missense_Mutation SNP G A A rs142682061 TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:41738623G>A uc003orc.1 - 7 1457 c.1213C>T c.(1213-1215)CGC>TGC p.R405C NM_006653 NP_006644 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 405 fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding ovary(2) 2 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CCCGGCCGGCGGAAATCAAAG 0.682 10 46 --- --- --- --- PASS HSP90AB1 3326 broad.mit.edu 37 6 44218232 44218232 + Missense_Mutation SNP A T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:44218232A>T uc003oxa.1 + 6 937 c.853A>T c.(853-855)ACC>TCC p.T285S HSP90AB1_uc011dvr.1_Missense_Mutation_p.T275S|HSP90AB1_uc003oxb.1_Missense_Mutation_p.T285S|HSP90AB1_uc011dvs.1_Missense_Mutation_p.T105S|HSP90AB1_uc003oxc.1_5'UTR NM_007355 NP_031381 P08238 HS90B_HUMAN heat shock 90kDa protein 1, beta 285 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding lung(3)|breast(1) 4 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ACTAAACAAGACCAAGCCTAT 0.284 14 42 --- --- --- --- PASS TDRD6 221400 broad.mit.edu 37 6 46661523 46661523 + Silent SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:46661523C>T uc003oyj.2 + 1 5658 c.5658C>T c.(5656-5658)GGC>GGT p.G1886G TDRD6_uc010jze.2_Silent_p.G1880G NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 1886 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) TCACAAAAGGCGCCATGGAGC 0.498 24 31 --- --- --- --- PASS GPR111 222611 broad.mit.edu 37 6 47647862 47647862 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:47647862C>A uc010jzj.1 + 5 528 c.527C>A c.(526-528)ACT>AAT p.T176N GPR111_uc010jzk.1_Missense_Mutation_p.T108N|GPR111_uc003oyy.2_RNA NM_153839 NP_722581 Q8IZF7 GP111_HUMAN G-protein coupled receptor 111 176 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 AGTGTATATACTGGAAAGTCT 0.333 21 38 --- --- --- --- PASS GPR111 222611 broad.mit.edu 37 6 47649302 47649302 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:47649302C>A uc010jzj.1 + 6 1008 c.1007C>A c.(1006-1008)CCT>CAT p.P336H GPR111_uc010jzk.1_Missense_Mutation_p.P268H|GPR111_uc003oyy.2_RNA NM_153839 NP_722581 Q8IZF7 GP111_HUMAN G-protein coupled receptor 111 336 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 GTGCCTTCCCCTTCTCAGGTC 0.418 38 107 --- --- --- --- PASS CRISP3 10321 broad.mit.edu 37 6 49696558 49696558 + Missense_Mutation SNP T C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:49696558T>C uc003ozs.2 - 8 638 c.623A>G c.(622-624)AAG>AGG p.K208R NM_006061 NP_006052 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 precursor 208 innate immune response proteinaceous extracellular matrix|specific granule skin(2) 2 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) ATCTTCGTACTTGCAACCATT 0.363 21 63 --- --- --- --- PASS FAM83B 222584 broad.mit.edu 37 6 54735284 54735284 + Silent SNP T C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:54735284T>C uc003pck.2 + 2 356 c.240T>C c.(238-240)GAT>GAC p.D80D NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 80 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) ATGGTACTGATGATTCCTGTG 0.428 57 131 --- --- --- --- PASS FAM83B 222584 broad.mit.edu 37 6 54805042 54805042 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:54805042G>T uc003pck.2 + 5 1389 c.1273G>T c.(1273-1275)GTG>TTG p.V425L NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 425 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) TAGTCTCAGTGTGGCGTCCTC 0.478 23 34 --- --- --- --- PASS FAM83B 222584 broad.mit.edu 37 6 54805695 54805695 + Missense_Mutation SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:54805695G>C uc003pck.2 + 5 2042 c.1926G>C c.(1924-1926)TTG>TTC p.L642F NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 642 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) ATAAAACCTTGGGTGTAAATA 0.358 18 44 --- --- --- --- PASS GFRAL 389400 broad.mit.edu 37 6 55198715 55198715 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:55198715C>A uc003pcm.1 + 3 375 c.289C>A c.(289-291)CTT>ATT p.L97I NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 97 Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GAACAAACTGCTTGGAAAAAA 0.294 33 107 --- --- --- --- PASS DST 667 broad.mit.edu 37 6 56350150 56350150 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:56350150C>A uc003pdf.2 - 82 14838 c.14810G>T c.(14809-14811)GGA>GTA p.G4937V DST_uc003pcz.3_Missense_Mutation_p.G4759V|DST_uc011dxj.1_Missense_Mutation_p.G4788V|DST_uc011dxk.1_Missense_Mutation_p.G4799V|DST_uc003pcy.3_Missense_Mutation_p.G4433V|DST_uc003pda.3_Missense_Mutation_p.G129V NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 6845 Spectrin 19. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATCAATGTCTCCATGAACAGG 0.393 23 66 --- --- --- --- PASS BAI3 577 broad.mit.edu 37 6 69758173 69758173 + Nonsense_Mutation SNP C G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:69758173C>G uc003pev.3 + 14 2652 c.2204C>G c.(2203-2205)TCA>TGA p.S735* BAI3_uc010kak.2_Nonsense_Mutation_p.S735* NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 735 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) GCAAGAAACTCAGAAGATAGG 0.388 17 25 --- --- --- --- PASS COL12A1 1303 broad.mit.edu 37 6 75814930 75814930 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:75814930C>A uc003phs.2 - 54 8423 c.8257G>T c.(8257-8259)GGC>TGC p.G2753C COL12A1_uc003pht.2_Missense_Mutation_p.G1589C NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 2753 Triple-helical region (COL2) with 1 imperfection. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 ACTGCAGGGCCTGGAGGTCCT 0.388 9 19 --- --- --- --- PASS ME1 4199 broad.mit.edu 37 6 84055988 84055988 + Silent SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:84055988G>A uc003pjy.2 - 5 610 c.504C>T c.(502-504)GGC>GGT p.G168G ME1_uc011dzb.1_Silent_p.G93G|ME1_uc011dzc.1_Silent_p.G2G NM_002395 NP_002386 P48163 MAOX_HUMAN cytosolic malic enzyme 1 168 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) CCACAGGGATGCCCATTCCAT 0.448 3 43 --- --- --- --- PASS CNR1 1268 broad.mit.edu 37 6 88854435 88854435 + Missense_Mutation SNP T A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:88854435T>A uc011dzq.1 - 2 4122 c.559A>T c.(559-561)AAC>TAC p.N187Y CNR1_uc010kbz.2_Missense_Mutation_p.N187Y|CNR1_uc011dzr.1_Missense_Mutation_p.N187Y|CNR1_uc011dzs.1_Missense_Mutation_p.N187Y|CNR1_uc003pmq.3_Missense_Mutation_p.N187Y|CNR1_uc011dzt.1_Missense_Mutation_p.N187Y|CNR1_uc010kca.2_Missense_Mutation_p.N154Y NM_001160260 NP_001153732 P21554 CNR1_HUMAN cannabinoid receptor 1 isoform a 187 Extracellular (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding skin(2) 2 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) AGAAACACGTTGCGGCTATCT 0.557 12 12 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90499535 90499535 + Missense_Mutation SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:90499535G>C uc003pnn.1 - 7 1310 c.1194C>G c.(1192-1194)ATC>ATG p.I398M MDN1_uc003pnp.1_Missense_Mutation_p.I398M NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 398 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CCTCCAGAAGGATCCAGTGGC 0.478 12 31 --- --- --- --- PASS GJA10 84694 broad.mit.edu 37 6 90604410 90604410 + Missense_Mutation SNP A T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:90604410A>T uc011eaa.1 + 1 223 c.223A>T c.(223-225)ATC>TTC p.I75F NM_032602 NP_115991 Q969M2 CXA10_HUMAN gap junction protein, alpha 10 75 Extracellular (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) TATCTCTTTGATCAGGTTCTG 0.458 19 21 --- --- --- --- PASS SIM1 6492 broad.mit.edu 37 6 100896435 100896435 + Silent SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:100896435G>T uc003pqj.3 - 6 870 c.663C>A c.(661-663)GCC>GCA p.A221A SIM1_uc010kcu.2_Silent_p.A221A NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 221 PAS 2. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TCTCCGTGACGGCGCTGGGAG 0.602 9 19 --- --- --- --- PASS HEY2 23493 broad.mit.edu 37 6 126080274 126080274 + Missense_Mutation SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:126080274G>C uc003qad.2 + 5 531 c.340G>C c.(340-342)GCA>CCA p.A114P HEY2_uc011ebr.1_Missense_Mutation_p.A68P NM_012259 NP_036391 Q9UBP5 HEY2_HUMAN hairy/enhancer-of-split related with YRPW motif 114 Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity). negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) CTACTTTGACGCACACGCTCT 0.527 15 28 --- --- --- --- PASS C6orf97 80129 broad.mit.edu 37 6 151857477 151857477 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:151857477G>T uc003qol.2 + 2 171 c.82G>T c.(82-84)GTC>TTC p.V28F NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 28 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) TCTTTCGGAAGTCCCGGTCAC 0.438 25 37 --- --- --- --- PASS PARK2 5071 broad.mit.edu 37 6 162394435 162394435 + Missense_Mutation SNP T G G rs137853060 TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:162394435T>G uc003qtx.3 - 6 767 c.633A>C c.(631-633)AAA>AAC p.K211N PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Missense_Mutation_p.K20N|PARK2_uc003qtw.3_Missense_Mutation_p.K20N|PARK2_uc003qty.3_Missense_Mutation_p.K183N|PARK2_uc003qtz.3_Missense_Mutation_p.K62N|PARK2_uc010kke.1_Missense_Mutation_p.K211N NM_004562 NP_004553 O60260 PRKN2_HUMAN parkin isoform 1 211 SYT11 binding 1. K -> R (in PARK; early onset).|K -> N (in PARK; early and late onset; severely compromises the mitochondrial localization). aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding upper_aerodigestive_tract(1) 1 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) GTGCTCCACATTTAAAGAAAA 0.413 5 19 --- --- --- --- PASS THBS2 7058 broad.mit.edu 37 6 169637402 169637402 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr6:169637402G>T uc003qwt.2 - 10 1588 c.1340C>A c.(1339-1341)TCT>TAT p.S447Y NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 447 TSP type-1 2. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) AGAGCATGAAGACCAAGGTGA 0.582 10 8 --- --- --- --- PASS CYP2W1 54905 broad.mit.edu 37 7 1024653 1024653 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr7:1024653C>A uc003sjq.1 + 3 418 c.405C>A c.(403-405)AGC>AGA p.S135R CYP2W1_uc003sjr.1_Missense_Mutation_p.S135R NM_017781 NP_060251 Q8TAV3 CP2W1_HUMAN cytochrome P450, family 2, subfamily W, 135 xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen 0 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) CCCTGCACAGCCTGGGCGTGG 0.662 10 25 --- --- --- --- PASS BAZ1B 9031 broad.mit.edu 37 7 72865210 72865210 + Nonsense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr7:72865210C>A uc003tyc.2 - 14 3892 c.3547G>T c.(3547-3549)GAA>TAA p.E1183* NM_032408 NP_115784 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 1183 ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 7 Lung NSC(55;0.0659)|all_lung(88;0.152) CTAGCATTTTCTGCGGACATA 0.428 15 70 --- --- --- --- PASS SEMA3C 10512 broad.mit.edu 37 7 80387723 80387723 + Missense_Mutation SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr7:80387723C>T uc003uhj.2 - 15 2129 c.1567G>A c.(1567-1569)GAC>AAC p.D523N SEMA3C_uc011kgw.1_Missense_Mutation_p.D541N NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 523 immune response|response to drug membrane receptor activity ovary(1) 1 AGGCAGCAGTCAGCACAGGCT 0.517 15 63 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88965180 88965180 + Missense_Mutation SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr7:88965180C>T uc011khi.1 + 4 3422 c.2884C>T c.(2884-2886)CCA>TCA p.P962S NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 962 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TTCGCAAGTCCCATGCACAAT 0.388 HNSCC(36;0.09) 13 88 --- --- --- --- PASS SAMD9 54809 broad.mit.edu 37 7 92731247 92731247 + Silent SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr7:92731247G>A uc003umf.2 - 3 4420 c.4164C>T c.(4162-4164)TTC>TTT p.F1388F SAMD9_uc003umg.2_Silent_p.F1388F NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1388 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TGGCCAAGATGAAATTTAGCT 0.358 6 117 --- --- --- --- PASS LRRN3 54674 broad.mit.edu 37 7 110763333 110763333 + Missense_Mutation SNP C G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr7:110763333C>G uc003vft.3 + 4 1551 c.505C>G c.(505-507)CTT>GTT p.L169V IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.L169V|LRRN3_uc003vfs.3_Missense_Mutation_p.L169V NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 169 Extracellular (Potential).|LRR 5. integral to membrane skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) TCTTCTTCGACTTCATCTCAA 0.368 25 57 --- --- --- --- PASS DOCK4 9732 broad.mit.edu 37 7 111430539 111430539 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr7:111430539G>T uc003vfx.2 - 31 3558 c.3289C>A c.(3289-3291)CAG>AAG p.Q1097K DOCK4_uc011kmm.1_5'Flank|DOCK4_uc003vfw.2_Missense_Mutation_p.Q538K|DOCK4_uc003vfy.2_Missense_Mutation_p.Q1133K NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1097 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) CTCCGCCTCTGCTCCCAGTCC 0.488 5 19 --- --- --- --- PASS MET 4233 broad.mit.edu 37 7 116415134 116415134 + Silent SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr7:116415134G>C uc003vij.2 + 15 3415 c.3228G>C c.(3226-3228)CTG>CTC p.L1076L MET_uc010lkh.2_Silent_p.L1094L|MET_uc011knj.1_Silent_p.L646L NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor 1076 Cytoplasmic (Potential). axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding p.Q1029_G1105del(1) upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CCAGTAGCCTGATTGTGCATT 0.428 Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) 5 95 --- --- --- --- PASS NAA38 51691 broad.mit.edu 37 7 117828398 117828398 + Missense_Mutation SNP A T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr7:117828398A>T uc003vjg.2 + 3 331 c.139A>T c.(139-141)AGC>TGC p.S47C NM_016200 NP_057284 O95777 NAA38_HUMAN U6 snRNA-associated Sm-like protein LSm8 47 nuclear mRNA splicing, via spliceosome nucleus|ribonucleoprotein complex protein binding|U6 snRNA binding 0 ACGAGTATTCAGCTCTTCACA 0.338 7 48 --- --- --- --- PASS POT1 25913 broad.mit.edu 37 7 124493080 124493080 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr7:124493080C>A uc003vlm.2 - 10 1416 c.815G>T c.(814-816)GGT>GTT p.G272V POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.G141V|POT1_uc003vln.2_RNA NM_015450 NP_056265 Q9NUX5 POTE1_HUMAN protection of telomeres 1 isoform 1 272 DNA binding. DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity central_nervous_system(1) 1 GATTCCCCGACCGTAACTGGT 0.358 20 23 --- --- --- --- PASS OPN1SW 611 broad.mit.edu 37 7 128415662 128415662 + Silent SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr7:128415662G>T uc003vnt.3 - 1 183 c.183C>A c.(181-183)CGC>CGA p.R61R NM_001708 NP_001699 P03999 OPSB_HUMAN opsin 1 (cone pigments), short-wave-sensitive 61 Cytoplasmic (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity 0 ACTTTTTGTAGCGCAGTGTGG 0.557 11 59 --- --- --- --- PASS FLNC 2318 broad.mit.edu 37 7 128492756 128492756 + Missense_Mutation SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr7:128492756C>T uc003vnz.3 + 36 6163 c.5954C>T c.(5953-5955)TCG>TTG p.S1985L FLNC_uc003voa.3_Missense_Mutation_p.S1952L NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1985 Filamin 18. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 CGTGCCCCCTCGGGCAACGAG 0.657 26 44 --- --- --- --- PASS KLHDC10 23008 broad.mit.edu 37 7 129736794 129736794 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr7:129736794G>T uc003vpj.1 + 2 335 c.200G>T c.(199-201)AGG>ATG p.R67M KLHDC10_uc003vpk.1_Intron|KLHDC10_uc010lmb.1_Intron NM_014997 NP_055812 Q6PID8 KLD10_HUMAN kelch domain containing 10 67 0 CCAGTTAGGAGGCGCTTCATT 0.413 23 15 --- --- --- --- PASS PTN 5764 broad.mit.edu 37 7 136938369 136938369 + Missense_Mutation SNP T G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr7:136938369T>G uc003vtq.2 - 3 494 c.131A>C c.(130-132)AAG>ACG p.K44T PTN_uc010lmx.2_Missense_Mutation_p.K44T|PTN_uc003vtr.1_Missense_Mutation_p.K44T NM_002825 NP_002816 P21246 PTN_HUMAN pleiotrophin 44 nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway endoplasmic reticulum|extracellular space growth factor activity|heparin binding|protein phosphatase inhibitor activity upper_aerodigestive_tract(1)|pancreas(1) 2 ACAGTCAGACTTCTTCACTTT 0.453 8 18 --- --- --- --- PASS KIAA1549 57670 broad.mit.edu 37 7 138546004 138546004 + Missense_Mutation SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr7:138546004C>T uc011kql.1 - 16 5177 c.5128G>A c.(5128-5130)GTA>ATA p.V1710I KIAA1549_uc011kqi.1_Missense_Mutation_p.V494I|KIAA1549_uc003vuk.3_Missense_Mutation_p.V1660I|KIAA1549_uc011kqj.1_Missense_Mutation_p.V1710I|KIAA1549_uc011kqk.1_Missense_Mutation_p.V494I NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 1710 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 CCGGGGCCTACACCTGCGGTG 0.697 O BRAF pilocytic astrocytoma 15 35 --- --- --- --- PASS BRAF 673 broad.mit.edu 37 7 140481403 140481403 + Missense_Mutation SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr7:140481403C>T uc003vwc.3 - 11 1466 c.1405G>A c.(1405-1407)GGA>AGA p.G469R NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 469 ATP (By similarity).|Protein kinase. G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.G469A(19)|p.G469V(12)|p.G469S(6)|p.G469R(6)|p.G469E(5) KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) TAGACTGTTCCAAATGATCCA 0.373 61 Mis|T|O AKAP9|KIAA1549 melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous_syndrome 14 82 --- --- --- --- PASS MGAM 8972 broad.mit.edu 37 7 141754598 141754598 + Silent SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr7:141754598G>C uc003vwy.2 + 27 3258 c.3204G>C c.(3202-3204)CTG>CTC p.L1068L NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 1068 Glucoamylase.|Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CAGTCCCTCTGAACATACCCA 0.438 25 105 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 146536824 146536824 + Nonsense_Mutation SNP C G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr7:146536824C>G uc003weu.1 + 3 746 c.230C>G c.(229-231)TCA>TGA p.S77* NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 77 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) TGGTCTCCATCAGACAGCGAC 0.443 HNSCC(39;0.1) 3 63 --- --- --- --- PASS ASB10 136371 broad.mit.edu 37 7 150873367 150873367 + Silent SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr7:150873367G>A uc003wjm.1 - 5 1497 c.1371C>T c.(1369-1371)TAC>TAT p.Y457Y ASB10_uc003wjl.1_Silent_p.Y419Y|ASB10_uc003wjn.1_Silent_p.Y397Y NM_001142459 NP_001135931 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box-containing 10 412 SOCS box. intracellular signal transduction 0 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGAGGGAGGAGTAGAAACGCT 0.647 6 19 --- --- --- --- PASS ESYT2 57488 broad.mit.edu 37 7 158590750 158590750 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr7:158590750C>A uc003wob.1 - 3 600 c.534G>T c.(532-534)TGG>TGT p.W178C ESYT2_uc003woc.1_Missense_Mutation_p.W2C|ESYT2_uc003wod.1_Missense_Mutation_p.W178C NM_020728 NP_065779 A0FGR8 ESYT2_HUMAN family with sequence similarity 62 (C2 domain 206 integral to membrane|plasma membrane central_nervous_system(2)|kidney(1) 3 AAATGAAAGGCCACATGTGTT 0.428 9 25 --- --- --- --- PASS NRG1 3084 broad.mit.edu 37 8 32621848 32621848 + Silent SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr8:32621848C>A uc003xiv.2 + 12 2368 c.1851C>A c.(1849-1851)CGC>CGA p.R617R NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Silent_p.R622R|NRG1_uc003xiw.2_Silent_p.R614R|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Silent_p.R359R|NRG1_uc010lvs.2_Silent_p.R359R|NRG1_uc010lvp.2_Silent_p.R571R|NRG1_uc010lvq.2_Silent_p.R554R|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Silent_p.R460R|NRG1_uc003xja.2_Silent_p.R428R NM_013964 NP_039258 Q02297 NRG1_HUMAN neuregulin 1 isoform HRG-alpha 617 Cytoplasmic (Potential). activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity 0 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CAGCAGGCCGCTTCTCGACAC 0.512 5 20 --- --- --- --- PASS CHRNA6 8973 broad.mit.edu 37 8 42623538 42623538 + Silent SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr8:42623538C>A uc003xpj.2 - 1 82 c.36G>T c.(34-36)GGG>GGT p.G12G CHRNA6_uc011lcw.1_Silent_p.G12G NM_004198 NP_004189 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 12 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) GACACAAGCCCCCATGAAGGA 0.423 15 19 --- --- --- --- PASS POTEA 340441 broad.mit.edu 37 8 43155726 43155726 + Silent SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr8:43155726C>A uc003xpz.1 + 4 697 c.654C>A c.(652-654)ATC>ATA p.I218I POTEA_uc003xqa.1_Silent_p.I218I NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 218 ANK 4. ovary(1) 1 AATTTTTAATCAAGAAAAAAG 0.333 4 37 --- --- --- --- PASS UBE2V2 7336 broad.mit.edu 37 8 48955617 48955617 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr8:48955617G>T uc003xqm.2 + 2 62 c.41G>T c.(40-42)CGC>CTC p.R14L NM_003350 NP_003341 Q15819 UB2V2_HUMAN ubiquitin-conjugating enzyme E2v2 14 cell proliferation|DNA double-strand break processing|protein polyubiquitination|regulation of DNA repair cytoplasm|nucleus|UBC13-MMS2 complex acid-amino acid ligase activity|protein binding 0 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196) CGTAATTTTCGCTTGTTGGAA 0.373 Direct_reversal_of_damage|Rad6_pathway 18 49 --- --- --- --- PASS SNAI2 6591 broad.mit.edu 37 8 49832788 49832788 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr8:49832788C>A uc003xqp.2 - 2 456 c.292G>T c.(292-294)GAC>TAC p.D98Y NM_003068 NP_003059 O43623 SNAI2_HUMAN snail 2 98 canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502) CCACTGTGGTCCTTGGAGGAG 0.527 47 116 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52322064 52322064 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr8:52322064G>T uc003xqu.3 - 17 2221 c.2120C>A c.(2119-2121)TCT>TAT p.S707Y PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 707 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) TGTGCATCCAGATAAATTGGC 0.617 14 23 --- --- --- --- PASS IL7 3574 broad.mit.edu 37 8 79650857 79650857 + Nonsense_Mutation SNP A T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr8:79650857A>T uc003ybg.2 - 4 843 c.242T>A c.(241-243)TTA>TAA p.L81* IL7_uc003ybe.2_Intron|IL7_uc011lfm.1_Intron|IL7_uc003ybh.2_RNA|IL7_uc003ybi.3_RNA NM_000880 NP_000871 P13232 IL7_HUMAN interleukin 7 precursor 81 bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation extracellular space cytokine activity|growth factor activity|interleukin-7 receptor binding 0 AGCACGGAATAAAAACATACC 0.353 12 55 --- --- --- --- PASS STMN2 11075 broad.mit.edu 37 8 80577099 80577099 + Missense_Mutation SNP T A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr8:80577099T>A uc003ybj.2 + 5 581 c.530T>A c.(529-531)CTG>CAG p.L177Q STMN2_uc010lzp.2_RNA|STMN2_uc011lfn.1_Intron|STMN2_uc003ybk.2_RNA NM_007029 NP_008960 Q93045 STMN2_HUMAN superiorcervical ganglia, neural specific 10 177 Potential. intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction protein binding ovary(1)|central_nervous_system(1) 2 all_lung(9;8.34e-05) Epithelial(68;0.0229)|all cancers(69;0.0874) CAGGTTGAACTGTCTGGCTGA 0.493 8 16 --- --- --- --- PASS FABP12 646486 broad.mit.edu 37 8 82441723 82441723 + Nonsense_Mutation SNP T A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr8:82441723T>A uc011lfp.1 - 2 196 c.196A>T c.(196-198)AAG>TAG p.K66* FABP12_uc003ycg.3_RNA NM_001105281 NP_001098751 A6NFH5 FBP12_HUMAN fatty acid binding protein 12 66 lipid binding|transporter activity 0 TCTCCCAGCTTAAAGGAGATC 0.423 23 136 --- --- --- --- PASS OSR2 116039 broad.mit.edu 37 8 99962918 99962918 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr8:99962918C>A uc003yir.2 + 3 1226 c.691C>A c.(691-693)CAG>AAG p.Q231K OSR2_uc010mbn.2_Missense_Mutation_p.Q231K|OSR2_uc003yiq.2_Missense_Mutation_p.Q231K|OSR2_uc011lgx.1_Missense_Mutation_p.Q352K NM_001142462 NP_001135934 Q8N2R0 OSR2_HUMAN odd-skipped related 2 isoform a 231 C2H2-type 3. bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding central_nervous_system(1) 1 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) CTTCAAATGTCAGGAGTGTGG 0.358 7 18 --- --- --- --- PASS OSR2 116039 broad.mit.edu 37 8 99963890 99963890 + Silent SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr8:99963890G>C uc003yir.2 + 4 1435 c.900G>C c.(898-900)CGG>CGC p.R300R OSR2_uc003yiq.2_Missense_Mutation_p.G273A|OSR2_uc011lgx.1_Silent_p.R421R NM_001142462 NP_001135934 Q8N2R0 OSR2_HUMAN odd-skipped related 2 isoform a 300 C2H2-type 5; degenerate. bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding central_nervous_system(1) 1 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) GTGATCTGCGGCGGCACAGCC 0.587 5 12 --- --- --- --- PASS ZFPM2 23414 broad.mit.edu 37 8 106811149 106811149 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr8:106811149C>A uc003ymd.2 + 7 960 c.937C>A c.(937-939)CTA>ATA p.L313I ZFPM2_uc011lhs.1_Missense_Mutation_p.L44I|uc003yme.1_5'Flank NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 313 C2H2-type 1. blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TGCTCGAGCTCTAGAAATGCA 0.438 41 111 --- --- --- --- PASS ZFPM2 23414 broad.mit.edu 37 8 106814663 106814663 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr8:106814663C>A uc003ymd.2 + 8 2376 c.2353C>A c.(2353-2355)CAC>AAC p.H785N ZFPM2_uc011lhs.1_Missense_Mutation_p.H516N NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 785 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AGAGTGCTACCACCCAAGATG 0.448 7 35 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113697955 113697955 + Missense_Mutation SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr8:113697955C>T uc003ynu.2 - 15 2321 c.2162G>A c.(2161-2163)TGC>TAC p.C721Y CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Missense_Mutation_p.C681Y|CSMD3_uc011lhx.1_Missense_Mutation_p.C617Y NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 721 Extracellular (Potential).|CUB 4. 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 GTTAGACAGGCAGGGAACTGG 0.313 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 19 62 --- --- --- --- PASS MTSS1 9788 broad.mit.edu 37 8 125565595 125565595 + Missense_Mutation SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr8:125565595C>T uc003yrk.2 - 14 2440 c.1906G>A c.(1906-1908)GGG>AGG p.G636R NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Missense_Mutation_p.G285R|MTSS1_uc011lin.1_Missense_Mutation_p.G410R|MTSS1_uc011lio.1_Missense_Mutation_p.G526R|MTSS1_uc003yri.2_Missense_Mutation_p.G354R|MTSS1_uc003yrj.2_Missense_Mutation_p.G611R|MTSS1_uc003yrl.2_Missense_Mutation_p.G640R NM_014751 NP_055566 O43312 MTSS1_HUMAN metastasis suppressor 1 636 Pro-rich. 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) TCTTCTGGCCCATCTGGAGGG 0.642 10 37 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139611078 139611078 + Nonsense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr8:139611078C>A uc003yvd.2 - 61 4696 c.4249G>T c.(4249-4251)GGA>TGA p.G1417* COL22A1_uc011ljo.1_Nonsense_Mutation_p.G697* NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1417 Pro-rich.|Gly-rich.|Collagen-like 14. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCTGGGATTCCAGGGTCCCCA 0.602 HNSCC(7;0.00092) 16 44 --- --- --- --- PASS SLC45A4 57210 broad.mit.edu 37 8 142231724 142231724 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr8:142231724C>A uc003ywd.1 - 2 537 c.229G>T c.(229-231)GTT>TTT p.V77F SLC45A4_uc003ywc.1_Missense_Mutation_p.V77F|SLC45A4_uc010meq.1_Missense_Mutation_p.V75F NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 128 Helical; (Potential). transport integral to membrane ovary(2) 2 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) AGGACGCCAACGCAGAGGGCG 0.622 15 53 --- --- --- --- PASS CYP11B1 1584 broad.mit.edu 37 8 143960541 143960541 + Missense_Mutation SNP T G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr8:143960541T>G uc003yxi.2 - 2 309 c.302A>C c.(301-303)CAA>CCA p.Q101P CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.Q101P|CYP11B1_uc010mey.2_Missense_Mutation_p.Q146P NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 101 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) GTCCACCTGTTGCAGCTTCTC 0.612 Familial_Hyperaldosteronism_type_I 26 33 --- --- --- --- PASS EXOSC4 54512 broad.mit.edu 37 8 145135440 145135440 + Missense_Mutation SNP A T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr8:145135440A>T uc003zau.2 + 3 784 c.674A>T c.(673-675)CAC>CTC p.H225L GPAA1_uc003zav.1_5'Flank|GPAA1_uc003zaw.1_5'Flank|GPAA1_uc003zax.2_5'Flank NM_019037 NP_061910 Q9NPD3 EXOS4_HUMAN exosome component 4 225 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CGAGATGTGCACACCCTCTTA 0.617 33 40 --- --- --- --- PASS FOXH1 8928 broad.mit.edu 37 8 145699739 145699739 + Missense_Mutation SNP A G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr8:145699739A>G uc003zdc.2 - 3 1559 c.980T>C c.(979-981)CTA>CCA p.L327P NM_003923 NP_003914 O75593 FOXH1_HUMAN forkhead box H1 327 SMAD-interaction domain (SID).|SMAD interaction motif (SIM). axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway activin responsive factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding 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;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) GAGGGCGTCTAGATCGCAGAG 0.677 11 40 --- --- --- --- PASS KIAA2026 158358 broad.mit.edu 37 9 5968861 5968861 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr9:5968861C>A uc003zjq.3 - 3 1586 c.1370G>T c.(1369-1371)AGG>ATG p.R457M NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 457 p.V457F(1) ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) AATAACTTCCCTGCATTCATG 0.388 19 10 --- --- --- --- PASS HAUS6 54801 broad.mit.edu 37 9 19089422 19089422 + Missense_Mutation SNP T C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr9:19089422T>C uc003znk.2 - 5 825 c.572A>G c.(571-573)CAG>CGG p.Q191R HAUS6_uc003znl.1_Missense_Mutation_p.Q55R NM_017645 NP_060115 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 191 Potential. cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle ovary(2) 2 TGCATTTTCCTGATATTTTTG 0.348 3 37 --- --- --- --- PASS CDKN2A 1029 broad.mit.edu 37 9 21994138 21994138 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr9:21994138C>A uc003zpl.2 - 1 353 c.316G>T c.(316-318)GGT>TGT p.G106C MTAP_uc003zpi.1_Intron|CDKN2BAS_uc010miw.1_5'Flank|CDKN2BAS_uc010mix.1_5'Flank|CDKN2BAS_uc003zpm.2_5'Flank NM_058195 NP_478102 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 4 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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?(197)|p.V106V(2)|p.V106M(2) 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) CCTTTCCTACCTGGTCTTCTA 0.602 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) 7 10 --- --- --- --- PASS DMRTA1 63951 broad.mit.edu 37 9 22451417 22451417 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr9:22451417G>T uc003zpp.1 + 2 1247 c.1022G>T c.(1021-1023)AGG>ATG p.R341M NM_022160 NP_071443 Q5VZB9 DMRTA_HUMAN DMRT-like family A1 341 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|skin(1) 2 all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563) GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517) CCAAATTACAGGCGCAGCCGG 0.483 19 19 --- --- --- --- PASS ELAVL2 1993 broad.mit.edu 37 9 23692818 23692818 + Missense_Mutation SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr9:23692818C>T uc003zpu.2 - 7 1092 c.817G>A c.(817-819)GGA>AGA p.G273R ELAVL2_uc003zps.2_Missense_Mutation_p.G260R|ELAVL2_uc003zpt.2_Missense_Mutation_p.G260R|ELAVL2_uc003zpv.2_Missense_Mutation_p.G273R|ELAVL2_uc003zpw.2_Missense_Mutation_p.G260R NM_004432 NP_004423 Q12926 ELAV2_HUMAN ELAV (embryonic lethal, abnormal vision, 273 regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) CACCCTGTTCCAGGGTGCCCA 0.458 25 28 --- --- --- --- PASS B4GALT1 2683 broad.mit.edu 37 9 33166879 33166879 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr9:33166879C>A uc003zsg.2 - 1 478 c.289G>T c.(289-291)GGT>TGT p.G97C NM_001497 NP_001488 P15291 B4GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 97 Lumenal (Potential). SSQPRPGGDSSPVVDSGPGPASNLT -> GKHAKSSFKQFL LQIKELSNPIDLD (in Ref. 6; AAA68219). oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity 0 LUSC - Lung squamous cell carcinoma(29;0.0084) GBM - Glioblastoma multiforme(74;0.121) N-Acetyl-D-glucosamine(DB00141) GAGTCGCCACCCGGGCGCGGC 0.741 3 4 --- --- --- --- PASS C9orf89 84270 broad.mit.edu 37 9 95872957 95872957 + Silent SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr9:95872957C>T uc004atd.2 + 3 436 c.258C>T c.(256-258)ATC>ATT p.I86I C9orf89_uc004ate.2_RNA|C9orf89_uc004atf.2_RNA NM_032310 NP_115686 Q96LW7 BINCA_HUMAN chromosome 9 open reading frame 89 86 CARD. negative regulation of I-kappaB kinase/NF-kappaB cascade cytosol|nucleus CARD domain binding 0 CCCTGTATATCCAtgcccagc 0.517 8 33 --- --- --- --- PASS ZNF462 58499 broad.mit.edu 37 9 109773256 109773256 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr9:109773256G>T uc004bcz.2 + 13 7755 c.7466G>T c.(7465-7467)TGT>TTT p.C2489F ZNF462_uc010mto.2_Missense_Mutation_p.C2398F|ZNF462_uc004bda.2_Missense_Mutation_p.C2397F|ZNF462_uc011lvz.1_Missense_Mutation_p.C446F|uc004bdc.1_Intron NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 2489 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 GTAGCCATCTGTGTAGTAACT 0.413 13 27 --- --- --- --- PASS DBC1 1620 broad.mit.edu 37 9 121929944 121929944 + Missense_Mutation SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr9:121929944G>C uc004bkc.2 - 8 2160 c.1704C>G c.(1702-1704)AGC>AGG p.S568R NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 568 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 AATGGCTCCCGCTAAAGGGGT 0.557 5 32 --- --- --- --- PASS NUP188 23511 broad.mit.edu 37 9 131730888 131730888 + Missense_Mutation SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr9:131730888G>C uc004bws.1 + 9 711 c.689G>C c.(688-690)AGT>ACT p.S230T NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 230 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 ATGGCACCCAGTGACTTACTT 0.433 18 45 --- --- --- --- PASS POMT1 10585 broad.mit.edu 37 9 134394307 134394307 + Silent SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr9:134394307C>T uc004cav.2 + 15 1717 c.1515C>T c.(1513-1515)AGC>AGT p.S505S POMT1_uc004cax.2_Silent_p.S483S|POMT1_uc011mcj.1_Silent_p.S261S|POMT1_uc004cau.2_Silent_p.S483S|POMT1_uc004caw.2_Silent_p.S429S|POMT1_uc011mck.1_Silent_p.S366S|POMT1_uc011mcl.1_Silent_p.S331S|POMT1_uc011mcm.1_Silent_p.S453S|POMT1_uc011mcn.1_3'UTR NM_007171 NP_009102 Q9Y6A1 POMT1_HUMAN protein-O-mannosyltransferase 1 isoform a 505 MIR 3. multicellular organismal development|protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding upper_aerodigestive_tract(1) 1 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259) ACCACGGGAGCACGGTGTGGA 0.627 12 40 --- --- --- --- PASS KCNT1 57582 broad.mit.edu 37 9 138669247 138669247 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr9:138669247G>A uc011mdq.1 + 21 2487 c.2413G>A c.(2413-2415)GTC>ATC p.V805I KCNT1_uc011mdr.1_Missense_Mutation_p.V632I|KCNT1_uc010nbf.2_Missense_Mutation_p.V760I|KCNT1_uc004cgo.1_Missense_Mutation_p.V554I NM_020822 NP_065873 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 805 membrane binding|calcium-activated potassium channel activity large_intestine(2)|ovary(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) GCTGATCATCGTCTCGGCAGA 0.512 18 28 --- --- --- --- PASS NOTCH1 4851 broad.mit.edu 37 9 139405214 139405214 + Silent SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr9:139405214C>A uc004chz.2 - 17 2631 c.2631G>T c.(2629-2631)CCG>CCT p.P877P NOTCH1_uc004cia.1_Silent_p.P107P NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 877 Extracellular (Potential).|EGF-like 23; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CGTGCCGGCACGGGCTCAGAA 0.692 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 8 24 --- --- --- --- PASS SEC61A2 55176 broad.mit.edu 37 10 12191907 12191907 + Missense_Mutation SNP T A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:12191907T>A uc001ile.2 + 6 556 c.409T>A c.(409-411)TAT>AAT p.Y137N SEC61A2_uc010qbq.1_Missense_Mutation_p.Y115N|SEC61A2_uc001ilf.3_RNA|SEC61A2_uc001ilh.3_RNA|SEC61A2_uc001ilg.3_Missense_Mutation_p.Y137N NM_018144 NP_060614 Q9H9S3 S61A2_HUMAN Sec61 alpha form 2 isoform a 137 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity ovary(1) 1 Renal(717;0.228) GACGGGGATGTATGGGGACCC 0.443 14 86 --- --- --- --- PASS CACNB2 783 broad.mit.edu 37 10 18825123 18825123 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:18825123C>A uc001ipr.2 + 12 1360 c.1300C>A c.(1300-1302)CCA>ACA p.P434T CACNB2_uc009xjz.1_Missense_Mutation_p.P184T|CACNB2_uc001ips.2_Missense_Mutation_p.P410T|CACNB2_uc001ipt.2_Missense_Mutation_p.P396T|CACNB2_uc001ipu.2_Missense_Mutation_p.P406T|CACNB2_uc001ipv.2_Missense_Mutation_p.P382T|CACNB2_uc009xka.1_Missense_Mutation_p.P368T|CACNB2_uc001ipw.2_Missense_Mutation_p.P341T|CACNB2_uc001ipx.2_Missense_Mutation_p.P379T|CACNB2_uc001ipz.2_Missense_Mutation_p.P356T|CACNB2_uc001ipy.2_Missense_Mutation_p.P380T|CACNB2_uc010qco.1_Missense_Mutation_p.P348T|CACNB2_uc001iqa.2_Missense_Mutation_p.P386T|NSUN6_uc001iqb.2_Intron NM_201596 NP_963890 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 434 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity large_intestine(1)|central_nervous_system(1)|skin(1) 3 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TCAGTGTCCTCCAGTAAGTTA 0.299 17 21 --- --- --- --- PASS PIP4K2A 5305 broad.mit.edu 37 10 22880610 22880610 + Missense_Mutation SNP A G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:22880610A>G uc001irl.3 - 4 688 c.440T>C c.(439-441)ATT>ACT p.I147T PIP4K2A_uc010qcu.1_5'UTR NM_005028 NP_005019 P48426 PI42A_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 147 PIPK. 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding ovary(1)|skin(1) 2 TTCACTGGTAATAGTCTTGAT 0.463 10 80 --- --- --- --- PASS SVIL 6840 broad.mit.edu 37 10 29813479 29813479 + Silent SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:29813479C>A uc001iut.1 - 14 3261 c.2508G>T c.(2506-2508)CGG>CGT p.R836R SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Silent_p.R410R NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 836 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) CTATTCTGTTCCGGGTAGAAA 0.498 10 67 --- --- --- --- PASS C10orf68 79741 broad.mit.edu 37 10 33103303 33103303 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:33103303G>A uc001iwn.3 + 12 1389 c.916G>A c.(916-918)GAT>AAT p.D306N C10orf68_uc001iwl.1_Intron|C10orf68_uc001iwm.1_Missense_Mutation_p.D282N|C10orf68_uc010qei.1_Missense_Mutation_p.D254N|C10orf68_uc001iwo.3_RNA NM_024688 NP_078964 Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 306 skin(2)|ovary(1) 3 TATAGGGCCTGATATAGAACA 0.348 46 61 --- --- --- --- PASS C10orf68 79741 broad.mit.edu 37 10 33103304 33103304 + Missense_Mutation SNP A T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:33103304A>T uc001iwn.3 + 12 1390 c.917A>T c.(916-918)GAT>GTT p.D306V C10orf68_uc001iwl.1_Intron|C10orf68_uc001iwm.1_Missense_Mutation_p.D282V|C10orf68_uc010qei.1_Missense_Mutation_p.D254V|C10orf68_uc001iwo.3_RNA NM_024688 NP_078964 Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 306 skin(2)|ovary(1) 3 ATAGGGCCTGATATAGAACAA 0.343 45 62 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37442556 37442556 + Silent SNP A G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:37442556A>G uc001iza.1 + 13 1695 c.1596A>G c.(1594-1596)CAA>CAG p.Q532Q NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 588 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 CTACACATCAAAAAGAAATAG 0.308 6 148 --- --- --- --- PASS CSGALNACT2 55454 broad.mit.edu 37 10 43678762 43678762 + Missense_Mutation SNP A T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:43678762A>T uc001jan.2 + 8 1736 c.1401A>T c.(1399-1401)TTA>TTT p.L467F NM_018590 NP_061060 Q8N6G5 CGAT2_HUMAN chondroitin sulfate 467 Lumenal (Potential). chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding ovary(1) 1 GAAAATACTTACATGGTGACC 0.458 65 80 --- --- --- --- PASS ZNF488 118738 broad.mit.edu 37 10 48370751 48370751 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:48370751G>T uc001jex.2 + 2 381 c.219G>T c.(217-219)GAG>GAT p.E73D ZNF488_uc001jey.2_Intron NM_153034 NP_694579 Q96MN9 ZN488_HUMAN zinc finger protein 488 73 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GCAGTGCGGAGCTGGCACTGT 0.701 5 28 --- --- --- --- PASS RBP3 5949 broad.mit.edu 37 10 48390116 48390116 + Silent SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:48390116C>T uc001jez.2 - 1 876 c.762G>A c.(760-762)GTG>GTA p.V254V NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 254 4 X approximate tandem repeats.|1. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) GCTCGCCCACCACGATGGCCC 0.662 11 21 --- --- --- --- PASS MAPK8 5599 broad.mit.edu 37 10 49618206 49618206 + Missense_Mutation SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:49618206C>T uc009xnz.2 + 5 669 c.445C>T c.(445-447)CAT>TAT p.H149Y MAPK8_uc001jgl.2_Missense_Mutation_p.H149Y|MAPK8_uc001jgm.2_Missense_Mutation_p.H149Y|MAPK8_uc001jgo.2_Missense_Mutation_p.H149Y|MAPK8_uc009xoa.2_Missense_Mutation_p.H149Y|MAPK8_uc001jgn.2_Missense_Mutation_p.H149Y|MAPK8_uc010qgk.1_Missense_Mutation_p.H149Y|MAPK8_uc001jgp.2_Missense_Mutation_p.H149Y|MAPK8_uc001jgq.2_Missense_Mutation_p.H149Y NM_139047 NP_620635 P45983 MK08_HUMAN mitogen-activated protein kinase 8 isoform JNK1 149 Protein kinase. activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|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|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1) 8 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) TGGAATTATTCATCGGGTTAG 0.289 13 132 --- --- --- --- PASS CHAT 1103 broad.mit.edu 37 10 50854662 50854662 + Missense_Mutation SNP T A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:50854662T>A uc001jhz.2 + 8 1376 c.1223T>A c.(1222-1224)CTT>CAT p.L408H CHAT_uc001jhv.1_Missense_Mutation_p.L290H|CHAT_uc001jhx.1_Missense_Mutation_p.L290H|CHAT_uc001jhy.1_Missense_Mutation_p.L290H|CHAT_uc001jia.2_Missense_Mutation_p.L290H|CHAT_uc010qgs.1_Missense_Mutation_p.L290H NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 408 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3) 3 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CTCCAGCTCCTTCACGGCGGA 0.642 21 29 --- --- --- --- PASS ANK3 288 broad.mit.edu 37 10 62029914 62029914 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:62029914C>A uc001jky.2 - 5 680 c.488G>T c.(487-489)GGT>GTT p.G163V ANK3_uc010qih.1_Missense_Mutation_p.G146V|ANK3_uc001jkz.3_Missense_Mutation_p.G157V|ANK3_uc001jlb.1_5'UTR NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 163 ANK 3. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 CTGGCTTGCACCATTGTCAAG 0.398 34 42 --- --- --- --- PASS CTNNA3 29119 broad.mit.edu 37 10 68040337 68040337 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:68040337G>T uc009xpn.1 - 13 1898 c.1775C>A c.(1774-1776)GCC>GAC p.A592D CTNNA3_uc001jmw.2_Missense_Mutation_p.A592D NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 592 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 TTTGCTTAAGGCTTCCAAGGC 0.323 6 64 --- --- --- --- PASS NPFFR1 64106 broad.mit.edu 37 10 72026002 72026002 + Silent SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:72026002C>A uc010qjk.1 - 1 153 c.147G>T c.(145-147)GCG>GCT p.A49A NM_022146 NP_071429 Q9GZQ6 NPFF1_HUMAN neuropeptide FF receptor 1 51 Helical; Name=1; (Potential). integral to membrane|plasma membrane neuropeptide receptor activity 0 GGAAGATGAGCGCATAGGCCA 0.547 3 18 --- --- --- --- PASS KIAA0913 23053 broad.mit.edu 37 10 75549948 75549948 + Nonsense_Mutation SNP C G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:75549948C>G uc009xrl.2 + 7 871 c.839C>G c.(838-840)TCA>TGA p.S280* KIAA0913_uc001jve.2_Nonsense_Mutation_p.S280*|KIAA0913_uc001jvf.2_Nonsense_Mutation_p.S280*|KIAA0913_uc001jvh.2_5'Flank|KIAA0913_uc001jvi.2_5'Flank|KIAA0913_uc010qkr.1_5'Flank|KIAA0913_uc001jvj.2_5'Flank NM_015037 NP_055852 A7E2V4 K0913_HUMAN hypothetical protein LOC23053 280 zinc ion binding breast(1) 1 Prostate(51;0.0112) GCAGGGCCCTCAGCATCGGAC 0.532 6 36 --- --- --- --- PASS KIAA0913 23053 broad.mit.edu 37 10 75551984 75551984 + Missense_Mutation SNP C G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:75551984C>G uc009xrl.2 + 10 1719 c.1687C>G c.(1687-1689)CCC>GCC p.P563A KIAA0913_uc001jve.2_Missense_Mutation_p.P563A|KIAA0913_uc001jvf.2_Missense_Mutation_p.P563A|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_5'UTR|KIAA0913_uc010qkr.1_5'UTR|KIAA0913_uc001jvj.2_5'UTR NM_015037 NP_055852 A7E2V4 K0913_HUMAN hypothetical protein LOC23053 563 Gly-rich. zinc ion binding breast(1) 1 Prostate(51;0.0112) ACAGCGGGGTCCCCGCCGCCT 0.657 6 28 --- --- --- --- PASS CYP2C9 1559 broad.mit.edu 37 10 96745850 96745850 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:96745850C>A uc001kka.3 + 8 1235 c.1210C>A c.(1210-1212)CCA>ACA p.P404T CYP2C9_uc009xut.2_Missense_Mutation_p.P402T NM_000771 NP_000762 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, 404 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity skin(4)|ovary(2) 6 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) ATTTCCCAACCCAGAGATGTT 0.373 41 61 --- --- --- --- PASS SLIT1 6585 broad.mit.edu 37 10 98761031 98761031 + Silent SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:98761031G>A uc001kmw.2 - 37 4695 c.4443C>T c.(4441-4443)CGC>CGT p.R1481R NM_003061 NP_003052 O75093 SLIT1_HUMAN slit homolog 1 precursor 1481 CTCK. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding ovary(4) 4 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) ATGACAGGGGGCGCGTGGTCT 0.657 16 87 --- --- --- --- PASS CNNM1 26507 broad.mit.edu 37 10 101148047 101148047 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:101148047C>A uc001kpp.3 + 9 2952 c.2663C>A c.(2662-2664)CCC>CAC p.P888H CNNM1_uc010qpi.1_Missense_Mutation_p.P909H|CNNM1_uc009xwf.2_Intron|CNNM1_uc009xwg.2_Missense_Mutation_p.P288H NM_020348 NP_065081 Q9NRU3 CNNM1_HUMAN cyclin M1 888 ion transport integral to membrane|plasma membrane 0 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) GCAGCCGTTCCCACGAGAGCA 0.617 4 17 --- --- --- --- PASS C10orf2 56652 broad.mit.edu 37 10 102749641 102749641 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:102749641G>T uc001ksf.2 + 2 2159 c.1484G>T c.(1483-1485)AGG>ATG p.R495M MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Missense_Mutation_p.R495M|C10orf2_uc001ksi.2_Missense_Mutation_p.R41M|C10orf2_uc010qpv.1_Missense_Mutation_p.R41M|C10orf2_uc001ksh.2_RNA NM_021830 NP_068602 Q96RR1 PEO1_HUMAN twinkle isoform A 495 SF4 helicase. cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding ovary(1) 1 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) CAAAGCATCAGGTGAGACTCC 0.522 18 120 --- --- --- --- PASS ITPRIP 85450 broad.mit.edu 37 10 106075072 106075072 + Silent SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:106075072G>A uc001kye.2 - 2 811 c.738C>T c.(736-738)GTC>GTT p.V246V ITPRIP_uc001kyf.2_Silent_p.V246V|ITPRIP_uc001kyg.2_Silent_p.V246V NM_033397 NP_203755 Q8IWB1 IPRI_HUMAN inositol 1,4,5-triphosphate receptor interacting 246 plasma membrane 0 CATCGGCGCGGACCACCTTGA 0.657 20 22 --- --- --- --- PASS PNLIPRP3 119548 broad.mit.edu 37 10 118196264 118196264 + Missense_Mutation SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:118196264G>C uc001lcl.3 + 2 192 c.91G>C c.(91-93)GGT>CGT p.G31R NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 31 lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) TTTCAAAGATGGTTTACCATG 0.448 12 73 --- --- --- --- PASS PDZD8 118987 broad.mit.edu 37 10 119044594 119044594 + Silent SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:119044594G>A uc001lde.1 - 5 1849 c.1650C>T c.(1648-1650)CAC>CAT p.H550H NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 550 intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) GTGGTAGTGGGTGACTTCCTA 0.413 77 89 --- --- --- --- PASS SEC23IP 11196 broad.mit.edu 37 10 121692597 121692597 + Nonsense_Mutation SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:121692597C>T uc001leu.1 + 17 2911 c.2839C>T c.(2839-2841)CGA>TGA p.R947* SEC23IP_uc010qtc.1_Nonsense_Mutation_p.R736*|SEC23IP_uc009xzk.1_RNA NM_007190 NP_009121 Q9Y6Y8 S23IP_HUMAN Sec23-interacting protein p125 947 DDHD. Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding ovary(3) 3 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) TGGAGGCCGCCGAATTGACTA 0.363 35 32 --- --- --- --- PASS TACC2 10579 broad.mit.edu 37 10 123985957 123985957 + Missense_Mutation SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:123985957C>T uc001lfv.2 + 13 8045 c.7685C>T c.(7684-7686)TCT>TTT p.S2562F TACC2_uc001lfw.2_Missense_Mutation_p.S708F|TACC2_uc009xzx.2_Missense_Mutation_p.S2517F|TACC2_uc010qtv.1_Missense_Mutation_p.S2566F|TACC2_uc001lfx.2_Missense_Mutation_p.S266F|TACC2_uc001lfy.2_Missense_Mutation_p.S262F|TACC2_uc001lfz.2_Missense_Mutation_p.S640F|TACC2_uc001lga.2_Missense_Mutation_p.S640F|TACC2_uc009xzy.2_Missense_Mutation_p.S652F|TACC2_uc001lgb.2_Missense_Mutation_p.S597F|TACC2_uc010qtw.1_Missense_Mutation_p.S657F NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 2562 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) GTCAAGTCATCTCCCGTCCGC 0.517 5 19 --- --- --- --- PASS C10orf90 118611 broad.mit.edu 37 10 128193390 128193390 + Nonsense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:128193390C>A uc001ljq.2 - 3 500 c.379G>T c.(379-381)GAG>TAG p.E127* C10orf90_uc001ljp.2_Nonsense_Mutation_p.E80*|C10orf90_uc010qum.1_Nonsense_Mutation_p.E224*|C10orf90_uc009yao.2_Nonsense_Mutation_p.E224*|C10orf90_uc001ljs.1_Nonsense_Mutation_p.E80* NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN hypothetical protein LOC118611 127 ovary(1)|skin(1) 2 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) CAGGGTCTCTCCTCTTTGGGC 0.642 OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 44 --- --- --- --- PASS STK32C 282974 broad.mit.edu 37 10 134036456 134036456 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:134036456C>A uc001lle.1 - 9 1168 c.1028G>T c.(1027-1029)AGC>ATC p.S343I STK32C_uc001lld.1_Missense_Mutation_p.S226I|STK32C_uc010quu.1_Missense_Mutation_p.S356I|STK32C_uc001llb.2_Missense_Mutation_p.S114I|STK32C_uc001llc.1_RNA NM_173575 NP_775846 Q86UX6 ST32C_HUMAN serine/threonine kinase 32C 343 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|breast(1) 5 all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203) Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222) GTCCTGGAGGCTGGAGAGCCG 0.687 4 1 --- --- --- --- PASS NKX6-2 84504 broad.mit.edu 37 10 134598853 134598853 + Silent SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:134598853G>T uc001llr.2 - 2 595 c.510C>A c.(508-510)ACC>ACA p.T170T NM_177400 NP_796374 Q9C056 NKX62_HUMAN NK6 transcription factor related, locus 2 170 Homeobox. nucleus sequence-specific DNA binding transcription factor activity 0 all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05) CCAGGTACTTGGTCTGCTCGA 0.687 3 9 --- --- --- --- PASS MUC2 4583 broad.mit.edu 37 11 1097290 1097290 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:1097290G>T uc001lsx.1 + 38 13819 c.13792G>T c.(13792-13794)GTC>TTC p.V4598F NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 4598 VWFD 4. inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GGGTGTCCTCGTCTCCTACAA 0.612 13 18 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1265969 1265969 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:1265969C>A uc009ycr.1 + 48 9899 c.9773C>A c.(9772-9774)CCC>CAC p.P3258H MUC5B_uc001ltb.2_Missense_Mutation_p.P2623H NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 2620 7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. Missing (in Ref. 6; AAB61398). 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) ACAGCCACCCCCTCCTCCAGC 0.652 25 27 --- --- --- --- PASS OR51A4 401666 broad.mit.edu 37 11 4967860 4967860 + Silent SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:4967860C>T uc010qys.1 - 1 471 c.471G>A c.(469-471)CTG>CTA p.L157L NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, 157 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AGGGAAGAACCAGGAGCATGC 0.438 16 50 --- --- --- --- PASS OR51A2 401667 broad.mit.edu 37 11 4976473 4976473 + Silent SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:4976473C>T uc010qyt.1 - 1 471 c.471G>A c.(469-471)CTG>CTA p.L157L NM_001004748 NP_001004748 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, 157 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AGGGAAGAACCAGGAGCATGC 0.438 34 163 --- --- --- --- PASS MMP26 56547 broad.mit.edu 37 11 5013285 5013285 + Silent SNP T A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:5013285T>A uc001lzv.2 + 5 705 c.687T>A c.(685-687)ACT>ACA p.T229T NM_021801 NP_068573 Q9NRE1 MMP26_HUMAN matrix metalloproteinase 26 preproprotein 229 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) TGTACCCCACTTACTGGTATC 0.468 11 24 --- --- --- --- PASS FAM160A2 84067 broad.mit.edu 37 11 6245432 6245432 + Missense_Mutation SNP C G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:6245432C>G uc001mcl.3 - 3 544 c.185G>C c.(184-186)GGT>GCT p.G62A FAM160A2_uc001mck.3_Missense_Mutation_p.G62A|FAM160A2_uc001mcm.2_Missense_Mutation_p.G62A NM_001098794 NP_001092264 Q8N612 F16A2_HUMAN hypothetical protein LOC84067 isoform 2 62 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding skin(2) 2 ATCGTCTGCACCCCCAGGAGC 0.572 15 29 --- --- --- --- PASS SMPD1 6609 broad.mit.edu 37 11 6412809 6412809 + Missense_Mutation SNP A G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:6412809A>G uc001mcw.2 + 2 688 c.514A>G c.(514-516)ATT>GTT p.I172V SMPD1_uc001mcv.1_Intron|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.I172V|SMPD1_uc009yew.2_Missense_Mutation_p.I171V NM_000543 NP_000534 P17405 ASM_HUMAN sphingomyelin phosphodiesterase 1, acid 170 cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction lysosome hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) Desipramine(DB01151) GCACTGGGACATTTTCTCATC 0.617 6 1 --- --- --- --- PASS OR10A4 283297 broad.mit.edu 37 11 6898584 6898584 + Missense_Mutation SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:6898584C>T uc010rat.1 + 1 706 c.706C>T c.(706-708)CAT>TAT p.H236Y NM_207186 NP_997069 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, 236 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TGAGGGGAAACATCAGGCATT 0.517 22 30 --- --- --- --- PASS NLRP14 338323 broad.mit.edu 37 11 7081200 7081200 + Silent SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:7081200G>T uc001mfb.1 + 9 3032 c.2709G>T c.(2707-2709)ACG>ACT p.T903T NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 903 LRR 7. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) AGAGCCTGACGCATCTGGATC 0.453 21 82 --- --- --- --- PASS NLRP10 338322 broad.mit.edu 37 11 7981634 7981634 + Nonsense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:7981634C>A uc001mfv.1 - 2 1542 c.1525G>T c.(1525-1527)GAG>TAG p.E509* NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 509 ATP binding lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGGGTCATCTCATCATTCCCT 0.493 23 32 --- --- --- --- PASS AMPD3 272 broad.mit.edu 37 11 10527417 10527417 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:10527417G>T uc001mio.1 + 15 2625 c.2290G>T c.(2290-2292)GCC>TCC p.A764S AMPD3_uc010rbz.1_Missense_Mutation_p.A605S|AMPD3_uc001min.1_Missense_Mutation_p.A773S|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.A771S|AMPD3_uc009yfy.2_Missense_Mutation_p.A764S NM_001025389 NP_001020560 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 isoform 1B 764 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding large_intestine(1)|ovary(1) 2 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) AGAGATCACCGCCTTGACCAA 0.433 22 25 --- --- --- --- PASS ANO5 203859 broad.mit.edu 37 11 22297660 22297660 + Missense_Mutation SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:22297660C>T uc001mqi.2 + 21 2752 c.2435C>T c.(2434-2436)CCT>CTT p.P812L ANO5_uc001mqj.2_Missense_Mutation_p.P811L NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 812 Extracellular (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 TACAGATATCCTCCTGATGAC 0.323 16 41 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 11 31086643 31086643 + Missense_Mutation SNP T C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:31086643T>C uc009yjk.1 - 7 769 c.700A>G c.(700-702)ACC>GCC p.T234A uc009yjl.1_Missense_Mutation_p.T162A|DCDC1_uc001msu.1_Missense_Mutation_p.T405A RecName: Full=Doublecortin domain-containing protein 5; TCTGTCTGGGTCACATCTACT 0.448 4 34 --- --- --- --- PASS C11orf74 119710 broad.mit.edu 37 11 36669697 36669697 + Missense_Mutation SNP A T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:36669697A>T uc001mwy.1 + 5 563 c.490A>T c.(490-492)ACG>TCG p.T164S C11orf74_uc010rfd.1_RNA|C11orf74_uc001mww.1_Missense_Mutation_p.T90S|C11orf74_uc001mwx.1_RNA|C11orf74_uc001mwz.1_Missense_Mutation_p.T90S|C11orf74_uc010rfe.1_RNA NM_138787 NP_620142 Q86VG3 CK074_HUMAN hypothetical protein LOC119710 164 0 all_lung(20;0.226) all_hematologic(20;0.0118) GGACAAACAGACGGAAGAGGT 0.448 46 48 --- --- --- --- PASS DGKZ 8525 broad.mit.edu 37 11 46399764 46399764 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:46399764G>T uc001ncn.1 + 27 3048 c.2923G>T c.(2923-2925)GCT>TCT p.A975S DGKZ_uc001nch.1_Missense_Mutation_p.A803S|DGKZ_uc010rgq.1_Missense_Mutation_p.A730S|DGKZ_uc001ncj.1_Missense_Mutation_p.A753S|DGKZ_uc010rgr.1_Missense_Mutation_p.A752S|DGKZ_uc001nck.1_Missense_Mutation_p.A565S|DGKZ_uc001ncl.2_Missense_Mutation_p.A787S|DGKZ_uc001ncm.2_Missense_Mutation_p.A786S|DGKZ_uc009yky.1_Missense_Mutation_p.A787S|DGKZ_uc010rgs.1_Missense_Mutation_p.A764S|MDK_uc009ykz.1_5'Flank|MDK_uc001nco.2_5'Flank NM_001105540 NP_001099010 Q13574 DGKZ_HUMAN diacylglycerol kinase zeta isoform 4 975 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding pancreas(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) GCAAGGGGATGCTGCACCCCC 0.647 3 11 --- --- --- --- PASS OR4X1 390113 broad.mit.edu 37 11 48285559 48285559 + Silent SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:48285559C>A uc010rht.1 + 1 147 c.147C>A c.(145-147)GCC>GCA p.A49A NM_001004726 NP_001004726 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, 49 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 CCATCCTGGCCAGCAAAGTGC 0.493 7 43 --- --- --- --- PASS OR4C16 219428 broad.mit.edu 37 11 55340018 55340018 + Missense_Mutation SNP T C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:55340018T>C uc010rih.1 + 1 415 c.415T>C c.(415-417)TGT>CGT p.C139R NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 139 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) CCAGTGGGTCTGTGGTGTTTT 0.512 29 87 --- --- --- --- PASS OR8H2 390151 broad.mit.edu 37 11 55872966 55872966 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:55872966G>T uc010riy.1 + 1 448 c.448G>T c.(448-450)GTG>TTG p.V150L NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 150 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) TGGGCCTTATGTGATTGGCTT 0.458 HNSCC(53;0.14) 82 92 --- --- --- --- PASS OR9Q1 219956 broad.mit.edu 37 11 57947063 57947063 + Silent SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:57947063C>A uc001nmj.2 + 3 463 c.147C>A c.(145-147)ATC>ATA p.I49I NM_001005212 NP_001005212 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, 49 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.222) TTATTCTGATCCTCATGGATC 0.453 31 106 --- --- --- --- PASS OR9Q2 219957 broad.mit.edu 37 11 57958292 57958292 + Silent SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:57958292C>A uc010rka.1 + 1 330 c.330C>A c.(328-330)ATC>ATA p.I110I NM_001005283 NP_001005283 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, 110 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1)|central_nervous_system(1) 4 Breast(21;0.0589) TTGCCTCCATCGACTGCTACC 0.592 41 54 --- --- --- --- PASS OR10Q1 219960 broad.mit.edu 37 11 57995641 57995641 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:57995641G>A uc010rkd.1 - 1 707 c.707C>T c.(706-708)GCC>GTC p.A236V NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, 236 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(21;0.0589) GCGGCCCTCGGCAGAACGGAT 0.627 13 14 --- --- --- --- PASS OR10Q1 219960 broad.mit.edu 37 11 57995753 57995753 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:57995753C>A uc010rkd.1 - 1 595 c.595G>T c.(595-597)GTG>TTG p.V199L NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, 199 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(21;0.0589) GCCTGGTGCACGCGGATGTCA 0.592 12 16 --- --- --- --- PASS OR5B3 441608 broad.mit.edu 37 11 58170746 58170746 + Missense_Mutation SNP A C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:58170746A>C uc010rkf.1 - 1 137 c.137T>G c.(136-138)TTG>TGG p.L46W NM_001005469 NP_001005469 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, 46 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) CCAGAATATCAATACAATAAT 0.423 41 40 --- --- --- --- PASS SLC22A9 114571 broad.mit.edu 37 11 63137701 63137701 + Missense_Mutation SNP C G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:63137701C>G uc001nww.2 + 1 441 c.173C>G c.(172-174)ACT>AGT p.T58S SLC22A9_uc001nwx.2_RNA NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion/cation 58 Extracellular (Potential). transmembrane transport integral to membrane breast(2)|large_intestine(1) 3 GACAATGACACTGTCTCTGAC 0.493 54 52 --- --- --- --- PASS KRTAP5-9 3846 broad.mit.edu 37 11 71259993 71259993 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:71259993G>T uc001oqs.1 + 1 528 c.290G>T c.(289-291)TGC>TTC p.C97F NM_005553 NP_005544 P26371 KRA59_HUMAN keratin associated protein 5-9 97 8 X 4 AA repeats of C-C-X-P. epidermis development keratin filament 0 TCATCCTGCTGCCAGTGCAGC 0.622 61 63 --- --- --- --- PASS CCDC89 220388 broad.mit.edu 37 11 85396052 85396052 + Silent SNP T A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:85396052T>A uc001pau.1 - 1 1269 c.1122A>T c.(1120-1122)CCA>CCT p.P374P NM_152723 NP_689936 Q8N998 CCD89_HUMAN coiled-coil domain containing 89 374 cytoplasm|nucleus 0 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) AACTTCCCTATGGAGAGAGAT 0.418 12 21 --- --- --- --- PASS PRSS23 11098 broad.mit.edu 37 11 86519020 86519020 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:86519020G>T uc001pcb.2 + 2 551 c.335G>T c.(334-336)GGG>GTG p.G112V PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.G80V NM_007173 NP_009104 O95084 PRS23_HUMAN protease, serine, 23 precursor 112 proteolysis extracellular region|nucleus serine-type endopeptidase activity central_nervous_system(1)|pancreas(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AGTGGAGATGGGGCCCAACAC 0.522 26 22 --- --- --- --- PASS GRM5 2915 broad.mit.edu 37 11 88780463 88780463 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:88780463G>A uc001pcq.2 - 1 778 c.578C>T c.(577-579)CCT>CTT p.P193L GRM5_uc009yvm.2_Missense_Mutation_p.P193L|GRM5_uc009yvn.1_Missense_Mutation_p.P193L NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 193 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) AGCATCTGAAGGCACAACCCT 0.458 26 27 --- --- --- --- PASS MMP12 4321 broad.mit.edu 37 11 102745647 102745647 + Silent SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:102745647C>A uc001phk.2 - 1 66 c.21G>T c.(19-21)CTG>CTT p.L7L NM_002426 NP_002417 P39900 MMP12_HUMAN matrix metalloproteinase 12 preproprotein 7 positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) CCTGCAGGAGCAGTATTAGAA 0.408 5 2 --- --- --- --- PASS GUCY1A2 2977 broad.mit.edu 37 11 106558379 106558379 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:106558379C>A uc001pjg.1 - 8 2485 c.2095G>T c.(2095-2097)GTA>TTA p.V699L GUCY1A2_uc010rvo.1_Missense_Mutation_p.V720L|GUCY1A2_uc009yxn.1_Missense_Mutation_p.V730L NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 699 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) CCAGTCCTTACCTCCAGGAAA 0.458 59 78 --- --- --- --- PASS APOA4 337 broad.mit.edu 37 11 116691973 116691973 + Silent SNP C G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:116691973C>G uc001pps.1 - 3 905 c.801G>C c.(799-801)CTG>CTC p.L267L NM_000482 NP_000473 apolipoprotein A-IV precursor 0 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) CCAAGGGCGCCAGCCTCTGCC 0.657 19 31 --- --- --- --- PASS ZNF202 7753 broad.mit.edu 37 11 123597134 123597134 + Silent SNP T C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:123597134T>C uc001pzd.1 - 9 1918 c.1518A>G c.(1516-1518)GAA>GAG p.E506E ZNF202_uc001pzc.1_Silent_p.E282E|ZNF202_uc001pze.1_Silent_p.E506E|ZNF202_uc001pzf.1_Silent_p.E506E NM_003455 NP_003446 O95125 ZN202_HUMAN zinc finger protein 202 506 lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) AGAAGGGTTTTTCTCCAGTAT 0.453 22 67 --- --- --- --- PASS KCNJ5 3762 broad.mit.edu 37 11 128781668 128781668 + Missense_Mutation SNP T C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:128781668T>C uc001qet.2 + 2 814 c.500T>C c.(499-501)CTC>CCC p.L167P KCNJ5_uc009zck.2_Missense_Mutation_p.L167P|KCNJ5_uc001qew.2_Missense_Mutation_p.L167P NM_000890 NP_000881 P48544 IRK5_HUMAN potassium inwardly-rectifying channel J5 167 Helical; Name=M2; (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) GGGATTATACTCCTCTTGGTC 0.537 29 99 --- --- --- --- PASS OPCML 4978 broad.mit.edu 37 11 132307179 132307179 + Missense_Mutation SNP C G G rs148167692 TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:132307179C>G uc001qgs.2 - 4 651 c.601G>C c.(601-603)GAA>CAA p.E201Q OPCML_uc001qgu.2_Missense_Mutation_p.E194Q|OPCML_uc010sck.1_Missense_Mutation_p.E201Q|OPCML_uc001qgt.2_Missense_Mutation_p.E200Q|OPCML_uc010scl.1_Missense_Mutation_p.E160Q NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 201 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity p.E201K(1) ovary(2)|skin(1) 3 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) GCGCTGCATTCGTACTCCCCG 0.532 33 15 --- --- --- --- PASS KCNA5 3741 broad.mit.edu 37 12 5154550 5154550 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr12:5154550C>A uc001qni.2 + 1 1466 c.1237C>A c.(1237-1239)CTC>ATC p.L413I NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 413 Helical; Voltage-sensor; Name=Segment S4; (Potential). Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 CATCTTCAAGCTCTCCCGCCA 0.642 7 7 --- --- --- --- PASS VWF 7450 broad.mit.edu 37 12 6184682 6184682 + Silent SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr12:6184682G>A uc001qnn.1 - 7 943 c.693C>T c.(691-693)ACC>ACT p.T231T VWF_uc010set.1_Silent_p.T231T NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 231 VWFD 1. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CAAACACCGAGGTGCTCTTCA 0.627 13 8 --- --- --- --- PASS CD163 9332 broad.mit.edu 37 12 7639250 7639250 + Missense_Mutation SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr12:7639250G>C uc001qsz.3 - 10 2431 c.2303C>G c.(2302-2304)GCC>GGC p.A768G CD163_uc001qta.3_Missense_Mutation_p.A768G|CD163_uc009zfw.2_Missense_Mutation_p.A801G NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 768 SRCR 7.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 AGAACCAGTGGCATTAATGGC 0.537 72 80 --- --- --- --- PASS APOBEC1 339 broad.mit.edu 37 12 7805255 7805255 + Missense_Mutation SNP C G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr12:7805255C>G uc001qtb.2 - 3 255 c.221G>C c.(220-222)AGA>ACA p.R74T APOBEC1_uc001qtc.2_Missense_Mutation_p.R29T|APOBEC1_uc010sgf.1_Missense_Mutation_p.R74T NM_001644 NP_001635 P41238 ABEC1_HUMAN apolipoprotein B mRNA editing enzyme 74 cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm cytidine deaminase activity|RNA binding|zinc ion binding 0 GTGAAAATCTCTTTCTGACGt 0.473 11 18 --- --- --- --- PASS GYS2 2998 broad.mit.edu 37 12 21693479 21693479 + Silent SNP A T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr12:21693479A>T uc001rfb.2 - 14 1929 c.1674T>A c.(1672-1674)CGT>CGA p.R558R NM_021957 NP_068776 P54840 GYS2_HUMAN glycogen synthase 2 558 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity lung(1)|skin(1) 2 CATCTGGAGAACGGAACCGCC 0.423 56 37 --- --- --- --- PASS GYS2 2998 broad.mit.edu 37 12 21699353 21699353 + Missense_Mutation SNP C G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr12:21699353C>G uc001rfb.2 - 12 1729 c.1474G>C c.(1474-1476)GAC>CAC p.D492H NM_021957 NP_068776 P54840 GYS2_HUMAN glycogen synthase 2 492 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity lung(1)|skin(1) 2 TCTTCATAGTCCATGGGTAGT 0.378 8 17 --- --- --- --- PASS BICD1 636 broad.mit.edu 37 12 32481359 32481359 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr12:32481359G>T uc001rku.2 + 5 2051 c.1970G>T c.(1969-1971)CGG>CTG p.R657L BICD1_uc001rkv.2_Missense_Mutation_p.R657L|BICD1_uc010skd.1_RNA NM_001714 NP_001705 Q96G01 BICD1_HUMAN bicaudal D homolog 1 isoform 1 657 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton p.R657Q(1) large_intestine(1)|central_nervous_system(1) 2 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) GCAGCGGCTCGGGAGCTAGCC 0.502 42 27 --- --- --- --- PASS LIMA1 51474 broad.mit.edu 37 12 50642452 50642452 + Missense_Mutation SNP T C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr12:50642452T>C uc001rwj.3 - 2 257 c.83A>G c.(82-84)AAG>AGG p.K28R LIMA1_uc001rwk.3_Missense_Mutation_p.K28R|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA NM_016357 NP_057441 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 isoform b 28 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding ovary(1) 1 TGACTTGTTCTTGTTGACAAG 0.443 45 32 --- --- --- --- PASS DIP2B 57609 broad.mit.edu 37 12 51089048 51089048 + Splice_Site SNP A C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr12:51089048A>C uc001rwv.2 + 15 1876 c.1720_splice c.e15-2 p.N574_splice DIP2B_uc009zlt.2_Splice_Site_p.N4_splice NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 TTTGTTTTTCAGAATGTAATG 0.313 58 34 --- --- --- --- PASS OR6C6 283365 broad.mit.edu 37 12 55688865 55688865 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr12:55688865G>T uc010sph.1 - 1 152 c.152C>A c.(151-153)CCC>CAC p.P51H NM_001005493 NP_001005493 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, 51 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|skin(1) 2 CTTGAGCCGGGGATCCAGCAG 0.413 16 19 --- --- --- --- PASS LRP1 4035 broad.mit.edu 37 12 57563000 57563000 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr12:57563000G>T uc001snd.2 + 20 3539 c.3073G>T c.(3073-3075)GGG>TGG p.G1025W LRP1_uc009zpi.1_RNA NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 1025 LDL-receptor class A 7.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GTGCAACAGCGGGCGTTGCAT 0.602 29 29 --- --- --- --- PASS LRP1 4035 broad.mit.edu 37 12 57573861 57573861 + Missense_Mutation SNP A T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr12:57573861A>T uc001snd.2 + 31 5639 c.5173A>T c.(5173-5175)AGC>TGC p.S1725C NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 1725 LDL-receptor class B 15.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGACAACATCAGCATGGCCAA 0.637 73 58 --- --- --- --- PASS IRAK3 11213 broad.mit.edu 37 12 66620557 66620557 + Silent SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr12:66620557G>A uc001sth.2 + 7 810 c.708G>A c.(706-708)AAG>AAA p.K236K IRAK3_uc010ssy.1_Silent_p.K175K NM_007199 NP_009130 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 236 Protein kinase. interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity lung(3)|ovary(2)|breast(2)|central_nervous_system(1) 8 GBM - Glioblastoma multiforme(28;0.0203) AGACTGAGAAGTTCTGTCTGA 0.363 29 21 --- --- --- --- PASS GRIP1 23426 broad.mit.edu 37 12 66788127 66788127 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr12:66788127G>T uc001stk.2 - 16 2075 c.1834C>A c.(1834-1836)CAA>AAA p.Q612K GRIP1_uc010sta.1_Missense_Mutation_p.Q556K|GRIP1_uc001stj.2_Missense_Mutation_p.Q394K|GRIP1_uc001stl.1_Missense_Mutation_p.Q504K|GRIP1_uc001stm.2_Missense_Mutation_p.Q612K NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 664 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) GAACTTTCTTGCTCATCTGTA 0.388 24 17 --- --- --- --- PASS CNOT2 4848 broad.mit.edu 37 12 70732322 70732322 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr12:70732322G>T uc001svv.2 + 10 1579 c.1000G>T c.(1000-1002)GGG>TGG p.G334W CNOT2_uc009zro.2_Missense_Mutation_p.G334W|CNOT2_uc009zrp.2_Missense_Mutation_p.G314W|CNOT2_uc009zrq.2_Missense_Mutation_p.G334W|CNOT2_uc001svw.1_Missense_Mutation_p.G74W NM_014515 NP_055330 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 334 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity 0 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) GCAGAAAAAAGGGATCCAGGT 0.323 32 34 --- --- --- --- PASS TMTC2 160335 broad.mit.edu 37 12 83289921 83289921 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr12:83289921G>T uc001szt.2 + 3 1411 c.979G>T c.(979-981)GGT>TGT p.G327C TMTC2_uc001szr.1_Missense_Mutation_p.G327C|TMTC2_uc001szs.1_Missense_Mutation_p.G327C|TMTC2_uc010suk.1_Missense_Mutation_p.G82C NM_152588 NP_689801 Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat 327 Helical; (Potential). endoplasmic reticulum|integral to membrane binding ovary(2) 2 TGCCTACTATGGTTTGAAGAG 0.463 45 37 --- --- --- --- PASS NTS 4922 broad.mit.edu 37 12 86272314 86272314 + Missense_Mutation SNP A C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr12:86272314A>C uc001tag.2 + 3 434 c.327A>C c.(325-327)AAA>AAC p.K109N NM_006183 NP_006174 P30990 NEUT_HUMAN neurotensin/neuromedin N preproprotein 109 regulation of blood vessel size|signal transduction extracellular region|soluble fraction|transport vesicle neuropeptide hormone activity 0 AGCTCCACAAAATCTGTCACA 0.363 37 22 --- --- --- --- PASS ATP2B1 490 broad.mit.edu 37 12 90020239 90020239 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr12:90020239C>A uc001tbh.2 - 7 1302 c.1121G>T c.(1120-1122)GGC>GTC p.G374V ATP2B1_uc001tbg.2_Missense_Mutation_p.G374V|ATP2B1_uc001tbf.2_Missense_Mutation_p.G44V NM_001682 NP_001673 P20020 AT2B1_HUMAN plasma membrane calcium ATPase 1 isoform 1b 374 Helical; (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 ACCTGCTTTGCCAATCTGAAC 0.318 24 21 --- --- --- --- PASS NDUFA12 55967 broad.mit.edu 37 12 95397373 95397373 + Silent SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr12:95397373G>A uc001tdl.2 - 1 139 c.84C>T c.(82-84)TTC>TTT p.F28F NM_018838 NP_061326 Q9UI09 NDUAC_HUMAN 13kDa differentiation-associated protein 28 respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport mitochondrial respiratory chain complex I electron carrier activity|NADH dehydrogenase (ubiquinone) activity 0 NADH(DB00157) CCGCCTACCTGAAAAAAACCC 0.612 14 85 --- --- --- --- PASS ELK3 2004 broad.mit.edu 37 12 96617398 96617398 + Silent SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr12:96617398G>A uc001teo.1 + 2 333 c.54G>A c.(52-54)CAG>CAA p.Q18Q NM_005230 NP_005221 P41970 ELK3_HUMAN ELK3 protein 18 ETS. negative regulation of transcription, DNA-dependent|signal transduction mitochondrion protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 all_cancers(2;0.00173) TGCTGGATCAGAAACATGAGC 0.527 22 21 --- --- --- --- PASS C12orf48 55010 broad.mit.edu 37 12 102589749 102589749 + Nonsense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr12:102589749G>T uc001tjf.2 + 11 1532 c.1420G>T c.(1420-1422)GGA>TGA p.G474* C12orf48_uc001tjg.2_Nonsense_Mutation_p.G393*|C12orf48_uc010swa.1_Nonsense_Mutation_p.G551*|C12orf48_uc001tjh.2_Nonsense_Mutation_p.G393*|C12orf48_uc010swb.1_Missense_Mutation_p.W167L|C12orf48_uc009zuc.2_Nonsense_Mutation_p.G28*|C12orf48_uc001tjj.2_Nonsense_Mutation_p.G189*|C12orf48_uc001tjk.2_3'UTR|C12orf48_uc009zud.2_Missense_Mutation_p.W281L NM_017915 NP_060385 Q9NWS1 PR1BP_HUMAN hypothetical protein LOC55010 474 response to DNA damage stimulus cytoplasm|nucleus DNA binding 0 TCCATCTGTTGGAAGATCAAC 0.313 15 18 --- --- --- --- PASS HSP90B1 7184 broad.mit.edu 37 12 104327872 104327872 + Missense_Mutation SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr12:104327872G>C uc001tkb.1 + 5 655 c.550G>C c.(550-552)GAT>CAT p.D184H HSP90B1_uc010swg.1_Intron|HSP90B1_uc009zui.1_Missense_Mutation_p.D184H NM_003299 NP_003290 P14625 ENPL_HUMAN heat shock protein 90kDa beta, member 1 184 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding ovary(2)|skin(1) 3 Rifabutin(DB00615) AGCACAGGAAGATGGCCAGTC 0.423 6 82 --- --- --- --- PASS USP30 84749 broad.mit.edu 37 12 109520495 109520495 + Nonsense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr12:109520495G>T uc010sxi.1 + 10 999 c.895G>T c.(895-897)GAA>TAA p.E299* USP30_uc001tnu.3_Nonsense_Mutation_p.E268*|USP30_uc001tnw.3_Nonsense_Mutation_p.E16* NM_032663 NP_116052 Q70CQ3 UBP30_HUMAN ubiquitin specific peptidase 30 299 Cytoplasmic (Potential). ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial outer membrane cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(1) 1 GTTGAACGGGGAAAAGGTGGA 0.463 9 15 --- --- --- --- PASS DDX54 79039 broad.mit.edu 37 12 113612734 113612734 + Silent SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr12:113612734C>A uc001tup.2 - 9 910 c.882G>T c.(880-882)ACG>ACT p.T294T DDX54_uc001tuq.3_Silent_p.T294T NM_024072 NP_076977 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 294 Helicase ATP-binding. estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity skin(2)|central_nervous_system(1) 3 GCACGGGCTCCGTGAGGCCTG 0.488 OREG0022139 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 5 --- --- --- --- PASS MMP17 4326 broad.mit.edu 37 12 132335647 132335647 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr12:132335647G>T uc001ujc.1 + 10 1739 c.1640G>T c.(1639-1641)GGA>GTA p.G547V MMP17_uc001ujd.1_Missense_Mutation_p.G463V NM_016155 NP_057239 Q9ULZ9 MMP17_HUMAN matrix metalloproteinase 17 preproprotein 547 proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) GCCCCTCCAGGACAACATGAC 0.706 6 3 --- --- --- --- PASS BRCA2 675 broad.mit.edu 37 13 32914784 32914784 + Missense_Mutation SNP T A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr13:32914784T>A uc001uub.1 + 11 6519 c.6292T>A c.(6292-6294)TCT>ACT p.S2098T NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2098 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TTCACCTACGTCTAGACAAAA 0.348 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 16 30 --- --- --- --- PASS PCDH17 27253 broad.mit.edu 37 13 58208879 58208879 + Silent SNP G A A rs150039929 byFrequency TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr13:58208879G>A uc001vhq.1 + 1 3091 c.2199G>A c.(2197-2199)GAG>GAA p.E733E PCDH17_uc010aec.1_Silent_p.E733E NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 733 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GCAAGCGCGAGAACAAGGAGA 0.557 9 21 --- --- --- --- PASS KLHL1 57626 broad.mit.edu 37 13 70535578 70535578 + Splice_Site SNP T C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr13:70535578T>C uc001vip.2 - 3 1475 c.681_splice c.e3-1 p.R227_splice KLHL1_uc010thm.1_Splice_Site_p.R166_splice NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) AGAACAAGCCTGAAAGAGTCA 0.418 3 25 --- --- --- --- PASS CLYBL 171425 broad.mit.edu 37 13 100518518 100518518 + Missense_Mutation SNP T A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr13:100518518T>A uc001vok.2 + 6 673 c.659T>A c.(658-660)CTG>CAG p.L220Q CLYBL_uc010tix.1_Missense_Mutation_p.W221R|CLYBL_uc010tiy.1_Missense_Mutation_p.L186Q NM_206808 NP_996531 Q8N0X4 CLYBL_HUMAN citrate lyase beta like precursor 220 cellular aromatic compound metabolic process citrate lyase complex|mitochondrion citrate (pro-3S)-lyase activity|metal ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) AAAGAAACCCTGGATATTCTC 0.423 22 37 --- --- --- --- PASS CLYBL 171425 broad.mit.edu 37 13 100543577 100543577 + Silent SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr13:100543577C>A uc001vok.2 + 8 947 c.933C>A c.(931-933)GCC>GCA p.A311A NM_206808 NP_996531 Q8N0X4 CLYBL_HUMAN citrate lyase beta like precursor 311 cellular aromatic compound metabolic process citrate lyase complex|mitochondrion citrate (pro-3S)-lyase activity|metal ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TCCAGGGGGCCTTTACTTTCC 0.413 3 41 --- --- --- --- PASS OR4K14 122740 broad.mit.edu 37 14 20483023 20483023 + Silent SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr14:20483023C>A uc010tky.1 - 1 330 c.330G>T c.(328-330)GGG>GGT p.G110G NM_001004712 NP_001004712 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, 110 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) CCATCTCAGCCCCACCAGTAA 0.453 9 24 --- --- --- --- PASS OR10G3 26533 broad.mit.edu 37 14 22038649 22038649 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr14:22038649G>T uc010tmb.1 - 1 227 c.227C>A c.(226-228)TCC>TAC p.S76Y NM_001005465 NP_001005465 Q8NGC4 O10G3_HUMAN olfactory receptor, family 10, subfamily G, 76 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|central_nervous_system(1) 2 all_cancers(95;0.000987) GBM - Glioblastoma multiforme(265;0.0139) GACAATGATGGAGGAGATGCT 0.478 7 20 --- --- --- --- PASS C14orf93 60686 broad.mit.edu 37 14 23465173 23465173 + Missense_Mutation SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr14:23465173C>T uc001wib.1 - 3 1212 c.902G>A c.(901-903)CGG>CAG p.R301Q C14orf93_uc001wic.1_Missense_Mutation_p.R121Q|C14orf93_uc001wid.1_Missense_Mutation_p.R301Q|C14orf93_uc001wig.2_Missense_Mutation_p.R301Q|C14orf93_uc001wih.2_Missense_Mutation_p.R301Q|C14orf93_uc001wie.2_Missense_Mutation_p.R301Q|C14orf93_uc001wia.3_Missense_Mutation_p.R301Q|C14orf93_uc001wif.2_Missense_Mutation_p.R121Q NM_021944 NP_068763 Q9H972 CN093_HUMAN hypothetical protein LOC60686 precursor 301 extracellular region ovary(1) 1 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0127) TACAAGATCCCGCTTGCGCCT 0.527 10 65 --- --- --- --- PASS HEATR5A 25938 broad.mit.edu 37 14 31856449 31856449 + Missense_Mutation SNP A G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr14:31856449A>G uc001wrf.3 - 2 264 c.187T>C c.(187-189)TGC>CGC p.C63R HEATR5A_uc010ami.2_5'UTR|HEATR5A_uc001wrg.1_5'UTR|HEATR5A_uc010tpk.1_Missense_Mutation_p.C356R NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 350 binding ovary(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) CGGCGACAGCAGACGGCATCG 0.458 7 56 --- --- --- --- PASS NUBPL 80224 broad.mit.edu 37 14 32034246 32034246 + Missense_Mutation SNP A T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr14:32034246A>T uc001wrk.3 + 3 338 c.283A>T c.(283-285)AAC>TAC p.N95Y NUBPL_uc010amj.2_RNA NM_025152 NP_079428 Q8TB37 NUBPL_HUMAN nucleotide binding protein-like 95 mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis mitochondrion 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding 0 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0102) ACTAGCAGCGAACGATTCGGT 0.234 19 40 --- --- --- --- PASS NIN 51199 broad.mit.edu 37 14 51210134 51210134 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr14:51210134C>A uc001wym.2 - 24 5492 c.5301G>T c.(5299-5301)AAG>AAT p.K1767N NIN_uc001wyi.2_Missense_Mutation_p.K1767N|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.K1054N|NIN_uc010tqp.1_Missense_Mutation_p.K1773N|NIN_uc001wyo.2_Missense_Mutation_p.K1767N NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 1767 Potential. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) GTCCATGTACCTTTTCCTGAG 0.433 T PDGFRB MPD 14 25 --- --- --- --- PASS TRIM9 114088 broad.mit.edu 37 14 51446134 51446134 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr14:51446134G>T uc001wyx.3 - 9 2806 c.2041C>A c.(2041-2043)CCT>ACT p.P681T TRIM9_uc001wyy.2_Missense_Mutation_p.P762T NM_015163 NP_055978 Q9C026 TRIM9_HUMAN tripartite motif protein 9 isoform 1 681 B30.2/SPRY. proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding skin(2)|lung(1) 3 all_epithelial(31;0.00418)|Breast(41;0.148) CTGACCGCAGGGAAGAAGAGG 0.507 42 80 --- --- --- --- PASS TXNDC16 57544 broad.mit.edu 37 14 52907324 52907324 + Missense_Mutation SNP T G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr14:52907324T>G uc001wzs.2 - 19 2410 c.1961A>C c.(1960-1962)AAG>ACG p.K654T TXNDC16_uc010tqu.1_Missense_Mutation_p.K649T|TXNDC16_uc010aoe.2_RNA NM_020784 NP_065835 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 isoform 1 654 cell redox homeostasis extracellular region 0 Breast(41;0.0716) GTATTTCTGCTTTACCAGTGT 0.294 10 28 --- --- --- --- PASS PSMC6 5706 broad.mit.edu 37 14 53178142 53178142 + Missense_Mutation SNP A G G rs11545962 TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr14:53178142A>G uc010tqx.1 + 6 383 c.383A>G c.(382-384)GAG>GGG p.E128G PSMC6_uc010tqw.1_Missense_Mutation_p.E94G NM_002806 NP_002797 P62333 PRS10_HUMAN proteasome 26S ATPase subunit 6 114 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding, bridging lung(1) 1 Breast(41;0.176) TTGCCGAGAGAGGTGGATCCA 0.373 27 96 --- --- --- --- PASS SPTB 6710 broad.mit.edu 37 14 65249149 65249149 + Silent SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr14:65249149G>A uc001xht.2 - 19 4179 c.4125C>T c.(4123-4125)CTC>CTT p.L1375L SPTB_uc001xhr.2_Silent_p.L1375L|SPTB_uc001xhs.2_Silent_p.L1375L|SPTB_uc001xhu.2_Silent_p.L1375L|SPTB_uc010aqi.2_Silent_p.L36L NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 1375 Spectrin 11. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TGGCAGCCGAGAGGTGCTGGG 0.632 20 65 --- --- --- --- PASS PCNX 22990 broad.mit.edu 37 14 71514572 71514572 + Silent SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr14:71514572C>T uc001xmo.2 + 22 4655 c.4209C>T c.(4207-4209)TCC>TCT p.S1403S PCNX_uc010are.1_Silent_p.S1292S|PCNX_uc010arf.1_Silent_p.S263S NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 1403 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TGCTACGATCCTCTTTTAGCA 0.378 19 85 --- --- --- --- PASS LTBP2 4053 broad.mit.edu 37 14 75019063 75019063 + Missense_Mutation SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr14:75019063C>T uc001xqa.2 - 6 1613 c.1226G>A c.(1225-1227)CGC>CAC p.R409H NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 409 EGF-like 2. protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GCCGATGCAGCGGCCTCCGTT 0.642 6 20 --- --- --- --- PASS TMEM63C 57156 broad.mit.edu 37 14 77706943 77706943 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr14:77706943G>T uc001xtf.2 + 13 1268 c.1056G>T c.(1054-1056)ATG>ATT p.M352I TMEM63C_uc010asq.1_Missense_Mutation_p.M352I NM_020431 NP_065164 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 352 integral to membrane 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) ACTCCAGGATGGCCAAGCGGT 0.627 10 13 --- --- --- --- PASS C14orf174 161394 broad.mit.edu 37 14 77844701 77844701 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr14:77844701G>A uc001xtq.1 + 1 940 c.940G>A c.(940-942)GAC>AAC p.D314N TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank NM_001010860 NP_001010860 Q9P1V8 SAM15_HUMAN hypothetical protein LOC161394 314 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0278) AGACTTTCCAGACCACAAGCC 0.448 11 29 --- --- --- --- PASS KCNK13 56659 broad.mit.edu 37 14 90650582 90650582 + Silent SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr14:90650582C>A uc001xye.1 + 2 904 c.462C>A c.(460-462)GCC>GCA p.A154A NM_022054 NP_071337 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 154 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity skin(1) 1 all_cancers(154;0.186) CCATCATCGCCTACATCATGA 0.572 37 56 --- --- --- --- PASS SLC24A4 123041 broad.mit.edu 37 14 92909799 92909799 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr14:92909799C>A uc001yak.2 + 7 611 c.587C>A c.(586-588)TCT>TAT p.S196Y SLC24A4_uc001yai.2_Missense_Mutation_p.S149Y|SLC24A4_uc010twm.1_Missense_Mutation_p.S213Y|SLC24A4_uc001yaj.2_Missense_Mutation_p.S196Y|SLC24A4_uc010auj.2_Missense_Mutation_p.S104Y|SLC24A4_uc010twn.1_Translation_Start_Site NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN solute carrier family 24 member 4 isoform 1 213 Helical; (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) TACACCATCTCTGTCATCGTG 0.647 10 19 --- --- --- --- PASS KIAA1409 57578 broad.mit.edu 37 14 94053224 94053224 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr14:94053224C>A uc001ybv.1 + 19 2554 c.2471C>A c.(2470-2472)GCC>GAC p.A824D KIAA1409_uc001ybs.1_Missense_Mutation_p.A824D NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1001 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) CAATTTTTAGCCTACATTCAG 0.353 25 113 --- --- --- --- PASS SETD3 84193 broad.mit.edu 37 14 99879360 99879360 + Silent SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr14:99879360G>A uc001ygc.2 - 8 947 c.777C>T c.(775-777)CCC>CCT p.P259P SETD3_uc001ygd.2_Silent_p.P259P|SETD3_uc001ygf.2_Silent_p.P259P NM_032233 NP_115609 Q86TU7 SETD3_HUMAN SET domain containing 3 isoform a 259 SET. peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity 0 all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866) CATCCTCTGTGGGAATTTGGT 0.463 7 43 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33855210 33855210 + Missense_Mutation SNP A C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr15:33855210A>C uc001zhi.2 + 11 1215 c.1145A>C c.(1144-1146)AAG>ACG p.K382T RYR3_uc010bar.2_Missense_Mutation_p.K382T NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 382 Cytoplasmic (By similarity).|MIR 5. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTAAAAAGAAAGGTGAGAGTC 0.453 14 51 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33938613 33938613 + Missense_Mutation SNP T A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr15:33938613T>A uc001zhi.2 + 29 3897 c.3827T>A c.(3826-3828)TTT>TAT p.F1276Y RYR3_uc010bar.2_Missense_Mutation_p.F1276Y NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1276 4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CATAAGACATTTGGCACACAG 0.527 36 87 --- --- --- --- PASS C15orf41 84529 broad.mit.edu 37 15 36989588 36989588 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr15:36989588C>A uc001zje.3 + 8 791 c.541C>A c.(541-543)CTA>ATA p.L181I C15orf41_uc001zjd.2_Missense_Mutation_p.L181I|C15orf41_uc010bbb.1_Missense_Mutation_p.L83I|C15orf41_uc001zjf.2_Missense_Mutation_p.L83I|C15orf41_uc010uci.1_Missense_Mutation_p.L83I NM_001130010 NP_001123482 Q9Y2V0 CO041_HUMAN hypothetical protein LOC84529 isoform 1 181 protein binding pancreas(1) 1 all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222) all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11) CCTGTCCTTCCTAGGTAAGTA 0.408 13 52 --- --- --- --- PASS BUB1B 701 broad.mit.edu 37 15 40477472 40477472 + Silent SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr15:40477472G>A uc001zkx.3 + 7 1070 c.858G>A c.(856-858)GAG>GAA p.E286E BUB1B_uc010ucl.1_Silent_p.E149E NM_001211 NP_001202 O60566 BUB1B_HUMAN budding uninhibited by benzimidazoles 1 beta 286 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|kidney(1) 4 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) CTACAGCAGAGTTGTCTAAGC 0.483 Mis|N|F|S rhabdomyosarcoma Mosaic_Variegated_Aneuploidy_Syndrome 20 68 --- --- --- --- PASS PLCB2 5330 broad.mit.edu 37 15 40587238 40587238 + Missense_Mutation SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr15:40587238C>T uc001zld.2 - 18 2106 c.1805G>A c.(1804-1806)CGC>CAC p.R602H PLCB2_uc010bbo.2_Missense_Mutation_p.R598H|PLCB2_uc010ucm.1_Missense_Mutation_p.R602H NM_004573 NP_004564 Q00722 PLCB2_HUMAN phospholipase C, beta 2 602 PI-PLC Y-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3)|breast(3)|kidney(1)|pancreas(1) 8 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) GGGGTAAATGCGGCTCATCTG 0.567 4 94 --- --- --- --- PASS SPTBN5 51332 broad.mit.edu 37 15 42168377 42168377 + Missense_Mutation SNP T C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr15:42168377T>C uc001zos.2 - 21 4285 c.3952A>G c.(3952-3954)AAG>GAG p.K1318E NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1353 Spectrin 10. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) TCGTGCCGCTTGAGTGTCTGC 0.637 11 17 --- --- --- --- PASS SLC12A1 6557 broad.mit.edu 37 15 48533761 48533761 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr15:48533761C>A uc001zwn.3 + 10 1481 c.1265C>A c.(1264-1266)ACC>AAC p.T422N SLC12A1_uc010uew.1_Missense_Mutation_p.T228N|SLC12A1_uc010bem.2_Missense_Mutation_p.T422N|SLC12A1_uc001zwq.3_Missense_Mutation_p.T193N|SLC12A1_uc001zwr.3_Missense_Mutation_p.T149N NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 422 Helical; (Potential). potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) ATTTTCATCACCACTGTTGCC 0.448 26 95 --- --- --- --- PASS SCG3 29106 broad.mit.edu 37 15 51975481 51975481 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr15:51975481G>A uc002abh.2 + 4 655 c.247G>A c.(247-249)GAA>AAA p.E83K SCG3_uc010ufz.1_5'UTR NM_013243 NP_037375 Q8WXD2 SCG3_HUMAN secretogranin III isoform 1 precursor 83 platelet activation|platelet degranulation extracellular region|stored secretory granule ovary(1) 1 all cancers(107;0.00488) GGCAATAACAGAAAAGGAAAA 0.368 38 91 --- --- --- --- PASS CGNL1 84952 broad.mit.edu 37 15 57731420 57731420 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr15:57731420G>A uc002aeg.2 + 2 1299 c.1223G>A c.(1222-1224)AGT>AAT p.S408N CGNL1_uc010bfw.2_Missense_Mutation_p.S408N NM_032866 NP_116255 Q0VF96 CGNL1_HUMAN cingulin-like 1 408 Head. myosin complex|tight junction motor activity skin(6)|ovary(4)|central_nervous_system(1) 11 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) ATTGAATTCAGTAGGAACTTG 0.552 12 100 --- --- --- --- PASS SPG21 51324 broad.mit.edu 37 15 65273355 65273355 + Silent SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr15:65273355C>A uc002aod.2 - 3 165 c.72G>T c.(70-72)GTG>GTT p.V24V SPG21_uc002aoe.2_Silent_p.V24V|SPG21_uc010bhb.2_Silent_p.V24V|SPG21_uc010bhc.2_5'UTR NM_001127889 NP_001121361 Q9NZD8 SPG21_HUMAN spastic paraplegia 21 isoform a 24 cell death cytosol|endosome membrane|trans-Golgi network transport vesicle CD4 receptor binding 0 CATCATCATCCACAATAATCT 0.408 3 46 --- --- --- --- PASS ITGA11 22801 broad.mit.edu 37 15 68661615 68661615 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr15:68661615C>A uc002ari.2 - 3 259 c.172G>T c.(172-174)GTG>TTG p.V58L ITGA11_uc010bib.2_Missense_Mutation_p.V58L NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN integrin, alpha 11 precursor 58 FG-GAP 1.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity kidney(2)|pancreas(1) 3 Tirofiban(DB00775) GGGGCGCCCACGACCAGCCTG 0.562 13 20 --- --- --- --- PASS NOX5 79400 broad.mit.edu 37 15 69320642 69320642 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr15:69320642C>A uc002ars.1 + 3 282 c.262C>A c.(262-264)CTG>ATG p.L88M NOX5_uc002arp.1_Missense_Mutation_p.L70M|NOX5_uc002arq.1_Missense_Mutation_p.L70M|NOX5_uc010bid.1_Missense_Mutation_p.L81M|NOX5_uc002arr.1_Missense_Mutation_p.L88M|NOX5_uc010bie.1_Translation_Start_Site NM_024505 NP_078781 Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 88 Cytoplasmic (Potential).|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.|EF-hand 2. angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(1)|pancreas(1) 2 GGCACTGACCCTGCTCATCCA 0.557 64 62 --- --- --- --- PASS ARNT2 9915 broad.mit.edu 37 15 80762560 80762560 + Nonsense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr15:80762560G>T uc002bfr.2 + 4 362 c.196G>T c.(196-198)GAG>TAG p.E66* ARNT2_uc002bfq.2_Nonsense_Mutation_p.E66*|ARNT2_uc010unm.1_Nonsense_Mutation_p.E55*|ARNT2_uc002bfs.2_Nonsense_Mutation_p.E55* NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN aryl hydrocarbon receptor nuclear translocator 66 Basic motif. central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(3)|ovary(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.134) TCTGGAAAGAGAGAATCATAG 0.463 5 8 --- --- --- --- PASS NTRK3 4916 broad.mit.edu 37 15 88799374 88799374 + Missense_Mutation SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr15:88799374G>C uc002bme.1 - 2 173 c.11C>G c.(10-12)TCT>TGT p.S4C NTRK3_uc002bmh.2_Missense_Mutation_p.S4C|NTRK3_uc002bmf.1_Missense_Mutation_p.S4C|NTRK3_uc010bnh.1_Missense_Mutation_p.S4C|NTRK3_uc002bmg.2_Missense_Mutation_p.S4C NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 4 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) TGGGCAAAGAGAGACATCCAT 0.348 T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 7 21 --- --- --- --- PASS UQCRC2 7385 broad.mit.edu 37 16 21968570 21968570 + Silent SNP C G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr16:21968570C>G uc002djx.2 + 2 184 c.48C>G c.(46-48)CTC>CTG p.L16L UQCRC2_uc002djy.2_Silent_p.L16L|UQCRC2_uc010bxa.2_RNA NM_003366 NP_003357 P22695 QCR2_HUMAN ubiquinol-cytochrome c reductase core protein II 16 aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport metalloendopeptidase activity|zinc ion binding large_intestine(2) 2 GBM - Glioblastoma multiforme(48;0.0264) TTTATTCCCTCAAAGTTGCCC 0.458 5 26 --- --- --- --- PASS CACNG3 10368 broad.mit.edu 37 16 24358077 24358077 + Missense_Mutation SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr16:24358077G>C uc002dmf.2 + 2 1434 c.234G>C c.(232-234)AAG>AAC p.K78N NM_006539 NP_006530 O60359 CCG3_HUMAN voltage-dependent calcium channel gamma-3 78 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 complex voltage-gated calcium channel activity 0 GBM - Glioblastoma multiforme(48;0.0809) GCGTGTGCAAGAAAATCGATC 0.577 21 33 --- --- --- --- PASS XPO6 23214 broad.mit.edu 37 16 28123164 28123164 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr16:28123164G>A uc002dpa.1 - 17 2816 c.2315C>T c.(2314-2316)CCA>CTA p.P772L XPO6_uc002dpb.1_Missense_Mutation_p.P758L|XPO6_uc010vcp.1_Missense_Mutation_p.P772L NM_015171 NP_055986 Q96QU8 XPO6_HUMAN exportin 6 772 protein export from nucleus protein binding|protein transporter activity ovary(1)|skin(1) 2 CTTTCTCTGTGGGGCAACAGC 0.567 17 21 --- --- --- --- PASS IL27 246778 broad.mit.edu 37 16 28511049 28511049 + Silent SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr16:28511049G>T uc002dqc.2 - 5 678 c.655C>A c.(655-657)CGG>AGG p.R219R uc010vct.1_Intron NM_145659 NP_663634 Q8NEV9 IL27A_HUMAN interleukin 27 precursor 219 inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation extracellular space cytokine activity|interleukin-27 receptor binding 0 AGCAACTCCCGCACGGCCCGA 0.667 3 15 --- --- --- --- PASS ITGAX 3687 broad.mit.edu 37 16 31388586 31388586 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr16:31388586G>T uc002ebu.1 + 23 2856 c.2789G>T c.(2788-2790)AGC>ATC p.S930I ITGAX_uc002ebt.2_Missense_Mutation_p.S930I NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 930 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GTGGTTAGCAGGTCAGCAGGT 0.498 29 38 --- --- --- --- PASS ZNF267 10308 broad.mit.edu 37 16 31925796 31925796 + Splice_Site SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr16:31925796G>T uc002ecs.3 + 4 436 c.227_splice c.e4-1 p.D76_splice NM_003414 NP_003405 Q14586 ZN267_HUMAN zinc finger protein 267 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1)|skin(1) 4 ATATCTTTCAGATGTGTTTTC 0.318 10 33 --- --- --- --- PASS PHKB 5257 broad.mit.edu 37 16 47622821 47622821 + Silent SNP A T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr16:47622821A>T uc002eev.3 + 10 928 c.876A>T c.(874-876)ACA>ACT p.T292T PHKB_uc002eeu.3_Silent_p.T285T NM_000293 NP_000284 Q93100 KPBB_HUMAN phosphorylase kinase, beta isoform a 292 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity ovary(1)|large_intestine(1)|breast(1) 3 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) TCCAGAATACAGATGCTGCCC 0.443 24 32 --- --- --- --- PASS MMP2 4313 broad.mit.edu 37 16 55523690 55523690 + Silent SNP A T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr16:55523690A>T uc002ehz.3 + 7 1445 c.1134A>T c.(1132-1134)ACA>ACT p.T378T MMP2_uc010vhd.1_Silent_p.T302T|MMP2_uc010ccc.2_Silent_p.T328T NM_004530 NP_004521 P08253 MMP2_HUMAN matrix metalloproteinase 2 isoform a 378 Fibronectin type-II 3.|Collagen-binding. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 11 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) GTGCGACCACAGCCAACTACG 0.582 15 37 --- --- --- --- PASS SLC12A3 6559 broad.mit.edu 37 16 56926012 56926012 + Missense_Mutation SNP C G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr16:56926012C>G uc010ccm.2 + 20 2415 c.2386C>G c.(2386-2388)CCA>GCA p.P796A SLC12A3_uc002ekd.3_Missense_Mutation_p.P796A|SLC12A3_uc010ccn.2_Missense_Mutation_p.P795A NM_001126108 NP_001119580 P55017 S12A3_HUMAN solute carrier family 12, member 3 isoform 3 796 Cytoplasmic (Potential). sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity ovary(2)|breast(1) 3 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) CGTGTTTGACCCAGCGGAGGA 0.587 34 49 --- --- --- --- PASS CDH8 1006 broad.mit.edu 37 16 61859003 61859003 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr16:61859003C>A uc002eog.1 - 5 1000 c.748G>T c.(748-750)GGT>TGT p.G250C CDH8_uc002eoh.2_Missense_Mutation_p.G19C NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 250 Extracellular (Potential).|Cadherin 2. 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) GAGTGTCCACCCATATCTTTG 0.448 17 40 --- --- --- --- PASS CES3 23491 broad.mit.edu 37 16 66998388 66998388 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr16:66998388C>A uc002eqt.2 + 5 762 c.689C>A c.(688-690)GCC>GAC p.A230D CES3_uc010cdz.2_Missense_Mutation_p.A230D|CES3_uc010cea.2_RNA|CES3_uc010viw.1_5'Flank NM_024922 NP_079198 Q6UWW8 EST3_HUMAN carboxylesterase 3 precursor 230 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity ovary(3)|central_nervous_system(2) 5 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) GGTGGATCTGCCGGTGGGAGC 0.592 4 18 --- --- --- --- PASS ATP6V0D1 9114 broad.mit.edu 37 16 67487556 67487556 + Missense_Mutation SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr16:67487556G>C uc002ete.1 - 2 293 c.193C>G c.(193-195)CTG>GTG p.L65V ATP6V0D1_uc010vjo.1_Missense_Mutation_p.L65V|ATP6V0D1_uc010vjn.1_5'UTR NM_004691 NP_004682 P61421 VA0D1_HUMAN ATPase, H+ transporting, lysosomal, V0 subunit 65 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101) GACACCGTCAGAGGTGATGCC 0.542 14 48 --- --- --- --- PASS CDH1 999 broad.mit.edu 37 16 68844241 68844241 + Missense_Mutation SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr16:68844241C>T uc002ewg.1 + 6 953 c.829C>T c.(829-831)CCA>TCA p.P277S CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.P277S NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 277 Cadherin 2.|Extracellular (Potential). Missing (found in gastric carcinoma cell lines). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.G274_P277del(2)|p.?(2) breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) AGGTGCTCTTCCAGGTATATC 0.448 Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer 13 87 --- --- --- --- PASS PDPR 55066 broad.mit.edu 37 16 70170101 70170101 + Silent SNP T A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr16:70170101T>A uc002eyf.1 + 10 1959 c.1002T>A c.(1000-1002)CCT>CCA p.P334P CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Silent_p.P234P|PDPR_uc002eyg.1_Silent_p.P62P NM_017990 NP_060460 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory 334 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.124) GCTCAGAGCCTCTGTTGAGTT 0.443 4 9 --- --- --- --- PASS KARS 3735 broad.mit.edu 37 16 75665710 75665710 + Missense_Mutation SNP C G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr16:75665710C>G uc002feq.2 - 8 1007 c.959G>C c.(958-960)CGC>CCC p.R320P KARS_uc002fer.2_Missense_Mutation_p.R348P|KARS_uc002fes.2_Missense_Mutation_p.R164P NM_005548 NP_005539 Q15046 SYK_HUMAN lysyl-tRNA synthetase isoform 2 320 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding ovary(2) 2 L-Lysine(DB00123) CCGGAACTGGCGTCCAATTTC 0.438 28 110 --- --- --- --- PASS ADAMTS18 170692 broad.mit.edu 37 16 77375636 77375636 + Missense_Mutation SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr16:77375636G>C uc002ffc.3 - 11 2094 c.1675C>G c.(1675-1677)CCC>GCC p.P559A ADAMTS18_uc010chc.1_Missense_Mutation_p.P147A|ADAMTS18_uc002ffe.1_Missense_Mutation_p.P255A NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 559 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 TCTGCTGCGGGCATAAACTTG 0.413 11 34 --- --- --- --- PASS VAT1L 57687 broad.mit.edu 37 16 77850859 77850859 + Missense_Mutation SNP T C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr16:77850859T>C uc002ffg.1 + 2 372 c.275T>C c.(274-276)ATT>ACT p.I92T NM_020927 NP_065978 Q9HCJ6 VAT1L_HUMAN vesicle amine transport protein 1 homolog (T. 92 oxidoreductase activity|zinc ion binding central_nervous_system(1) 1 CAAGGGAATATTGACAACCCT 0.448 14 30 --- --- --- --- PASS FAM57A 79850 broad.mit.edu 37 17 641263 641263 + Silent SNP C G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr17:641263C>G uc002frp.2 + 3 425 c.384C>G c.(382-384)CTC>CTG p.L128L FAM57A_uc002frq.2_Silent_p.L128L|FAM57A_uc002frr.2_Silent_p.L38L NM_024792 NP_079068 Q8TBR7 FA57A_HUMAN family with sequence similarity 57, member A 128 TLC.|Helical; (Potential). integral to membrane|plasma membrane 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0217) CGGTCATTCTCTTTGTCCTTG 0.483 12 47 --- --- --- --- PASS OR1G1 8390 broad.mit.edu 37 17 3030217 3030217 + Missense_Mutation SNP C G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr17:3030217C>G uc002fvc.1 - 1 629 c.629G>C c.(628-630)TGT>TCT p.C210S NM_003555 NP_003546 P47890 OR1G1_HUMAN olfactory receptor, family 1, subfamily G, 210 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GCAAAGCACACAAATGAGTCC 0.507 6 33 --- --- --- --- PASS DLG4 1742 broad.mit.edu 37 17 7100162 7100162 + Missense_Mutation SNP C G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr17:7100162C>G uc002get.3 - 11 2327 c.1126G>C c.(1126-1128)GGT>CGT p.G376R DLG4_uc010vtm.1_RNA|DLG4_uc010vtn.1_Missense_Mutation_p.G273R|DLG4_uc010cly.2_Missense_Mutation_p.G330R|DLG4_uc010vto.1_Missense_Mutation_p.G373R NM_001365 NP_001356 P78352 DLG4_HUMAN post-synaptic density protein 95 isoform 1 333 PDZ 3. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding ovary(1)|breast(1) 2 ATGCCTTCACCGTCCTCGCCA 0.642 6 7 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578403 7578403 + Missense_Mutation SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr17:7578403C>T uc002gim.2 - 5 721 c.527G>A c.(526-528)TGC>TAC p.C176Y TP53_uc002gig.1_Missense_Mutation_p.C176Y|TP53_uc002gih.2_Missense_Mutation_p.C176Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C44Y|TP53_uc010cng.1_Missense_Mutation_p.C44Y|TP53_uc002gii.1_Missense_Mutation_p.C44Y|TP53_uc010cnh.1_Missense_Mutation_p.C176Y|TP53_uc010cni.1_Missense_Mutation_p.C176Y|TP53_uc002gij.2_Missense_Mutation_p.C176Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C83Y|TP53_uc002gio.2_Missense_Mutation_p.C44Y|TP53_uc010vug.1_Missense_Mutation_p.C137Y NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 176 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Zinc. CP -> FS (in a sporadic cancer; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C176F(102)|p.C176Y(56)|p.C176S(19)|p.C176W(11)|p.C176R(8)|p.C176fs*71(7)|p.0?(7)|p.C176*(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176G(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.C44Y(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.C83Y(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C176fs*6(1)|p.R174fs*3(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATGGTGGGGGCAGCGCCTCAC 0.652 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 16 17 --- --- --- --- PASS CHD3 1107 broad.mit.edu 37 17 7802420 7802420 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr17:7802420G>T uc002gje.2 + 14 2393 c.2243G>T c.(2242-2244)CGC>CTC p.R748L CHD3_uc002gjd.2_Missense_Mutation_p.R807L|CHD3_uc002gjf.2_Missense_Mutation_p.R748L NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 748 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) AACTGGCTACGCTTCTCCTGG 0.522 44 41 --- --- --- --- PASS MYH8 4626 broad.mit.edu 37 17 10323421 10323421 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr17:10323421C>A uc002gmm.2 - 3 219 c.124G>T c.(124-126)GTG>TTG p.V42L uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 42 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 GGCTCCGCCACAAAGACAGAT 0.463 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 9 203 --- --- --- --- PASS MAP2K3 5606 broad.mit.edu 37 17 21204287 21204287 + Nonsense_Mutation SNP C G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr17:21204287C>G uc002gys.2 + 5 646 c.381C>G c.(379-381)TAC>TAG p.Y127* MAP2K3_uc002gyt.2_Nonsense_Mutation_p.Y98*|MAP2K3_uc002gyu.2_Nonsense_Mutation_p.Y98* NM_145109 NP_659731 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 127 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) TCACCTTCTACGGGGCACTAT 0.587 33 47 --- --- --- --- PASS NOS2 4843 broad.mit.edu 37 17 26114756 26114756 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr17:26114756G>T uc002gzu.2 - 5 679 c.415C>A c.(415-417)CTT>ATT p.L139I NOS2_uc010crh.1_Missense_Mutation_p.L139I|NOS2_uc010wab.1_Missense_Mutation_p.L139I NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 139 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) TGAGGTAGAAGCTCATCTGGA 0.517 15 70 --- --- --- --- PASS MIR632 693217 broad.mit.edu 37 17 30677214 30677214 + RNA SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr17:30677214G>T hsa-mir-632|MI0003647 + c.87G>T ZNF207_uc002hhj.3_5'UTR|ZNF207_uc002hhh.3_5'UTR|ZNF207_uc002hhi.3_5'UTR|ZNF207_uc010csz.2_5'UTR|ZNF207_uc002hhk.1_5'UTR 0 GGACGTGGTGGTAGCCGTTGG 0.577 55 75 --- --- --- --- PASS ACACA 31 broad.mit.edu 37 17 35487034 35487034 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr17:35487034G>T uc002hnm.2 - 46 5870 c.5679C>A c.(5677-5679)TTC>TTA p.F1893L ACACA_uc002hnk.2_Missense_Mutation_p.F1815L|ACACA_uc002hnl.2_Missense_Mutation_p.F1835L|ACACA_uc002hnn.2_Missense_Mutation_p.F1893L|ACACA_uc002hno.2_Missense_Mutation_p.F1930L|ACACA_uc010cuy.2_Missense_Mutation_p.F538L|ACACA_uc010wdc.1_Missense_Mutation_p.F19L NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 1893 Carboxyltransferase. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GCAGGACAGTGAAAACCCCTT 0.547 24 87 --- --- --- --- PASS SYNRG 11276 broad.mit.edu 37 17 35913322 35913322 + Nonsense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr17:35913322G>A uc002hoa.2 - 14 2586 c.2503C>T c.(2503-2505)CAG>TAG p.Q835* SYNRG_uc010wde.1_Nonsense_Mutation_p.Q757*|SYNRG_uc010wdf.1_Nonsense_Mutation_p.Q757*|SYNRG_uc002hoc.2_Nonsense_Mutation_p.Q756*|SYNRG_uc002hoe.2_Nonsense_Mutation_p.Q757*|SYNRG_uc002hod.2_Nonsense_Mutation_p.Q757*|SYNRG_uc010wdg.1_Nonsense_Mutation_p.Q674*|SYNRG_uc002hob.2_Nonsense_Mutation_p.Q835*|SYNRG_uc002hof.2_Nonsense_Mutation_p.Q547*|SYNRG_uc010cvd.1_Nonsense_Mutation_p.Q635* NM_007247 NP_009178 Q9UMZ2 SYNRG_HUMAN synergin, gamma isoform 1 835 endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding ovary(2) 2 ATGTCAAACTGAACAGAGAGT 0.473 16 74 --- --- --- --- PASS HOXB3 3213 broad.mit.edu 37 17 46629778 46629778 + Nonsense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr17:46629778G>T uc002inn.2 - 1 459 c.59C>A c.(58-60)TCG>TAG p.S20* HOXB3_uc010wlm.1_Intron|HOXB3_uc010dbf.2_Nonsense_Mutation_p.S20*|HOXB3_uc010dbg.2_Nonsense_Mutation_p.S20*|HOXB3_uc002ino.2_Nonsense_Mutation_p.S20*|HOXB3_uc010wlk.1_Intron|HOXB3_uc010wll.1_Intron NM_002146 NP_002137 P14651 HXB3_HUMAN homeobox B3 20 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GCCAGGGTACGAGGAATAGCC 0.637 10 20 --- --- --- --- PASS HOXB13 10481 broad.mit.edu 37 17 46805521 46805521 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr17:46805521G>T uc002ioa.2 - 1 591 c.435C>A c.(433-435)GAC>GAA p.D145E NM_006361 NP_006352 Q92826 HXB13_HUMAN homeobox B13 145 angiogenesis|epidermis development|response to wounding sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CCACAGACACGTCCAGGTAAC 0.607 35 75 --- --- --- --- PASS KIF2B 84643 broad.mit.edu 37 17 51902221 51902221 + Silent SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr17:51902221C>A uc002iua.2 + 1 1983 c.1827C>A c.(1825-1827)ACC>ACA p.T609T uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 609 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 GGAAGGATACCACAATTTCAG 0.423 7 51 --- --- --- --- PASS KIF2B 84643 broad.mit.edu 37 17 51902243 51902243 + Missense_Mutation SNP A G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr17:51902243A>G uc002iua.2 + 1 2005 c.1849A>G c.(1849-1851)AGC>GGC p.S617G uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 617 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 GAAGGGATCTAGCCAATGGCT 0.433 21 32 --- --- --- --- PASS CBX2 84733 broad.mit.edu 37 17 77757695 77757695 + Silent SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr17:77757695G>T uc002jxc.2 + 5 495 c.453G>T c.(451-453)GTG>GTT p.V151V NM_005189 NP_005180 Q14781 CBX2_HUMAN chromobox homolog 2 isoform 1 151 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding 0 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) AGATCCTGGTGGCCAAACCCG 0.602 10 20 --- --- --- --- PASS LAMA1 284217 broad.mit.edu 37 18 6978311 6978311 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr18:6978311G>A uc002knm.2 - 43 6168 c.6074C>T c.(6073-6075)ACG>ATG p.T2025M LAMA1_uc010wzj.1_Missense_Mutation_p.T1501M NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2025 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCCCTCAGCGTGCTCACCGC 0.537 15 34 --- --- --- --- PASS CEP192 55125 broad.mit.edu 37 18 13059268 13059268 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr18:13059268G>A uc010xac.1 + 21 4525 c.4445G>A c.(4444-4446)AGC>AAC p.S1482N CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.S1007N|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Missense_Mutation_p.S1223N NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 1482 ovary(4)|pancreas(1) 5 GCTTTGGCCAGCACCGTCACT 0.458 17 57 --- --- --- --- PASS GALNT1 2589 broad.mit.edu 37 18 33271056 33271056 + Silent SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr18:33271056G>A uc010dmu.2 + 8 1112 c.1059G>A c.(1057-1059)ACG>ACA p.T353T GALNT1_uc002kyz.3_Silent_p.T293T|GALNT1_uc002kzb.2_Silent_p.T353T NM_020474 NP_065207 Q10472 GALT1_HUMAN polypeptide N-acetylgalactosaminyltransferase 1 353 Lumenal (Potential). protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 CACCTTACACGTTTCCAGGAG 0.403 46 57 --- --- --- --- PASS DCC 1630 broad.mit.edu 37 18 50976950 50976950 + Missense_Mutation SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr18:50976950G>C uc002lfe.1 + 23 3897 c.3310G>C c.(3310-3312)GTC>CTC p.V1104L DCC_uc010dpf.1_Missense_Mutation_p.V739L NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 1104 Helical; (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GATCATTGTGGTCACCGTTGG 0.527 16 17 --- --- --- --- PASS VPS4B 9525 broad.mit.edu 37 18 61071041 61071041 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr18:61071041C>A uc002lix.2 - 5 643 c.383G>T c.(382-384)CGA>CTA p.R128L VPS4B_uc010dpx.2_Missense_Mutation_p.R128L|VPS4B_uc010dpy.2_Missense_Mutation_p.R10L|VPS4B_uc010dpz.1_Missense_Mutation_p.R10L NM_004869 NP_004860 O75351 VPS4B_HUMAN vacuolar protein sorting factor 4B 128 cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane ATP binding|ATPase activity, coupled|protein C-terminus binding ovary(1) 1 CACATTTGGTCGTTCTATAAC 0.348 7 21 --- --- --- --- PASS RTTN 25914 broad.mit.edu 37 18 67813010 67813010 + Silent SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr18:67813010C>T uc002lkp.2 - 18 2387 c.2319G>A c.(2317-2319)TCG>TCA p.S773S RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 773 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) TTAATGCTAGCGAACGGACCC 0.383 16 41 --- --- --- --- PASS FBXO15 201456 broad.mit.edu 37 18 71740710 71740710 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr18:71740710C>A uc002lle.2 - 10 1627 c.1291G>T c.(1291-1293)GGG>TGG p.G431W FBXO15_uc002lld.2_RNA|FBXO15_uc002llf.2_Missense_Mutation_p.G507W NM_152676 NP_689889 Q8NCQ5 FBX15_HUMAN F-box protein 15 isoform 1 431 ovary(2)|pancreas(1) 3 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) TATTCAGTCCCAAACCAATGG 0.363 37 59 --- --- --- --- PASS NFATC1 4772 broad.mit.edu 37 18 77211765 77211765 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr18:77211765G>T uc010xfg.1 + 6 2305 c.1852G>T c.(1852-1854)GGC>TGC p.G618C NFATC1_uc002lnc.1_Missense_Mutation_p.G618C|NFATC1_uc010xff.1_Silent_p.L589L|NFATC1_uc002lnd.2_Missense_Mutation_p.G618C|NFATC1_uc002lne.2_Missense_Mutation_p.G146C|NFATC1_uc010xfh.1_Missense_Mutation_p.G618C|NFATC1_uc010xfi.1_Missense_Mutation_p.G605C|NFATC1_uc010xfj.1_Missense_Mutation_p.G146C|NFATC1_uc002lnf.2_Missense_Mutation_p.G605C|NFATC1_uc002lng.2_Missense_Mutation_p.G605C|NFATC1_uc010xfk.1_Missense_Mutation_p.G605C NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 618 intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) GGTCCTGTCTGGCCACAACTT 0.612 14 30 --- --- --- --- PASS GRIN3B 116444 broad.mit.edu 37 19 1008638 1008638 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:1008638C>A uc002lqo.1 + 7 2488 c.2488C>A c.(2488-2490)CAC>AAC p.H830N uc002lqp.1_RNA NM_138690 NP_619635 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, 830 Extracellular (Potential). ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity 0 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) GAGCATCTACCACTTCGCGGG 0.667 17 15 --- --- --- --- PASS PCSK4 54760 broad.mit.edu 37 19 1483315 1483315 + Silent SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:1483315G>A uc002ltb.1 - 12 1601 c.1539C>T c.(1537-1539)CCC>CCT p.P513P PCSK4_uc002lsz.2_5'UTR|PCSK4_uc002lta.2_Silent_p.P325P NM_017573 NP_060043 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 513 proteolysis integral to membrane serine-type endopeptidase activity 0 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGTGCCCATGGGGCTGGTGA 0.687 9 8 --- --- --- --- PASS ZNF554 115196 broad.mit.edu 37 19 2834379 2834379 + Silent SNP C T T rs151263242 by1000genomes TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:2834379C>T uc002lwm.2 + 5 1344 c.1146C>T c.(1144-1146)TGC>TGT p.C382C ZNF554_uc002lwl.2_Silent_p.C331C NM_001102651 NP_001096121 Q86TJ5 ZN554_HUMAN zinc finger protein 554 382 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTACGGGTGCGGTGAGTGCG 0.542 12 27 --- --- --- --- PASS TIMM44 10469 broad.mit.edu 37 19 7997724 7997724 + Splice_Site SNP C G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:7997724C>G uc002miz.2 - 8 864 c.862_splice c.e8+1 p.G288_splice TIMM44_uc002mja.2_Splice_Site_p.G28_splice|TIMM44_uc010dvx.1_Splice_Site NM_006351 NP_006342 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity ovary(1) 1 GACTCACTCACCCAGCAAGTC 0.637 11 43 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9000454 9000454 + Silent SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:9000454G>T uc002mkp.2 - 54 40734 c.40530C>A c.(40528-40530)GTC>GTA p.V13510V MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.V327V|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13512 SEA 10.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GACCCTGAAGGACTCTCTCCG 0.488 15 23 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9006411 9006411 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:9006411G>A uc002mkp.2 - 45 39811 c.39607C>T c.(39607-39609)CTC>TTC p.L13203F MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.L20F|MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13205 SEA 8.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AAGGGCTTGAGCTGTTGGGGA 0.577 8 19 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9065064 9065064 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:9065064G>T uc002mkp.2 - 3 22586 c.22382C>A c.(22381-22383)ACC>AAC p.T7461N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7463 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GACTTCAGAGGTGGCCAGTAT 0.483 28 37 --- --- --- --- PASS OR7D4 125958 broad.mit.edu 37 19 9325318 9325318 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:9325318G>T uc002mla.1 - 1 196 c.196C>A c.(196-198)CTG>ATG p.L66M NM_001005191 NP_001005191 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, 66 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 ACAAAGGACAGGTTGGAGAGG 0.552 16 38 --- --- --- --- PASS CALR 811 broad.mit.edu 37 19 13049502 13049502 + Silent SNP A G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:13049502A>G uc002mvu.2 + 1 89 c.9A>G c.(7-9)CTA>CTG p.L3L NM_004343 NP_004334 P27797 CALR_HUMAN calreticulin precursor 3 cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding ovary(1) 1 Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) CCATGCTGCTATCCGTGCCGC 0.711 OREG0025278 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 6 --- --- --- --- PASS IL27RA 9466 broad.mit.edu 37 19 14159970 14159970 + Missense_Mutation SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:14159970C>T uc002mxx.2 + 10 1669 c.1246C>T c.(1246-1248)CCC>TCC p.P416S NM_004843 NP_004834 Q6UWB1 I27RA_HUMAN class I cytokine receptor precursor 416 Extracellular (Potential).|Fibronectin type-III 3. cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity 0 CTCCCCAGCACCCCTAGTGGG 0.642 OREG0025303 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 23 --- --- --- --- PASS OR10H5 284433 broad.mit.edu 37 19 15905094 15905094 + Missense_Mutation SNP C G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:15905094C>G uc010xos.1 + 1 236 c.236C>G c.(235-237)CCG>CGG p.P79R NM_001004466 NP_001004466 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, 79 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GCCATCATCCCGCGCATGCTG 0.617 34 27 --- --- --- --- PASS LRRC25 126364 broad.mit.edu 37 19 18507777 18507777 + Translation_Start_Site SNP A T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:18507777A>T uc002niw.2 - 1 639 c.-3T>A c.(-5--1)GCTTG>GCATG LRRC25_uc002nix.2_Translation_Start_Site NM_145256 NP_660299 Q8N386 LRC25_HUMAN leucine rich repeat containing 25 precursor integral to membrane 0 CCCCCATTCAAGCAACCTACG 0.612 10 12 --- --- --- --- PASS ZNF676 163223 broad.mit.edu 37 19 22364156 22364156 + Silent SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:22364156G>T uc002nqs.1 - 3 681 c.363C>A c.(361-363)GTC>GTA p.V121V NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 121 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) ATTTATGAAAGACGTTTGCAT 0.333 41 49 --- --- --- --- PASS C19orf2 8725 broad.mit.edu 37 19 30500150 30500150 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:30500150G>T uc002nsr.2 + 8 955 c.925G>T c.(925-927)GAC>TAC p.D309Y C19orf2_uc002nsq.2_Missense_Mutation_p.D291Y|C19orf2_uc002nss.2_Missense_Mutation_p.D269Y|C19orf2_uc002nst.2_Missense_Mutation_p.D233Y NM_003796 NP_003787 O94763 RMP_HUMAN RPB5-mediating protein isoform a 309 Poly-Asp. protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding ovary(1)|kidney(1) 2 Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) Hepatocellular(1079;0.137)|Renal(1328;0.228) STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115) STAD - Stomach adenocarcinoma(1328;0.18) tgatgacgacgacgacgacaa 0.254 15 20 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 30935706 30935706 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:30935706G>T uc002nsu.1 + 2 1375 c.1237G>T c.(1237-1239)GTG>TTG p.V413L ZNF536_uc010edd.1_Missense_Mutation_p.V413L NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CGAGGTGCCTGTGCCCATGGG 0.627 20 30 --- --- --- --- PASS FXYD1 5348 broad.mit.edu 37 19 35632052 35632052 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:35632052G>T uc002nyc.2 + 4 182 c.111G>T c.(109-111)CAG>CAT p.Q37H LGI4_uc002nxy.1_Intron|FXYD1_uc002nyb.1_RNA|FXYD1_uc002nyd.2_Missense_Mutation_p.Q37H|FXYD7_uc010xsp.1_5'Flank|FXYD7_uc002nye.1_5'Flank|FXYD7_uc002nyf.1_5'Flank NM_021902 NP_068702 O00168 PLM_HUMAN phospholemman precursor 37 Helical; (Potential). muscle contraction chloride channel complex|integral to plasma membrane chloride channel activity 0 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849) AGTCCCTGCAGATCGGAGGCC 0.458 9 30 --- --- --- --- PASS ZNF540 163255 broad.mit.edu 37 19 38103481 38103481 + Missense_Mutation SNP A T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:38103481A>T uc002ogq.2 + 5 1632 c.1300A>T c.(1300-1302)ACT>TCT p.T434S ZNF540_uc002ogu.2_Missense_Mutation_p.T434S|ZNF540_uc010efq.2_Missense_Mutation_p.T402S NM_152606 NP_689819 Q8NDQ6 ZN540_HUMAN zinc finger protein 540 434 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TAGAATTCATACTGGAGAGAA 0.398 20 58 --- --- --- --- PASS ZNF607 84775 broad.mit.edu 37 19 38189147 38189147 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:38189147C>A uc002ohc.1 - 5 2481 c.1885G>T c.(1885-1887)GCC>TCC p.A629S ZNF607_uc002ohb.1_Missense_Mutation_p.A628S NM_032689 NP_116078 Q96SK3 ZN607_HUMAN zinc finger protein 607 629 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) AGATATGAGGCACAGTGAAAT 0.368 29 65 --- --- --- --- PASS FCGBP 8857 broad.mit.edu 37 19 40367841 40367841 + Silent SNP T G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:40367841T>G uc002omp.3 - 29 13127 c.13119A>C c.(13117-13119)GCA>GCC p.A4373A NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4373 TIL 10. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCGTAAGGGGTGCAGGGGACG 0.627 6 12 --- --- --- --- PASS ZNF780A 284323 broad.mit.edu 37 19 40581570 40581570 + Missense_Mutation SNP C T T rs143775764 by1000genomes TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:40581570C>T uc002omy.2 - 6 1004 c.779G>A c.(778-780)CGT>CAT p.R260H ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.R260H|ZNF780A_uc010xvh.1_Missense_Mutation_p.R261H NM_001010880 NP_001010880 O75290 Z780A_HUMAN zinc finger protein 780A isoform b 260 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GTTTGAGCTACGATTAAAGGA 0.403 47 123 --- --- --- --- PASS ATP1A3 478 broad.mit.edu 37 19 42485656 42485656 + Nonsense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:42485656G>A uc002osg.2 - 11 1589 c.1435C>T c.(1435-1437)CAG>TAG p.Q479* ATP1A3_uc010xwf.1_Nonsense_Mutation_p.Q490*|ATP1A3_uc010xwg.1_Nonsense_Mutation_p.Q449*|ATP1A3_uc010xwh.1_Nonsense_Mutation_p.Q492*|ATP1A3_uc002osh.2_Nonsense_Mutation_p.Q479* NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 479 Cytoplasmic (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 CAGAGTACCTGGTATTTGTTG 0.458 15 40 --- --- --- --- PASS ZNF233 353355 broad.mit.edu 37 19 44777881 44777881 + Nonsense_Mutation SNP T A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:44777881T>A uc002oyz.1 + 5 1195 c.1068T>A c.(1066-1068)TGT>TGA p.C356* ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Nonsense_Mutation_p.C171* NM_181756 NP_861421 A6NK53 ZN233_HUMAN zinc finger protein 233 356 C2H2-type 3; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2) 2 Prostate(69;0.0435)|all_neural(266;0.226) AGAACTCCTGTCTTCCCTCTC 0.502 7 46 --- --- --- --- PASS APOC1 341 broad.mit.edu 37 19 45422442 45422442 + Silent SNP A T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:45422442A>T uc002pac.1 + 5 459 c.207A>T c.(205-207)TCA>TCT p.S69S APOC1_uc002pad.1_Silent_p.S69S|APOC1_uc002pae.1_Silent_p.S69S|APOC1_uc002paf.1_RNA NM_001645 NP_001636 P02654 APOC1_HUMAN apolipoprotein C-I precursor 69 cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity 0 Lung NSC(12;0.0018)|all_lung(12;0.00481) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174) AGTGGTTTTCAGAGACATTTC 0.532 70 121 --- --- --- --- PASS SFRS16 11129 broad.mit.edu 37 19 45567390 45567390 + Silent SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:45567390C>T uc002pak.2 + 12 1124 c.1026C>T c.(1024-1026)GCC>GCT p.A342A SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Silent_p.A280A|SFRS16_uc002pam.2_Silent_p.A342A|SFRS16_uc002pan.1_RNA NM_007056 NP_008987 Q8N2M8 CLASR_HUMAN splicing factor, arginine/serine-rich 16 342 mRNA processing|RNA splicing nucleus 0 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0102) CAGCCGCAGCCGCTGCTGCCG 0.721 3 15 --- --- --- --- PASS NUCB1 4924 broad.mit.edu 37 19 49422505 49422505 + Nonsense_Mutation SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:49422505C>T uc002plb.3 + 10 1036 c.964C>T c.(964-966)CAG>TAG p.Q322* NUCB1_uc002pla.2_Nonsense_Mutation_p.Q322*|NUCB1_uc002plc.2_Nonsense_Mutation_p.Q322*|NUCB1_uc002pld.2_5'UTR NM_006184 NP_006175 Q02818 NUCB1_HUMAN nucleobindin 1 precursor 322 EF-hand 2. ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton calcium ion binding|DNA binding 0 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) CGCATCCACTCAGAGGAAGGA 0.607 7 37 --- --- --- --- PASS ALDH16A1 126133 broad.mit.edu 37 19 49962966 49962966 + Nonsense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:49962966G>A uc002pnt.2 + 4 476 c.360G>A c.(358-360)TGG>TGA p.W120* ALDH16A1_uc010yar.1_Nonsense_Mutation_p.W120*|ALDH16A1_uc010yas.1_5'UTR|ALDH16A1_uc010yat.1_Intron NM_153329 NP_699160 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 120 oxidoreductase activity|protein binding skin(1) 1 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) GGCTGCTGTGGACCCTGGAAT 0.622 7 40 --- --- --- --- PASS MED25 81857 broad.mit.edu 37 19 50331706 50331706 + Missense_Mutation SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:50331706G>C uc002ppw.1 + 4 359 c.306G>C c.(304-306)AAG>AAC p.K102N MED25_uc010ybe.1_Intron|MED25_uc002ppx.1_5'Flank NM_030973 NP_112235 Q71SY5 MED25_HUMAN mediator complex subunit 25 102 Interaction with the Mediator complex. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ovary(1) 1 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122) GCCCCTGCAGGTTCATGGGCG 0.607 18 141 --- --- --- --- PASS SYT3 84258 broad.mit.edu 37 19 51140631 51140631 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:51140631G>T uc002pst.2 - 1 672 c.38C>A c.(37-39)GCA>GAA p.A13E SYT3_uc002psv.2_Missense_Mutation_p.A13E|SYT3_uc010ycd.1_Missense_Mutation_p.A13E NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN synaptotagmin III 13 Vesicular (Potential). cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|breast(1) 3 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) CAGGATGAGTGCCCGCCGGCA 0.617 15 45 --- --- --- --- PASS VN1R4 317703 broad.mit.edu 37 19 53770079 53770079 + Silent SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:53770079G>T uc010ydu.1 - 1 840 c.840C>A c.(838-840)CTC>CTA p.L280L NM_173857 NP_776256 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 280 Helical; Name=7; (Potential). response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(134;0.00294) CAAAGGGGCTGAGAGTTGGGA 0.418 HNSCC(26;0.072) 8 44 --- --- --- --- PASS LILRB1 10859 broad.mit.edu 37 19 55144088 55144088 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:55144088C>A uc002qgj.2 + 7 1175 c.835C>A c.(835-837)CAG>AAG p.Q279K LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.Q279K|LILRB1_uc002qgk.2_Missense_Mutation_p.Q279K|LILRB1_uc002qgm.2_Missense_Mutation_p.Q279K|LILRB1_uc010erq.2_Missense_Mutation_p.Q279K|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 279 Ig-like C2-type 3.|Extracellular (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) TGGGCTCTCCCAGGCCAACTT 0.622 HNSCC(37;0.09) 19 15 --- --- --- --- PASS SBK2 646643 broad.mit.edu 37 19 56042609 56042609 + Silent SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:56042609G>A uc010ygc.1 - 2 357 c.357C>T c.(355-357)ATC>ATT p.I119I NM_001101401 NP_001094871 P0C263 SBK2_HUMAN SH3-binding domain kinase family, member 2 119 Protein kinase. ATP binding|protein serine/threonine kinase activity 0 AGGCCGTCACGATGGCTGAGT 0.652 5 34 --- --- --- --- PASS ZNF773 374928 broad.mit.edu 37 19 58017855 58017855 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:58017855G>A uc002qox.2 + 4 532 c.392G>A c.(391-393)AGG>AAG p.R131K ZNF547_uc002qpm.3_Intron|ZNF773_uc002qoy.2_Missense_Mutation_p.R130K|ZNF773_uc002qoz.2_Intron NM_198542 NP_940944 Q6PK81 ZN773_HUMAN zinc finger protein 773 131 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254) CAAGAGGGCAGGGTCCCAGTT 0.507 17 40 --- --- --- --- PASS ZNF256 10172 broad.mit.edu 37 19 58453295 58453295 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:58453295G>T uc002qqu.2 - 3 1116 c.881C>A c.(880-882)CCT>CAT p.P294H ZNF256_uc010euj.2_Missense_Mutation_p.P141H NM_005773 NP_005764 Q9Y2P7 ZN256_HUMAN zinc finger protein 256 294 multicellular organismal development|negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155) ACATTGATGAGGTCTTACTCC 0.398 38 85 --- --- --- --- PASS ZSCAN1 284312 broad.mit.edu 37 19 58549348 58549348 + Silent SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:58549348G>T uc002qrc.1 + 3 391 c.144G>T c.(142-144)GTG>GTT p.V48V ZSCAN1_uc002qra.1_Silent_p.V48V|ZSCAN1_uc002qrb.1_Silent_p.V48V NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 48 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) AGTACCACGTGGCGAGCGGGC 0.706 4 17 --- --- --- --- PASS PDYN 5173 broad.mit.edu 37 20 1961244 1961244 + Missense_Mutation SNP C G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr20:1961244C>G uc010gaj.2 - 3 732 c.490G>C c.(490-492)GCT>CCT p.A164P uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.A164P|PDYN_uc010zpt.1_Missense_Mutation_p.A9P NM_024411 NP_077722 P01213 PDYN_HUMAN beta-neoendorphin-dynorphin preproprotein 164 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity upper_aerodigestive_tract(1)|ovary(1) 2 TCCTCCTCAGCGAGATAGAGT 0.597 19 58 --- --- --- --- PASS ADRA1D 146 broad.mit.edu 37 20 4202246 4202246 + Missense_Mutation SNP T A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr20:4202246T>A uc002wkr.2 - 2 1698 c.1643A>T c.(1642-1644)CAC>CTC p.H548L NM_000678 NP_000669 P25100 ADA1D_HUMAN alpha-1D-adrenergic receptor 548 Cytoplasmic (By similarity). KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation integral to plasma membrane alpha1-adrenergic receptor activity 0 Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162) GGCCACCTCGTGTGGGACGCC 0.682 7 26 --- --- --- --- PASS CHGB 1114 broad.mit.edu 37 20 5903358 5903358 + Nonsense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr20:5903358G>T uc002wmg.2 + 4 874 c.568G>T c.(568-570)GAG>TAG p.E190* CHGB_uc010zqz.1_5'UTR NM_001819 NP_001810 P05060 SCG1_HUMAN chromogranin B precursor 190 extracellular region hormone activity breast(3)|skin(2)|ovary(1) 6 ACACCTTGAAGAGCCAGGAGA 0.483 7 29 --- --- --- --- PASS SPTLC3 55304 broad.mit.edu 37 20 12989918 12989918 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr20:12989918G>T uc002wod.1 + 1 292 c.3G>T c.(1-3)ATG>ATT p.M1I SPTLC3_uc002wob.1_RNA|SPTLC3_uc002woc.2_Missense_Mutation_p.M1I NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base 1 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups 0 Pyridoxal Phosphate(DB00114) TCACACCCATGGCTAACCCTG 0.498 11 37 --- --- --- --- PASS PCSK2 5126 broad.mit.edu 37 20 17417378 17417378 + Silent SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr20:17417378C>T uc002wpm.2 + 8 1055 c.735C>T c.(733-735)TTC>TTT p.F245F PCSK2_uc002wpl.2_Silent_p.F226F|PCSK2_uc010zrm.1_Silent_p.F210F NM_002594 NP_002585 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 245 Catalytic. enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1) 7 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACCAGCCATTCATGACAGACA 0.577 11 27 --- --- --- --- PASS SLC24A3 57419 broad.mit.edu 37 20 19677556 19677556 + Splice_Site SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr20:19677556G>T uc002wrl.2 + 14 1803 c.1606_splice c.e14+1 p.G536_splice NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN solute carrier family 24 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(1) 1 GCCAGACAAGGTGGGACTTCC 0.358 6 26 --- --- --- --- PASS PYGB 5834 broad.mit.edu 37 20 25255237 25255237 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr20:25255237G>T uc002wup.2 + 5 647 c.538G>T c.(538-540)GCC>TCC p.A180S NM_002862 NP_002853 P11216 PYGB_HUMAN brain glycogen phosphorylase 180 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 Pyridoxal Phosphate(DB00114) GGTAGAGGAGGCCGATGACTG 0.652 8 31 --- --- --- --- PASS C20orf186 149954 broad.mit.edu 37 20 31673958 31673958 + Missense_Mutation SNP A C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr20:31673958A>C uc010zue.1 + 5 929 c.914A>C c.(913-915)AAG>ACG p.K305T NM_182519 NP_872325 P59827 LPLC4_HUMAN antimicrobial peptide RY2G5 precursor 305 cytoplasm|extracellular region lipid binding 0 ATCAAAGTCAAGCTGCTGCGA 0.582 23 60 --- --- --- --- PASS GDF5 8200 broad.mit.edu 37 20 34022581 34022581 + Missense_Mutation SNP T A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr20:34022581T>A uc002xck.1 - 2 951 c.632A>T c.(631-633)GAT>GTT p.D211V GDF5_uc010gfc.1_Missense_Mutation_p.D211V|uc002xcj.2_Missense_Mutation_p.I331N|GDF5_uc010zvc.1_Missense_Mutation_p.D211V NM_000557 NP_000548 P43026 GDF5_HUMAN growth differentiation factor 5 preproprotein 211 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity 0 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) ACCTCGGTCATCTAGAGAGAA 0.607 39 84 --- --- --- --- PASS PTPRT 11122 broad.mit.edu 37 20 40747043 40747043 + Silent SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr20:40747043C>T uc002xkg.2 - 21 3166 c.2982G>A c.(2980-2982)AGG>AGA p.R994R PTPRT_uc010ggj.2_Silent_p.R1013R|PTPRT_uc010ggi.2_Silent_p.R197R NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 994 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) AGAGGCTTACCCTGCCCACTT 0.443 22 60 --- --- --- --- PASS NEURL2 140825 broad.mit.edu 37 20 44519371 44519371 + Missense_Mutation SNP G A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr20:44519371G>A uc002xqg.1 - 1 531 c.260C>T c.(259-261)GCG>GTG p.A87V CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank NM_080749 NP_542787 Q9BR09 NEUL2_HUMAN neuralized-like protein 2 87 NHR. intracellular signal transduction 0 Myeloproliferative disorder(115;0.0122) GGGGTCCAGCGCGGTCAGACC 0.667 15 18 --- --- --- --- PASS SLC2A10 81031 broad.mit.edu 37 20 45353939 45353939 + Silent SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr20:45353939C>A uc002xsl.2 + 2 361 c.264C>A c.(262-264)GGC>GGA p.G88G NM_030777 NP_110404 O95528 GTR10_HUMAN solute carrier family 2 member 10 88 Helical; Name=3; (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) TGCTGGCAGGCAGCCTGACCC 0.637 7 57 --- --- --- --- PASS CYP24A1 1591 broad.mit.edu 37 20 52782348 52782348 + Missense_Mutation SNP T C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr20:52782348T>C uc002xwv.2 - 5 1063 c.665A>G c.(664-666)AAG>AGG p.K222R CYP24A1_uc002xwu.1_Missense_Mutation_p.K80R|CYP24A1_uc002xww.2_Missense_Mutation_p.K222R NM_000782 NP_000773 Q07973 CP24A_HUMAN cytochrome P450 family 24 subfamily A 222 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) CCCAAATCTCTTCTCATACAA 0.398 31 62 --- --- --- --- PASS BMP7 655 broad.mit.edu 37 20 55803413 55803413 + Silent SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr20:55803413G>T uc010gip.1 - 2 1012 c.483C>A c.(481-483)TCC>TCA p.S161S BMP7_uc010giq.1_Silent_p.S161S|BMP7_uc002xyc.2_Silent_p.S161S NM_001719 NP_001710 P18075 BMP7_HUMAN bone morphogenetic protein 7 precursor 161 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity skin(1) 1 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) CTGGGATCTTGGAAAGATCAA 0.522 68 112 --- --- --- --- PASS KCNQ2 3785 broad.mit.edu 37 20 62065176 62065176 + Silent SNP G C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr20:62065176G>C uc002yey.1 - 8 1281 c.1104C>G c.(1102-1104)ACC>ACG p.T368T KCNQ2_uc002yez.1_Silent_p.T368T|KCNQ2_uc002yfa.1_Silent_p.T368T|KCNQ2_uc002yfb.1_Silent_p.T368T|KCNQ2_uc011aax.1_Silent_p.T368T|KCNQ2_uc002yfc.1_Silent_p.T368T NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 368 Cytoplasmic (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) ACATGGGCACGGTGACCGTTC 0.532 38 57 --- --- --- --- PASS RTEL1 51750 broad.mit.edu 37 20 62326724 62326724 + Silent SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr20:62326724C>T uc002yfu.1 + 34 3886 c.3543C>T c.(3541-3543)ATC>ATT p.I1181I RTEL1_uc002yft.1_Silent_p.I1181I|RTEL1_uc011abd.1_Silent_p.I1205I|RTEL1_uc011abe.1_Silent_p.I958I|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_Silent_p.I426I|TNFRSF6B_uc002yfy.2_5'UTR|TNFRSF6B_uc002yfz.2_5'Flank NM_016434 NP_057518 Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 1181 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding 0 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) AGAGCAAGATCTCGTCCTTCC 0.652 10 189 --- --- --- --- PASS KRTAP19-6 337973 broad.mit.edu 37 21 31914084 31914084 + Silent SNP A G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr21:31914084A>G uc002yok.1 - 1 98 c.69T>C c.(67-69)TAT>TAC p.Y23Y NM_181612 NP_853643 Q3LI70 KR196_HUMAN keratin associated protein 19-6 23 intermediate filament 0 AGCCACAGCCATAGCCCAGAC 0.522 56 43 --- --- --- --- PASS TIAM1 7074 broad.mit.edu 37 21 32502633 32502633 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr21:32502633C>A uc002yow.1 - 26 4415 c.3943G>T c.(3943-3945)GTA>TTA p.V1315L TIAM1_uc011adk.1_Missense_Mutation_p.V1315L|TIAM1_uc011adl.1_Missense_Mutation_p.V1255L NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1315 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 TGAGATCCTACCTGCAGAGGA 0.527 41 29 --- --- --- --- PASS HUNK 30811 broad.mit.edu 37 21 33296969 33296969 + Missense_Mutation SNP A G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr21:33296969A>G uc002yph.2 + 2 811 c.451A>G c.(451-453)AAG>GAG p.K151E NM_014586 NP_055401 P57058 HUNK_HUMAN hormonally upregulated Neu-associated kinase 151 Protein kinase. multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity stomach(1)|skin(1) 2 CCTGATGCACAAGATCTATGA 0.562 34 38 --- --- --- --- PASS DYRK1A 1859 broad.mit.edu 37 21 38878446 38878446 + Missense_Mutation SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr21:38878446C>T uc002ywk.2 + 10 1666 c.1591C>T c.(1591-1593)CCG>TCG p.P531S DYRK1A_uc002ywi.2_Missense_Mutation_p.P531S|DYRK1A_uc002ywj.2_Missense_Mutation_p.P522S|DYRK1A_uc002ywl.2_Intron|DYRK1A_uc002ywm.2_Intron|DYRK1A_uc011aei.1_Missense_Mutation_p.P292S NM_001396 NP_001387 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 531 nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity ovary(2)|lung(1)|breast(1) 4 CCGGTCGGATCCGACGCACCA 0.537 10 24 --- --- --- --- PASS ISX 91464 broad.mit.edu 37 22 35463099 35463099 + Missense_Mutation SNP C A A rs138420595 TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr22:35463099C>A uc003anj.2 + 1 970 c.19C>A c.(19-21)CCT>ACT p.P7T ISX_uc011amg.1_5'UTR NM_001008494 NP_001008494 Q2M1V0 ISX_HUMAN intestine-specific homeobox 7 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2) 5 TGAGGTGGGCCCTGCTCTCTG 0.602 6 9 --- --- --- --- PASS TRMU 55687 broad.mit.edu 37 22 46751480 46751480 + Missense_Mutation SNP C T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr22:46751480C>T uc003bhp.2 + 9 1377 c.1013C>T c.(1012-1014)GCA>GTA p.A338V TRMU_uc003bhq.2_Missense_Mutation_p.A120V|TRMU_uc003bhs.2_Missense_Mutation_p.A338V|TRMU_uc003bhr.2_Missense_Mutation_p.A224V|TRMU_uc003bht.2_Missense_Mutation_p.A191V|TRMU_uc003bhu.2_Missense_Mutation_p.A120V|TRMU_uc003bhv.2_Missense_Mutation_p.A191V NM_018006 NP_060476 O75648 MTU1_HUMAN tRNA 5-methylaminomethyl-2-thiouridylate 338 mitochondrion ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding ovary(1) 1 Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248) CACCAGATGGCACTAGGTGAC 0.632 OREG0026654 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 27 --- --- --- --- PASS NHS 4810 broad.mit.edu 37 X 17746085 17746085 + Missense_Mutation SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chrX:17746085G>T uc004cxx.2 + 6 4134 c.3796G>T c.(3796-3798)GGT>TGT p.G1266C NHS_uc011mix.1_Missense_Mutation_p.G1287C|NHS_uc004cxy.2_Missense_Mutation_p.G1110C|NHS_uc004cxz.2_Missense_Mutation_p.G1089C|NHS_uc004cya.2_Missense_Mutation_p.G989C NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 1266 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) TGATTTGGATGGTAAAATAAT 0.473 15 22 --- --- --- --- PASS ZNF711 7552 broad.mit.edu 37 X 84502614 84502614 + Silent SNP G T T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chrX:84502614G>T uc004eeo.2 + 3 383 c.36G>T c.(34-36)ACG>ACT p.T12T ZNF711_uc004eep.2_Silent_p.T12T|ZNF711_uc004eeq.2_Silent_p.T12T NM_021998 NP_068838 Q9Y462 ZN711_HUMAN zinc finger protein 711 12 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding ovary(3)|skin(1) 4 GATTGCACACGCCAGACTCTA 0.328 22 26 --- --- --- --- PASS IRS4 8471 broad.mit.edu 37 X 107977058 107977058 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chrX:107977058C>A uc004eoc.2 - 1 2550 c.2517G>T c.(2515-2517)AGG>AGT p.R839S NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 839 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 TGTCTAGGCCCCTCCCCAGGA 0.502 71 69 --- --- --- --- PASS RGAG1 57529 broad.mit.edu 37 X 109694517 109694517 + Silent SNP C G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chrX:109694517C>G uc004eor.1 + 3 918 c.672C>G c.(670-672)CCC>CCG p.P224P RGAG1_uc011msr.1_Silent_p.P224P NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 224 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 TGCCAGCTCCCAGCTCTGAGG 0.478 19 23 --- --- --- --- PASS RGAG1 57529 broad.mit.edu 37 X 109694617 109694617 + Missense_Mutation SNP C A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chrX:109694617C>A uc004eor.1 + 3 1018 c.772C>A c.(772-774)CTG>ATG p.L258M RGAG1_uc011msr.1_Missense_Mutation_p.L258M NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 258 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GATATCTTCGCTGCTAATGTC 0.483 22 24 --- --- --- --- PASS FUBP1 8880 broad.mit.edu 37 1 78422308 78422324 + Frame_Shift_Del DEL GTGGCTGTGCTTGCTGT - - TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:78422308_78422324delGTGGCTGTGCTTGCTGT uc001dii.2 - 17 1727_1743 c.1638_1654delACAGCAAGCACAGCCAC c.(1636-1656)CAACAGCAAGCACAGCCACCAfs p.Q546fs FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Frame_Shift_Del_p.Q567fs NM_003902 NP_003893 Q96AE4 FUBP1_HUMAN far upstream element-binding protein 546_552 Pro-rich. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(2)|lung(1) 3 GCTGCTGGTGGTGGCTGTGCTTGCTGTTGATAATAGT 0.433 62 30 --- --- --- --- EDARADD 128178 broad.mit.edu 37 1 236645688 236645688 + Frame_Shift_Del DEL G - - TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr1:236645688delG uc001hxu.1 + 6 452 c.387delG c.(385-387)CTGfs p.L129fs EDARADD_uc001hxv.1_Frame_Shift_Del_p.L119fs NM_145861 NP_665860 Q8WWZ3 EDAD_HUMAN EDAR-associated death domain isoform A 129 Death. cell differentiation|signal transduction cytoplasm 0 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.0232)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) GGATAAAGCTGGATCCGTGTC 0.502 40 35 --- --- --- --- HAVCR1 26762 broad.mit.edu 37 5 156484938 156484939 + Frame_Shift_Ins INS - C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr5:156484938_156484939insC uc010jij.1 - 2 201_202 c.16_17insG c.(16-18)GTCfs p.V6fs HAVCR1_uc003lwi.2_Frame_Shift_Ins_p.V6fs|HAVCR1_uc011ddm.1_Frame_Shift_Ins_p.V6fs NM_001099414 NP_001092884 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 6 interspecies interaction between organisms integral to membrane receptor activity ovary(1)|skin(1) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCTTAAGATGACCACTTGAGGA 0.515 25 12 --- --- --- --- SEPHS1 22929 broad.mit.edu 37 10 13378352 13378352 + Splice_Site DEL T - - TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:13378352delT uc001imk.2 - 4 657 c.298_splice c.e4-1 p.G100_splice SEPHS1_uc001imh.2_Frame_Shift_Del_p.Q23fs|SEPHS1_uc010qbs.1_Splice_Site_p.G52_splice|SEPHS1_uc001imi.2_Splice_Site_p.G100_splice|SEPHS1_uc001imj.2_Splice_Site_p.G100_splice|SEPHS1_uc010qbt.1_Splice_Site_p.G33_splice|SEPHS1_uc009xje.2_Splice_Site_p.G100_splice NM_012247 NP_036379 P49903 SPS1_HUMAN selenophosphate synthetase 1 protein modification process ATP binding|GTP binding|selenide, water dikinase activity skin(1) 1 TATCCTGCCCTGGGAAGAGAG 0.507 19 12 --- --- --- --- SLC39A12 221074 broad.mit.edu 37 10 18276475 18276475 + Frame_Shift_Del DEL C - - TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr10:18276475delC uc001ipo.2 + 7 1437 c.1164delC c.(1162-1164)GTCfs p.V388fs SLC39A12_uc001ipn.2_Frame_Shift_Del_p.V388fs|SLC39A12_uc001ipp.2_Frame_Shift_Del_p.V388fs|SLC39A12_uc010qck.1_Frame_Shift_Del_p.V254fs NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 388 Helical; (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 CAGCGCTGGTCCTTTTCCATA 0.547 60 33 --- --- --- --- OR4A16 81327 broad.mit.edu 37 11 55110725 55110726 + Frame_Shift_Ins INS - A A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:55110725_55110726insA uc010rie.1 + 1 49_50 c.49_50insA c.(49-51)CAAfs p.Q17fs NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 17 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 GGGCCTCACTCAAGATCCTGAT 0.406 23 26 --- --- --- --- DAGLA 747 broad.mit.edu 37 11 61488164 61488165 + Frame_Shift_Ins INS - C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:61488164_61488165insC uc001nsa.2 + 3 220_221 c.109_110insC c.(109-111)TCCfs p.S37fs NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 37 Helical; (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) TGTGATCCTGTCCGTGGTGCTC 0.639 22 17 --- --- --- --- HTR3A 3359 broad.mit.edu 37 11 113860388 113860388 + Frame_Shift_Del DEL C - - TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr11:113860388delC uc010rxb.1 + 8 1687 c.1454delC c.(1453-1455)TCCfs p.S485fs HTR3A_uc010rxa.1_Frame_Shift_Del_p.S453fs|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Frame_Shift_Del_p.S432fs NM_213621 NP_998786 P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A 447 HA-stretch.|Cytoplasmic (Potential). digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) CGCGTGGGCTCCGTGCTGGAC 0.602 28 29 --- --- --- --- TXNRD1 7296 broad.mit.edu 37 12 104709579 104709580 + Frame_Shift_Ins INS - G G TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr12:104709579_104709580insG uc010swk.1 + 7 657_658 c.635_636insG c.(634-636)GTGfs p.V212fs TXNRD1_uc010swl.1_Frame_Shift_Ins_p.V62fs|TXNRD1_uc010swm.1_Frame_Shift_Ins_p.V114fs|TXNRD1_uc010swn.1_Frame_Shift_Ins_p.V62fs|TXNRD1_uc010swo.1_Frame_Shift_Ins_p.V62fs|TXNRD1_uc010swp.1_Frame_Shift_Ins_p.V24fs|TXNRD1_uc010swq.1_Frame_Shift_Ins_p.V112fs|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Frame_Shift_Ins_p.V128fs NM_001093771 NP_001087240 Q16881 TRXR1_HUMAN thioredoxin reductase 1 isoform 3 212 cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity 0 TGTGTGAATGTGGGTTGCATAC 0.406 12 16 --- --- --- --- STK11 6794 broad.mit.edu 37 19 1207064 1207065 + Frame_Shift_Ins INS - C C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:1207064_1207065insC uc002lrl.1 + 1 1267_1268 c.152_153insC c.(151-153)ATGfs p.M51fs NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 51 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.?(3)|p.D53fs*11(1)|p.L50_D53del(1)|p.M51fs*14(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) AAGTACCTGATGGGGGACCTGC 0.604 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 18 13 --- --- --- --- LPAR2 9170 broad.mit.edu 37 19 19737866 19737867 + Frame_Shift_Del DEL CG - - rs148440416 TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:19737866_19737867delCG uc002nnb.3 - 2 366_367 c.227_228delCG c.(226-228)GCGfs p.A76fs LPAR2_uc002nna.3_Frame_Shift_Del_p.A76fs|LPAR2_uc002nnc.3_Frame_Shift_Del_p.A76fs NM_004720 NP_004711 Q9HBW0 LPAR2_HUMAN lysophosphatidic acid receptor 2 76 Helical; Name=2; (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration cell surface|integral to plasma membrane LIM domain binding|lipid binding ovary(1)|breast(1) 2 AGAGGTCAGCCGCGGCCAGATT 0.634 15 8 --- --- --- --- LILRA1 11024 broad.mit.edu 37 19 55110733 55110733 + Frame_Shift_Del DEL A - - rs138750900 TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr19:55110733delA uc002qgh.1 + 8 1476 c.1294delA c.(1294-1296)AAGfs p.K432fs LILRA1_uc010yfh.1_Frame_Shift_Del_p.K432fs NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 432 Extracellular (Potential). cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) ACCACAAAACAAGTCCGATTC 0.498 6 8 --- --- --- --- PICK1 9463 broad.mit.edu 37 22 38470389 38470390 + Frame_Shift_Del DEL GC - - TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chr22:38470389_38470390delGC uc003auq.2 + 12 1300_1301 c.910_911delGC c.(910-912)GCGfs p.A304fs PICK1_uc003aur.2_Frame_Shift_Del_p.A304fs|PICK1_uc003aus.2_Frame_Shift_Del_p.A304fs|PICK1_uc003aut.2_Frame_Shift_Del_p.A304fs NM_012407 NP_036539 Q9NRD5 PICK1_HUMAN protein interacting with C kinase 1 304 AH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding 0 Melanoma(58;0.045) CCGCCAGGAGGCGCGCGCCCGC 0.673 16 10 --- --- --- --- ARHGAP6 395 broad.mit.edu 37 X 11200215 11200215 + Frame_Shift_Del DEL G - - TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7cb79e4b-c1f1-434d-b13b-6c2eb7760ee8 0a0a8afb-1b2e-4f01-97a6-725caa618c5d g.chrX:11200215delG uc004cup.1 - 6 2170 c.1297delC c.(1297-1299)CGAfs p.R433fs ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Frame_Shift_Del_p.R433fs|ARHGAP6_uc004cum.1_Frame_Shift_Del_p.R230fs|ARHGAP6_uc004cun.1_Frame_Shift_Del_p.R253fs|ARHGAP6_uc010neb.1_Frame_Shift_Del_p.R255fs|ARHGAP6_uc011mif.1_Frame_Shift_Del_p.R230fs NM_013427 NP_038286 O43182 RHG06_HUMAN Rho GTPase activating protein 6 isoform 1 433 Rho-GAP. actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity urinary_tract(1)|lung(1) 2 CTTCCAACTCGGAATATCCCC 0.373 64 48 --- --- --- ---