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 KIAA0562 9731 broad.mit.edu 37 1 3765275 3765275 + Missense_Mutation SNP G T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr1:3765275G>T uc001aky.2 - 3 543 c.184C>A c.(184-186)CTT>ATT p.L62I KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Missense_Mutation_p.L62I NM_014704 NP_055519 O60308 CE104_HUMAN glycine-, glutamate-, 62 centriole binding 0 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212) Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137) TGGTGAGCAAGTAACTGCAGT 0.368 12 134 --- --- --- --- PASS CAMTA1 23261 broad.mit.edu 37 1 7724860 7724860 + Silent SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr1:7724860C>T uc001aoi.2 + 9 2460 c.2253C>T c.(2251-2253)AGC>AGT p.S751S NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 751 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CCCAGCCCAGCCTCGGCAACG 0.637 5 220 --- --- --- --- PASS UBR4 23352 broad.mit.edu 37 1 19467977 19467977 + Silent SNP A G G rs12068417 TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr1:19467977A>G uc001bbi.2 - 57 8356 c.8352T>C c.(8350-8352)AAT>AAC p.N2784N UBR4_uc001bbk.1_Silent_p.N466N NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 2784 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) AGGGGTTGCCATTGTTGACAT 0.557 9 110 --- --- --- --- PASS ZSWIM5 57643 broad.mit.edu 37 1 45671871 45671871 + Missense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr1:45671871C>A uc001cnd.2 - 1 380 c.152G>T c.(151-153)TGC>TTC p.C51F NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN zinc finger, SWIM domain containing 5 51 zinc ion binding 0 Acute lymphoblastic leukemia(166;0.155) GAGGACCAGGCAGCTGCTGCC 0.716 2 1 --- --- --- --- PASS SLC35D1 23169 broad.mit.edu 37 1 67515497 67515497 + Silent SNP A G G TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr1:67515497A>G uc001ddk.2 - 6 885 c.501T>C c.(499-501)TTT>TTC p.F167F SLC35D1_uc010oph.1_Silent_p.F88F NM_015139 NP_055954 Q9NTN3 S35D1_HUMAN solute carrier family 35 (UDP-glucuronic 167 Helical; (Potential). chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process integral to endoplasmic reticulum membrane UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity 0 Lorazepam(DB00186) TAATCATTGCAAATACAGTCA 0.308 6 55 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70482168 70482168 + Missense_Mutation SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr1:70482168C>T uc001dep.2 + 12 1187 c.1157C>T c.(1156-1158)TCA>TTA p.S386L LRRC7_uc009wbg.2_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 386 LRR 16. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TTACCATTCTCATTTACCAAA 0.259 11 136 --- --- --- --- PASS ZRANB2 9406 broad.mit.edu 37 1 71534977 71534977 + Missense_Mutation SNP G C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr1:71534977G>C uc001dft.2 - 8 819 c.752C>G c.(751-753)TCT>TGT p.S251C ZRANB2_uc001dfs.2_Missense_Mutation_p.S251C|uc010oqr.1_5'Flank|MIR186_hsa-mir-186|MI0000483_5'Flank NM_203350 NP_976225 O95218 ZRAB2_HUMAN zinc finger protein 265 isoform 1 251 Arg/Ser-rich.|Required for nuclear targeting. mRNA processing|RNA splicing nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 CGACCCACGAGATCTCGAACG 0.433 5 79 --- --- --- --- PASS MSH4 4438 broad.mit.edu 37 1 76280711 76280711 + Silent SNP T C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr1:76280711T>C uc001dhd.1 + 5 746 c.705T>C c.(703-705)GTT>GTC p.V235V NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 235 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 TTCAGAATGTTAATTTCACTA 0.343 MMR 7 78 --- --- --- --- PASS CCDC18 343099 broad.mit.edu 37 1 93677773 93677773 + Missense_Mutation SNP A T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr1:93677773A>T uc001dpq.2 + 11 1972 c.1804A>T c.(1804-1806)AGT>TGT p.S602C CCDC18_uc009wdl.1_Missense_Mutation_p.S163C NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 484 ovary(2)|breast(2)|pancreas(1) 5 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) TAGCAAATTAAGTAGTTTAGA 0.318 7 315 --- --- --- --- PASS BOLA1 51027 broad.mit.edu 37 1 149871795 149871795 + Silent SNP G T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr1:149871795G>T uc001etf.2 + 2 304 c.183G>T c.(181-183)CCG>CCT p.P61P NM_016074 NP_057158 Q9Y3E2 BOLA1_HUMAN bolA-like 1 61 extracellular region protein binding ovary(1) 1 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) ACGCGGTCCCGCCTGGCAGTG 0.677 5 65 --- --- --- --- PASS CHRNB2 1141 broad.mit.edu 37 1 154544128 154544128 + Missense_Mutation SNP A G G TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr1:154544128A>G uc001ffg.2 + 5 1093 c.829A>G c.(829-831)ACG>GCG p.T277A NM_000748 NP_000739 P17787 ACHB2_HUMAN neuronal nicotinic acetylcholine receptor beta 2 277 Helical; (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) GCTGGCGCTCACGGTCTTCCT 0.582 15 189 --- --- --- --- PASS GPATCH4 54865 broad.mit.edu 37 1 156565284 156565284 + Missense_Mutation SNP A T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr1:156565284A>T uc001fpm.2 - 8 888 c.849T>A c.(847-849)AAT>AAA p.N283K APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.2_Missense_Mutation_p.N278K NM_015590 NP_056405 Q5T3I0 GPTC4_HUMAN G patch domain containing 4 isoform 1 278 intracellular nucleic acid binding ovary(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCTCTCTGCTATTCAATTCCC 0.493 148 497 --- --- --- --- PASS CD1C 911 broad.mit.edu 37 1 158263072 158263072 + Silent SNP G T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr1:158263072G>T uc001fru.2 + 5 1252 c.960G>T c.(958-960)GTG>GTT p.V320V CD1C_uc001frv.2_Intron NM_001765 NP_001756 P29017 CD1C_HUMAN CD1C antigen precursor 320 Helical; (Potential). antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding ovary(2)|skin(1)|pancreas(1) 4 all_hematologic(112;0.0378) TAGTCCTTGTGTTATGGTTTA 0.393 30 515 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158650398 158650398 + Missense_Mutation SNP T G G TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr1:158650398T>G uc001fst.1 - 5 852 c.653A>C c.(652-654)AAC>ACC p.N218T NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 218 Spectrin 3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GGCATATTGGTTCACTTCAAC 0.453 49 244 --- --- --- --- PASS NDUFS2 4720 broad.mit.edu 37 1 161179712 161179712 + Silent SNP A T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr1:161179712A>T uc001fyv.2 + 7 1141 c.693A>T c.(691-693)GGA>GGT p.G231G NDUFS2_uc010pki.1_Silent_p.G133G|NDUFS2_uc001fyw.2_Silent_p.G231G|NDUFS2_uc010pkj.1_Silent_p.G180G|NDUFS2_uc001fyx.2_Silent_p.G231G NM_004550 NP_004541 O75306 NDUS2_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 2 231 mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding skin(1) 1 all_cancers(52;1.16e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) NADH(DB00157) GGCCAGGAGGAGTGCACCAGG 0.547 OREG0013941 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 45 --- --- --- --- PASS DENND1B 163486 broad.mit.edu 37 1 197509126 197509126 + Missense_Mutation SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr1:197509126C>T uc010ppe.1 - 19 1761 c.1423G>A c.(1423-1425)GGA>AGA p.G475R DENND1B_uc010ppf.1_RNA NM_001142795 NP_001136267 Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B isoform 1 Error:Variant_position_missing_in_Q6P3S1_after_alignment clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity 0 GAGTTTCCTCCCTTTTCATTG 0.338 4 115 --- --- --- --- PASS TRAF3IP3 80342 broad.mit.edu 37 1 209933511 209933511 + Missense_Mutation SNP C G G TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr1:209933511C>G uc001hho.2 + 3 417 c.127C>G c.(127-129)CGC>GGC p.R43G TRAF3IP3_uc001hhl.2_Missense_Mutation_p.R43G|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.R43G|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.R43G|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.R43G NM_025228 NP_079504 Q9Y228 T3JAM_HUMAN TRAF3-interacting JNK-activating modulator 43 Cytoplasmic (Potential). integral to membrane protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.045) GACCACTTGCCGCCAGGTGGG 0.612 4 61 --- --- --- --- PASS EPRS 2058 broad.mit.edu 37 1 220152836 220152836 + Missense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr1:220152836C>A uc001hly.1 - 27 4103 c.3833G>T c.(3832-3834)CGA>CTA p.R1278L NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 1278 Prolyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) ACCAATAGTTCGAGTTGTCAG 0.413 13 193 --- --- --- --- PASS MIA3 375056 broad.mit.edu 37 1 222806450 222806450 + Silent SNP A T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr1:222806450A>T uc001hnl.2 + 6 3345 c.3336A>T c.(3334-3336)CCA>CCT p.P1112P MIA3_uc009xea.1_Silent_p.P948P NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1112 Extracellular (Potential). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) TTCCAGGGCCAGTTACAACAG 0.353 8 602 --- --- --- --- PASS LEFTY2 7044 broad.mit.edu 37 1 226125168 226125168 + Silent SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr1:226125168C>A uc001hpt.1 - 4 1154 c.1074G>T c.(1072-1074)GCG>GCT p.A358A LEFTY2_uc010pvk.1_Silent_p.A324A|LEFTY2_uc009xek.1_3'UTR NM_003240 NP_003231 O00292 LFTY2_HUMAN endometrial bleeding associated factor 358 cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway extracellular space|platelet alpha granule lumen cytokine activity|growth factor activity|transforming growth factor beta receptor binding 0 Breast(184;0.197) TTGGCACGAGCGCCCCATCCG 0.577 5 125 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237870287 237870287 + Missense_Mutation SNP A T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr1:237870287A>T uc001hyl.1 + 68 9739 c.9619A>T c.(9619-9621)AAC>TAC p.N3207Y RYR2_uc010pxz.1_Missense_Mutation_p.N162Y NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3207 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGTTTGTCCAAACATACCGTC 0.418 72 284 --- --- --- --- PASS OR2B11 127623 broad.mit.edu 37 1 247614915 247614915 + Missense_Mutation SNP G T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr1:247614915G>T uc010pyx.1 - 1 370 c.370C>A c.(370-372)CTG>ATG p.L124M NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 124 Helical; Name=3; (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) TAGCGGTCCAGGGCCATGGCG 0.607 18 89 --- --- --- --- PASS KCNF1 3754 broad.mit.edu 37 2 11053750 11053750 + Silent SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr2:11053750C>T uc002rax.2 + 1 1688 c.1198C>T c.(1198-1200)CTG>TTG p.L400L NM_002236 NP_002227 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, 400 Helical; Name=Segment S6; (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) CGCCATCGCCCTGCCCATCCA 0.592 3 60 --- --- --- --- PASS GREB1 9687 broad.mit.edu 37 2 11770204 11770204 + Missense_Mutation SNP A T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr2:11770204A>T uc002rbk.1 + 26 4880 c.4580A>T c.(4579-4581)GAG>GTG p.E1527V GREB1_uc002rbp.1_Missense_Mutation_p.E525V NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1527 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GGCCAGCTGGAGAGCATGCGA 0.557 15 95 --- --- --- --- PASS CAD 790 broad.mit.edu 37 2 27449096 27449096 + Missense_Mutation SNP T C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr2:27449096T>C uc002rji.2 + 13 2102 c.1940T>C c.(1939-1941)CTC>CCC p.L647P CAD_uc010eyw.2_Intron NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 647 CPSase (Carbamoyl-phosphate synthase).|CPSase A.|ATP-grasp 1. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GAGTATCAGCTCCTGAGGCAG 0.542 15 70 --- --- --- --- PASS LRRTM4 80059 broad.mit.edu 37 2 77745843 77745843 + Silent SNP G A A rs34870411 TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr2:77745843G>A uc002snr.2 - 3 1567 c.1152C>T c.(1150-1152)ATC>ATT p.I384I LRRTM4_uc002snq.2_Silent_p.I384I|LRRTM4_uc002sns.2_Silent_p.I384I|LRRTM4_uc002snt.2_Silent_p.I385I NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 384 Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) TAGGTCTAGGGATAATCAGAG 0.488 6 90 --- --- --- --- PASS CD8B 926 broad.mit.edu 37 2 87085349 87085349 + Silent SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr2:87085349C>T uc002srz.2 - 2 284 c.234G>A c.(232-234)GGG>GGA p.G78G RMND5A_uc002srs.3_Intron|CD8B_uc002srw.2_Silent_p.G78G|CD8B_uc002srx.2_Silent_p.G78G|CD8B_uc002sry.2_Silent_p.G78G|CD8B_uc010fgt.2_Silent_p.G78G|CD8B_uc002ssa.2_Silent_p.G78G|CD8B_uc010yto.1_Silent_p.G78G NM_004931 NP_004922 P10966 CD8B_HUMAN CD8b antigen isoform 5 precursor 78 Ig-like V-type.|Extracellular (Potential). immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction early endosome|extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding upper_aerodigestive_tract(1)|skin(1) 2 CGTGGATAGTCCCTTTTGCGG 0.552 11 114 --- --- --- --- PASS IL1RL2 8808 broad.mit.edu 37 2 102851383 102851383 + Missense_Mutation SNP G C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr2:102851383G>C uc002tbs.2 + 11 1450 c.1324G>C c.(1324-1326)GTT>CTT p.V442L IL1RL2_uc002tbt.2_Missense_Mutation_p.V324L NM_003854 NP_003845 Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 precursor 442 TIR.|Cytoplasmic (Potential). cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity ovary(2) 2 CGATGAAAACGTTAAGCTGTG 0.473 17 95 --- --- --- --- PASS GCC2 9648 broad.mit.edu 37 2 109086493 109086493 + Silent SNP T C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr2:109086493T>C uc002tec.2 + 6 862 c.708T>C c.(706-708)AGT>AGC p.S236S GCC2_uc002ted.2_Silent_p.S135S NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 236 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 ATATTAATAGTTTGCAGGAAG 0.373 11 193 --- --- --- --- PASS POTEE 445582 broad.mit.edu 37 2 131976314 131976314 + Silent SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr2:131976314C>T uc002tsn.2 + 1 391 c.339C>T c.(337-339)GGC>GGT p.G113G PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 113 ATP binding 0 GGGGGAGCGGCAAGAGCAAGG 0.602 9 204 --- --- --- --- PASS PKP4 8502 broad.mit.edu 37 2 159537044 159537044 + Missense_Mutation SNP A C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr2:159537044A>C uc002tzv.2 + 22 3694 c.3434A>C c.(3433-3435)GAT>GCT p.D1145A PKP4_uc002tzw.2_Missense_Mutation_p.D1102A|PKP4_uc002tzx.2_Missense_Mutation_p.D802A|PKP4_uc002uaa.2_Missense_Mutation_p.D954A|uc002uab.1_Intron|PKP4_uc002uac.2_Missense_Mutation_p.D326A|PKP4_uc002uad.2_RNA NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a 1145 cell adhesion desmosome protein binding ovary(5)|skin(2) 7 CCTTATTTTGATGACCGAGTT 0.373 HNSCC(62;0.18) 6 323 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166909449 166909449 + Missense_Mutation SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr2:166909449C>T uc010zcz.1 - 5 625 c.607G>A c.(607-609)GTC>ATC p.V203I SCN1A_uc002udo.3_Missense_Mutation_p.V72I|SCN1A_uc010fpk.2_Missense_Mutation_p.V72I NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 203 Helical; Name=S3 of repeat I; (By similarity).|I. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AACTCTGTGACGTACCTGTAA 0.438 4 68 --- --- --- --- PASS RBM45 129831 broad.mit.edu 37 2 178988913 178988913 + Silent SNP A G G TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr2:178988913A>G uc002ulv.2 + 8 1220 c.1128A>G c.(1126-1128)CCA>CCG p.P376P NM_152945 NP_694453 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 378 cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) TTGTACTTCCATCATGCAAAA 0.358 4 225 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179485341 179485341 + Missense_Mutation SNP T C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr2:179485341T>C uc010zfg.1 - 197 38427 c.38203A>G c.(38203-38205)AGG>GGG p.R12735G TTN_uc010zfh.1_Missense_Mutation_p.R6430G|TTN_uc010zfi.1_Missense_Mutation_p.R6363G|TTN_uc010zfj.1_Missense_Mutation_p.R6238G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 13662 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) TCAACAATCCTAAGGTCTTCC 0.323 9 141 --- --- --- --- PASS COL4A3 1285 broad.mit.edu 37 2 228135511 228135511 + Missense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr2:228135511C>A uc002vom.1 + 25 1763 c.1601C>A c.(1600-1602)CCA>CAA p.P534Q COL4A3_uc002von.1_Missense_Mutation_p.P534Q|COL4A3_uc002voo.1_Missense_Mutation_p.P534Q|COL4A3_uc002vop.1_Missense_Mutation_p.P534Q|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 534 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) CAGGGTGACCCAGGACTTAAA 0.493 6 100 --- --- --- --- PASS TM4SF20 79853 broad.mit.edu 37 2 228243969 228243969 + Missense_Mutation SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr2:228243969C>T uc002vpb.2 - 1 54 c.16G>A c.(16-18)GGA>AGA p.G6R NM_024795 NP_079071 Q53R12 T4S20_HUMAN transmembrane 4 L six family member 20 6 Cytoplasmic (Potential). integral to membrane|plasma membrane 0 Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115) GATGTCCATCCTTCGCAGCAG 0.463 5 181 --- --- --- --- PASS C2orf54 79919 broad.mit.edu 37 2 241829491 241829491 + Silent SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr2:241829491G>A uc002wae.3 - 3 984 c.825C>T c.(823-825)CTC>CTT p.L275L C2orf54_uc002wac.2_Silent_p.L107L|C2orf54_uc002wad.2_Silent_p.L126L NM_001085437 NP_001078906 Q08AI8 CB054_HUMAN hypothetical protein LOC79919 isoform 1 275 0 all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) TGACCCGGTCGAGGATGGAGA 0.662 4 49 --- --- --- --- PASS IL5RA 3568 broad.mit.edu 37 3 3139576 3139576 + Missense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr3:3139576C>A uc011ask.1 - 8 1331 c.687G>T c.(685-687)CAG>CAT p.Q229H IL5RA_uc010hbq.2_Missense_Mutation_p.Q229H|IL5RA_uc010hbr.2_Intron|IL5RA_uc010hbs.2_Missense_Mutation_p.Q229H|IL5RA_uc011asl.1_Missense_Mutation_p.Q229H|IL5RA_uc011asm.1_Missense_Mutation_p.Q229H|IL5RA_uc010hbt.2_Missense_Mutation_p.Q229H|IL5RA_uc011asn.1_Missense_Mutation_p.Q229H|IL5RA_uc010hbu.2_Missense_Mutation_p.Q229H NM_000564 NP_000555 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha isoform 1 229 Extracellular (Potential). cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity ovary(1) 1 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) GGGCAAACAGCTGATCAAAGG 0.398 6 84 --- --- --- --- PASS XIRP1 165904 broad.mit.edu 37 3 39227577 39227577 + Silent SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr3:39227577G>A uc003cjk.1 - 2 3581 c.3360C>T c.(3358-3360)GTC>GTT p.V1120V XIRP1_uc003cji.2_Intron|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1120 actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CTTCCCTACTGACCTTTCTGG 0.602 11 191 --- --- --- --- PASS LRRC2 79442 broad.mit.edu 37 3 46574382 46574382 + Nonsense_Mutation SNP T A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr3:46574382T>A uc010hji.2 - 5 872 c.508A>T c.(508-510)AAA>TAA p.K170* LRRC2_uc003cpu.3_Nonsense_Mutation_p.K170* NM_024512 NP_078788 Q9BYS8 LRRC2_HUMAN leucine rich repeat containing 2 170 LRR 3. ovary(1) 1 Ovarian(412;0.0563) OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254) TTGAGTTCTTTCAGGTTCTTC 0.358 16 233 --- --- --- --- PASS TLR9 54106 broad.mit.edu 37 3 52257452 52257452 + Missense_Mutation SNP T A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr3:52257452T>A uc003dda.1 - 2 1514 c.880A>T c.(880-882)AGT>TGT p.S294C TLR9_uc003ddb.2_Missense_Mutation_p.S391C NM_017442 NP_059138 Q9NR96 TLR9_HUMAN toll-like receptor 9 isoform A precursor 294 LRR 9.|Extracellular (Potential). defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity large_intestine(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) GAGAGAGAACTGTCCTTCAAC 0.562 6 64 --- --- --- --- PASS CADPS 8618 broad.mit.edu 37 3 62423878 62423878 + Silent SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr3:62423878C>T uc003dll.2 - 28 4038 c.3678G>A c.(3676-3678)GGG>GGA p.G1226G CADPS_uc003dlj.1_Silent_p.G181G|CADPS_uc003dlk.1_Silent_p.G674G|CADPS_uc003dlm.2_Silent_p.G1187G|CADPS_uc003dln.2_Silent_p.G1147G NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 1226 Mediates targeting and association with DCVs (By similarity). 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) CCACGTCCATCCCGGGTTTCT 0.463 11 62 --- --- --- --- PASS ACPP 55 broad.mit.edu 37 3 132071602 132071602 + Silent SNP T C C rs116804987 byFrequency TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr3:132071602T>C uc010htp.2 + 9 993 c.903T>C c.(901-903)GAT>GAC p.D301D ACPP_uc003eon.3_Silent_p.D268D|ACPP_uc003eop.3_Silent_p.D301D NM_001099 NP_001090 P15309 PPAP_HUMAN acid phosphatase, prostate short isoform 301 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity ovary(1) 1 TGGCGCTAGATGTTTACAACG 0.423 30 200 --- --- --- --- PASS ZIC4 84107 broad.mit.edu 37 3 147113823 147113823 + Missense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr3:147113823C>A uc003ewd.1 - 3 777 c.504G>T c.(502-504)CAG>CAT p.Q168H ZIC4_uc003ewc.1_Missense_Mutation_p.Q98H|ZIC4_uc011bno.1_Missense_Mutation_p.Q218H NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 168 nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 TGTGGTTGGCCTGTTCCGGGC 0.607 30 226 --- --- --- --- PASS IGSF10 285313 broad.mit.edu 37 3 151161030 151161030 + Nonsense_Mutation SNP A T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr3:151161030A>T uc011bod.1 - 5 5705 c.5705T>A c.(5704-5706)TTG>TAG p.L1902* IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 1902 Ig-like C2-type 5. cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCTTATATACAAAGTCCCATT 0.433 8 209 --- --- --- --- PASS MME 4311 broad.mit.edu 37 3 154862192 154862192 + Silent SNP T C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr3:154862192T>C uc010hvr.1 + 14 1573 c.1362T>C c.(1360-1362)ACT>ACC p.T454T MME_uc003fab.1_Silent_p.T454T|MME_uc003fac.1_Silent_p.T454T|MME_uc003fad.1_Silent_p.T454T|MME_uc003fae.1_Silent_p.T454T NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 454 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) TTATTCAGACTTTAGATGACC 0.368 5 159 --- --- --- --- PASS ZBBX 79740 broad.mit.edu 37 3 167023649 167023649 + Missense_Mutation SNP C G G TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr3:167023649C>G uc003fep.2 - 17 1830 c.1507G>C c.(1507-1509)GAA>CAA p.E503Q ZBBX_uc011bpc.1_Missense_Mutation_p.E503Q|ZBBX_uc003feq.2_Missense_Mutation_p.E474Q NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 503 intracellular zinc ion binding ovary(2) 2 AAATTTCTTTCAAAGGAGGTG 0.343 9 84 --- --- --- --- PASS TTC14 151613 broad.mit.edu 37 3 180324305 180324305 + Missense_Mutation SNP A T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr3:180324305A>T uc003fkk.2 + 9 1218 c.1086A>T c.(1084-1086)GAA>GAT p.E362D TTC14_uc003fkl.2_Missense_Mutation_p.E362D|TTC14_uc003fkm.2_Missense_Mutation_p.E362D NM_133462 NP_597719 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 isoform a 362 TPR 3. RNA binding ovary(1) 1 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) AAGCAATAGAAGATTTTGAGC 0.383 17 292 --- --- --- --- PASS CCDC39 339829 broad.mit.edu 37 3 180372682 180372682 + Missense_Mutation SNP G C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr3:180372682G>C uc010hxe.2 - 7 913 c.798C>G c.(796-798)ATC>ATG p.I266M CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 266 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) CCAAAAACTTGATCTTTTCTT 0.308 7 40 --- --- --- --- PASS LAMP3 27074 broad.mit.edu 37 3 182841950 182841950 + Silent SNP G T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr3:182841950G>T uc003flh.3 - 6 1394 c.1170C>A c.(1168-1170)ATC>ATA p.I390I NM_014398 NP_055213 Q9UQV4 LAMP3_HUMAN lysosomal-associated membrane protein 3 390 Helical; (Potential). cell proliferation integral to membrane|lysosomal membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) GACCAACCACGATGGCCCCAA 0.463 32 467 --- --- --- --- PASS HTR3C 170572 broad.mit.edu 37 3 183778105 183778105 + Missense_Mutation SNP T A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr3:183778105T>A uc003fmk.2 + 9 1343 c.1309T>A c.(1309-1311)TCC>ACC p.S437T NM_130770 NP_570126 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine receptor 3 subunit C 437 Helical; Name=4; (Potential). integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CATGGCCTCCTCCATCCTTAC 0.572 54 528 --- --- --- --- PASS HTR3E 285242 broad.mit.edu 37 3 183822650 183822650 + Silent SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr3:183822650C>A uc010hxq.2 + 5 931 c.465C>A c.(463-465)CCC>CCA p.P155P HTR3E_uc003fml.3_Silent_p.P140P|HTR3E_uc003fmm.2_Silent_p.P170P|HTR3E_uc010hxr.2_Silent_p.P181P|HTR3E_uc003fmn.2_Silent_p.P155P NM_182589 NP_872395 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine receptor 3 subunit E 155 Extracellular (Potential). integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) ATAAGAAACCCATGAAGGTGG 0.478 29 342 --- --- --- --- PASS EIF2B5 8893 broad.mit.edu 37 3 183859720 183859720 + Silent SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr3:183859720C>T uc003fmp.2 + 8 1528 c.1164C>T c.(1162-1164)AAC>AAT p.N388N EIF2B5_uc003fmq.2_Silent_p.N109N|EIF2B5_uc003fmr.2_5'Flank NM_003907 NP_003898 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, 388 astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding ovary(5) 5 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CAGGTGATAACGTGGTGCTGG 0.567 10 201 --- --- --- --- PASS SENP5 205564 broad.mit.edu 37 3 196650360 196650360 + Missense_Mutation SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr3:196650360C>T uc003fwz.3 + 7 2209 c.1960C>T c.(1960-1962)CTC>TTC p.L654F SENP5_uc011bty.1_Intron NM_152699 NP_689912 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 654 Protease. cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity breast(2)|lung(1) 3 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) TACTGTGACACTCTCTAATCG 0.323 56 198 --- --- --- --- PASS HTT 3064 broad.mit.edu 37 4 3189537 3189537 + Missense_Mutation SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr4:3189537G>A uc011bvq.1 + 40 5300 c.5155G>A c.(5155-5157)GGG>AGG p.G1719R NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 1717 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GTTAAGAGATGGGGACAGTAC 0.378 7 216 --- --- --- --- PASS PDGFRA 5156 broad.mit.edu 37 4 54292082 54292082 + Missense_Mutation SNP A G G TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr4:54292082A>G uc003haa.2 + 12 1153 c.967A>G c.(967-969)ATC>GTC p.I323V FIP1L1_uc003gzx.3_Missense_Mutation_p.I308V|FIP1L1_uc011bzt.1_Missense_Mutation_p.I287V|FIP1L1_uc003gzy.2_Missense_Mutation_p.I323V|FIP1L1_uc011bzu.1_Missense_Mutation_p.I308V|FIP1L1_uc003gzz.2_Missense_Mutation_p.I249V|FIP1L1_uc003hab.2_Missense_Mutation_p.I288V|FIP1L1_uc003hac.2_Missense_Mutation_p.I68V|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_5'UTR|FIP1L1_uc003hae.2_5'Flank 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) GACTATAACTATCAGCCGAGT 0.333 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 8 165 --- --- --- --- PASS KDR 3791 broad.mit.edu 37 4 55953823 55953823 + Nonsense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr4:55953823C>A uc003has.2 - 27 3915 c.3613G>T c.(3613-3615)GAG>TAG p.E1205* KDR_uc003hat.1_Nonsense_Mutation_p.E1205* NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 1205 Cytoplasmic (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CATACTTCCTCCTCCTCCATA 0.488 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 6 220 --- --- --- --- PASS PDLIM5 10611 broad.mit.edu 37 4 95376450 95376450 + Missense_Mutation SNP A G G TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr4:95376450A>G uc003hti.2 + 2 162 c.11A>G c.(10-12)TAC>TGC p.Y4C PDLIM5_uc003htf.2_Missense_Mutation_p.Y4C|PDLIM5_uc003htg.2_Missense_Mutation_p.Y4C|PDLIM5_uc011cdx.1_Missense_Mutation_p.Y4C|PDLIM5_uc003hth.2_Missense_Mutation_p.Y4C|PDLIM5_uc003htj.2_5'UTR|PDLIM5_uc003htk.2_Missense_Mutation_p.Y4C|PDLIM5_uc011cdy.1_5'UTR NM_006457 NP_006448 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 isoform a 4 PDZ. regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding ovary(1)|skin(1) 2 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) ATGAGCAACTACAGTGTGTCA 0.423 3 53 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114277103 114277103 + Silent SNP A G G TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr4:114277103A>G uc003ibe.3 + 38 7429 c.7329A>G c.(7327-7329)CTA>CTG p.L2443L ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Intron|ANK2_uc011cgb.1_Silent_p.L2458L NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2410 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) GCCCTGTGCTAGAAGATAACT 0.517 10 153 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126241388 126241388 + Silent SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr4:126241388C>T uc003ifj.3 + 1 3822 c.3822C>T c.(3820-3822)GAC>GAT p.D1274D NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1274 Cadherin 12.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GCAAATTAGACTATGAAGCAA 0.353 14 187 --- --- --- --- PASS PCDH10 57575 broad.mit.edu 37 4 134071806 134071806 + Missense_Mutation SNP G T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr4:134071806G>T uc003iha.2 + 1 1337 c.511G>T c.(511-513)GTG>TTG p.V171L uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.V171L NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 171 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) CTCCCTGGACGTGCAGACCCA 0.632 5 127 --- --- --- --- PASS TMEM184C 55751 broad.mit.edu 37 4 148549579 148549579 + Missense_Mutation SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr4:148549579G>A uc003ila.3 + 5 1134 c.565G>A c.(565-567)GTT>ATT p.V189I NM_018241 NP_060711 Q9NVA4 T184C_HUMAN transmembrane protein 184C 189 Helical; (Potential). integral to membrane 0 CACCACCATCGTTGCTTTGTA 0.338 9 212 --- --- --- --- PASS DCHS2 54798 broad.mit.edu 37 4 155219360 155219360 + Missense_Mutation SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr4:155219360G>A uc003inw.2 - 18 4741 c.4741C>T c.(4741-4743)CCA>TCA p.P1581S NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1581 Cadherin 13. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TCCAAAACTGGATCATTGTCA 0.453 13 186 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187539060 187539060 + Nonsense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr4:187539060C>A uc003izf.2 - 10 8868 c.8680G>T c.(8680-8682)GAA>TAA p.E2894* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2894 Extracellular (Potential).|Cadherin 26. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TGGATCTTTTCACCATGATCT 0.438 HNSCC(5;0.00058) 30 120 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187554967 187554967 + Silent SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr4:187554967G>A uc003izf.2 - 7 4382 c.4194C>T c.(4192-4194)TAC>TAT p.Y1398Y NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1398 Extracellular (Potential).|Cadherin 12. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 AGTGACTGTCGTAGTTGCCAC 0.418 HNSCC(5;0.00058) 11 209 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13700924 13700924 + Silent SNP T C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr5:13700924T>C uc003jfd.2 - 78 13590 c.13548A>G c.(13546-13548)GAA>GAG p.E4516E DNAH5_uc003jfc.2_Silent_p.E684E NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4516 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) ATTTGGTGACTTCATTGCAAA 0.483 Kartagener_syndrome 21 377 --- --- --- --- PASS RNASEN 29102 broad.mit.edu 37 5 31515208 31515208 + Missense_Mutation SNP C T T rs151137891 by1000genomes TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr5:31515208C>T uc003jhg.2 - 7 1536 c.1177G>A c.(1177-1179)GAG>AAG p.E393K RNASEN_uc003jhh.2_Missense_Mutation_p.E356K|RNASEN_uc003jhi.2_Missense_Mutation_p.E356K|RNASEN_uc010iui.1_Missense_Mutation_p.E316K NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 393 gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity 0 ATGGTCTCCTCGGGCTCTTTT 0.463 24 279 --- --- --- --- PASS RXFP3 51289 broad.mit.edu 37 5 33937978 33937978 + Missense_Mutation SNP C T T rs143656786 TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr5:33937978C>T uc003jic.1 + 1 1490 c.1133C>T c.(1132-1134)GCG>GTG p.A378V NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 378 Cytoplasmic (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 GTGTGCCTAGCGCACTCCAAC 0.617 11 104 --- --- --- --- PASS C6 729 broad.mit.edu 37 5 41186243 41186243 + Missense_Mutation SNP T C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr5:41186243T>C uc003jmk.2 - 6 865 c.655A>G c.(655-657)AAA>GAA p.K219E C6_uc003jml.1_Missense_Mutation_p.K219E NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 219 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) TTGACAGTTTTACATATTCCT 0.438 31 166 --- --- --- --- PASS RNF180 285671 broad.mit.edu 37 5 63510147 63510147 + Missense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr5:63510147C>A uc003jti.2 + 4 1104 c.994C>A c.(994-996)CTG>ATG p.L332M RNF180_uc003jth.3_Missense_Mutation_p.L332M|RNF180_uc010iws.2_Intron NM_001113561 NP_001107033 Q86T96 RN180_HUMAN ring finger protein 180 isoform 1 332 Interaction with ZIC2 (By similarity).|Cytoplasmic (Potential). integral to membrane|nuclear envelope zinc ion binding 0 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234) Lung(70;0.114) TCTGACTTTCCTGATGGACCT 0.512 27 122 --- --- --- --- PASS VCAN 1462 broad.mit.edu 37 5 82835875 82835875 + Missense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr5:82835875C>A uc003kii.3 + 8 7409 c.7053C>A c.(7051-7053)TTC>TTA p.F2351L VCAN_uc003kij.3_Missense_Mutation_p.F1364L|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.F1015L NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2351 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) CTCTCCCTTTCTCCACGGACA 0.458 4 130 --- --- --- --- PASS HAPLN1 1404 broad.mit.edu 37 5 82969301 82969301 + Missense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr5:82969301C>A uc003kim.2 - 1 113 c.42G>T c.(40-42)TGG>TGT p.W14C HAPLN1_uc003kin.2_Missense_Mutation_p.W14C NM_001884 NP_001875 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 14 cell adhesion proteinaceous extracellular matrix hyaluronic acid binding large_intestine(3)|ovary(1)|skin(1) 5 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) GATGATCAGCCCAGCAGATTG 0.398 9 195 --- --- --- --- PASS PDE6A 5145 broad.mit.edu 37 5 149240474 149240474 + Missense_Mutation SNP G C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr5:149240474G>C uc003lrg.3 - 22 2687 c.2567C>G c.(2566-2568)TCC>TGC p.S856C NM_000440 NP_000431 P16499 PDE6A_HUMAN phosphodiesterase 6A 856 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GATGCAGCAGGACTTGGATGT 0.562 3 55 --- --- --- --- PASS GABRA1 2554 broad.mit.edu 37 5 161277820 161277820 + Missense_Mutation SNP A T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr5:161277820A>T uc010jiw.2 + 3 472 c.4A>T c.(4-6)AGG>TGG p.R2W GABRA1_uc010jix.2_Missense_Mutation_p.R2W|GABRA1_uc010jiy.2_Missense_Mutation_p.R2W|GABRA1_uc003lyx.3_Missense_Mutation_p.R2W|GABRA1_uc010jiz.2_Missense_Mutation_p.R2W|GABRA1_uc010jja.2_Missense_Mutation_p.R2W|GABRA1_uc010jjb.2_Missense_Mutation_p.R2W NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) GCCCGCGATGAGGAAAAGTCC 0.468 5 191 --- --- --- --- PASS NUP153 9972 broad.mit.edu 37 6 17640218 17640218 + Missense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr6:17640218C>A uc003ncd.1 - 15 1998 c.1798G>T c.(1798-1800)GCA>TCA p.A600S NUP153_uc011dje.1_Missense_Mutation_p.A631S|NUP153_uc010jpl.1_Intron NM_005124 NP_005115 P49790 NU153_HUMAN nucleoporin 153kDa 600 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding lung(4)|ovary(2)|breast(2)|skin(1) 9 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) AGGATTTCTGCAGGTCTAAAA 0.333 18 310 --- --- --- --- PASS NUP153 9972 broad.mit.edu 37 6 17640222 17640222 + Missense_Mutation SNP T G G TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr6:17640222T>G uc003ncd.1 - 15 1994 c.1794A>C c.(1792-1794)AGA>AGC p.R598S NUP153_uc011dje.1_Missense_Mutation_p.R629S|NUP153_uc010jpl.1_Intron NM_005124 NP_005115 P49790 NU153_HUMAN nucleoporin 153kDa 598 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding lung(4)|ovary(2)|breast(2)|skin(1) 9 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) TTTCTGCAGGTCTAAAAGGAC 0.338 19 308 --- --- --- --- PASS HIST1H1D 3007 broad.mit.edu 37 6 26234964 26234964 + Silent SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr6:26234964C>T uc003nhd.2 - 1 253 c.198G>A c.(196-198)GCG>GCA p.A66A NM_005320 NP_005311 P16402 H13_HUMAN histone cluster 1, H1d 66 H15. nucleosome assembly nucleosome|nucleus DNA binding skin(1) 1 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) CAGCCGCAAGCGCTTTCTTAA 0.537 12 161 --- --- --- --- PASS HIST1H2BK 85236 broad.mit.edu 37 6 27114544 27114544 + Nonsense_Mutation SNP T A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr6:27114544T>A uc003nix.1 - 1 76 c.34A>T c.(34-36)AAG>TAG p.K12* HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank NM_080593 NP_542160 O60814 H2B1K_HUMAN histone cluster 1, H2bk 12 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding 0 GAGCCCTTCTTGGGCGCGGGA 0.577 13 212 --- --- --- --- PASS PHF1 5252 broad.mit.edu 37 6 33381294 33381294 + Missense_Mutation SNP A G G TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr6:33381294A>G uc003oeh.2 + 6 783 c.547A>G c.(547-549)AAC>GAC p.N183D PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Missense_Mutation_p.N183D|PHF1_uc010jux.2_5'UTR NM_024165 NP_077084 O43189 PHF1_HUMAN PHD finger protein 1 isoform b 183 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(999;0.0443) ACATCTGAGCAACCGACAGCA 0.557 17 66 --- --- --- --- PASS GRM4 2914 broad.mit.edu 37 6 34004261 34004261 + Silent SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr6:34004261G>A uc003oir.3 - 8 1796 c.1626C>T c.(1624-1626)TGC>TGT p.C542C GRM4_uc011dsn.1_Silent_p.C495C|GRM4_uc010jvh.2_Silent_p.C542C|GRM4_uc010jvi.2_Silent_p.C234C|GRM4_uc003oio.2_Silent_p.C234C|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.C402C|GRM4_uc003oiq.2_Silent_p.C409C|GRM4_uc011dsm.1_Silent_p.C373C NM_000841 NP_000832 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 precursor 542 Extracellular (Potential). activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 L-Glutamic Acid(DB00142) TGCAAGGCTCGCAGTGCCAGC 0.657 33 102 --- --- --- --- PASS PACSIN1 29993 broad.mit.edu 37 6 34499478 34499478 + Missense_Mutation SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr6:34499478C>T uc003ojo.2 + 9 1345 c.1139C>T c.(1138-1140)CCC>CTC p.P380L PACSIN1_uc003ojp.2_Missense_Mutation_p.P380L NM_020804 NP_065855 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in 380 endocytosis protein kinase activity 0 GGCGCCAACCCCTTTGAGGAC 0.642 9 264 --- --- --- --- PASS DAAM2 23500 broad.mit.edu 37 6 39864710 39864710 + Missense_Mutation SNP G C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr6:39864710G>C uc003oow.2 + 20 2620 c.2464G>C c.(2464-2466)GTG>CTG p.V822L DAAM2_uc003oox.2_Missense_Mutation_p.V822L NM_015345 NP_056160 Q86T65 DAAM2_HUMAN dishevelled associated activator of 822 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2)|skin(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) CGGGTTCCGGGTGGCCAGCCT 0.597 9 59 --- --- --- --- PASS TBCC 6903 broad.mit.edu 37 6 42713543 42713543 + Missense_Mutation SNP C G G TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr6:42713543C>G uc003osl.2 - 1 342 c.269G>C c.(268-270)CGG>CCG p.R90P NM_003192 NP_003183 Q15814 TBCC_HUMAN beta-tubulin cofactor C 90 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|photoreceptor connecting cilium chaperone binding|GTPase activity 0 Colorectal(47;0.196) all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125) CCCCTGGAGCCGAGAGGCCGC 0.647 5 72 --- --- --- --- PASS MANEA 79694 broad.mit.edu 37 6 96053893 96053893 + Missense_Mutation SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr6:96053893C>T uc003poo.1 + 5 1141 c.1001C>T c.(1000-1002)TCA>TTA p.S334L NM_024641 NP_078917 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 334 Catalytic (Probable).|Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity ovary(2)|breast(1) 3 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) TATGGCTCATCACATCAGAAT 0.363 13 151 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152660412 152660412 + Missense_Mutation SNP T G G TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr6:152660412T>G uc010kiw.2 - 75 12917 c.12315A>C c.(12313-12315)AAA>AAC p.K4105N SYNE1_uc003qot.3_Missense_Mutation_p.K4034N|SYNE1_uc003qou.3_Missense_Mutation_p.K4105N|SYNE1_uc010kja.1_Missense_Mutation_p.K810N NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4105 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTGCTGTGGTTTTCACCGAAG 0.393 HNSCC(10;0.0054) 8 161 --- --- --- --- PASS FNDC1 84624 broad.mit.edu 37 6 159618523 159618523 + Missense_Mutation SNP T A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr6:159618523T>A uc010kjv.2 + 2 370 c.170T>A c.(169-171)GTC>GAC p.V57D FNDC1_uc010kjw.1_Missense_Mutation_p.V5D NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 57 Fibronectin type-III 1. extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GGCCTGAAAGTCACGTGGGAC 0.453 5 282 --- --- --- --- PASS THSD7A 221981 broad.mit.edu 37 7 11501650 11501650 + Missense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr7:11501650C>A uc003ssf.3 - 10 2741 c.2489G>T c.(2488-2490)TGC>TTC p.C830F NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 830 TSP type-1 8.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GTAGCTTTGGCACGCTTGAGG 0.527 HNSCC(18;0.044) 8 501 --- --- --- --- PASS INMT 11185 broad.mit.edu 37 7 30791874 30791874 + Silent SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr7:30791874G>A uc003tbs.1 + 1 124 c.108G>A c.(106-108)GAG>GAA p.E36E FAM188B_uc010kwe.2_5'UTR|INMT_uc010kwc.1_Intron|INMT_uc010kwd.1_Silent_p.E36E NM_006774 NP_006765 O95050 INMT_HUMAN indolethylamine N-methyltransferase 36 cytoplasm amine N-methyltransferase activity 0 CCGAGGCCGAGATGCTGAAGT 0.577 35 118 --- --- --- --- PASS PDE1C 5137 broad.mit.edu 37 7 31862822 31862822 + Missense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr7:31862822C>A uc003tcm.1 - 14 1916 c.1447G>T c.(1447-1449)GTC>TTC p.V483F PDE1C_uc003tcn.1_Missense_Mutation_p.V483F|PDE1C_uc003tco.1_Missense_Mutation_p.V543F|PDE1C_uc003tcr.2_Missense_Mutation_p.V483F|PDE1C_uc003tcs.2_Missense_Mutation_p.V483F NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 483 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) GAGGTCTTGACACCTGATCGC 0.433 26 134 --- --- --- --- PASS ABCB4 5244 broad.mit.edu 37 7 87056086 87056086 + Missense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr7:87056086C>A uc003uiv.1 - 16 2120 c.2044G>T c.(2044-2046)GAT>TAT p.D682Y ABCB4_uc003uiw.1_Missense_Mutation_p.D682Y|ABCB4_uc003uix.1_Missense_Mutation_p.D682Y NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 682 Cytoplasmic (By similarity). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) GTTTCCACATCAAGGCTCTTC 0.363 17 161 --- --- --- --- PASS ABCB1 5243 broad.mit.edu 37 7 87179536 87179536 + Missense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr7:87179536C>A uc003uiz.1 - 13 1719 c.1301G>T c.(1300-1302)AGC>ATC p.S434I ABCB1_uc011khc.1_Missense_Mutation_p.S370I NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 434 ATP 1 (By similarity).|ABC transporter 1.|Cytoplasmic (Potential). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GACTGTTGTGCTCTTCCCACA 0.552 7 53 --- --- --- --- PASS PRKAR2B 5577 broad.mit.edu 37 7 106791406 106791406 + Missense_Mutation SNP G T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr7:106791406G>T uc003vdx.2 + 7 956 c.781G>T c.(781-783)GCC>TCC p.A261S NM_002736 NP_002727 P31323 KAP3_HUMAN cAMP-dependent protein kinase, regulatory 261 cAMP 1. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity ovary(1) 1 GAAAAACAATGCCAAAAAGAG 0.313 5 47 --- --- --- --- PASS LRRN3 54674 broad.mit.edu 37 7 110764114 110764114 + Missense_Mutation SNP C G G TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr7:110764114C>G uc003vft.3 + 4 2332 c.1286C>G c.(1285-1287)CCT>CGT p.P429R IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.P429R|LRRN3_uc003vfs.3_Missense_Mutation_p.P429R NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 429 Extracellular (Potential).|Ig-like C2-type. 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) GAGAGCTTTCCTTCTAATCTA 0.453 35 286 --- --- --- --- PASS DOCK4 9732 broad.mit.edu 37 7 111448922 111448922 + Missense_Mutation SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr7:111448922G>A uc003vfx.2 - 30 3390 c.3121C>T c.(3121-3123)CGG>TGG p.R1041W DOCK4_uc003vfw.2_Missense_Mutation_p.R482W|DOCK4_uc003vfy.2_Missense_Mutation_p.R1077W|uc003vfz.2_Intron NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1041 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) ATTGTTACCCGCATGTCACCA 0.403 3 43 --- --- --- --- PASS PPP1R3A 5506 broad.mit.edu 37 7 113518838 113518838 + Missense_Mutation SNP T A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr7:113518838T>A uc010ljy.1 - 4 2340 c.2309A>T c.(2308-2310)GAA>GTA p.E770V NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 770 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 AAACGCTGTTTCCTTTACCTC 0.403 12 259 --- --- --- --- PASS ASZ1 136991 broad.mit.edu 37 7 117007445 117007445 + Silent SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr7:117007445C>T uc003vjb.2 - 12 1299 c.1236G>A c.(1234-1236)TTG>TTA p.L412L ASZ1_uc011kno.1_Silent_p.L403L|ASZ1_uc011knp.1_Silent_p.L204L NM_130768 NP_570124 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper 412 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) CCTTTTCACTCAAATCTTCAA 0.318 5 54 --- --- --- --- PASS OR2F1 26211 broad.mit.edu 37 7 143657678 143657678 + Silent SNP T C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr7:143657678T>C uc003wds.1 + 1 659 c.615T>C c.(613-615)GTT>GTC p.V205V NM_012369 NP_036501 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, 205 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Melanoma(164;0.0903) CTAGCATTGTTCTTCTGATGA 0.468 6 190 --- --- --- --- PASS KCNH2 3757 broad.mit.edu 37 7 150648568 150648568 + Missense_Mutation SNP T C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr7:150648568T>C uc003wic.2 - 7 1926 c.1913A>G c.(1912-1914)AAG>AGG p.K638R KCNH2_uc003wib.2_Missense_Mutation_p.K298R|KCNH2_uc011kux.1_Missense_Mutation_p.K542R|KCNH2_uc003wid.2_Missense_Mutation_p.K298R|KCNH2_uc003wie.2_Missense_Mutation_p.K638R NM_000238 NP_000229 Q12809 KCNH2_HUMAN voltage-gated potassium channel, subfamily H, 638 Extracellular (Potential). K -> E (in LQT2).|Missing (in LQT2). blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity skin(3)|ovary(1) 4 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GGAGAAGATCTTCTCTGAGTT 0.587 11 215 --- --- --- --- PASS EBF2 64641 broad.mit.edu 37 8 25897562 25897562 + Missense_Mutation SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr8:25897562G>A uc003xes.1 - 5 481 c.464C>T c.(463-465)ACG>ATG p.T155M PPP2R2A_uc003xek.2_Intron|EBF2_uc003xet.1_Missense_Mutation_p.T155M NM_022659 NP_073150 Q9HAK2 COE2_HUMAN early B-cell factor 2 155 C5-type (Potential). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding ovary(3)|skin(1) 4 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) CACTTCGTGCGTCAGGAGAAC 0.602 30 269 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55537790 55537790 + Missense_Mutation SNP C G G TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr8:55537790C>G uc003xsd.1 + 4 1496 c.1348C>G c.(1348-1350)CCT>GCT p.P450A RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 450 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTATAGGCCCCCTACACCTGG 0.438 18 154 --- --- --- --- PASS SLCO5A1 81796 broad.mit.edu 37 8 70617409 70617409 + Silent SNP T G G TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr8:70617409T>G uc003xyl.2 - 6 2186 c.1479A>C c.(1477-1479)ATA>ATC p.I493I SLCO5A1_uc010lzb.2_Silent_p.I438I|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Silent_p.I493I|SLCO5A1_uc010lzc.2_Silent_p.I438I NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 493 Helical; Name=8; (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TCAATTTTTTTATAATGTAGC 0.408 15 196 --- --- --- --- PASS VPS13B 157680 broad.mit.edu 37 8 100514011 100514011 + Missense_Mutation SNP A T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr8:100514011A>T uc003yiv.2 + 26 4078 c.3967A>T c.(3967-3969)AGT>TGT p.S1323C VPS13B_uc003yiw.2_Missense_Mutation_p.S1323C|VPS13B_uc003yiu.1_Missense_Mutation_p.S1323C|VPS13B_uc003yix.1_Missense_Mutation_p.S793C NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 1323 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TGGACGTGTTAGTTTATGGAT 0.413 20 281 --- --- --- --- PASS SYBU 55638 broad.mit.edu 37 8 110598380 110598380 + Missense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr8:110598380C>A uc003ynj.3 - 4 602 c.439G>T c.(439-441)GAT>TAT p.D147Y SYBU_uc003yni.3_Missense_Mutation_p.D144Y|SYBU_uc003ynk.3_Missense_Mutation_p.D28Y|SYBU_uc010mco.2_Missense_Mutation_p.D146Y|SYBU_uc003ynl.3_Missense_Mutation_p.D146Y|SYBU_uc010mcp.2_Missense_Mutation_p.D147Y|SYBU_uc010mcq.2_Missense_Mutation_p.D147Y|SYBU_uc003yno.3_Missense_Mutation_p.D28Y|SYBU_uc010mcr.2_Missense_Mutation_p.D147Y|SYBU_uc003ynm.3_Missense_Mutation_p.D146Y|SYBU_uc003ynn.3_Missense_Mutation_p.D146Y|SYBU_uc010mcs.2_Missense_Mutation_p.D28Y|SYBU_uc010mct.2_Missense_Mutation_p.D147Y|SYBU_uc010mcu.2_Missense_Mutation_p.D146Y|SYBU_uc003ynp.3_Missense_Mutation_p.D79Y|SYBU_uc010mcv.2_Missense_Mutation_p.D147Y|SYBU_uc011lhw.1_Missense_Mutation_p.D17Y NM_001099754 NP_001093224 Q9NX95 SYBU_HUMAN Golgi-localized syntaphilin-related protein 147 Sufficient for interaction with KIF5B.|Ser-rich. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane ovary(1) 1 GAGCTAAAATCAGCTTCACTA 0.542 3 23 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 114326869 114326869 + Missense_Mutation SNP G T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr8:114326869G>T uc003ynu.2 - 2 491 c.332C>A c.(331-333)GCT>GAT p.A111D CSMD3_uc003ynt.2_Missense_Mutation_p.A71D|CSMD3_uc011lhx.1_Missense_Mutation_p.A111D|CSMD3_uc010mcx.1_Missense_Mutation_p.A111D|CSMD3_uc003ynx.3_Missense_Mutation_p.A111D NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 111 Extracellular (Potential).|CUB 1. 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 TTCTTCTAGAGCAAATGACTG 0.368 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 5 186 --- --- --- --- PASS KCNV2 169522 broad.mit.edu 37 9 2717996 2717996 + Missense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr9:2717996C>A uc003zho.1 + 1 471 c.257C>A c.(256-258)CCC>CAC p.P86H NM_133497 NP_598004 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 86 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(50;0.0257) ACCGCCAAGCCCGAGGGCCCC 0.657 14 28 --- --- --- --- PASS PTPRD 5789 broad.mit.edu 37 9 8633316 8633316 + Splice_Site SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr9:8633316C>T uc003zkk.2 - 13 1063 c.352_splice c.e13+1 p.E118_splice PTPRD_uc003zkp.2_Splice_Site_p.E118_splice|PTPRD_uc003zkq.2_Splice_Site_p.E118_splice|PTPRD_uc003zkr.2_Splice_Site_p.E118_splice|PTPRD_uc003zks.2_Splice_Site_p.E118_splice|PTPRD_uc003zkl.2_Splice_Site_p.E118_splice|PTPRD_uc003zkm.2_Splice_Site_p.E118_splice|PTPRD_uc003zkn.2_Splice_Site_p.E118_splice|PTPRD_uc003zko.2_Splice_Site_p.E118_splice|PTPRD_uc003zkt.1_Splice_Site_p.E118_splice NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TGAGCACTTACCCCGCAAAAC 0.423 TSP Lung(15;0.13) 28 219 --- --- --- --- PASS ALG2 85365 broad.mit.edu 37 9 101981079 101981079 + Missense_Mutation SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr9:101981079G>A uc004azf.2 - 2 458 c.388C>T c.(388-390)CGG>TGG p.R130W ALG2_uc004azg.2_Missense_Mutation_p.R37W NM_033087 NP_149078 Q9H553 ALG2_HUMAN alpha-1,3-mannosyltransferase ALG2 130 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.0559) ATCTTCTTCCGCCGTCTAGCC 0.448 10 95 --- --- --- --- PASS TAL2 6887 broad.mit.edu 37 9 108425025 108425025 + Missense_Mutation SNP A C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr9:108425025A>C uc004bct.2 + 1 288 c.248A>C c.(247-249)CAC>CCC p.H83P NM_005421 NP_005412 Q16559 TAL2_HUMAN T-cell acute lymphocytic leukemia 2 83 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 CAAGGACCCCACCTGCCAGGC 0.552 T TRB@ T-ALL 9 78 --- --- --- --- PASS GTPBP4 23560 broad.mit.edu 37 10 1043190 1043190 + Missense_Mutation SNP C T T rs149028639 TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr10:1043190C>T uc001ift.2 + 5 574 c.503C>T c.(502-504)ACC>ATC p.T168I GTPBP4_uc010qac.1_5'UTR|GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Missense_Mutation_p.T52I|GTPBP4_uc010qae.1_Missense_Mutation_p.T121I NM_012341 NP_036473 Q9BZE4 NOG1_HUMAN G protein-binding protein CRFG 168 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding ovary(1)|skin(1) 2 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) GATCCGAATACCAGGACCCTG 0.373 21 448 --- --- --- --- PASS KIF5B 3799 broad.mit.edu 37 10 32322782 32322782 + Silent SNP A C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr10:32322782A>C uc001iwe.3 - 12 1766 c.1296T>G c.(1294-1296)CTT>CTG p.L432L NM_004521 NP_004512 P33176 KINH_HUMAN kinesin family member 5B 432 stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(4) lung(4)|ovary(1) 5 Prostate(175;0.0137) CCTTGTCATCAAGCTGTTTGT 0.338 9 107 --- --- --- --- PASS PGBD3 267004 broad.mit.edu 37 10 50723759 50723759 + Missense_Mutation SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr10:50723759C>T uc001jht.2 - 2 1657 c.1402G>A c.(1402-1404)GAA>AAA p.E468K ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Missense_Mutation_p.E936K|PGBD3_uc001jhu.2_Missense_Mutation_p.E936K NM_170753 NP_736609 Q8N328 PGBD3_HUMAN hypothetical protein LOC267004 468 pancreas(1)|breast(1)|skin(1) 3 TCAATGTTTTCATCAGCTCTG 0.408 33 429 --- --- --- --- PASS EXOC6 54536 broad.mit.edu 37 10 94659401 94659401 + Missense_Mutation SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr10:94659401G>A uc001kig.2 + 5 524 c.458G>A c.(457-459)AGG>AAG p.R153K EXOC6_uc010qnr.1_Missense_Mutation_p.R169K|EXOC6_uc001kie.2_Missense_Mutation_p.R148K|EXOC6_uc001kif.3_Missense_Mutation_p.R153K|EXOC6_uc009xub.2_Missense_Mutation_p.R153K|EXOC6_uc009xuc.2_Missense_Mutation_p.R153K NM_019053 NP_061926 Q8TAG9 EXOC6_HUMAN SEC15-like 1 isoform a 153 protein transport|vesicle docking involved in exocytosis exocyst skin(1) 1 Colorectal(252;0.123) AGTGCCAAAAGGTGAGTTGGT 0.269 3 118 --- --- --- --- PASS AS3MT 57412 broad.mit.edu 37 10 104632929 104632929 + Missense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr10:104632929C>A uc001kwk.2 + 5 537 c.397C>A c.(397-399)CAT>AAT p.H133N AS3MT_uc001kwj.2_Missense_Mutation_p.H135N|AS3MT_uc009xxh.2_Missense_Mutation_p.H133N NM_020682 NP_065733 Q9HBK9 AS3MT_HUMAN arsenic (+3 oxidation state) methyltransferase 133 arsonoacetate metabolic process|toxin metabolic process cytosol arsenite methyltransferase activity|methylarsonite methyltransferase activity 0 Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223) GACTTTTATTCATGGCTACAT 0.363 4 112 --- --- --- --- PASS HSPA12A 259217 broad.mit.edu 37 10 118434726 118434726 + Missense_Mutation SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr10:118434726G>A uc001lct.2 - 12 1699 c.1594C>T c.(1594-1596)CGG>TGG p.R532W HSPA12A_uc001lcu.2_Missense_Mutation_p.R449W NM_025015 NP_079291 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 532 ATP binding ovary(1) 1 all cancers(201;0.0158) AGCGGCGACCGGCGCACCTTG 0.662 3 50 --- --- --- --- PASS MKI67 4288 broad.mit.edu 37 10 129901609 129901609 + Missense_Mutation SNP T G G TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr10:129901609T>G uc001lke.2 - 13 8690 c.8495A>C c.(8494-8496)GAA>GCA p.E2832A MKI67_uc001lkf.2_Missense_Mutation_p.E2472A|MKI67_uc009yav.1_Missense_Mutation_p.E2407A|MKI67_uc009yaw.1_Missense_Mutation_p.E1982A NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2832 16 X 122 AA approximate repeats.|16. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TGCGGTGTCTTCTAGTTCTGG 0.488 31 265 --- --- --- --- PASS CDHR5 53841 broad.mit.edu 37 11 618689 618689 + Nonsense_Mutation SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr11:618689G>A uc001lqj.2 - 13 1975 c.1870C>T c.(1870-1872)CAA>TAA p.Q624* IRF7_uc001lqg.2_5'Flank|IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Intron|CDHR5_uc009ycc.2_Nonsense_Mutation_p.Q458*|CDHR5_uc009ycd.2_Nonsense_Mutation_p.Q618*|CDHR5_uc001lql.2_Nonsense_Mutation_p.Q624* NM_021924 NP_068743 Q9HBB8 CDHR5_HUMAN mucin and cadherin-like isoform 1 624 4 X 31 AA approximate tandem repeats.|3.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 GTGGTTGGTTGGTGGGAGGTG 0.657 9 128 --- --- --- --- PASS KRTAP5-6 440023 broad.mit.edu 37 11 1718724 1718724 + Nonsense_Mutation SNP T A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr11:1718724T>A uc001lua.2 + 1 300 c.249T>A c.(247-249)TGT>TGA p.C83* NM_001012416 NP_001012416 Q6L8G9 KRA56_HUMAN keratin associated protein 5-6 83 6 X 4 AA repeats of C-C-X-P. keratin filament 0 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GTGGCTCTTGTGGCTGCTCCC 0.642 13 89 --- --- --- --- PASS UBQLNL 143630 broad.mit.edu 37 11 5537287 5537287 + Missense_Mutation SNP T C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr11:5537287T>C uc001maz.3 - 1 670 c.385A>G c.(385-387)AAA>GAA p.K129E HBG2_uc001mak.1_Intron NM_145053 NP_659490 Q8IYU4 UBQLN_HUMAN ubiquilin-like 129 large_intestine(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) CTGTTTCCTTTGGTGTTTCTG 0.537 21 148 --- --- --- --- PASS OR52N1 79473 broad.mit.edu 37 11 5809595 5809595 + Missense_Mutation SNP A C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr11:5809595A>C uc010qzo.1 - 1 452 c.452T>G c.(451-453)TTT>TGT p.F151C TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001001913 NP_001001913 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, 151 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) ACCCCTAAGAAAAGTGAGGAA 0.517 24 103 --- --- --- --- PASS SYT7 9066 broad.mit.edu 37 11 61295405 61295405 + Missense_Mutation SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr11:61295405C>T uc001nrv.2 - 5 610 c.604G>A c.(604-606)GAG>AAG p.E202K SYT7_uc009ynr.2_Missense_Mutation_p.E277K NM_004200 NP_004191 O43581 SYT7_HUMAN synaptotagmin VII 202 C2 1.|Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity ovary(3)|pancreas(1) 4 AGGAAGGTCTCGTTCCAGTGG 0.567 16 161 --- --- --- --- PASS PYGM 5837 broad.mit.edu 37 11 64525759 64525759 + Nonsense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr11:64525759C>A uc001oax.3 - 4 1304 c.487G>T c.(487-489)GAG>TAG p.E163* PYGM_uc001oay.3_Intron NM_005609 NP_005600 P11217 PYGM_HUMAN muscle glycogen phosphorylase isoform 1 163 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding ovary(2) 2 Pyridoxal Phosphate(DB00114) ATCCCAAACTCATAGCGAATC 0.592 8 172 --- --- --- --- PASS ANO1 55107 broad.mit.edu 37 11 70007820 70007820 + Missense_Mutation SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr11:70007820G>A uc001opj.2 + 18 2178 c.1873G>A c.(1873-1875)GTG>ATG p.V625M ANO1_uc001opk.1_Missense_Mutation_p.V567M|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.V334M NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 625 Helical; (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 CATCTTTTACGTGGCGTTCTT 0.552 8 408 --- --- --- --- PASS ATG16L2 89849 broad.mit.edu 37 11 72528819 72528819 + Missense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr11:72528819C>A uc001otd.2 + 3 277 c.237C>A c.(235-237)GAC>GAA p.D79E ATG16L2_uc001otc.1_Missense_Mutation_p.D79E|ATG16L2_uc010rrf.1_Missense_Mutation_p.D79E|ATG16L2_uc001ote.2_5'UTR|ATG16L2_uc009ytj.1_Missense_Mutation_p.D79E NM_033388 NP_203746 Q8NAA4 A16L2_HUMAN ATG16 autophagy related 16-like 2 79 autophagy|protein transport cytoplasm protein binding 0 BRCA - Breast invasive adenocarcinoma(5;2.73e-06) CAGAGCTTGACTCAGACCAAG 0.577 3 50 --- --- --- --- PASS PICALM 8301 broad.mit.edu 37 11 85692224 85692224 + Missense_Mutation SNP G T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr11:85692224G>T uc001pbm.2 - 17 2013 c.1727C>A c.(1726-1728)TCT>TAT p.S576Y PICALM_uc001pbl.2_Missense_Mutation_p.S526Y|PICALM_uc001pbn.2_Missense_Mutation_p.S569Y|PICALM_uc010rtl.1_Missense_Mutation_p.S475Y|PICALM_uc001pbk.2_RNA|PICALM_uc010rtk.1_Missense_Mutation_p.S153Y|PICALM_uc001pbo.1_Missense_Mutation_p.S208Y NM_007166 NP_009097 Q13492 PICAL_HUMAN phosphatidylinositol-binding clathrin assembly 576 clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding urinary_tract(1)|ovary(1) 2 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) TTGCCAGTTAGATCCCCCAGT 0.353 T MLLT10|MLL TALL|AML| 7 203 --- --- --- --- PASS MTNR1B 4544 broad.mit.edu 37 11 92714914 92714914 + Missense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr11:92714914C>A uc001pdk.1 + 2 628 c.525C>A c.(523-525)AAC>AAA p.N175K NM_005959 NP_005950 P49286 MTR1B_HUMAN melatonin receptor 1B 175 Helical; Name=4; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) TGCTGCCCAACTTCTTTGTGG 0.612 4 89 --- --- --- --- PASS CACNA1C 775 broad.mit.edu 37 12 2778165 2778165 + Missense_Mutation SNP G T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr12:2778165G>T uc009zdu.1 + 40 5147 c.4834G>T c.(4834-4836)GCC>TCC p.A1612S CACNA1C_uc009zdv.1_Missense_Mutation_p.A1561S|CACNA1C_uc001qkb.2_Missense_Mutation_p.A1564S|CACNA1C_uc001qkc.2_Missense_Mutation_p.A1564S|CACNA1C_uc001qke.2_Missense_Mutation_p.A1553S|CACNA1C_uc001qkf.2_Missense_Mutation_p.A1553S|CACNA1C_uc001qjz.2_Missense_Mutation_p.A1564S|CACNA1C_uc001qkd.2_Missense_Mutation_p.A1564S|CACNA1C_uc001qkg.2_Missense_Mutation_p.A1551S|CACNA1C_uc009zdw.1_Missense_Mutation_p.A1586S|CACNA1C_uc001qkh.2_Missense_Mutation_p.A1553S|CACNA1C_uc001qkl.2_Missense_Mutation_p.A1612S|CACNA1C_uc001qkn.2_Missense_Mutation_p.A1564S|CACNA1C_uc001qko.2_Missense_Mutation_p.A1584S|CACNA1C_uc001qkp.2_Missense_Mutation_p.A1564S|CACNA1C_uc001qkr.2_Missense_Mutation_p.A1581S|CACNA1C_uc001qku.2_Missense_Mutation_p.A1564S|CACNA1C_uc001qkq.2_Missense_Mutation_p.A1592S|CACNA1C_uc001qks.2_Missense_Mutation_p.A1564S|CACNA1C_uc001qkt.2_Missense_Mutation_p.A1564S|CACNA1C_uc001qki.1_Missense_Mutation_p.A1300S|CACNA1C_uc001qkj.1_Missense_Mutation_p.A1300S|CACNA1C_uc001qkk.1_Missense_Mutation_p.A1300S|CACNA1C_uc001qkm.1_Missense_Mutation_p.A1289S|CACNA1C_uc010sea.1_Missense_Mutation_p.A255S NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1612 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CACCCTGTTTGCCCTGGTCAG 0.562 9 113 --- --- --- --- PASS KRT5 3852 broad.mit.edu 37 12 52913973 52913973 + Silent SNP G C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr12:52913973G>C uc001san.2 - 1 271 c.108C>G c.(106-108)TCC>TCG p.S36S KRT5_uc009zmh.2_Silent_p.S36S NM_000424 NP_000415 P13647 K2C5_HUMAN keratin 5 36 Head. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton 0 BRCA - Breast invasive adenocarcinoma(357;0.189) CCCCGGACCGGGACACGGAGG 0.677 4 48 --- --- --- --- PASS VEZT 55591 broad.mit.edu 37 12 95645743 95645743 + Missense_Mutation SNP G T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr12:95645743G>T uc001tdz.2 + 2 169 c.64G>T c.(64-66)GAT>TAT p.D22Y VEZT_uc009zsy.1_5'UTR|VEZT_uc001tdr.2_5'UTR|VEZT_uc001tds.2_5'UTR|VEZT_uc001tdt.2_5'UTR|VEZT_uc009zsz.1_Missense_Mutation_p.D22Y|VEZT_uc001tdv.2_5'UTR|VEZT_uc001tdw.1_5'UTR|VEZT_uc009zta.1_5'UTR NM_017599 NP_060069 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane 22 acrosomal vesicle|adherens junction|integral to membrane|nucleus ovary(1) 1 ATACTTACAGGATCTGGGACA 0.368 5 164 --- --- --- --- PASS UHRF1BP1L 23074 broad.mit.edu 37 12 100452092 100452092 + Missense_Mutation SNP C G G TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr12:100452092C>G uc001tgq.2 - 14 3192 c.2963G>C c.(2962-2964)GGC>GCC p.G988A UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.G638A NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 988 ovary(2) 2 TTCTCCTGAGCCACTTTTGTA 0.308 22 186 --- --- --- --- PASS ATP6V0A2 23545 broad.mit.edu 37 12 124209287 124209287 + Missense_Mutation SNP G T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr12:124209287G>T uc001ufr.2 + 4 629 c.381G>T c.(379-381)GAG>GAT p.E127D ATP6V0A2_uc001ufq.1_Missense_Mutation_p.E127D NM_012463 NP_036595 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 127 Cytoplasmic (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) AACTGATAGAGTACACTCACA 0.408 47 268 --- --- --- --- PASS GLT1D1 144423 broad.mit.edu 37 12 129360565 129360565 + Missense_Mutation SNP G T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr12:129360565G>T uc010tbh.1 + 2 151 c.142G>T c.(142-144)GCC>TCC p.A48S GLT1D1_uc001uhx.1_Missense_Mutation_p.A59S|GLT1D1_uc001uhy.1_RNA NM_144669 NP_653270 Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 59 biosynthetic process extracellular region transferase activity, transferring glycosyl groups 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) CTGCGAGGCTGCCCTGGCTCT 0.473 70 312 --- --- --- --- PASS NBEA 26960 broad.mit.edu 37 13 35864575 35864575 + Silent SNP G T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr13:35864575G>T uc001uvb.2 + 35 6032 c.5826G>T c.(5824-5826)CTG>CTT p.L1942L NBEA_uc010abi.2_Silent_p.L598L NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 1942 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TTGTTATGCTGCTTTGTTCTC 0.323 41 291 --- --- --- --- PASS ZC3H13 23091 broad.mit.edu 37 13 46559779 46559779 + Missense_Mutation SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr13:46559779C>T uc010tfw.1 - 9 1379 c.1373G>A c.(1372-1374)CGG>CAG p.R458Q ZC3H13_uc001vas.1_Missense_Mutation_p.R458Q|ZC3H13_uc001vat.1_Missense_Mutation_p.R458Q NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 458 Arg/Ser-rich. nucleic acid binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) GGCATCTCTCCGATCCCGACC 0.483 29 377 --- --- --- --- PASS KPNA3 3839 broad.mit.edu 37 13 50306891 50306891 + Missense_Mutation SNP T C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr13:50306891T>C uc001vdj.2 - 4 641 c.226A>G c.(226-228)ATA>GTA p.I76V NM_002267 NP_002258 O00505 IMA3_HUMAN karyopherin alpha 3 76 ARM 1; truncated. interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly cytoplasm|nuclear pore nuclear localization sequence binding|protein transporter activity 0 Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.42e-09) ACCTGCAATATAGCTTCTAGG 0.244 10 80 --- --- --- --- PASS PCDH17 27253 broad.mit.edu 37 13 58208468 58208468 + Missense_Mutation SNP G T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr13:58208468G>T uc001vhq.1 + 1 2680 c.1788G>T c.(1786-1788)CAG>CAT p.Q596H PCDH17_uc010aec.1_Missense_Mutation_p.Q596H NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 596 Extracellular (Potential).|Cadherin 6. 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) CGGAGCTGCAGGTGCCGCGCA 0.647 15 48 --- --- --- --- PASS KLHL1 57626 broad.mit.edu 37 13 70514196 70514196 + Missense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr13:70514196C>A uc001vip.2 - 4 1784 c.990G>T c.(988-990)ATG>ATT p.M330I KLHL1_uc010thm.1_Missense_Mutation_p.M269I NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 330 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GGGCCACCTTCATTAACTCAA 0.413 6 92 --- --- --- --- PASS MYCBP2 23077 broad.mit.edu 37 13 77760189 77760189 + Missense_Mutation SNP C G G TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr13:77760189C>G uc001vkf.2 - 32 4238 c.4147G>C c.(4147-4149)GAG>CAG p.E1383Q MYCBP2_uc010aev.2_Missense_Mutation_p.E787Q NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 1383 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AACAATGACTCAAAACATTCC 0.363 8 93 --- --- --- --- PASS COL4A1 1282 broad.mit.edu 37 13 110864803 110864803 + Silent SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr13:110864803C>T uc001vqw.3 - 6 470 c.348G>A c.(346-348)CCG>CCA p.P116P COL4A1_uc010agl.2_Silent_p.P116P NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 116 angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GGGGGCCTGGCGGGCCGTCTT 0.453 42 361 --- --- --- --- PASS COL4A2 1284 broad.mit.edu 37 13 111138086 111138086 + Missense_Mutation SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr13:111138086G>A uc001vqx.2 + 34 3399 c.3110G>A c.(3109-3111)GGA>GAA p.G1037E NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 1037 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GGAGTCAAGGGAGACATCGGA 0.627 10 130 --- --- --- --- PASS SSTR1 6751 broad.mit.edu 37 14 38679090 38679090 + Missense_Mutation SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr14:38679090G>A uc001wul.1 + 3 1113 c.496G>A c.(496-498)GCC>ACC p.A166T SSTR1_uc010amu.1_Intron NM_001049 NP_001040 P30872 SSR1_HUMAN somatostatin receptor 1 166 Cytoplasmic (Potential). digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity central_nervous_system(3)|ovary(1)|lung(1) 5 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) CATCAAGGCGGCCCGCTACCG 0.637 14 73 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64593522 64593522 + Nonsense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr14:64593522C>A uc001xgm.2 + 73 14144 c.13914C>A c.(13912-13914)TAC>TAA p.Y4638* SYNE2_uc001xgl.2_Nonsense_Mutation_p.Y4638*|SYNE2_uc010apy.2_Nonsense_Mutation_p.Y1023*|SYNE2_uc010apz.1_Nonsense_Mutation_p.Y530* NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4638 Potential.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ACCGCAGTTACCAGGTATGAT 0.458 6 97 --- --- --- --- PASS PCNX 22990 broad.mit.edu 37 14 71555129 71555129 + Missense_Mutation SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr14:71555129C>T uc001xmo.2 + 29 5866 c.5420C>T c.(5419-5421)GCA>GTA p.A1807V PCNX_uc010are.1_Missense_Mutation_p.A1696V|PCNX_uc010arf.1_Missense_Mutation_p.A595V NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 1807 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) TTGGGGACTGCATCCCATCAT 0.423 4 106 --- --- --- --- PASS C14orf145 145508 broad.mit.edu 37 14 81380730 81380730 + Missense_Mutation SNP T A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr14:81380730T>A uc001xux.2 - 3 341 c.170A>T c.(169-171)CAA>CTA p.Q57L C14orf145_uc001xuz.2_Missense_Mutation_p.Q57L|C14orf145_uc001xva.1_Missense_Mutation_p.Q57L|C14orf145_uc010ata.1_Missense_Mutation_p.Q57L NM_152446 NP_689659 Q6ZU80 CE128_HUMAN hypothetical protein LOC145508 57 centriole|spindle pole 0 BRCA - Breast invasive adenocarcinoma(234;0.0586) CTGGTCCACTTGTCGCAGGTT 0.393 17 173 --- --- --- --- PASS TECPR2 9895 broad.mit.edu 37 14 102916045 102916045 + Missense_Mutation SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr14:102916045C>T uc001ylw.1 + 14 3303 c.3155C>T c.(3154-3156)ACA>ATA p.T1052I TECPR2_uc010awl.2_Missense_Mutation_p.T1052I|TECPR2_uc010txx.1_Missense_Mutation_p.T215I NM_014844 NP_055659 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 1052 protein binding lung(1)|central_nervous_system(1)|skin(1) 3 TCGGTGGCCACAGCAGCCCAA 0.547 10 153 --- --- --- --- PASS TECPR2 9895 broad.mit.edu 37 14 102916046 102916046 + Silent SNP A T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr14:102916046A>T uc001ylw.1 + 14 3304 c.3156A>T c.(3154-3156)ACA>ACT p.T1052T TECPR2_uc010awl.2_Silent_p.T1052T|TECPR2_uc010txx.1_Silent_p.T215T NM_014844 NP_055659 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 1052 protein binding lung(1)|central_nervous_system(1)|skin(1) 3 CGGTGGCCACAGCAGCCCAAG 0.547 10 148 --- --- --- --- PASS BAG5 9529 broad.mit.edu 37 14 104026793 104026793 + Nonsense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr14:104026793C>A uc001yni.1 - 2 943 c.709G>T c.(709-711)GAA>TAA p.E237* KLC1_uc010tyd.1_5'Flank|BAG5_uc001ynh.1_Nonsense_Mutation_p.E278*|BAG5_uc001ynj.1_Nonsense_Mutation_p.E237*|C14orf153_uc001ynl.3_5'Flank|C14orf153_uc010tyc.1_5'Flank NM_004873 NP_004864 Q9UL15 BAG5_HUMAN BCL2-associated athanogene 5 isoform b 237 BAG 3. apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly inclusion body|perinuclear region of cytoplasm chaperone binding|ubiquitin protein ligase binding ovary(2) 2 Melanoma(154;0.155) Epithelial(46;0.144) TTTCTGATTTCTGTCCGGCCG 0.458 13 196 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105415980 105415980 + Silent SNP T C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr14:105415980T>C uc010axc.1 - 7 5928 c.5808A>G c.(5806-5808)AAA>AAG p.K1936K AHNAK2_uc001ypx.2_Silent_p.K1836K NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1936 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCTTGGGGCCTTTCAGGTCCA 0.607 18 373 --- --- --- --- PASS ATP10A 57194 broad.mit.edu 37 15 25953150 25953150 + Missense_Mutation SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr15:25953150G>A uc010ayu.2 - 12 2654 c.2548C>T c.(2548-2550)CGC>TGC p.R850C NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 850 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GTCTCCAGGCGAATGGCAGAC 0.542 16 56 --- --- --- --- PASS GABRA5 2558 broad.mit.edu 37 15 27126086 27126086 + Nonsense_Mutation SNP C G G TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr15:27126086C>G uc001zbd.1 + 5 519 c.180C>G c.(178-180)TAC>TAG p.Y60* GABRB3_uc001zbb.2_Intron NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 60 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGGATGGCTACGACAACAGAC 0.502 3 90 --- --- --- --- PASS ZNF263 10127 broad.mit.edu 37 16 3340467 3340467 + Missense_Mutation SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr16:3340467C>T uc002cuq.2 + 6 2293 c.1961C>T c.(1960-1962)ACG>ATG p.T654M ZNF263_uc010uww.1_Missense_Mutation_p.T302M|ZNF263_uc002cur.2_Missense_Mutation_p.T302M NM_005741 NP_005732 O14978 ZN263_HUMAN zinc finger protein 263 654 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(3)|ovary(1) 4 AGAACGCATACGGGAGAGAGA 0.488 33 224 --- --- --- --- PASS ARHGAP17 55114 broad.mit.edu 37 16 24971010 24971010 + Missense_Mutation SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr16:24971010C>T uc002dnb.2 - 9 799 c.706G>A c.(706-708)GAA>AAA p.E236K ARHGAP17_uc002dna.2_5'Flank|ARHGAP17_uc002dnc.2_Missense_Mutation_p.E236K|ARHGAP17_uc010vcf.1_Missense_Mutation_p.E57K|ARHGAP17_uc002dnf.2_Missense_Mutation_p.E144K|ARHGAP17_uc002dng.1_Intron NM_001006634 NP_001006635 Q68EM7 RHG17_HUMAN nadrin isoform 1 236 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding 0 GBM - Glioblastoma multiforme(48;0.0407) GCTCGCATTTCGGGGAGGGTC 0.483 7 127 --- --- --- --- PASS IL4R 3566 broad.mit.edu 37 16 27374493 27374493 + Nonsense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr16:27374493C>A uc002don.2 + 11 2062 c.1820C>A c.(1819-1821)TCA>TAA p.S607* IL4R_uc002dop.3_Nonsense_Mutation_p.S592*|IL4R_uc010bxy.2_Nonsense_Mutation_p.S607*|IL4R_uc002doo.2_Nonsense_Mutation_p.S447* NM_000418 NP_000409 P24394 IL4RA_HUMAN interleukin 4 receptor alpha chain isoform a 607 Required for IL4-induced gene expression.|Cytoplasmic (Potential). immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity ovary(1)|skin(1) 2 AAGGCCTTCTCAAGCCTGCTT 0.597 4 101 --- --- --- --- PASS ATXN2L 11273 broad.mit.edu 37 16 28841947 28841947 + Missense_Mutation SNP A G G TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr16:28841947A>G uc002drc.2 + 9 1214 c.1046A>G c.(1045-1047)TAT>TGT p.Y349C uc010vct.1_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.Y349C|ATXN2L_uc002drb.2_Missense_Mutation_p.Y349C|ATXN2L_uc002dqy.2_Missense_Mutation_p.Y349C|ATXN2L_uc002dra.2_Missense_Mutation_p.Y349C|ATXN2L_uc002dqz.2_Missense_Mutation_p.Y349C|ATXN2L_uc010vdb.1_Missense_Mutation_p.Y349C|ATXN2L_uc002dre.2_Missense_Mutation_p.Y349C|ATXN2L_uc002drf.2_5'UTR NM_007245 NP_009176 Q8WWM7 ATX2L_HUMAN ataxin 2 related protein isoform A 349 membrane upper_aerodigestive_tract(1)|ovary(1) 2 GAGGGGAAGTATATCCCTCTG 0.552 10 62 --- --- --- --- PASS SRCAP 10847 broad.mit.edu 37 16 30749733 30749733 + Missense_Mutation SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr16:30749733C>T uc002dze.1 + 34 8757 c.8372C>T c.(8371-8373)CCG>CTG p.P2791L SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.P2586L NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 2791 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) CCGGGAAGCCCGTCTGTCCGC 0.662 7 123 --- --- --- --- PASS VPS4A 27183 broad.mit.edu 37 16 69350244 69350244 + Missense_Mutation SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr16:69350244C>T uc002eww.2 + 3 378 c.250C>T c.(250-252)CCA>TCA p.P84S NM_013245 NP_037377 Q9UN37 VPS4A_HUMAN vacuolar protein sorting factor 4A 84 Interaction with CHMP1B. cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding 0 Ovarian(137;0.101) CGGCAAGAAGCCAGTCAAAGA 0.572 4 128 --- --- --- --- PASS NFAT5 10725 broad.mit.edu 37 16 69727791 69727791 + Nonsense_Mutation SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr16:69727791C>T uc002exm.1 + 12 5217 c.4009C>T c.(4009-4011)CAG>TAG p.Q1337* NFAT5_uc002exi.2_Nonsense_Mutation_p.Q1261*|NFAT5_uc002exj.1_Nonsense_Mutation_p.Q1261*|NFAT5_uc002exk.1_Nonsense_Mutation_p.Q1261*|NFAT5_uc002exl.1_Nonsense_Mutation_p.Q1355*|NFAT5_uc002exn.1_Nonsense_Mutation_p.Q1354*|NFAT5_uc002exo.1_RNA NM_006599 NP_006590 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5 isoform c 1337 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 TTCCTCACTTCAGAACCCAGG 0.473 15 185 --- --- --- --- PASS GALNS 2588 broad.mit.edu 37 16 88898492 88898492 + Missense_Mutation SNP A T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr16:88898492A>T uc002fly.3 - 9 1005 c.916T>A c.(916-918)TTT>ATT p.F306I GALNS_uc010cid.2_Missense_Mutation_p.F312I|GALNS_uc002flz.3_5'UTR NM_000512 NP_000503 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfate sulfatase 306 lysosome metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity large_intestine(2) 2 BRCA - Breast invasive adenocarcinoma(80;0.0496) Hyaluronidase(DB00070) CCACACAGAAAGGGGCCGTTG 0.657 5 31 --- --- --- --- PASS SENP3 26168 broad.mit.edu 37 17 7468014 7468014 + Missense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr17:7468014C>A uc002ghm.2 + 3 1061 c.788C>A c.(787-789)CCC>CAC p.P263H EIF4A1_uc002gho.1_5'Flank|SENP3_uc002ghn.1_Missense_Mutation_p.P98H NM_015670 NP_056485 Q9H4L4 SENP3_HUMAN SUMO1/sentrin/SMT3 specific protease 3 263 proteolysis MLL1 complex|nucleolus cysteine-type peptidase activity ovary(1)|central_nervous_system(1) 2 Prostate(122;0.157) AGCTTGGCACCCCCTGATGCC 0.577 4 93 --- --- --- --- PASS TOP3A 7156 broad.mit.edu 37 17 18188474 18188474 + Missense_Mutation SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr17:18188474G>A uc002gsx.1 - 15 2088 c.1859C>T c.(1858-1860)GCG>GTG p.A620V TOP3A_uc010cpz.1_Missense_Mutation_p.A72V|TOP3A_uc010vxr.1_Missense_Mutation_p.A150V|TOP3A_uc002gsw.1_Missense_Mutation_p.A72V|TOP3A_uc010vxs.1_Missense_Mutation_p.A518V NM_004618 NP_004609 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 620 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding skin(3) 3 TTTAGCCACCGCTTCAATGAA 0.279 49 319 --- --- --- --- PASS SRCIN1 80725 broad.mit.edu 37 17 36705423 36705423 + Missense_Mutation SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr17:36705423G>A uc002hqd.2 - 16 3211 c.2986C>T c.(2986-2988)CGC>TGC p.R996C SRCIN1_uc002hqf.1_Missense_Mutation_p.R868C|SRCIN1_uc002hqe.2_Missense_Mutation_p.R850C NM_025248 NP_079524 Q9C0H9 SRCN1_HUMAN SNAP25-interacting protein 868 Pro-rich. exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding 0 TTCTCTGTGCGGTATCGGGGC 0.642 8 34 --- --- --- --- PASS IKZF3 22806 broad.mit.edu 37 17 37949057 37949057 + Missense_Mutation SNP T C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr17:37949057T>C uc002hsu.2 - 4 355 c.293A>G c.(292-294)AAC>AGC p.N98S IKZF3_uc002htd.2_Missense_Mutation_p.N64S|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Missense_Mutation_p.N64S|IKZF3_uc010cwe.2_Missense_Mutation_p.N98S|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Missense_Mutation_p.N98S|IKZF3_uc002hsx.2_Missense_Mutation_p.N98S|IKZF3_uc002hsy.2_Missense_Mutation_p.N98S|IKZF3_uc002hsz.2_Missense_Mutation_p.N98S|IKZF3_uc002hta.2_Missense_Mutation_p.N98S|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Intron|IKZF3_uc002htc.2_5'UTR NM_012481 NP_036613 Q9UKT9 IKZF3_HUMAN aiolos isoform 1 98 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(2)|kidney(2)|skin(2) 6 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CAACTTAATGTTTTCATATTC 0.393 13 220 --- --- --- --- PASS KRTAP9-8 83901 broad.mit.edu 37 17 39394356 39394356 + Missense_Mutation SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr17:39394356G>A uc002hwh.3 + 1 87 c.53G>A c.(52-54)TGC>TAC p.C18Y KRTAP9-9_uc010wfq.1_Intron NM_031963 NP_114169 Q9BYQ0 KRA98_HUMAN keratin associated protein 9.8 18 15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI]. keratin filament ovary(1) 1 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) AGGACCACCTGCTGGAAGCCC 0.617 7 113 --- --- --- --- PASS EME1 146956 broad.mit.edu 37 17 48453533 48453533 + Missense_Mutation SNP G T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr17:48453533G>T uc002iqs.1 + 3 955 c.882G>T c.(880-882)AGG>AGT p.R294S MRPL27_uc002iqq.2_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc010dbp.1_Missense_Mutation_p.R294S NM_152463 NP_689676 Q96AY2 EME1_HUMAN essential meiotic endonuclease 1 homolog 1 294 DNA recombination|DNA repair nucleolus DNA binding|endonuclease activity|metal ion binding|protein binding 0 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) TCACTTGGAGGAGAAGGGCTG 0.522 Direct_reversal_of_damage|Homologous_recombination 10 137 --- --- --- --- PASS TOM1L1 10040 broad.mit.edu 37 17 52978259 52978259 + Nonsense_Mutation SNP C G G TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr17:52978259C>G uc002iud.2 + 1 208 c.33C>G c.(31-33)TAC>TAG p.Y11* TOM1L1_uc002iub.2_5'UTR|TOM1L1_uc002iuc.2_Nonsense_Mutation_p.Y11*|TOM1L1_uc010dca.1_Nonsense_Mutation_p.Y11*|TOM1L1_uc010wnb.1_Nonsense_Mutation_p.Y11*|TOM1L1_uc010wnc.1_5'UTR|TOM1L1_uc010dbz.2_5'UTR|TOM1L1_uc010wnd.1_5'UTR NM_005486 NP_005477 O75674 TM1L1_HUMAN target of myb1-like 1 11 intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway cytosol|endosome membrane|Golgi stack|lysosome SH3 domain binding|ubiquitin binding ovary(1) 1 GGGATCCCTACGCGACCTCCG 0.672 7 128 --- --- --- --- PASS TEX2 55852 broad.mit.edu 37 17 62291306 62291306 + Missense_Mutation SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr17:62291306G>A uc002jec.2 - 2 445 c.272C>T c.(271-273)TCG>TTG p.S91L TEX2_uc002jed.2_Missense_Mutation_p.S91L|TEX2_uc002jee.2_Missense_Mutation_p.S91L NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN testis expressed sequence 2 91 signal transduction|sphingolipid metabolic process integral to membrane ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) CAGGACAGGCGAGGCAGCAGG 0.592 26 275 --- --- --- --- PASS SLC16A6 9120 broad.mit.edu 37 17 66267716 66267716 + Silent SNP G T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr17:66267716G>T uc002jgz.1 - 5 773 c.585C>A c.(583-585)ATC>ATA p.I195I ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Silent_p.I195I NM_004694 NP_004685 O15403 MOT7_HUMAN solute carrier family 16, member 6 195 Helical; (Potential). integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity 0 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) GTGCTCCGAAGATGACAATGT 0.478 41 137 --- --- --- --- PASS SAP30BP 29115 broad.mit.edu 37 17 73698642 73698642 + Missense_Mutation SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr17:73698642G>A uc002jpe.2 + 6 533 c.479G>A c.(478-480)CGG>CAG p.R160Q SAP30BP_uc002jpc.1_RNA|SAP30BP_uc010wsf.1_RNA|SAP30BP_uc010wsg.1_RNA|SAP30BP_uc002jpf.2_Missense_Mutation_p.R144Q NM_013260 NP_037392 Q9UHR5 S30BP_HUMAN transcriptional regulator protein 160 apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding ovary(1) 1 all_cancers(13;6.42e-08) all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) AAAGAATTTCGGAACCCTAGG 0.433 10 99 --- --- --- --- PASS DUS1L 64118 broad.mit.edu 37 17 80019200 80019200 + Missense_Mutation SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr17:80019200C>T uc002kdq.2 - 7 1146 c.727G>A c.(727-729)GAG>AAG p.E243K DUS1L_uc002kdp.2_Missense_Mutation_p.E112K|DUS1L_uc002kdr.2_Missense_Mutation_p.E243K|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA|DUS1L_uc010wvi.1_Missense_Mutation_p.E226K NM_022156 NP_071439 Q6P1R4 DUS1L_HUMAN PP3111 protein 243 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity skin(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) CTCCGGCCCTCGAACAGGGCG 0.677 5 50 --- --- --- --- PASS RBBP8 5932 broad.mit.edu 37 18 20573509 20573509 + Silent SNP A G G TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr18:20573509A>G uc002ktw.2 + 11 2050 c.1719A>G c.(1717-1719)CCA>CCG p.P573P RBBP8_uc002kty.2_Silent_p.P573P|RBBP8_uc002ktz.2_Silent_p.P573P|RBBP8_uc002kua.2_Silent_p.P573P|RBBP8_uc010xap.1_5'Flank|RBBP8_uc002ktx.1_Silent_p.P573P NM_002894 NP_002885 Q99708 COM1_HUMAN retinoblastoma binding protein 8 isoform a 573 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity ovary(1)|lung(1)|skin(1) 3 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) ACAATAAACCATCATTACAAA 0.413 Direct_reversal_of_damage|Homologous_recombination 23 182 --- --- --- --- PASS NCAN 1463 broad.mit.edu 37 19 19329873 19329873 + Missense_Mutation SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr19:19329873C>T uc002nlz.2 + 3 322 c.223C>T c.(223-225)CGG>TGG p.R75W NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 75 Ig-like V-type. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) AGATGCCCCTCGGATAAAGTG 0.657 6 64 --- --- --- --- PASS NCAN 1463 broad.mit.edu 37 19 19339016 19339016 + Missense_Mutation SNP G T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr19:19339016G>T uc002nlz.2 + 8 2686 c.2587G>T c.(2587-2589)GTG>TTG p.V863L NCAN_uc010ecc.1_Missense_Mutation_p.V427L NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 863 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) GAGCCCTCAGGTGGCCCTGGA 0.587 12 180 --- --- --- --- PASS NPHS1 4868 broad.mit.edu 37 19 36335017 36335017 + Silent SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr19:36335017G>A uc002oby.2 - 16 2200 c.2200C>T c.(2200-2202)CTG>TTG p.L734L NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 734 Extracellular (Potential). cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGCACGTCCAGCCGCAGCCGC 0.652 10 38 --- --- --- --- PASS IRF3 3661 broad.mit.edu 37 19 50165456 50165456 + Missense_Mutation SNP G C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr19:50165456G>C uc010end.1 - 6 1113 c.731C>G c.(730-732)ACA>AGA p.T244R IRF3_uc002pos.1_5'Flank|IRF3_uc002pot.1_Intron|IRF3_uc002pox.1_Missense_Mutation_p.T244R|IRF3_uc002poy.1_Missense_Mutation_p.T244R|IRF3_uc002pou.2_Missense_Mutation_p.T244R|IRF3_uc002pov.2_Missense_Mutation_p.T98R|IRF3_uc002pow.2_Missense_Mutation_p.T244R|IRF3_uc002poz.1_Missense_Mutation_p.T244R|BCL2L12_uc002ppa.2_5'Flank|BCL2L12_uc002ppb.2_5'Flank NM_001571 NP_001562 Q14653 IRF3_HUMAN interferon regulatory factor 3 244 Involved in HERC5 binding. interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity ovary(2) 2 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;0.0011)|GBM - Glioblastoma multiforme(134;0.02) GTCTGGCAGTGTGACTGGCCA 0.672 6 73 --- --- --- --- PASS PRPF31 26121 broad.mit.edu 37 19 54627995 54627995 + Missense_Mutation SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr19:54627995G>A uc002qdh.2 + 8 1211 c.815G>A c.(814-816)GGC>GAC p.G272D PRPF31_uc010yek.1_Missense_Mutation_p.G272D NM_015629 NP_056444 Q8WWY3 PRP31_HUMAN pre-mRNA processing factor 31 homolog 272 Nop. assembly of spliceosomal tri-snRNP Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP RNA binding|snRNP binding ovary(1) 1 all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCCCACACCGGCTACATCTAC 0.662 3 46 --- --- --- --- PASS NLRP8 126205 broad.mit.edu 37 19 56481994 56481994 + Silent SNP A C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr19:56481994A>C uc002qmh.2 + 6 2537 c.2466A>C c.(2464-2466)ATA>ATC p.I822I NLRP8_uc010etg.2_Silent_p.I822I NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 822 LRR 2. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) AGACTCTCATACTAAGAAAAA 0.488 30 301 --- --- --- --- PASS SNPH 9751 broad.mit.edu 37 20 1285887 1285887 + Missense_Mutation SNP G C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr20:1285887G>C uc002wes.2 + 6 910 c.674G>C c.(673-675)GGT>GCT p.G225A SNPH_uc002wet.2_Missense_Mutation_p.G269A NM_014723 NP_055538 O15079 SNPH_HUMAN syntaphilin 225 synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding ovary(2) 2 GCTGTCTGTGGTGACCGCCAG 0.677 4 40 --- --- --- --- PASS SLC4A11 83959 broad.mit.edu 37 20 3209565 3209565 + Missense_Mutation SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr20:3209565G>A uc002wig.2 - 16 2207 c.2159C>T c.(2158-2160)GCC>GTC p.A720V SLC4A11_uc010zqe.1_Missense_Mutation_p.A747V|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.A704V NM_032034 NP_114423 Q8NBS3 S4A11_HUMAN solute carrier family 4 member 11 720 Helical; (Potential).|Membrane (bicarbonate transporter). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity ovary(1) 1 GGGGTAGGCGGCATGGATCCA 0.617 4 76 --- --- --- --- PASS C20orf72 92667 broad.mit.edu 37 20 17956459 17956459 + Missense_Mutation SNP A C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr20:17956459A>C uc002wqh.2 + 3 726 c.644A>C c.(643-645)GAT>GCT p.D215A C20orf72_uc010gco.2_Intron|C20orf72_uc010gcp.2_RNA NM_052865 NP_443097 Q9BQP7 CT072_HUMAN hypothetical protein LOC92667 215 0 ATTCTGAAAGATGTCAGTGGA 0.418 4 162 --- --- --- --- PASS CST4 1472 broad.mit.edu 37 20 23666549 23666549 + Silent SNP G C C TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr20:23666549G>C uc002wto.1 - 3 464 c.408C>G c.(406-408)TCC>TCG p.S136S NM_001899 NP_001890 P01036 CYTS_HUMAN cystatin S precursor 136 extracellular region cysteine-type endopeptidase inhibitor activity breast(1) 1 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) CTTGACACCTGGAATTCACCA 0.577 4 93 --- --- --- --- PASS ZNF337 26152 broad.mit.edu 37 20 25656918 25656918 + Missense_Mutation SNP C G G TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr20:25656918C>G uc002wva.2 - 4 1528 c.1006G>C c.(1006-1008)GTT>CTT p.V336L uc002wuz.2_RNA|ZNF337_uc010ztg.1_Missense_Mutation_p.V304L|ZNF337_uc002wvb.2_Missense_Mutation_p.V336L|ZNF337_uc002wvc.2_Missense_Mutation_p.V336L NM_015655 NP_056470 Q9Y3M9 ZN337_HUMAN zinc finger protein 337 336 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTGTGCACAACGAAGTATGAC 0.483 5 174 --- --- --- --- PASS NCOA6 23054 broad.mit.edu 37 20 33345834 33345834 + Silent SNP T A A rs957277 TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr20:33345834T>A uc002xav.2 - 8 3288 c.717A>T c.(715-717)CCA>CCT p.P239P NCOA6_uc002xaw.2_Silent_p.P239P|NCOA6_uc010gew.1_Silent_p.P196P NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 239 TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 TTGGGTGATGTGGGGGAGCTA 0.363 7 96 --- --- --- --- PASS GGT7 2686 broad.mit.edu 37 20 33450711 33450711 + Nonsense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr20:33450711C>A uc002xay.2 - 3 506 c.463G>T c.(463-465)GAG>TAG p.E155* GGT7_uc002xaz.1_Nonsense_Mutation_p.E172*|GGT7_uc002xba.1_Nonsense_Mutation_p.E155* NM_178026 NP_821158 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 155 Extracellular (Potential). glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity ovary(1) 1 CTGAGCACCTCGATGCCCAGT 0.617 9 48 --- --- --- --- PASS VSTM2L 128434 broad.mit.edu 37 20 36560111 36560111 + Missense_Mutation SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr20:36560111G>A uc002xhk.3 + 2 450 c.196G>A c.(196-198)GGC>AGC p.G66S NM_080607 NP_542174 Q96N03 VTM2L_HUMAN V-set and transmembrane domain containing 2 like 66 Ig-like. ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(115;0.00878) CTCCTTCCGCGGCAGCGGCTC 0.622 30 178 --- --- --- --- PASS CBLN4 140689 broad.mit.edu 37 20 54573676 54573676 + Missense_Mutation SNP T A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr20:54573676T>A uc002xxa.2 - 3 1328 c.543A>T c.(541-543)AAA>AAT p.K181N NM_080617 NP_542184 Q9NTU7 CBLN4_HUMAN cerebellin 4 precursor 181 C1q. cell junction|extracellular region|synapse ovary(3)|pancreas(1) 4 Colorectal(105;0.202) CCAAATTACCTTTCTCCAGTT 0.468 7 165 --- --- --- --- PASS C20orf108 116151 broad.mit.edu 37 20 54941160 54941160 + Silent SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr20:54941160C>T uc002xxc.2 + 3 475 c.396C>T c.(394-396)CTC>CTT p.L132L NM_080821 NP_543011 Q96KR6 CT108_HUMAN hypothetical protein LOC116151 132 DUF1279. integral to membrane 0 Colorectal(105;0.202) TGCTGAAACTCGGATTTAAAG 0.453 8 115 --- --- --- --- PASS GAB4 128954 broad.mit.edu 37 22 17443716 17443716 + Silent SNP C T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr22:17443716C>T uc002zlw.2 - 10 1740 c.1632G>A c.(1630-1632)GTG>GTA p.V544V NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 544 large_intestine(1)|ovary(1) 2 all_epithelial(15;0.112)|Lung NSC(13;0.248) TCTCCAGATCCACCTGGACAT 0.607 7 95 --- --- --- --- PASS CRYBB1 1414 broad.mit.edu 37 22 26997948 26997948 + Missense_Mutation SNP G T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr22:26997948G>T uc003acy.1 - 5 540 c.470C>A c.(469-471)GCC>GAC p.A157D NM_001887 NP_001878 P53674 CRBB1_HUMAN crystallin, beta B1 157 Beta/gamma crystallin 'Greek key' 3. visual perception structural constituent of eye lens ovary(1) 1 CTTGAAGTTGGCCCCTTCAAA 0.557 21 111 --- --- --- --- PASS CARD10 29775 broad.mit.edu 37 22 37888691 37888691 + Missense_Mutation SNP G T T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr22:37888691G>T uc003asx.1 - 17 2598 c.2595C>A c.(2593-2595)GAC>GAA p.D865E CARD10_uc003ast.1_RNA|CARD10_uc003asu.1_5'Flank|CARD10_uc003asv.1_5'UTR|CARD10_uc011ank.1_Missense_Mutation_p.D183E|CARD10_uc003asw.1_Missense_Mutation_p.D579E|CARD10_uc003asy.1_Missense_Mutation_p.D865E NM_014550 NP_055365 Q9BWT7 CAR10_HUMAN caspase recruitment domain protein 10 865 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1) 6 Melanoma(58;0.0574) AGCTGGGCAGGTCTAGCAGGT 0.687 4 32 --- --- --- --- PASS TRIOBP 11078 broad.mit.edu 37 22 38122102 38122102 + Missense_Mutation SNP A G G TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr22:38122102A>G uc003atr.2 + 7 3810 c.3539A>G c.(3538-3540)CAG>CGG p.Q1180R TRIOBP_uc003atu.2_Missense_Mutation_p.Q1008R|TRIOBP_uc003atq.1_Missense_Mutation_p.Q1180R|TRIOBP_uc003ats.1_Missense_Mutation_p.Q1008R NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 1180 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) CCACCACGCCAGGCTCCTGAG 0.622 15 141 --- --- --- --- PASS GTPBP1 9567 broad.mit.edu 37 22 39122020 39122020 + Silent SNP G T T rs146011021 TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr22:39122020G>T uc003awg.2 + 7 1237 c.1083G>T c.(1081-1083)CCG>CCT p.P361P NM_004286 NP_004277 O00178 GTPB1_HUMAN GTP binding protein 1 361 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity ovary(1) 1 Melanoma(58;0.04) GGATGTGCCCGATATTCCAGA 0.572 27 250 --- --- --- --- PASS PNPLA5 150379 broad.mit.edu 37 22 44285398 44285398 + Silent SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr22:44285398C>A uc003beg.2 - 4 610 c.513G>T c.(511-513)CTG>CTT p.L171L PNPLA5_uc011aqc.1_Intron|PNPLA5_uc003beh.2_Intron NM_138814 NP_620169 Q7Z6Z6 PLPL5_HUMAN patatin-like phospholipase domain containing 5 171 Patatin. lipid catabolic process hydrolase activity 0 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) AGTTGTTGCTCAGAGCCCCAT 0.637 14 221 --- --- --- --- PASS GSPT2 23708 broad.mit.edu 37 X 51487663 51487663 + Missense_Mutation SNP C A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chrX:51487663C>A uc004dpl.2 + 1 1167 c.941C>A c.(940-942)GCC>GAC p.A314D NM_018094 NP_060564 Q8IYD1 ERF3B_HUMAN peptide chain release factor 3 314 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding ovary(1) 1 Ovarian(276;0.236) GTCATCTCTGCCAGGAAAGGA 0.428 30 151 --- --- --- --- PASS SPANXC 64663 broad.mit.edu 37 X 140336531 140336531 + Missense_Mutation SNP C A A rs145019855 byFrequency TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chrX:140336531C>A uc004fbk.2 - 1 116 c.60G>T c.(58-60)GAG>GAT p.E20D SPANXC_uc004fbl.2_Intron NM_022661 NP_073152 Q9NY87 SPNXC_HUMAN sperm protein associated with the nucleus, X 20 cytoplasm|nucleus 0 Acute lymphoblastic leukemia(192;7.65e-05) TCTCATTCACCTCGTTGGATT 0.294 19 139 --- --- --- --- PASS GABRA3 2556 broad.mit.edu 37 X 151336820 151336820 + Silent SNP G A A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chrX:151336820G>A uc010ntk.1 - 10 1599 c.1359C>T c.(1357-1359)AGC>AGT p.S453S NM_000808 NP_000799 P34903 GBRA3_HUMAN gamma-aminobutyric acid A receptor, alpha 3 453 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGTCAACCTTGCTGACACTGT 0.512 24 132 --- --- --- --- PASS MAFA 389692 broad.mit.edu 37 8 144511954 144511956 + In_Frame_Del DEL TGG - - TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr8:144511954_144511956delTGG uc003yyc.1 - 1 621_623 c.621_623delCCA c.(619-624)CACCAT>CAT p.207_208HH>H NM_201589 NP_963883 Q8NHW3 MAFA_HUMAN v-maf musculoaponeurotic fibrosarcoma oncogene 207_208 His-rich. insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus nucleus protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237) CGCGCCGCCAtggtggtggtggt 0.581 HNSCC(29;0.082) 4 3 --- --- --- --- Unknown 0 broad.mit.edu 37 17 20806093 20806093 + RNA DEL G - - TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 8e05a30d-2177-45e0-90fd-8c5961268c39 61fa546c-6900-471c-b579-b62fa1f697b7 g.chr17:20806093delG uc002gyg.1 + 4 c.1277delG uc002gyh.1_RNA Homo sapiens cDNA FLJ32911 fis, clone TESTI2006210. CGACTCCCAAGGAACCACTAA 0.448 4 2 --- --- --- ---