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 VPS13D 55187 broad.mit.edu 37 1 12414081 12414081 + Missense_Mutation SNP A G G TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr1:12414081A>G uc001atv.2 + 47 9623 c.9482A>G c.(9481-9483)AAC>AGC p.N3161S VPS13D_uc001atw.2_Missense_Mutation_p.N3136S|VPS13D_uc001atx.2_Missense_Mutation_p.N2348S NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 3160 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) ATGCCCTCAAACATATTTTCT 0.363 HSPB7 27129 broad.mit.edu 37 1 16342135 16342135 + Silent SNP T C C TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr1:16342135T>C uc001axo.2 - 3 1280 c.453A>G c.(451-453)GCA>GCG p.A151A HSPB7_uc001axp.2_Silent_p.A234A|HSPB7_uc001axq.2_Silent_p.A243A|HSPB7_uc001axr.2_Silent_p.A244A|HSPB7_uc001axs.2_Silent_p.A226A NM_014424 NP_055239 Q9UBY9 HSPB7_HUMAN cardiovascular heat shock protein 151 regulation of heart contraction|response to heat|response to unfolded protein Cajal body protein C-terminus binding 0 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) GGTGACGCCGTGCCCGGATAG 0.642 EPHA8 2046 broad.mit.edu 37 1 22927421 22927421 + Silent SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr1:22927421C>T uc001bfx.1 + 15 2694 c.2569C>T c.(2569-2571)CTG>TTG p.L857L NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 857 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GGGGTACCGCCTGCCCGCACC 0.697 PHACTR4 65979 broad.mit.edu 37 1 28818258 28818258 + Nonsense_Mutation SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr1:28818258C>T uc001bpw.2 + 12 2257 c.1975C>T c.(1975-1977)CGA>TGA p.R659* PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Nonsense_Mutation_p.R643*|PHACTR4_uc001bpy.2_Nonsense_Mutation_p.R669*|PHACTR4_uc001bpz.2_RNA NM_001048183 NP_001041648 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 isoform 1 659 actin binding|protein phosphatase inhibitor activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TTATGACCGGCGAGCCGACAA 0.398 IPP 3652 broad.mit.edu 37 1 46165793 46165793 + Missense_Mutation SNP G C C rs147854966 TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr1:46165793G>C uc001cou.2 - 9 1867 c.1600C>G c.(1600-1602)CTT>GTT p.L534V IPP_uc001cos.3_Missense_Mutation_p.L534V NM_005897 NP_005888 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 534 actin cytoskeleton|cytoplasm actin binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) ACATACAGAAGACCATTGACT 0.423 GADD45A 1647 broad.mit.edu 37 1 68152267 68152267 + Silent SNP G T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr1:68152267G>T uc001ddz.1 + 3 676 c.381G>T c.(379-381)GTG>GTT p.V127V GADD45A_uc009wbb.1_Silent_p.V93V|GADD45A_uc009wbc.1_Intron|GADD45A_uc009wbd.1_Intron NM_001924 NP_001915 P24522 GA45A_HUMAN growth arrest and DNA-damage-inducible, alpha 127 apoptosis|cell cycle arrest|cellular response to ionizing radiation|cellular response to mechanical stimulus|DNA repair|positive regulation of reactive oxygen species metabolic process|regulation of cyclin-dependent protein kinase activity|signal transduction in response to DNA damage nucleus protein binding ovary(1) 1 GCGTGCTGGTGACGGTAAGGG 0.706 ABCA4 24 broad.mit.edu 37 1 94522271 94522271 + Silent SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr1:94522271G>A uc001dqh.2 - 15 2372 c.2268C>T c.(2266-2268)TCC>TCT p.S756S ABCA4_uc010otn.1_Intron NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 756 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GACTGGCCTTGGAGAAGAAGG 0.542 CGN 57530 broad.mit.edu 37 1 151491406 151491406 + Silent SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr1:151491406C>T uc009wmw.2 + 2 555 c.411C>T c.(409-411)TCC>TCT p.S137S NM_020770 NP_065821 Q9P2M7 CING_HUMAN cingulin 131 Interacts with ZO-2.|Head. myosin complex|tight junction actin binding|motor activity ovary(2)|pancreas(1) 3 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GTTCCCACTCCCAGGCCTCAC 0.592 S100A14 57402 broad.mit.edu 37 1 153587428 153587428 + Missense_Mutation SNP C G G TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr1:153587428C>G uc001fce.2 - 4 346 c.248G>C c.(247-249)AGT>ACT p.S83T S100A16_uc001fcd.1_5'Flank NM_020672 NP_065723 Q9HCY8 S10AE_HUMAN S100 calcium binding protein A14 83 2; high affinity (Potential). calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm calcium ion binding|chemokine receptor binding 0 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) CTCCCAGAAACTCCTGAACTC 0.557 NUP210L 91181 broad.mit.edu 37 1 153973356 153973356 + Missense_Mutation SNP C A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr1:153973356C>A uc001fdw.2 - 37 5434 c.5362G>T c.(5362-5364)GCT>TCT p.A1788S NUP210L_uc009woq.2_Missense_Mutation_p.A697S|NUP210L_uc010peh.1_Intron NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 1788 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TCTTTCATAGCCCTCACTACC 0.363 PYHIN1 149628 broad.mit.edu 37 1 158914677 158914677 + Missense_Mutation SNP A G G TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr1:158914677A>G uc001ftb.2 + 7 1449 c.1204A>G c.(1204-1206)ACA>GCA p.T402A PYHIN1_uc001ftc.2_Missense_Mutation_p.T393A|PYHIN1_uc001ftd.2_Missense_Mutation_p.T402A|PYHIN1_uc001fte.2_Missense_Mutation_p.T393A NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 alpha 1 402 cell cycle nuclear speck ovary(3)|pancreas(1) 4 all_hematologic(112;0.0378) ACAGAAAAATACAAACCAGAG 0.373 C1orf125 126859 broad.mit.edu 37 1 179364322 179364322 + Missense_Mutation SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr1:179364322C>T uc001gmo.2 + 11 1221 c.1094C>T c.(1093-1095)GCG>GTG p.A365V C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Missense_Mutation_p.A153V|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.A365V NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN hypothetical protein LOC126859 isoform 1 365 Potential. 0 CTTTTAAATGCGGAAAAGAAT 0.353 HMCN1 83872 broad.mit.edu 37 1 186134268 186134268 + Silent SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr1:186134268C>T uc001grq.1 + 98 15511 c.15282C>T c.(15280-15282)TCC>TCT p.S5094S HMCN1_uc001grs.1_Silent_p.S663S NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 5094 response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 AGTGCCCCTCCGGGTTTACCT 0.388 FCAMR 83953 broad.mit.edu 37 1 207140441 207140441 + Missense_Mutation SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr1:207140441G>A uc001hfa.3 - 3 625 c.125C>T c.(124-126)GCG>GTG p.A42V FCAMR_uc001hfb.2_Missense_Mutation_p.A42V|FCAMR_uc009xca.1_Missense_Mutation_p.A42V|FCAMR_uc001hfc.2_Intron NM_001122980 NP_001116452 Q8WWV6 FCAMR_HUMAN Fc receptor, IgA, IgM, high affinity isoform 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment integral to membrane|plasma membrane receptor activity ovary(1) 1 TTTCCATCCCGCCCTCCTGCT 0.527 USH2A 7399 broad.mit.edu 37 1 215848243 215848243 + Missense_Mutation SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr1:215848243G>A uc001hku.1 - 63 13397 c.13010C>T c.(13009-13011)ACG>ATG p.T4337M NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4337 Fibronectin type-III 28.|Extracellular (Potential). T -> M (in USH2A). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCCTCCACTCGTGCAGGCTTG 0.498 HNSCC(13;0.011) USH2A 7399 broad.mit.edu 37 1 216538373 216538373 + Missense_Mutation SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr1:216538373G>A uc001hku.1 - 4 1093 c.706C>T c.(706-708)CCT>TCT p.P236S USH2A_uc001hkv.2_Missense_Mutation_p.P236S NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 236 Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GCATTGAAAGGTGTATGATCC 0.353 HNSCC(13;0.011) OR2T33 391195 broad.mit.edu 37 1 248436840 248436840 + Missense_Mutation SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr1:248436840C>T uc010pzi.1 - 1 277 c.277G>A c.(277-279)GCT>ACT p.A93T NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 93 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CCACAGCCAGCGCGGGAGATG 0.577 GPRIN2 9721 broad.mit.edu 37 10 46999114 46999114 + Silent SNP T G G TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr10:46999114T>G uc001jec.2 + 3 369 c.234T>G c.(232-234)TCT>TCG p.S78S GPRIN2_uc010qfq.1_5'Flank NM_014696 NP_055511 O60269 GRIN2_HUMAN G protein-regulated inducer of neurite outgrowth 78 0 CACGGGCCTCTGGCCCCAAGG 0.706 PTEN 5728 broad.mit.edu 37 10 89624265 89624267 + In_Frame_Del DEL AAG - - TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr10:89624265_89624267delAAG uc001kfb.2 + 2 1070_1072 c.39_41delAAG c.(37-42)AAAAGG>AAG p.R15del KILLIN_uc009xti.2_5'Flank NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 15 Phosphatase tensin-type. R -> S (in glioma). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.?(13)|p.0?(12)|p.R15I(4)|p.R15S(3)|p.R14G(2)|p.R14fs*29(1)|p.R15K(1)|p.R15fs*28(1)|p.I8_R14>LRLICIF(1)|p.R14fs*10(1)|p.R15fs*9(1)|p.K13del(1)|p.N12fs*6(1)|p.R14_D22del(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GCAGAAACAAAAGGAGATATCAA 0.488 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) CPT1A 1374 broad.mit.edu 37 11 68549243 68549243 + Missense_Mutation SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr11:68549243C>T uc001oog.3 - 11 1518 c.1348G>A c.(1348-1350)GAC>AAC p.D450N CPT1A_uc001oof.3_Missense_Mutation_p.D450N|CPT1A_uc009ysj.2_Intron NM_001876 NP_001867 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A liver isoform 450 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity skin(2) 2 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) CGGTACCTGTCGTAACATCGG 0.473 FAT3 120114 broad.mit.edu 37 11 92539549 92539549 + Missense_Mutation SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr11:92539549C>T uc001pdj.3 + 11 9132 c.9115C>T c.(9115-9117)CCT>TCT p.P3039S NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 3039 Cadherin 28.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGCATTACTTCCTGAAGACAT 0.358 TCGA Ovarian(4;0.039) CD163L1 283316 broad.mit.edu 37 12 7559424 7559424 + Missense_Mutation SNP A G G TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr12:7559424A>G uc001qsy.2 - 5 817 c.791T>C c.(790-792)CTT>CCT p.L264P CD163L1_uc010sge.1_Missense_Mutation_p.L274P NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 264 SRCR 3.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 TCCACCTACAAGCCTTAGTTC 0.448 AICDA 57379 broad.mit.edu 37 12 8759510 8759510 + Missense_Mutation SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr12:8759510C>T uc001qur.2 - 2 186 c.107G>A c.(106-108)CGT>CAT p.R36H AICDA_uc001qup.1_Missense_Mutation_p.R31H|AICDA_uc001quq.1_Missense_Mutation_p.R31H|AICDA_uc009zgd.1_RNA NM_020661 NP_065712 Q9GZX7 AICDA_HUMAN activation-induced cytidine deaminase 36 B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing cytoplasm cytidine deaminase activity|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung SC(5;0.184) AGCACTGTCACGCCTCTTCAC 0.463 Immune_Deficiency_with_Hyper-IgM SENP1 29843 broad.mit.edu 37 12 48465464 48465464 + Silent SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr12:48465464C>T uc001rqx.2 - 9 1427 c.981G>A c.(979-981)CAG>CAA p.Q327Q SENP1_uc001rqw.2_Silent_p.Q327Q|SENP1_uc001rqy.2_Silent_p.Q128Q|SENP1_uc001rqz.2_Silent_p.Q128Q|SENP1_uc009zkx.2_Silent_p.Q327Q NM_014554 NP_055369 Q9P0U3 SENP1_HUMAN sentrin/SUMO-specific protease 1 327 activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus endopeptidase activity|SUMO-specific protease activity pancreas(2)|lung(1) 3 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) GAGTTGGAGTCTGGGAATCTT 0.249 DGKA 1606 broad.mit.edu 37 12 56336026 56336026 + Nonsense_Mutation SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr12:56336026C>T uc001sij.2 + 17 1669 c.1405C>T c.(1405-1407)CGA>TGA p.R469* DGKA_uc001sih.1_Nonsense_Mutation_p.R357*|DGKA_uc001sii.1_Nonsense_Mutation_p.R327*|DGKA_uc009zod.1_Nonsense_Mutation_p.R388*|DGKA_uc001sik.2_Nonsense_Mutation_p.R469*|DGKA_uc001sil.2_Nonsense_Mutation_p.R469*|DGKA_uc001sim.2_Nonsense_Mutation_p.R469*|DGKA_uc001sin.2_Nonsense_Mutation_p.R469*|DGKA_uc009zof.2_Nonsense_Mutation_p.R115*|DGKA_uc001sio.2_Nonsense_Mutation_p.R211* NM_001345 NP_001336 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 469 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity ovary(3)|pancreas(1) 4 Vitamin E(DB00163) TGATCTGGCTCGATGCCTAAG 0.498 SSH1 54434 broad.mit.edu 37 12 109194640 109194640 + Missense_Mutation SNP T C C TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr12:109194640T>C uc001tnm.2 - 12 1151 c.1064A>G c.(1063-1065)TAT>TGT p.Y355C SSH1_uc001tnl.2_Missense_Mutation_p.Y43C|SSH1_uc010sxg.1_Missense_Mutation_p.Y366C|SSH1_uc001tnn.3_Missense_Mutation_p.Y355C NM_018984 NP_061857 Q8WYL5 SSH1_HUMAN slingshot 1 isoform 1 355 Tyrosine-protein phosphatase. actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(4) 4 GATGTTATGATATGCAAATAA 0.363 VSIG10 54621 broad.mit.edu 37 12 118509166 118509166 + Missense_Mutation SNP T G G TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr12:118509166T>G uc001tws.2 - 6 1662 c.1328A>C c.(1327-1329)AAA>ACA p.K443T NM_019086 NP_061959 Q8N0Z9 VSI10_HUMAN V-set and immunoglobulin domain containing 10 443 Cytoplasmic (Potential). integral to membrane 0 GTCCTTACCTTTCCAGCAGAA 0.532 RB1 5925 broad.mit.edu 37 13 48941638 48941641 + Frame_Shift_Del DEL TCTT - - TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr13:48941638_48941641delTCTT uc001vcb.2 + 10 1114_1117 c.948_951delTCTT c.(946-951)AATCTTfs p.N316fs RB1_uc010act.1_Frame_Shift_Del_p.N17fs NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 316_317 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(6) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGGTTGAAAATCTTTCTAAACGAT 0.299 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) PIBF1 10464 broad.mit.edu 37 13 73372127 73372127 + Nonsense_Mutation SNP T A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr13:73372127T>A uc001vjc.2 + 5 940 c.635T>A c.(634-636)TTA>TAA p.L212* PIBF1_uc001vja.1_Nonsense_Mutation_p.L212*|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Nonsense_Mutation_p.L212*|PIBF1_uc010aep.2_Intron NM_006346 NP_006337 Q8WXW3 PIBF1_HUMAN progesterone-induced blocking factor 1 212 centrosome ovary(1)|breast(1) 2 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) GCAGAAGAATTAAGTACAAAC 0.373 MIA2 117153 broad.mit.edu 37 14 39722420 39722420 + Missense_Mutation SNP G T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr14:39722420G>T uc001wux.2 + 6 2126 c.1932G>T c.(1930-1932)TTG>TTT p.L644F NM_054024 NP_473365 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 Error:Variant_position_missing_in_Q96PC5_after_alignment extracellular region ovary(1)|breast(1) 2 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) TACCTATTTTGCTAAATATAA 0.289 FLVCR2 55640 broad.mit.edu 37 14 76107379 76107379 + Silent SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr14:76107379C>T uc001xrs.2 + 7 1693 c.1317C>T c.(1315-1317)TCC>TCT p.S439S FLVCR2_uc010tvd.1_Silent_p.S234S NM_017791 NP_060261 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular 439 Helical; (Potential). S -> F (in Ref. 3; BAA91126). transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity 0 BRCA - Breast invasive adenocarcinoma(234;0.029) GCATCTCCTCCGGCCTCCTCA 0.502 SPTBN5 51332 broad.mit.edu 37 15 42148626 42148626 + Frame_Shift_Del DEL A - - TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr15:42148626delA uc001zos.2 - 53 9207 c.8874delT c.(8872-8874)CTTfs p.L2958fs NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 2993 Spectrin 26. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) GCTGCAGCAGAAGCCGCCTCC 0.697 ZSCAN29 146050 broad.mit.edu 37 15 43661801 43661801 + Missense_Mutation SNP C G G TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr15:43661801C>G uc001zrk.1 - 1 458 c.311G>C c.(310-312)AGA>ACA p.R104T ZSCAN29_uc001zrj.1_5'Flank|ZSCAN29_uc010bdf.1_Missense_Mutation_p.R103T|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Missense_Mutation_p.R103T|ZSCAN29_uc001zrm.2_Missense_Mutation_p.R103T|TUBGCP4_uc001zrn.2_5'Flank|TUBGCP4_uc001zro.2_5'Flank NM_152455 NP_689668 Q8IWY8 ZSC29_HUMAN zinc finger protein 690 104 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.97e-07) CACCGAAGATCTAGGTCTTCC 0.468 ONECUT1 3175 broad.mit.edu 37 15 53081863 53081863 + Silent SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr15:53081863C>T uc002aci.1 - 1 347 c.219G>A c.(217-219)CGG>CGA p.R73R NM_004498 NP_004489 Q9UBC0 HNF6_HUMAN one cut homeobox 1 73 endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding 0 all cancers(107;0.0708) GCTCAGGGGCCCGGTGGTGGT 0.711 TCF12 6938 broad.mit.edu 37 15 57565229 57565244 + Frame_Shift_Del DEL AGTACTAATGAAGATG - - TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr15:57565229_57565244delAGTACTAATGAAGATG uc002aec.2 + 18 1959_1974 c.1675_1690delAGTACTAATGAAGATG c.(1675-1692)AGTACTAATGAAGATGAGfs p.S559fs TCF12_uc010ugm.1_Frame_Shift_Del_p.S611fs|TCF12_uc010ugn.1_Frame_Shift_Del_p.S579fs|TCF12_uc002aea.2_Frame_Shift_Del_p.S583fs|TCF12_uc010bfs.2_5'UTR|TCF12_uc002aeb.2_Frame_Shift_Del_p.S583fs|TCF12_uc002aed.2_Frame_Shift_Del_p.S559fs|TCF12_uc002aee.2_Frame_Shift_Del_p.S389fs|TCF12_uc010bft.2_Frame_Shift_Del_p.S413fs|TCF12_uc010ugo.1_Frame_Shift_Del_p.S323fs|TCF12_uc010ugp.1_Splice_Site_p.S216_splice|TCF12_uc010ugq.1_Frame_Shift_Del_p.S193fs|TCF12_uc010ugr.1_Frame_Shift_Del_p.S172fs NM_207038 NP_996921 Q99081 HTF4_HUMAN transcription factor 12 isoform b 559_564 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(2)|lung(1) 8 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) ATTTTCTAGCAGTACTAATGAAGATGAGGATTTGAA 0.384 T TEC extraskeletal myxoid chondrosarcoma ZNF592 9640 broad.mit.edu 37 15 85326217 85326217 + Missense_Mutation SNP C A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr15:85326217C>A uc002bld.2 + 4 647 c.311C>A c.(310-312)CCC>CAC p.P104H ZNF592_uc010upb.1_RNA NM_014630 NP_055445 Q92610 ZN592_HUMAN zinc finger protein 592 104 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(143;0.0587) CCTCCAGATCCCCACAACTGT 0.512 SLC28A1 9154 broad.mit.edu 37 15 85478601 85478601 + Missense_Mutation SNP C T T rs116070802 by1000genomes TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr15:85478601C>T uc002blg.2 + 15 1635 c.1433C>T c.(1432-1434)GCG>GTG p.A478V SLC28A1_uc010bnb.2_Missense_Mutation_p.A478V|SLC28A1_uc010upe.1_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.A478V|SLC28A1_uc010upg.1_Missense_Mutation_p.A478V NM_004213 NP_004204 O00337 S28A1_HUMAN solute carrier family 28, member 1 isoform 1 478 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(143;0.0587) ATGGGTGTGGCGTGGGAGGAC 0.597 CRTC3 64784 broad.mit.edu 37 15 91184403 91184403 + Silent SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr15:91184403C>T uc002bpp.2 + 14 1729 c.1623C>T c.(1621-1623)TGC>TGT p.C541C CRTC3_uc002bpo.2_Silent_p.C541C NM_022769 NP_073606 Q6UUV7 CRTC3_HUMAN transducer of regulated CREB protein 3 isoform 541 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) salivary_gland(26)|ovary(1) 27 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) ATTCCAACTGCGGGAGTCTCC 0.507 T MAML2 salivary gland mucoepidermoid WDR90 197335 broad.mit.edu 37 16 711897 711897 + Nonsense_Mutation SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr16:711897C>T uc002cii.1 + 32 3925 c.3871C>T c.(3871-3873)CGA>TGA p.R1291* WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Nonsense_Mutation_p.R818*|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Nonsense_Mutation_p.R465*|WDR90_uc002cin.1_5'UTR NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 1291 ovary(1) 1 Hepatocellular(780;0.0218) CCAGGTGCGTCGAGAGCCAGT 0.637 MLST8 64223 broad.mit.edu 37 16 2256621 2256621 + Missense_Mutation SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr16:2256621C>T uc002coz.2 + 4 424 c.305C>T c.(304-306)ACG>ATG p.T102M MLST8_uc002coy.2_Missense_Mutation_p.T102M|MLST8_uc002cpa.2_Translation_Start_Site|MLST8_uc002cpb.2_Missense_Mutation_p.T101M|MLST8_uc010uvx.1_Missense_Mutation_p.T36M|MLST8_uc002cpc.2_Missense_Mutation_p.T102M|MLST8_uc002cpd.2_Missense_Mutation_p.T36M|MLST8_uc002cpe.2_Missense_Mutation_p.T102M|MLST8_uc010uvy.1_Missense_Mutation_p.T102M|MLST8_uc002cpg.2_Missense_Mutation_p.T121M|MLST8_uc002cph.2_RNA|MLST8_uc002cpf.2_Missense_Mutation_p.T102M NM_022372 NP_071767 Q9BVC4 LST8_HUMAN G protein beta subunit-like 102 WD 3. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation cytosol protein binding 0 TGGATGTACACGGGCGGCGAG 0.627 CCNF 899 broad.mit.edu 37 16 2506722 2506722 + Missense_Mutation SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr16:2506722C>T uc002cqd.1 + 17 2150 c.2062C>T c.(2062-2064)CGC>TGC p.R688C CCNF_uc002cqe.1_Missense_Mutation_p.R380C NM_001761 NP_001752 P41002 CCNF_HUMAN cyclin F 688 PEST. cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding central_nervous_system(1)|kidney(1) 2 Ovarian(90;0.17) ACCCCTGGTCCGCACCAGCCG 0.662 GOT2 2806 broad.mit.edu 37 16 58752174 58752174 + Missense_Mutation SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr16:58752174G>A uc002eof.1 - 6 742 c.628C>T c.(628-630)CAT>TAT p.H210Y GOT2_uc010vim.1_Missense_Mutation_p.H167Y NM_002080 NP_002071 P00505 AATM_HUMAN aspartate aminotransferase 2 precursor 210 aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol mitochondrial matrix|plasma membrane L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GCGCAGGCATGCAGAAGAAGA 0.498 CNTNAP4 85445 broad.mit.edu 37 16 76486640 76486640 + Missense_Mutation SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr16:76486640G>A uc002feu.1 + 10 1692 c.1307G>A c.(1306-1308)GGA>GAA p.G436E CNTNAP4_uc002fev.1_Missense_Mutation_p.G300E|CNTNAP4_uc010chb.1_Missense_Mutation_p.G363E|CNTNAP4_uc002fex.1_Missense_Mutation_p.G439E|CNTNAP4_uc002few.2_Missense_Mutation_p.G411E NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 436 Extracellular (Potential).|Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 TACCAGCCAGGAAAATTACCC 0.428 ZC3H18 124245 broad.mit.edu 37 16 88688687 88688687 + Missense_Mutation SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr16:88688687C>T uc002fky.2 + 9 1758 c.1558C>T c.(1558-1560)CGC>TGC p.R520C ZC3H18_uc010voz.1_Missense_Mutation_p.R544C|ZC3H18_uc010chw.2_RNA NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 520 nucleus nucleic acid binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0542) GGACCCTTGGCGCCGATCCAA 0.602 PITPNM3 83394 broad.mit.edu 37 17 6376097 6376097 + Missense_Mutation SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr17:6376097C>T uc002gdd.3 - 11 1460 c.1309G>A c.(1309-1311)GCA>ACA p.A437T PITPNM3_uc010cln.2_Missense_Mutation_p.A401T|PITPNM3_uc010clm.2_5'UTR|PITPNM3_uc002gdc.3_Missense_Mutation_p.A28T NM_031220 NP_112497 Q9BZ71 PITM3_HUMAN PITPNM family member 3 isoform 1 437 DDHD. phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding ovary(2)|central_nervous_system(2) 4 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) GAGGGGTCTGCGCAATGGAAG 0.632 TP53 7157 broad.mit.edu 37 17 7578457 7578457 + Missense_Mutation SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr17:7578457C>T uc002gim.2 - 5 667 c.473G>A c.(472-474)CGC>CAC p.R158H TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.2_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.1_Missense_Mutation_p.R119H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 158 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCCATGGCGCGGACGCGGGT 0.627 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) MED13 9969 broad.mit.edu 37 17 60072508 60072512 + Splice_Site DEL CTTAC - - TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr17:60072508_60072512delCTTAC uc002izo.2 - 10 2258 c.2181_splice c.e10+1 p.K727_splice NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 TGTGATTTCTCTTACCTTGTGTTTT 0.346 FSCN2 25794 broad.mit.edu 37 17 79503762 79503762 + Missense_Mutation SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr17:79503762C>T uc010wup.1 + 4 1361 c.1220C>T c.(1219-1221)TCC>TTC p.S407F FSCN2_uc010wuo.1_Missense_Mutation_p.S431F NM_012418 NP_036550 O14926 FSCN2_HUMAN fascin 2 isoform 1 407 actin filament bundle assembly|anatomical structure morphogenesis|visual perception actin cytoskeleton|cytoplasm|stereocilium actin filament binding|protein binding, bridging 0 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) ACCAACCGCTCCGTCTACGAC 0.701 LAMA3 3909 broad.mit.edu 37 18 21441699 21441699 + Silent SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr18:21441699G>A uc002kuq.2 + 35 4598 c.4512G>A c.(4510-4512)GCG>GCA p.A1504A LAMA3_uc002kur.2_Silent_p.A1504A NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 1504 Laminin IV type A. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTATGGTGGCGGATCTCCAGG 0.587 DPP9 91039 broad.mit.edu 37 19 4704202 4704202 + Missense_Mutation SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr19:4704202G>A uc002mba.2 - 6 799 c.541C>T c.(541-543)CTC>TTC p.L181F DPP9_uc002mbb.2_Missense_Mutation_p.L181F|DPP9_uc002mbc.2_Missense_Mutation_p.L181F NM_139159 NP_631898 Q86TI2 DPP9_HUMAN dipeptidylpeptidase 9 152 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) GCCTGGAAGAGGAAGAGGCCA 0.657 VAV1 7409 broad.mit.edu 37 19 6828671 6828671 + Silent SNP C T T rs61750002 TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr19:6828671C>T uc002mfu.1 + 12 1228 c.1131C>T c.(1129-1131)AAC>AAT p.N377N VAV1_uc010xjh.1_Silent_p.N345N|VAV1_uc010dva.1_Silent_p.N377N|VAV1_uc002mfv.1_Silent_p.N322N NM_005428 NP_005419 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 377 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1) 16 AGCGAGACAACGAGACACTGC 0.637 IL12RB1 3594 broad.mit.edu 37 19 18174730 18174730 + Missense_Mutation SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr19:18174730G>A uc002nhw.1 - 13 1638 c.1574C>T c.(1573-1575)GCG>GTG p.A525V IL12RB1_uc010xqb.1_Missense_Mutation_p.A525V|IL12RB1_uc002nhx.1_Missense_Mutation_p.A565V NM_005535 NP_005526 P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 isoform 1 525 Extracellular (Potential).|Fibronectin type-III 5. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity pancreas(1) 1 CCTCAGCCACGCTGTGTCTGC 0.632 RPSAP58 388524 broad.mit.edu 37 19 24010294 24010294 + Missense_Mutation SNP C G G TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr19:24010294C>G uc002nrn.2 + 4 754 c.331C>G c.(331-333)CAG>GAG p.Q111E NM_002295 NP_002286 ribosomal protein SA 0 CTTCACTAACCAGATCCAGGC 0.567 POU2F2 5452 broad.mit.edu 37 19 42596307 42596307 + Silent SNP T G G TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr19:42596307T>G uc002osp.2 - 13 1381 c.1314A>C c.(1312-1314)CCA>CCC p.P438P POU2F2_uc002osn.2_Silent_p.P422P|POU2F2_uc002oso.2_Silent_p.P211P|POU2F2_uc002osq.2_Intron|POU2F2_uc002osr.1_Silent_p.P438P NM_002698 NP_002689 P09086 PO2F2_HUMAN POU domain, class 2, transcription factor 2 438 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 Prostate(69;0.059) TGGCCGGGGGTGGGGGAGTGA 0.567 IGFL3 388555 broad.mit.edu 37 19 46627409 46627409 + Silent SNP A T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr19:46627409A>T uc002pea.1 - 3 109 c.84T>A c.(82-84)GCT>GCA p.A28A NM_207393 NP_997276 Q6UXB1 IGFL3_HUMAN IGF-like family member 3 precursor 28 extracellular region protein binding 0 Ovarian(192;0.0175)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239) AGCCAACAGGAGCGTCTGGGG 0.507 SULT2B1 6820 broad.mit.edu 37 19 49090651 49090651 + Missense_Mutation SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr19:49090651C>T uc002pjl.2 + 3 461 c.380C>T c.(379-381)CCC>CTC p.P127L SULT2B1_uc002pjm.2_Missense_Mutation_p.P112L NM_177973 NP_814444 O00204 ST2B1_HUMAN sulfotransferase family, cytosolic, 2B, member 1 127 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity skin(1) 1 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178) TCCCATCTTCCCATCCAGATC 0.612 KLK9 284366 broad.mit.edu 37 19 51509764 51509764 + Missense_Mutation SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr19:51509764G>A uc002pux.1 - 3 503 c.416C>T c.(415-417)CCA>CTA p.P139L KLK9_uc002puw.1_RNA|KLK9_uc010eol.1_Missense_Mutation_p.P110L|KLK9_uc002puv.1_5'Flank NM_012315 NP_036447 Q9UKQ9 KLK9_HUMAN kallikrein-related peptidase 9 precursor 139 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1) 1 all_neural(266;0.0652) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) CTGCATGCCTGGGGAGACACA 0.512 SIGLEC8 27181 broad.mit.edu 37 19 51957534 51957534 + Missense_Mutation SNP G T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr19:51957534G>T uc002pwt.2 - 6 1251 c.1184C>A c.(1183-1185)GCA>GAA p.A395E SIGLEC8_uc010yda.1_Missense_Mutation_p.A286E|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.A302E NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 precursor 395 Cytoplasmic (Potential). cell adhesion integral to membrane sugar binding|transmembrane receptor activity ovary(2)|kidney(1)|central_nervous_system(1)|skin(1) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CACGCCCGCTGCTGGCCTTGC 0.602 ZNF845 91664 broad.mit.edu 37 19 53854579 53854579 + Silent SNP T C C TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr19:53854579T>C uc010ydv.1 + 4 768 c.651T>C c.(649-651)TGT>TGC p.C217C ZNF845_uc010ydw.1_Silent_p.C217C NM_138374 NP_612383 Q96IR2 ZN845_HUMAN zinc finger protein 845 217 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTTTCCAATGTAATGAGAGTG 0.353 NLRP9 338321 broad.mit.edu 37 19 56241342 56241342 + Missense_Mutation SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr19:56241342C>T uc002qly.2 - 3 1877 c.1849G>A c.(1849-1851)GTC>ATC p.V617I NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 617 cytoplasm ATP binding skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) CGCCAGTAGACGAGCTTCTCA 0.418 IAH1 285148 broad.mit.edu 37 2 9628296 9628296 + Silent SNP A G G TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr2:9628296A>G uc002qzr.2 + 6 611 c.585A>G c.(583-585)TCA>TCG p.S195S IAH1_uc002qzs.2_Silent_p.S82S|IAH1_uc002qzt.2_Silent_p.S82S|IAH1_uc010yiz.1_RNA NM_001039613 NP_001034702 Q2TAA2 IAH1_HUMAN isoamyl acetate-hydrolyzing esterase 1 homolog 195 lipid catabolic process hydrolase activity, acting on ester bonds 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CTTATTTATCAGATGGACTAC 0.318 TTN 7273 broad.mit.edu 37 2 179542390 179542392 + In_Frame_Del DEL CTT - - TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr2:179542390_179542392delCTT uc010zfg.1 - 143 30739_30741 c.30515_30517delAAG c.(30514-30519)GAAGTC>GTC p.E10172del TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_In_Frame_Del_p.E6833del|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 11099 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) TCTGGAAGGACTTCTTCTTCAGG 0.443 COL3A1 1281 broad.mit.edu 37 2 189859008 189859008 + Missense_Mutation SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr2:189859008C>T uc002uqj.1 + 18 1360 c.1243C>T c.(1243-1245)CCT>TCT p.P415S COL3A1_uc010frw.1_RNA NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 415 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) AGCCCGGGGTCCTCCAGGACC 0.498 TSHZ2 128553 broad.mit.edu 37 20 51870661 51870661 + Missense_Mutation SNP G A A rs141167641 by1000genomes TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr20:51870661G>A uc002xwo.2 + 2 1620 c.664G>A c.(664-666)GCG>ACG p.A222T NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 222 C2H2-type 1. multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A222T(1) ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) ACAGTGCAGCGCGGCCTATGA 0.562 PCK1 5105 broad.mit.edu 37 20 56137157 56137157 + Silent SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr20:56137157G>A uc002xyn.3 + 3 418 c.255G>A c.(253-255)GTG>GTA p.V85V PCK1_uc010zzm.1_Intron NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 85 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CCAGGGATGTGGCCAGGATCG 0.572 SYCP2 10388 broad.mit.edu 37 20 58467201 58467201 + Silent SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr20:58467201C>T uc002yaz.2 - 23 2347 c.2208G>A c.(2206-2208)TCG>TCA p.S736S NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 736 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding ovary(3)|lung(2) 5 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) TATATATCAGCGATTCTTCAA 0.348 KRTAP26-1 388818 broad.mit.edu 37 21 31692021 31692021 + Silent SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr21:31692021G>A uc002ynw.2 - 1 587 c.333C>T c.(331-333)TCC>TCT p.S111S NM_203405 NP_981950 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 111 intermediate filament ovary(1) 1 GTGGTCTACAGGATACTGGAA 0.547 BPIL2 254240 broad.mit.edu 37 22 32828374 32828374 + Missense_Mutation SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr22:32828374C>T uc003amn.2 - 10 1135 c.1135G>A c.(1135-1137)GTT>ATT p.V379I BPIL2_uc010gwo.2_Intron|BPIL2_uc011amb.1_Missense_Mutation_p.V103I NM_174932 NP_777592 Q8NFQ6 BPIL2_HUMAN bactericidal/permeability-increasing 379 extracellular region lipopolysaccharide binding|phospholipid binding ovary(1)|skin(1) 2 TCCATGGAAACGATGGTTTCA 0.512 C22orf26 55267 broad.mit.edu 37 22 46449890 46449890 + Frame_Shift_Del DEL G - - TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr22:46449890delG uc003bgq.1 - 1 135 c.84delC c.(82-84)CCCfs p.P28fs LOC150381_uc011aqw.1_Intron|LOC400931_uc003bgr.3_Intron NM_018280 NP_060750 Q9NV39 CV026_HUMAN hypothetical protein LOC55267 28 Pro-rich. 0 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.0784)|LUAD - Lung adenocarcinoma(64;0.247) TTGCGGGGTTGGGGGGGGAGG 0.751 NUP210 23225 broad.mit.edu 37 3 13427820 13427820 + Missense_Mutation SNP A G G TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr3:13427820A>G uc003bxv.1 - 6 855 c.772T>C c.(772-774)TCC>CCC p.S258P NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 258 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) TAGTGAATGGAGGTTCCCACC 0.463 NKTR 4820 broad.mit.edu 37 3 42678511 42678511 + Frame_Shift_Del DEL A - - TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr3:42678511delA uc003clo.2 + 13 1462 c.1315delA c.(1315-1317)AAAfs p.K439fs NKTR_uc003clm.1_Frame_Shift_Del_p.K186fs|NKTR_uc003clp.2_Frame_Shift_Del_p.K186fs|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Frame_Shift_Del_p.K329fs|NKTR_uc003clr.1_Frame_Shift_Del_p.K186fs|NKTR_uc003cls.2_Frame_Shift_Del_p.K139fs NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 439 Arg/Lys-rich (basic). protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) GGTTAAGCATAAAAAGAAAGG 0.368 ALAS1 211 broad.mit.edu 37 3 52242221 52242221 + Missense_Mutation SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr3:52242221G>A uc003dcy.1 + 9 1625 c.1288G>A c.(1288-1290)GAT>AAT p.D430N ALAS1_uc003dcz.1_Missense_Mutation_p.D430N|ALAS1_uc011bec.1_Missense_Mutation_p.D447N NM_000688 NP_000679 P13196 HEM1_HUMAN 5-aminolevulinate synthase 1 precursor 430 heme biosynthetic process mitochondrial matrix 5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(2)|upper_aerodigestive_tract(1) 3 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) TGGGGATCGGGATGGAGTCAT 0.483 DNAH1 25981 broad.mit.edu 37 3 52422839 52422839 + Silent SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr3:52422839G>A uc011bef.1 + 59 9642 c.9381G>A c.(9379-9381)TCG>TCA p.S3127S DNAH1_uc003ddv.2_5'UTR NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3192 Potential. ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ACGGGCTGTCGGATGAGAAGG 0.667 SERPINI1 5274 broad.mit.edu 37 3 167525043 167525043 + Missense_Mutation SNP A C C TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr3:167525043A>C uc003ffa.3 + 6 1091 c.893A>C c.(892-894)GAA>GCA p.E298A SERPINI1_uc003ffb.3_Missense_Mutation_p.E298A NM_001122752 NP_001116224 Q99574 NEUS_HUMAN neuroserpin precursor 298 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(1) 1 TTCACAGTGGAACAGGAAATT 0.338 ATP8A1 10396 broad.mit.edu 37 4 42581956 42581956 + Missense_Mutation SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr4:42581956G>A uc003gwr.2 - 11 1106 c.874C>T c.(874-876)CGG>TGG p.R292W ATP8A1_uc003gws.2_Missense_Mutation_p.R292W|ATP8A1_uc011byz.1_Missense_Mutation_p.R292W NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), 292 Cytoplasmic (Potential). ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity skin(2)|central_nervous_system(1) 3 Phosphatidylserine(DB00144) TTTGTAATCCGTTCCACATTT 0.343 CENPE 1062 broad.mit.edu 37 4 104065619 104065619 + Nonsense_Mutation SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr4:104065619G>A uc003hxb.1 - 33 5104 c.5014C>T c.(5014-5016)CAG>TAG p.Q1672* CENPE_uc003hxc.1_Nonsense_Mutation_p.Q1647* NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 1672 Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TGTAGTATCTGAGTCAACCTT 0.393 CEP170L 645455 broad.mit.edu 37 4 119444540 119444540 + Missense_Mutation SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr4:119444540G>A uc003icb.2 + 2 113 c.29G>A c.(28-30)CGG>CAG p.R10Q NR_003135 RecName: Full=Cep170-like protein; 0 TTCAAACACCGGATTAAAGAG 0.443 KIAA1109 84162 broad.mit.edu 37 4 123184110 123184110 + Silent SNP T C C TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr4:123184110T>C uc003ieh.2 + 41 6999 c.6954T>C c.(6952-6954)GCT>GCC p.A2318A KIAA1109_uc003iel.1_Silent_p.A253A|KIAA1109_uc003iek.2_Silent_p.A937A NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 2318 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 GCAGTGCTGCTGTGAAAAGTA 0.463 KIAA1109 84162 broad.mit.edu 37 4 123192519 123192519 + Missense_Mutation SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr4:123192519C>T uc003ieh.2 + 45 7885 c.7840C>T c.(7840-7842)CGG>TGG p.R2614W KIAA1109_uc003iel.1_Missense_Mutation_p.R549W|KIAA1109_uc003iek.2_Missense_Mutation_p.R1233W NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 2614 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 CAGAAAACATCGGGACTTTCG 0.403 SLC10A7 84068 broad.mit.edu 37 4 147227117 147227117 + Silent SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr4:147227117C>T uc010ioz.2 - 7 770 c.516G>A c.(514-516)CAG>CAA p.Q172Q SLC10A7_uc003ikr.2_Silent_p.Q172Q|SLC10A7_uc010ipa.2_Silent_p.Q159Q|SLC10A7_uc003iks.2_RNA NM_001029998 NP_001025169 Q0GE19 NTCP7_HUMAN solute carrier family 10 (sodium/bile acid 172 Helical; (Potential). integral to membrane bile acid:sodium symporter activity 0 all_hematologic(180;0.151) TCATAAAAAGCTGAGAAAAAA 0.338 WWC2 80014 broad.mit.edu 37 4 184201996 184201998 + In_Frame_Del DEL AAG - - TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr4:184201996_184201998delAAG uc010irx.2 + 17 2812_2814 c.2630_2632delAAG c.(2629-2634)CAAGAA>CAA p.E882del WWC2_uc003ivk.3_In_Frame_Del_p.E677del|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_In_Frame_Del_p.E564del|WWC2_uc003ivn.3_In_Frame_Del_p.E397del|WWC2_uc010irz.2_In_Frame_Del_p.E199del|WWC2_uc003ivo.3_5'Flank NM_024949 NP_079225 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 882 Potential. ovary(2)|lung(1) 3 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) gaattagcacaagaagaagaaga 0.340 ZFR 51663 broad.mit.edu 37 5 32388633 32388636 + Frame_Shift_Del DEL CAGA - - TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr5:32388633_32388636delCAGA uc003jhr.1 - 13 2367_2370 c.2287_2290delTCTG c.(2287-2292)TCTGAAfs p.S763fs ZFR_uc011cny.1_RNA NM_016107 NP_057191 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 763_764 multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(35;0.19) TTCTCATGTTCAGACAAACTGTCT 0.358 ADAMTS12 81792 broad.mit.edu 37 5 33881270 33881270 + Missense_Mutation SNP T C C TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr5:33881270T>C uc003jia.1 - 2 606 c.443A>G c.(442-444)CAG>CGG p.Q148R ADAMTS12_uc010iuq.1_Missense_Mutation_p.Q148R|ADAMTS12_uc003jib.1_Missense_Mutation_p.Q148R NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 148 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TCTGGTGCCCTGCTGTAGAAC 0.577 HNSCC(64;0.19) GPR98 84059 broad.mit.edu 37 5 90046453 90046453 + Missense_Mutation SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr5:90046453G>A uc003kju.2 + 53 11156 c.11060G>A c.(11059-11061)CGT>CAT p.R3687H GPR98_uc003kjt.2_Missense_Mutation_p.R1393H|GPR98_uc003kjv.2_Missense_Mutation_p.R1287H NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 3687 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ACATATGGCCGTATAACCATA 0.343 GPR98 84059 broad.mit.edu 37 5 90144497 90144497 + Missense_Mutation SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr5:90144497G>A uc003kju.2 + 79 17159 c.17063G>A c.(17062-17064)CGA>CAA p.R5688Q GPR98_uc003kjt.2_Missense_Mutation_p.R3394Q|GPR98_uc003kjw.2_Missense_Mutation_p.R1349Q NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 5688 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GTTGCCAGCCGAACTCTTTTC 0.313 GPR98 84059 broad.mit.edu 37 5 90159635 90159635 + Missense_Mutation SNP A T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr5:90159635A>T uc003kju.2 + 83 17913 c.17817A>T c.(17815-17817)AAA>AAT p.K5939N GPR98_uc003kjt.2_Missense_Mutation_p.K3645N|GPR98_uc003kjw.2_Missense_Mutation_p.K1600N NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 5939 Cytoplasmic (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTGCAGCTAAACTTCTGACTC 0.423 EPB41L4A 64097 broad.mit.edu 37 5 111540130 111540130 + Missense_Mutation SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr5:111540130G>A uc003kpv.1 - 15 1592 c.1318C>T c.(1318-1320)CGT>TGT p.R440C EPB41L4A_uc003kpp.1_Missense_Mutation_p.R67C NM_022140 NP_071423 Q9HCS5 E41LA_HUMAN erythrocyte protein band 4.1-like 4 440 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) TTTCGGCGACGCGTGTAAGGG 0.488 ATG12 9140 broad.mit.edu 37 5 115177086 115177087 + Splice_Site INS - T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr5:115177086_115177087insT uc003krh.2 - 1 413 c.304_splice c.e1+1 p.I102_splice AP3S1_uc003krl.2_5'Flank|AP3S1_uc003krk.2_5'Flank|AP3S1_uc003krm.2_5'Flank|ATG12_uc003kri.2_Splice_Site_p.I102_splice|ATG12_uc003krj.2_RNA NM_004707 NP_004698 O94817 ATG12_HUMAN APG12 autophagy 12-like autophagic vacuole assembly|negative regulation of type I interferon production pre-autophagosomal structure membrane protein binding 0 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05) AATTCAGTTACTTTTTTTCTTG 0.550 PRR16 51334 broad.mit.edu 37 5 120022105 120022105 + Missense_Mutation SNP C T T rs137912065 byFrequency TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr5:120022105C>T uc003ksq.2 + 2 779 c.616C>T c.(616-618)CGG>TGG p.R206W PRR16_uc003ksp.2_Missense_Mutation_p.R183W|PRR16_uc003ksr.2_Missense_Mutation_p.R136W NM_016644 NP_057728 Q569H4 PRR16_HUMAN proline rich 16 206 Pro-rich. pancreas(2)|ovary(1) 3 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) AGAACGAGTTCGGTTTAATGA 0.473 CSNK1G3 1456 broad.mit.edu 37 5 122893189 122893189 + Nonsense_Mutation SNP G T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr5:122893189G>T uc003ktm.2 + 4 939 c.220G>T c.(220-222)GAG>TAG p.E74* CSNK1G3_uc003ktl.2_Nonsense_Mutation_p.E74*|CSNK1G3_uc003ktn.2_Nonsense_Mutation_p.E74*|CSNK1G3_uc003kto.2_Nonsense_Mutation_p.E74*|CSNK1G3_uc011cwr.1_5'UTR|CSNK1G3_uc011cws.1_Intron|CSNK1G3_uc010jda.2_Nonsense_Mutation_p.E74* NM_004384 NP_004375 Q9Y6M4 KC1G3_HUMAN casein kinase 1, gamma 3 isoform 1 74 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity 0 all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245) KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229) OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176) TTTCAATTAGGAGCCCATGAA 0.299 TRPC7 57113 broad.mit.edu 37 5 135693041 135693041 + Missense_Mutation SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr5:135693041C>T uc003lbn.1 - 1 35 c.32G>A c.(31-33)CGC>CAC p.R11H TRPC7_uc010jef.1_Missense_Mutation_p.R3H|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.R3H|TRPC7_uc010jei.1_Missense_Mutation_p.R3H|TRPC7_uc010jej.1_5'UTR NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, 12 Cytoplasmic (Potential). axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGTGTGCCGGCGCTGCATGTT 0.572 NDFIP1 80762 broad.mit.edu 37 5 141511419 141511419 + Missense_Mutation SNP A G G TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr5:141511419A>G uc003lmi.3 + 2 326 c.110A>G c.(109-111)GAT>GGT p.D37G NDFIP1_uc003lmj.1_Missense_Mutation_p.D37G NM_030571 NP_085048 Q9BT67 NFIP1_HUMAN Nedd4 family interacting protein 1 37 Cytoplasmic (Potential). cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm signal transducer activity 0 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGCAGGTGATGCTCCTCCA 0.408 GABRG2 2566 broad.mit.edu 37 5 161530925 161530925 + Missense_Mutation SNP A T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr5:161530925A>T uc003lyz.3 + 6 1020 c.662A>T c.(661-663)CAA>CTA p.Q221L GABRG2_uc010jjc.2_Missense_Mutation_p.Q261L|GABRG2_uc003lyy.3_Missense_Mutation_p.Q221L|GABRG2_uc011dej.1_Missense_Mutation_p.Q126L NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 221 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) ATTGTTTATCAATGGAAGCGA 0.388 BNIP1 662 broad.mit.edu 37 5 172585746 172585746 + Splice_Site SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr5:172585746G>A uc003mcj.3 + 4 374 c.270_splice c.e4-1 p.S90_splice BNIP1_uc003mci.3_Splice_Site_p.S133_splice|BNIP1_uc003mck.3_Intron|BNIP1_uc003mcl.3_Intron NM_001205 NP_001196 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kD interacting protein 1 anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex protein binding ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TCCAATTCCAGCAATCAGGCC 0.483 CDHR2 54825 broad.mit.edu 37 5 176004494 176004494 + Missense_Mutation SNP A G G TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr5:176004494A>G uc003mem.1 + 13 1355 c.1289A>G c.(1288-1290)CAG>CGG p.Q430R CDHR2_uc003men.1_Missense_Mutation_p.Q430R NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 430 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 GCCTCCGTTCAGGTGCTGGTG 0.672 DSP 1832 broad.mit.edu 37 6 7576615 7576615 + Missense_Mutation SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr6:7576615C>T uc003mxp.1 + 19 2998 c.2719C>T c.(2719-2721)CGC>TGC p.R907C DSP_uc003mxq.1_Missense_Mutation_p.R907C NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 907 Globular 1.|Spectrin 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TGATGCTAAACGCCGCCAGGA 0.423 TAP2 6891 broad.mit.edu 37 6 32798068 32798068 + Silent SNP A G G TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr6:32798068A>G uc003occ.2 - 8 1642 c.1611T>C c.(1609-1611)TAT>TAC p.Y537Y TAP2_uc011dqf.1_Silent_p.Y537Y|TAP2_uc003ocb.1_Silent_p.Y537Y|TAP2_uc003ocd.2_Silent_p.Y537Y NM_018833 NP_061313 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family 537 ABC transporter.|Cytoplasmic (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding 0 AGCAGTGTTCATACTGTGAGA 0.587 TREML2 79865 broad.mit.edu 37 6 41166078 41166078 + Missense_Mutation SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr6:41166078G>A uc010jxm.1 - 2 324 c.145C>T c.(145-147)CGC>TGC p.R49C NM_024807 NP_079083 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid 49 Ig-like V-type.|Extracellular (Potential). T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity ovary(1)|central_nervous_system(1) 2 Ovarian(28;0.0418)|Colorectal(47;0.196) CCCTCCACGCGGTTTTTGTAG 0.547 ABCC10 89845 broad.mit.edu 37 6 43417751 43417751 + Silent SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr6:43417751C>T uc003ouy.1 + 22 4616 c.4401C>T c.(4399-4401)CGC>CGT p.R1467R ABCC10_uc003ouz.1_Silent_p.R1439R|ABCC10_uc010jyo.1_Silent_p.R573R NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 1467 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CCACCCTGCGCAACCAGCCCC 0.642 ZDHHC4 55146 broad.mit.edu 37 7 6628405 6628405 + Missense_Mutation SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr7:6628405G>A uc003sqi.2 + 9 1257 c.899G>A c.(898-900)CGT>CAT p.R300H ZDHHC4_uc003sql.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqh.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqj.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqk.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqm.2_Missense_Mutation_p.R300H|uc011jwy.1_5'Flank|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank|C7orf26_uc003sqq.1_5'Flank NM_001134388 NP_001127860 Q9NPG8 ZDHC4_HUMAN zinc finger, DHHC-type containing 4 300 integral to membrane acyltransferase activity|zinc ion binding breast(1)|pancreas(1) 2 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) TGGTGCCAGCGTTGTCCCCTT 0.577 CALCR 799 broad.mit.edu 37 7 93108737 93108737 + Missense_Mutation SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr7:93108737C>T uc003umv.1 - 4 449 c.188G>A c.(187-189)CGA>CAA p.R63Q CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.R45Q|CALCR_uc003umw.2_Missense_Mutation_p.R45Q NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 45 Extracellular (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) CATCTTCTTTCGTCCTACGAC 0.403 RBM28 55131 broad.mit.edu 37 7 127979698 127979698 + Missense_Mutation SNP T C C TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr7:127979698T>C uc003vmp.2 - 2 381 c.266A>G c.(265-267)AAG>AGG p.K89R RBM28_uc011koj.1_Intron|RBM28_uc011kok.1_Missense_Mutation_p.K36R NM_018077 NP_060547 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 89 mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding ovary(2) 2 ATTTTTCCCCTTTTCCTTTGT 0.443 INTS10 55174 broad.mit.edu 37 8 19677962 19677962 + Missense_Mutation SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr8:19677962C>T uc003wzj.2 + 4 505 c.374C>T c.(373-375)ACG>ATG p.T125M NM_018142 NP_060612 Q9NVR2 INT10_HUMAN integrator complex subunit 10 125 snRNA processing integrator complex protein binding ovary(1) 1 Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215) TGCTTCAACACGTTAGAACGA 0.403 DCAF4L2 138009 broad.mit.edu 37 8 88886278 88886278 + Translation_Start_Site SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr8:88886278C>T uc003ydz.2 - 1 19 c.-78G>A c.(-80--76)TCGTG>TCATG NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C ovary(1) 1 TTTACAAGCACGACTTGGCAC 0.577 SLC25A32 81034 broad.mit.edu 37 8 104417070 104417070 + Missense_Mutation SNP A T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr8:104417070A>T uc003yll.2 - 3 628 c.325T>A c.(325-327)TAT>AAT p.Y109N SLC25A32_uc011lhr.1_Intron NM_030780 NP_110407 Q9H2D1 MFTC_HUMAN solute carrier family 25, member 32 109 Solcar 1. folic acid metabolic process|mitochondrial transport integral to membrane|mitochondrial inner membrane binding|folic acid transporter activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) Folic Acid(DB00158) TCTGTTTTATATGACTTGATG 0.353 Unknown 0 broad.mit.edu 37 9 90745328 90745328 + Missense_Mutation SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chr9:90745328G>A uc011lti.1 - 4 2653 c.2624C>T c.(2623-2625)GCC>GTC p.A875V uc004apx.1_5'Flank SubName: Full=cDNA FLJ59639; CACAACAGTGGCAGAAACTTG 0.537 KAL1 3730 broad.mit.edu 37 X 8555862 8555862 + Silent SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chrX:8555862G>A uc004csf.2 - 5 849 c.699C>T c.(697-699)GAC>GAT p.D233D NM_000216 NP_000207 P23352 KALM_HUMAN Kallmann syndrome 1 protein precursor 233 Fibronectin type-III 1. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity ovary(3)|pancreas(1) 4 AGTGAGTGGCGTCATCTTCGC 0.423 BEND2 139105 broad.mit.edu 37 X 18238990 18238990 + Translation_Start_Site SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chrX:18238990G>A uc004cyj.3 - 1 35 c.-119C>T c.(-121--117)AACGA>AATGA BEND2_uc010nfb.2_Translation_Start_Site NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 ovary(3)|kidney(1)|central_nervous_system(1) 5 GCGTACACTCGTTGTCCGAGG 0.647 ARHGEF9 23229 broad.mit.edu 37 X 62875413 62875413 + Missense_Mutation SNP T C C TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chrX:62875413T>C uc004dvl.2 - 8 2100 c.1261A>G c.(1261-1263)AGA>GGA p.R421G ARHGEF9_uc004dvj.1_Missense_Mutation_p.R310G|ARHGEF9_uc004dvk.1_Missense_Mutation_p.R239G|ARHGEF9_uc011mos.1_Missense_Mutation_p.R400G|ARHGEF9_uc004dvm.1_Missense_Mutation_p.R400G|ARHGEF9_uc011mot.1_Missense_Mutation_p.R368G|ARHGEF9_uc004dvn.2_Missense_Mutation_p.R428G NM_015185 NP_056000 O43307 ARHG9_HUMAN Cdc42 guanine exchange factor 9 421 PH. apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol Rho guanyl-nucleotide exchange factor activity ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 8 CTCTCTTCTCTGAAAGCCCTG 0.413 LAS1L 81887 broad.mit.edu 37 X 64749656 64749656 + Missense_Mutation SNP A T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chrX:64749656A>T uc004dwa.1 - 5 689 c.617T>A c.(616-618)ATA>AAA p.I206K LAS1L_uc004dwc.1_Missense_Mutation_p.I206K|LAS1L_uc004dwd.1_Missense_Mutation_p.I164K NM_031206 NP_112483 Q9Y4W2 LAS1L_HUMAN LAS1-like 206 MLL1 complex|nucleolus protein binding ovary(3)|large_intestine(1) 4 CTCTTCCTCTATCCCTTCCCT 0.488 MED12 9968 broad.mit.edu 37 X 70357763 70357763 + Missense_Mutation SNP C A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chrX:70357763C>A uc004dyy.2 + 41 6213 c.6014C>A c.(6013-6015)ACC>AAC p.T2005N MED12_uc011mpq.1_Missense_Mutation_p.T1980N|MED12_uc004dyz.2_Missense_Mutation_p.T2004N|MED12_uc004dza.2_Missense_Mutation_p.T1855N|MED12_uc010nla.2_Missense_Mutation_p.T634N NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 2005 Gln-rich.|Interaction with CTNNB1 and GLI3. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) CAGGCCCCCACCTATGGACAT 0.547 TBX22 50945 broad.mit.edu 37 X 79282236 79282236 + Silent SNP C A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chrX:79282236C>A uc010nmg.1 + 6 801 c.667C>A c.(667-669)CGA>AGA p.R223R TBX22_uc004edi.1_Silent_p.R103R|TBX22_uc004edj.1_Silent_p.R223R NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 223 T-box. multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 GTACAAACCCCGAGTGCACGT 0.453 KLHL4 56062 broad.mit.edu 37 X 86890583 86890583 + Missense_Mutation SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chrX:86890583G>A uc004efb.2 + 9 1915 c.1733G>A c.(1732-1734)CGT>CAT p.R578H KLHL4_uc004efa.2_Missense_Mutation_p.R578H NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 578 Kelch 4. cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 ATTGGTGGACGTGATGGAAGT 0.393 PCDH11X 27328 broad.mit.edu 37 X 91133806 91133806 + Missense_Mutation SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chrX:91133806C>T uc004efk.1 + 2 3412 c.2567C>T c.(2566-2568)ACC>ATC p.T856I PCDH11X_uc004efl.1_Missense_Mutation_p.T856I|PCDH11X_uc004efo.1_Missense_Mutation_p.T856I|PCDH11X_uc010nmv.1_Missense_Mutation_p.T856I|PCDH11X_uc004efm.1_Missense_Mutation_p.T856I|PCDH11X_uc004efn.1_Missense_Mutation_p.T856I|PCDH11X_uc004efh.1_Missense_Mutation_p.T856I|PCDH11X_uc004efj.1_Missense_Mutation_p.T856I NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 856 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 GAATGGGCTACCCCAAACCCA 0.368 TAF7L 54457 broad.mit.edu 37 X 100541563 100541563 + Missense_Mutation SNP G A A rs149116664 TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chrX:100541563G>A uc004ehb.2 - 3 415 c.403C>T c.(403-405)CCT>TCT p.P135S TAF7L_uc004eha.2_Missense_Mutation_p.P49S|TAF7L_uc004ehc.1_Missense_Mutation_p.P49S NM_024885 NP_079161 Q5H9L4 TAF7L_HUMAN TATA box binding protein-associated factor, RNA 135 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding breast(1) 1 AACTACTTACGCAATAAGTCA 0.204 ACSL4 2182 broad.mit.edu 37 X 108924259 108924259 + Nonsense_Mutation SNP G T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chrX:108924259G>T uc004eoi.2 - 7 1251 c.746C>A c.(745-747)TCA>TAA p.S249* ACSL4_uc004eoj.2_Nonsense_Mutation_p.S208*|ACSL4_uc004eok.2_Nonsense_Mutation_p.S208*|ACSL4_uc010npp.1_Nonsense_Mutation_p.S249* NM_022977 NP_075266 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 249 Cytoplasmic (Potential). fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity large_intestine(1)|lung(1)|ovary(1) 3 Icosapent(DB00159)|Troglitazone(DB00197) CTCTTCTACTGATTGCATGCT 0.333 UPF3B 65109 broad.mit.edu 37 X 118975081 118975084 + Frame_Shift_Del DEL TCTG - - rs142862074 byFrequency TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chrX:118975081_118975084delTCTG uc004erz.1 - 7 839_842 c.762_765delCAGA c.(760-765)GACAGAfs p.D254fs UPF3B_uc004esa.1_Frame_Shift_Del_p.D254fs NM_080632 NP_542199 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B 254_255 Sufficient for association with EJC core.|Necessary for interaction with UPF2. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding p.R255K(1) ovary(2)|kidney(1) 3 TTTCTGGAATTCTGTCTATCTTCT 0.191 DCAF12L1 139170 broad.mit.edu 37 X 125685564 125685564 + Missense_Mutation SNP G A A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chrX:125685564G>A uc004eul.2 - 1 1279 c.1028C>T c.(1027-1029)CCC>CTC p.P343L NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 343 skin(3)|ovary(1) 4 AGAACACAGGGGCCGGATGTT 0.602 MST4 51765 broad.mit.edu 37 X 131207025 131207025 + Missense_Mutation SNP C T T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a4083f8b-0c39-4d65-a372-b494caf84f8d e66a84ab-f82a-4b35-a820-29122856f23e g.chrX:131207025C>T uc004ewk.1 + 11 1431 c.1130C>T c.(1129-1131)GCG>GTG p.A377V MST4_uc004ewl.1_Missense_Mutation_p.A300V|MST4_uc011mux.1_Missense_Mutation_p.A399V|MST4_uc010nrj.1_Missense_Mutation_p.A353V|MST4_uc004ewm.1_Missense_Mutation_p.A315V NM_016542 NP_057626 Q9P289 MST4_HUMAN serine/threonine protein kinase MST4 isoform 1 377 cellular component disassembly involved in apoptosis|regulation of apoptosis cytosol|Golgi membrane ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(3)|stomach(2)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(192;0.000127) AGGAATCAGGCGATTGAAGAA 0.358