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 PRDM16 63976 broad.mit.edu 37 1 3319509 3319509 + Silent SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr1:3319509C>T uc001akf.2 + 6 911 c.831C>T c.(829-831)AGC>AGT p.S277S PRDM16_uc001akc.2_Silent_p.S277S|PRDM16_uc001akd.2_Silent_p.S277S|PRDM16_uc001ake.2_Silent_p.S277S|PRDM16_uc009vlh.2_5'UTR NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 277 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GCGGTGGCAGCGGCCAAGCCC 0.567 T EVI1 MDS|AML ARID1A 8289 broad.mit.edu 37 1 27023420 27023420 + Nonsense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr1:27023420C>T uc001bmv.1 + 1 899 c.526C>T c.(526-528)CAA>TAA p.Q176* ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q176*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q176* NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 176 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) ACATGGCGGACAACAAAGCCC 0.731 Mis|N|F|S|D clear cell ovarian carcinoma|RCC SFPQ 6421 broad.mit.edu 37 1 35657111 35657111 + Missense_Mutation SNP G G C TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr1:35657111G>C uc001bys.2 - 2 941 c.848C>G c.(847-849)TCT>TGT p.S283C SFPQ_uc001byr.2_5'Flank NM_005066 NP_005057 P23246 SFPQ_HUMAN splicing factor proline/glutamine rich 283 alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|nucleotide binding|protein binding|protein binding|RNA binding SFPQ/TFE3(6) kidney(4)|soft_tissue(2)|ovary(1)|skin(1) 8 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) CCTCAAGAGAGACAAATTGGC 0.408 T TFE3 papillary renal cell ZYG11B 79699 broad.mit.edu 37 1 53261986 53261986 + Missense_Mutation SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr1:53261986A>G uc001cuj.2 + 7 1552 c.1357A>G c.(1357-1359)ATG>GTG p.M453V ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Missense_Mutation_p.M444V|ZYG11B_uc009vzh.2_5'Flank NM_024646 NP_078922 Q9C0D3 ZY11B_HUMAN zyg-11 homolog B 453 protein binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 CAAGCTTGTCATGCAGTGGCT 0.448 SPAG17 200162 broad.mit.edu 37 1 118581983 118581983 + Missense_Mutation SNP T T C TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr1:118581983T>C uc001ehk.2 - 23 3319 c.3251A>G c.(3250-3252)AAG>AGG p.K1084R NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1084 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TTTCTCTTCCTTTTTCACAAT 0.378 TCHH 7062 broad.mit.edu 37 1 152084596 152084596 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr1:152084596C>T uc001ezp.2 - 2 1097 c.1097G>A c.(1096-1098)CGC>CAC p.R366H TCHH_uc009wne.1_Missense_Mutation_p.R366H NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 366 5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.|1-5. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ctcctgctcgcgcctcagctg 0 RNASEL 6041 broad.mit.edu 37 1 182555204 182555204 + Silent SNP T T G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr1:182555204T>G uc001gpj.1 - 1 905 c.738A>C c.(736-738)GCA>GCC p.A246A RNASEL_uc009wxz.1_Silent_p.A246A|RNASEL_uc001gpk.2_Silent_p.A246A|RNASEL_uc009wya.1_Silent_p.A246A NM_021133 NP_066956 Q05823 RN5A_HUMAN ribonuclease L 246 ANK 7. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding ovary(4)|stomach(1) 5 TCTTCTCCACTGCCAGGATCA 0.517 Hereditary_Prostate_Cancer FAM5C 339479 broad.mit.edu 37 1 190067820 190067820 + Missense_Mutation SNP C C G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr1:190067820C>G uc001gse.1 - 8 1861 c.1629G>C c.(1627-1629)AAG>AAC p.K543N FAM5C_uc010pot.1_Missense_Mutation_p.K441N NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 543 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) CCAGACTTGACTTGTACTTAT 0.448 OBSCN 84033 broad.mit.edu 37 1 228469665 228469665 + Silent SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr1:228469665G>A uc009xez.1 + 31 8273 c.8229G>A c.(8227-8229)AAG>AAA p.K2743K OBSCN_uc001hsn.2_Silent_p.K2743K|OBSCN_uc001hsp.1_Silent_p.K442K|OBSCN_uc001hsq.1_5'UTR NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 2743 Ig-like 27. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) AGAGGCTGAAGACAATGGAGG 0.617 CUBN 8029 broad.mit.edu 37 10 16996518 16996518 + Silent SNP G G T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr10:16996518G>T uc001ioo.2 - 32 4777 c.4725C>A c.(4723-4725)TCC>TCA p.S1575S NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1575 CUB 10. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGGCAAGGCGGGACATTGTGG 0.522 RET 5979 broad.mit.edu 37 10 43600608 43600608 + Silent SNP C C T rs41306550 TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr10:43600608C>T uc001jal.2 + 4 1024 c.834C>T c.(832-834)ACC>ACT p.T278T RET_uc001jak.1_Silent_p.T278T|RET_uc010qez.1_Silent_p.T24T NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 278 Extracellular (Potential). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity p.T278N(2) thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) GCGTCGACACCGCCAGCGCCG 0.687 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma GRID1 2894 broad.mit.edu 37 10 87484322 87484322 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr10:87484322C>T uc001kdl.1 - 11 1746 c.1645G>A c.(1645-1647)GAG>AAG p.E549K GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.E120K NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 549 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) ATTTTCTCCTCGGGCTTCTTA 0.512 Multiple Myeloma(13;0.14) ENTPD7 57089 broad.mit.edu 37 10 101458523 101458523 + Missense_Mutation SNP T T G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr10:101458523T>G uc001kqa.3 + 10 1421 c.1243T>G c.(1243-1245)TTC>GTC p.F415V ENTPD7_uc009xwl.2_Missense_Mutation_p.F417V NM_020354 NP_065087 Q9NQZ7 ENTP7_HUMAN ectonucleoside triphosphate diphosphohydrolase 415 Vesicular (Potential). cytoplasmic vesicle membrane|integral to membrane hydrolase activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.75e-08) CAACAGCGAGTTCTACGGCTT 0.507 DPYSL4 10570 broad.mit.edu 37 10 134016171 134016171 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr10:134016171G>A uc009ybb.2 + 12 1457 c.1303G>A c.(1303-1305)GAG>AAG p.E435K NM_006426 NP_006417 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 435 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides central_nervous_system(2) 2 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) CAACATCTTCGAGGGAGTGGA 0.667 OR51F1 256892 broad.mit.edu 37 11 4790243 4790243 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr11:4790243C>T uc010qyl.1 - 1 905 c.905G>A c.(904-906)CGC>CAC p.R302H NM_001004752 NP_001004752 A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, 302 integral to membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) CATAGCCTTGCGGATTTGTTT 0.433 OR52H1 390067 broad.mit.edu 37 11 5565982 5565982 + Missense_Mutation SNP T T A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr11:5565982T>A uc010qzh.1 - 1 772 c.772A>T c.(772-774)ATG>TTG p.M258L HBG2_uc001mak.1_Intron NM_001005289 NP_001005289 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, 258 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTATAAAACATGAGGATGACA 0.493 MRPL17 63875 broad.mit.edu 37 11 6703464 6703464 + Missense_Mutation SNP C C G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr11:6703464C>G uc001men.2 - 3 518 c.413G>C c.(412-414)AGA>ACA p.R138T NM_022061 NP_071344 Q9NRX2 RM17_HUMAN mitochondrial ribosomal protein L17 precursor 138 translation ribosome protein domain specific binding|structural constituent of ribosome 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GTGGCTGTCTCTGCGAGGCAG 0.557 E2F8 79733 broad.mit.edu 37 11 19256429 19256429 + Nonsense_Mutation SNP T T A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr11:19256429T>A uc001mpm.2 - 5 1150 c.628A>T c.(628-630)AAA>TAA p.K210* E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Nonsense_Mutation_p.K210* NM_024680 NP_078956 A0AVK6 E2F8_HUMAN E2F family member 8 210 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 TCTTTCTTTTTGATCATCATA 0.428 RAPSN 5913 broad.mit.edu 37 11 47463391 47463391 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr11:47463391C>T uc001nfi.1 - 4 987 c.773G>A c.(772-774)AGC>AAC p.S258N RAPSN_uc001nfj.1_Missense_Mutation_p.S258N|RAPSN_uc009yls.1_Missense_Mutation_p.S258N NM_005055 NP_005046 Q13702 RAPSN_HUMAN 43 kD receptor-associated protein of the synapse 258 TPR 6. synaptic transmission, cholinergic cell junction|cytoskeleton|postsynaptic membrane acetylcholine receptor binding|zinc ion binding ovary(1) 1 GTCCCCACGGCTCCGGTGGAT 0.682 OSBP 5007 broad.mit.edu 37 11 59344413 59344413 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr11:59344413G>A uc001noc.1 - 13 2626 c.2146C>T c.(2146-2148)CGG>TGG p.R716W OSBP_uc009ymr.1_RNA NM_002556 NP_002547 P22059 OSBP1_HUMAN oxysterol binding protein 716 lipid transport Golgi membrane oxysterol binding large_intestine(1) 1 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) GGTCGTAACCGGCTGTCTGTG 0.483 RPS3 6188 broad.mit.edu 37 11 75115769 75115769 + Missense_Mutation SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr11:75115769A>G uc001owh.2 + 6 622 c.592A>G c.(592-594)ATT>GTT p.I198V RPS3_uc001owi.2_Missense_Mutation_p.I198V|RPS3_uc001owk.1_Missense_Mutation_p.I72V NM_001005 NP_000996 P23396 RS3_HUMAN ribosomal protein S3 198 activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleus|ruffle membrane damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome 0 AACTGGTAAGATTGGCCCTAA 0.562 DSCAML1 57453 broad.mit.edu 37 11 117376176 117376176 + Silent SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr11:117376176G>A uc001prh.1 - 9 2237 c.2235C>T c.(2233-2235)ATC>ATT p.I745I NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 685 Extracellular (Potential).|Ig-like C2-type 7. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CACCACGCACGATGAGCTGGC 0.582 WNK1 65125 broad.mit.edu 37 12 990059 990059 + Missense_Mutation SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr12:990059A>G uc001qio.3 + 12 3512 c.3005A>G c.(3004-3006)AAT>AGT p.N1002S WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1002 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GTGGAATCAAATCTTTTAGTT 0.517 CLEC12A 160364 broad.mit.edu 37 12 10133333 10133333 + Splice_Site SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr12:10133333G>A uc001qwr.3 + 4 719 c.531_splice c.e4+1 p.L177_splice CLEC12A_uc001qwq.2_Splice_Site_p.L187_splice|CLEC12A_uc001qws.3_Splice_Site_p.L144_splice|CLEC12A_uc001qwt.2_Splice_Site_p.L106_splice NM_138337 NP_612210 Q5QGZ9 CL12A_HUMAN myeloid inhibitory C-type lectin-like receptor integral to membrane|plasma membrane receptor activity|sugar binding skin(1) 1 AAATGCATTGGTAAAGCCCAG 0.433 ALG10B 144245 broad.mit.edu 37 12 38714279 38714279 + Missense_Mutation SNP A A T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr12:38714279A>T uc001rln.3 + 3 825 c.686A>T c.(685-687)GAA>GTA p.E229V ALG10B_uc001rlo.3_Missense_Mutation_p.E199V|ALG10B_uc010skk.1_Missense_Mutation_p.E169V NM_001013620 NP_001013642 Q5I7T1 AG10B_HUMAN asparagine-linked glycosylation 10 homolog B 229 Cytoplasmic (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity ovary(2)|skin(1) 3 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) CCATTTGCAGAATTCAGAAAA 0.383 SCN8A 6334 broad.mit.edu 37 12 52115568 52115568 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr12:52115568G>A uc001ryw.2 + 12 2052 c.1874G>A c.(1873-1875)CGC>CAC p.R625H SCN8A_uc010snl.1_Missense_Mutation_p.R490H|SCN8A_uc001ryx.1_Missense_Mutation_p.R490H|SCN8A_uc001ryz.1_Missense_Mutation_p.R490H|SCN8A_uc001ryy.2_Missense_Mutation_p.R490H NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 625 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) CAGGGCAGCCGCTCCTCGCGC 0.637 APPL2 55198 broad.mit.edu 37 12 105597491 105597491 + Missense_Mutation SNP T T C TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr12:105597491T>C uc001tlf.1 - 9 912 c.694A>G c.(694-696)ATG>GTG p.M232V APPL2_uc010swt.1_Missense_Mutation_p.M189V|APPL2_uc001tlg.1_5'UTR|APPL2_uc010swu.1_Missense_Mutation_p.M238V|APPL2_uc009zuq.2_Missense_Mutation_p.M189V NM_018171 NP_060641 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH 232 Required for RAB5A binding (By similarity). cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding upper_aerodigestive_tract(1) 1 CTTTGAACCATGTCTGCAACG 0.443 FRY 10129 broad.mit.edu 37 13 32811574 32811574 + Nonsense_Mutation SNP G G T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr13:32811574G>T uc001utx.2 + 44 6365 c.5869G>T c.(5869-5871)GGA>TGA p.G1957* FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 1957 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) AAAGAGCACAGGACAACTAAA 0.473 KBTBD6 89890 broad.mit.edu 37 13 41706551 41706551 + Missense_Mutation SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr13:41706551A>G uc001uxu.1 - 1 386 c.97T>C c.(97-99)TTT>CTT p.F33L KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.F33L|uc001uxv.1_5'Flank NM_152903 NP_690867 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain-containing 6 33 protein binding ovary(1)|skin(1) 2 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) CCCGTGAAAAAGGCCGAAACT 0.607 RASA3 22821 broad.mit.edu 37 13 114795308 114795308 + Missense_Mutation SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr13:114795308A>G uc001vui.2 - 5 559 c.428T>C c.(427-429)GTC>GCC p.V143A RASA3_uc010tkk.1_Missense_Mutation_p.V111A|RASA3_uc001vuj.2_5'UTR|RASA3_uc010tkl.1_RNA|RASA3_uc010aha.1_RNA NM_007368 NP_031394 Q14644 RASA3_HUMAN RAS p21 protein activator 3 143 C2 2. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity lung(3)|skin(1) 4 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) CTTGTGGCAGACGACCCCAGT 0.622 SYNE2 23224 broad.mit.edu 37 14 64484436 64484436 + Missense_Mutation SNP T T A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr14:64484436T>A uc001xgm.2 + 34 5241 c.5011T>A c.(5011-5013)TTA>ATA p.L1671I SYNE2_uc001xgl.2_Missense_Mutation_p.L1671I NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1671 Cytoplasmic (Potential).|Potential. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AAAAATGGAATTACATCAATT 0.323 MTA1 9112 broad.mit.edu 37 14 105931113 105931113 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr14:105931113C>T uc001yqx.2 + 15 1634 c.1447C>T c.(1447-1449)CGG>TGG p.R483W MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Missense_Mutation_p.R244W NM_004689 NP_004680 Q13330 MTA1_HUMAN metastasis associated protein 483 signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1) 2 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) GCGGATCGCCCGGCGCCTGTG 0.677 C15orf2 23742 broad.mit.edu 37 15 24922918 24922918 + Missense_Mutation SNP T T C TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr15:24922918T>C uc001ywo.2 + 1 2378 c.1904T>C c.(1903-1905)TTT>TCT p.F635S NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 635 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) ACCCCAAGTTTTAACCAACTC 0.493 LCMT2 9836 broad.mit.edu 37 15 43621365 43621365 + Silent SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr15:43621365A>G uc001zrg.2 - 1 1527 c.1323T>C c.(1321-1323)AGT>AGC p.S441S LCMT2_uc010udn.1_Silent_p.S20S|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank NM_014793 NP_055608 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 441 tRNA processing methyltransferase activity|protein binding 0 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;8.1e-07) L-Leucine(DB00149) CCAAGGCTGGACTTACTGGGG 0.493 ARID3B 10620 broad.mit.edu 37 15 74882324 74882324 + Silent SNP C C G rs144245237 byFrequency TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr15:74882324C>G uc002aye.2 + 5 1062 c.861C>G c.(859-861)GCC>GCG p.A287A ARID3B_uc002ayd.2_Silent_p.A287A|ARID3B_uc010bjs.1_5'Flank NM_006465 NP_006456 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B 287 ARID.|Interaction with RB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 TCACCAGCGCCGCCTTCACCC 0.572 CSPG4 1464 broad.mit.edu 37 15 75980584 75980584 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr15:75980584C>T uc002baw.2 - 3 2915 c.2822G>A c.(2821-2823)CGC>CAC p.R941H NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 941 Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|CSPG 5.|Interaction with COL6A2 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 CCTCCCATGGCGGGGCCGCTC 0.582 CHD2 1106 broad.mit.edu 37 15 93524598 93524598 + Missense_Mutation SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr15:93524598A>G uc002bsp.2 + 24 3552 c.2977A>G c.(2977-2979)ATG>GTG p.M993V CHD2_uc002bso.1_Missense_Mutation_p.M993V NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 993 Glu-rich. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) CTTTTAGGAAATGGATATAGA 0.358 ABCC12 94160 broad.mit.edu 37 16 48167651 48167651 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr16:48167651C>T uc002efc.1 - 7 1421 c.1075G>A c.(1075-1077)GTG>ATG p.V359M ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.V359M|ABCC12_uc010vgj.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 359 ABC transmembrane type-1 1.|Helical; (Potential). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) AATGTCAGCACGATGGCTATG 0.527 ABCC11 85320 broad.mit.edu 37 16 48226539 48226539 + Silent SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr16:48226539G>A uc002eff.1 - 19 2948 c.2598C>T c.(2596-2598)TAC>TAT p.Y866Y ABCC11_uc002efg.1_Silent_p.Y866Y|ABCC11_uc002efh.1_Silent_p.Y866Y|ABCC11_uc010vgk.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 866 Helical; (Potential).|ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CGTTGAGCCCGTACACCAGCT 0.552 Cerumen_Type SLC12A4 6560 broad.mit.edu 37 16 67980104 67980104 + Missense_Mutation SNP C C A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr16:67980104C>A uc002euz.2 - 19 2718 c.2577G>T c.(2575-2577)ATG>ATT p.M859I LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Missense_Mutation_p.M853I|SLC12A4_uc010vkh.1_Missense_Mutation_p.M828I|SLC12A4_uc010vki.1_Missense_Mutation_p.M859I|SLC12A4_uc010vkj.1_Missense_Mutation_p.M861I|SLC12A4_uc002eva.2_Missense_Mutation_p.M859I|SLC12A4_uc010cev.1_RNA NM_005072 NP_005063 Q9UP95 S12A4_HUMAN solute carrier family 12, member 4 isoform a 859 Helical; (Potential). cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) AGGGCAGAAGCATGAGCATGC 0.612 CIRH1A 84916 broad.mit.edu 37 16 69201031 69201031 + Silent SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr16:69201031A>G uc002ews.3 + 16 1983 c.1887A>G c.(1885-1887)GAA>GAG p.E629E CIRH1A_uc002ewr.2_3'UTR|CIRH1A_uc002ewt.3_Silent_p.E546E|CIRH1A_uc010cfi.2_Silent_p.E431E NM_032830 NP_116219 Q969X6 CIR1A_HUMAN cirhin 629 nucleolus protein binding 0 OV - Ovarian serous cystadenocarcinoma(108;0.125) CCACGAATGAATCAGATGTCA 0.363 ASGR2 433 broad.mit.edu 37 17 7005041 7005041 + Missense_Mutation SNP C C A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr17:7005041C>A uc002gep.3 - 9 1054 c.789G>T c.(787-789)CAG>CAT p.Q263H ASGR2_uc010vtk.1_Missense_Mutation_p.Q100H|ASGR2_uc002gem.1_Missense_Mutation_p.Q202H|ASGR2_uc002gen.1_Missense_Mutation_p.Q244H|ASGR2_uc002geo.1_Missense_Mutation_p.Q258H|ASGR2_uc002ger.3_Missense_Mutation_p.Q263H|ASGR2_uc002geq.3_Missense_Mutation_p.Q239H NM_001181 NP_001172 P07307 ASGR2_HUMAN asialoglycoprotein receptor 2 isoform a 263 C-type lectin.|Extracellular (Potential). cell surface receptor linked signaling pathway|endocytosis focal adhesion|integral to membrane|nucleolus asialoglycoprotein receptor activity|protein binding|sugar binding ovary(1) 1 Antihemophilic Factor(DB00025) AATTATCTGGCTGAGTGACAG 0.552 ALDH3A2 224 broad.mit.edu 37 17 19559856 19559856 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr17:19559856G>A uc002gwb.1 + 4 870 c.649G>A c.(649-651)GAT>AAT p.D217N ALDH3A2_uc002gwa.1_Missense_Mutation_p.D217N|ALDH3A2_uc010cqr.1_Missense_Mutation_p.D24N|ALDH3A2_uc002gwc.1_Missense_Mutation_p.D217N|ALDH3A2_uc002gwd.1_Missense_Mutation_p.D24N NM_000382 NP_000373 P51648 AL3A2_HUMAN aldehyde dehydrogenase 3A2 isoform 2 217 Cytoplasmic. cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development endoplasmic reticulum membrane|integral to membrane 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase ovary(2) 2 all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245) NADH(DB00157) ATGTTATATTGATAAAGATTG 0.458 KCNJ12 3768 broad.mit.edu 37 17 21318895 21318895 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr17:21318895C>T uc002gyv.1 + 3 946 c.241C>T c.(241-243)CGG>TGG p.R81W NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 81 Helical; Name=M1; (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) CATCCGCTGGCGGTACATGCT 0.577 Prostate(3;0.18) WFIKKN2 124857 broad.mit.edu 37 17 48917272 48917272 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr17:48917272C>T uc002isv.3 + 2 1317 c.623C>T c.(622-624)GCG>GTG p.A208V WFIKKN2_uc010dbu.2_Missense_Mutation_p.A115V NM_175575 NP_783165 Q8TEU8 WFKN2_HUMAN WFIKKN2 protein 208 extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) CTGGACATGGCGGCCCCTGCG 0.652 SFRS1 6426 broad.mit.edu 37 17 56084463 56084463 + Silent SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr17:56084463C>T uc002ivi.2 - 1 245 c.36G>A c.(34-36)GGG>GGA p.G12G SFRS1_uc002ivj.2_Silent_p.G12G NM_006924 NP_008855 Q07955 SRSF1_HUMAN splicing factor, arginine/serine-rich 1 isoform 12 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytoplasm|nuclear speck nucleotide binding|RNA binding 0 Colorectal(1115;0.0691) LUAD - Lung adenocarcinoma(1115;0.247) AATCGTTGTTCCCTGCGGGGC 0.587 OR4D2 124538 broad.mit.edu 37 17 56247498 56247498 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr17:56247498C>T uc010wnp.1 + 1 482 c.482C>T c.(481-483)GCT>GTT p.A161V NM_001004707 NP_001004707 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, 161 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 GTCCAGCTGGCTCTGATGCTC 0.567 EPX 8288 broad.mit.edu 37 17 56271430 56271430 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr17:56271430C>T uc002ivq.2 + 5 657 c.571C>T c.(571-573)CGC>TGC p.R191C NM_000502 NP_000493 P11678 PERE_HUMAN eosinophil peroxidase preproprotein 191 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding ovary(2) 2 CAGCAGGAGGCGCAATGGCTT 0.517 SCAMP4 113178 broad.mit.edu 37 19 1918891 1918891 + Silent SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr19:1918891C>T uc002luj.2 + 5 404 c.297C>T c.(295-297)GCC>GCT p.A99A SCAMP4_uc002lui.1_Silent_p.A99A|SCAMP4_uc002luk.2_Intron|SCAMP4_uc010dss.2_Silent_p.A55A NM_079834 NP_524558 Q969E2 SCAM4_HUMAN secretory carrier membrane protein 4 99 protein transport integral to membrane 0 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCCCAGAGCCGACAGCTCCT 0.587 PLIN4 729359 broad.mit.edu 37 19 4504699 4504699 + Silent SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr19:4504699G>A uc002mar.1 - 6 3846 c.3846C>T c.(3844-3846)GCC>GCT p.A1282A PLIN4_uc010dub.1_Silent_p.A306A NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN plasma membrane associated protein, S3-12 1282 lipid particle|plasma membrane 0 GCTGGAGCTCGGCGGGCAGGC 0.701 MUC16 94025 broad.mit.edu 37 19 9059719 9059719 + Missense_Mutation SNP C C A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr19:9059719C>A uc002mkp.2 - 3 27931 c.27727G>T c.(27727-27729)GCT>TCT p.A9243S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9245 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ACTGAGTCAGCTAGGACAGAG 0.463 ZNF426 79088 broad.mit.edu 37 19 9639881 9639881 + Silent SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr19:9639881G>A uc002mlq.2 - 8 1104 c.840C>T c.(838-840)TAC>TAT p.Y280Y ZNF426_uc010dws.2_Silent_p.Y242Y NM_024106 NP_077011 Q9BUY5 ZN426_HUMAN zinc finger protein 426 280 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CCTTACATTTGTAGGGCTTTT 0.418 PPAN-P2RY11 692312 broad.mit.edu 37 19 10225259 10225259 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr19:10225259G>A uc002mna.2 + 13 2230 c.2230G>A c.(2230-2232)GCA>ACA p.A744T PPAN-P2RY11_uc010xla.1_3'UTR|P2RY11_uc002mnc.2_Missense_Mutation_p.A324T NM_001040664 NP_001035754 Q9NQ55 SSF1_HUMAN PPAN-P2RY11 protein Error:Variant_position_missing_in_Q9NQ55_after_alignment RNA splicing nucleolus protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) CTACATGGCCGCAGTGCCCAG 0.677 CYP4F3 4051 broad.mit.edu 37 19 15763705 15763705 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr19:15763705G>A uc002nbj.2 + 9 1108 c.1058G>A c.(1057-1059)CGC>CAC p.R353H CYP4F3_uc010xok.1_Missense_Mutation_p.R353H|CYP4F3_uc010xol.1_Missense_Mutation_p.R353H|CYP4F3_uc010xom.1_Missense_Mutation_p.R204H|CYP4F3_uc002nbk.2_Missense_Mutation_p.R353H|CYP4F3_uc010xon.1_Missense_Mutation_p.R63H NM_000896 NP_000887 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, 353 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding ovary(3) 3 TACCAGGAGCGCTGTCGGCAG 0.592 PGPEP1 54858 broad.mit.edu 37 19 18468415 18468415 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr19:18468415G>A uc002nis.1 + 4 511 c.427G>A c.(427-429)GAT>AAT p.D143N PGPEP1_uc002nir.1_RNA|PGPEP1_uc002nit.1_Missense_Mutation_p.D66N|PGPEP1_uc010xqg.1_Missense_Mutation_p.D66N NM_017712 NP_060182 Q9NXJ5 PGPI_HUMAN pyroglutamyl-peptidase I 143 cysteine-type peptidase activity 0 CATCTCGCAGGATGCCGGCAG 0.602 FCGBP 8857 broad.mit.edu 37 19 40433845 40433845 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr19:40433845C>T uc002omp.3 - 2 432 c.424G>A c.(424-426)GAG>AAG p.E142K NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 142 IgGFc-binding. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ACAAAATACTCGGTGCCTAGG 0.602 DPRX 503834 broad.mit.edu 37 19 54137863 54137863 + Missense_Mutation SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr19:54137863A>G uc002qcf.1 + 2 158 c.107A>G c.(106-108)AAT>AGT p.N36S NM_001012728 NP_001012746 A6NFQ7 DPRX_HUMAN divergent-paired related homeobox 36 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) ATCTTGTTCAATGAGAACCCA 0.443 ZNF835 90485 broad.mit.edu 37 19 57175194 57175194 + Missense_Mutation SNP C C A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr19:57175194C>A uc010ygo.1 - 2 1439 c.1439G>T c.(1438-1440)CGC>CTC p.R480L ZNF835_uc010ygn.1_Missense_Mutation_p.R458L NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 CAGGTAGGAGCGGTTGCTGAA 0.667 ROCK2 9475 broad.mit.edu 37 2 11427816 11427816 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr2:11427816C>T uc002rbd.1 - 2 637 c.188G>A c.(187-189)AGG>AAG p.R63K NM_004850 NP_004841 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein 63 axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity stomach(2)|skin(2) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) CTTGTTTTTCCTCAAAGCAGG 0.279 ZNF514 84874 broad.mit.edu 37 2 95815288 95815288 + Silent SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr2:95815288C>T uc002sue.1 - 5 1316 c.942G>A c.(940-942)AAG>AAA p.K314K ZNF514_uc002sud.1_Silent_p.K387K NM_032788 NP_116177 Q96K75 ZN514_HUMAN zinc finger protein 514 314 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATTCATAGGGCTTTTCTCCAG 0.428 FBLN7 129804 broad.mit.edu 37 2 112940381 112940381 + Silent SNP T T C TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr2:112940381T>C uc002tho.1 + 6 955 c.684T>C c.(682-684)TGT>TGC p.C228C FBLN7_uc002thn.2_Silent_p.C228C|FBLN7_uc010fki.1_Silent_p.C182C|FBLN7_uc010fkj.1_Intron NM_153214 NP_694946 Q53RD9 FBLN7_HUMAN fibulin 7 isoform 1 228 EGF-like 2; calcium-binding (Potential). cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding ovary(1)|central_nervous_system(1) 2 TGAACGAGTGTGAGCTCTACG 0.592 NR4A2 4929 broad.mit.edu 37 2 157184976 157184976 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr2:157184976G>A uc002tyz.3 - 4 1356 c.934C>T c.(934-936)CGG>TGG p.R312W NR4A2_uc002tyx.3_Missense_Mutation_p.R249W|NR4A2_uc010zcf.1_Missense_Mutation_p.R312W|NR4A2_uc010zcg.1_5'Flank NM_006186 NP_006177 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 312 NR C4-type.|Nuclear receptor. cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(3) 3 CAGCGATTCCGGCGACGCTTG 0.493 TTN 7273 broad.mit.edu 37 2 179438575 179438575 + Missense_Mutation SNP C C A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr2:179438575C>A uc010zfg.1 - 275 64804 c.64580G>T c.(64579-64581)AGG>ATG p.R21527M uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R15222M|TTN_uc010zfi.1_Missense_Mutation_p.R15155M|TTN_uc010zfj.1_Missense_Mutation_p.R15030M NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22454 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) ACCACTATCCCTTCTTGTTGA 0.413 FAM171B 165215 broad.mit.edu 37 2 187611822 187611822 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr2:187611822C>T uc002ups.2 + 4 681 c.569C>T c.(568-570)GCC>GTC p.A190V FAM171B_uc002upr.1_Missense_Mutation_p.A190V NM_177454 NP_803237 Q6P995 F171B_HUMAN KIAA1946 190 Extracellular (Potential). integral to membrane DNA binding ovary(6)|breast(3)|central_nervous_system(1) 10 TTTCCAGATGCCAAGTCTCAA 0.353 STAT1 6772 broad.mit.edu 37 2 191843630 191843630 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr2:191843630C>T uc002usj.2 - 21 2213 c.1825G>A c.(1825-1827)GAA>AAA p.E609K STAT1_uc010fse.1_Missense_Mutation_p.E609K|STAT1_uc002usk.2_Missense_Mutation_p.E609K|STAT1_uc002usl.2_Missense_Mutation_p.E611K NM_007315 NP_009330 P42224 STAT1_HUMAN signal transducer and activator of transcription 609 SH2. activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) ATGGCCCCTTCCCGGGAGCTC 0.602 DNAH7 56171 broad.mit.edu 37 2 196825327 196825327 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr2:196825327G>A uc002utj.3 - 18 2649 c.2548C>T c.(2548-2550)CGC>TGC p.R850C NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 850 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TGCCTGGGGCGCAAACCAGGA 0.453 ALS2CR8 79800 broad.mit.edu 37 2 203846292 203846292 + Nonsense_Mutation SNP G G T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr2:203846292G>T uc002uzo.2 + 14 1853 c.1573G>T c.(1573-1575)GAA>TAA p.E525* ALS2CR8_uc010zia.1_Nonsense_Mutation_p.E449*|ALS2CR8_uc010zib.1_Nonsense_Mutation_p.E449*|ALS2CR8_uc010zic.1_Nonsense_Mutation_p.E437*|ALS2CR8_uc002uzp.2_Nonsense_Mutation_p.E525* NM_001104586 NP_001098056 Q8N187 AL2S8_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 525 large_intestine(1)|ovary(1) 2 TTCACCAGGAGAATCAATTAC 0.348 SLC11A1 6556 broad.mit.edu 37 2 219251382 219251382 + Missense_Mutation SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr2:219251382A>G uc002vhv.2 + 5 758 c.418A>G c.(418-420)ACC>GCC p.T140A SLC11A1_uc010zkb.1_Nonstop_Mutation_p.*164W|SLC11A1_uc010fvp.1_Missense_Mutation_p.T140A|SLC11A1_uc010fvq.1_Missense_Mutation_p.T73A|SLC11A1_uc010zkc.1_Missense_Mutation_p.T73A|SLC11A1_uc002vhu.1_5'UTR|SLC11A1_uc002vhw.2_Missense_Mutation_p.T22A|SLC11A1_uc010fvr.2_5'UTR NM_000578 NP_000569 P49279 NRAM1_HUMAN natural resistance-associated macrophage protein 140 Cytoplasmic (Potential). activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity ovary(3)|central_nervous_system(1) 4 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTCTGGCTGACCATCGAGCT 0.567 U2AF1 7307 broad.mit.edu 37 21 44514611 44514611 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr21:44514611C>T uc002zda.1 - 7 629 c.545G>A c.(544-546)CGG>CAG p.R182Q U2AF1_uc002zcy.1_Missense_Mutation_p.R109Q|U2AF1_uc002zcz.1_Missense_Mutation_p.R109Q|U2AF1_uc002zdb.1_Missense_Mutation_p.R182Q|U2AF1_uc010gpi.1_Missense_Mutation_p.R182Q NM_001025203 NP_001020374 Q01081 U2AF1_HUMAN U2 small nuclear RNA auxillary factor 1 isoform 182 Arg/Gly/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding 0 CAGCTCCCGCCGCAGCTCTCT 0.547 LGALS2 3957 broad.mit.edu 37 22 37966653 37966653 + Missense_Mutation SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr22:37966653A>G uc003ata.2 - 3 291 c.179T>C c.(178-180)TTG>TCG p.L60S NM_006498 NP_006489 P05162 LEG2_HUMAN lectin, galactoside-binding, soluble, 2 60 Galectin. breast(1)|skin(1) 2 Melanoma(58;0.0574) GCTGCCGTCCAATGAGTTGCA 0.547 LAMB2 3913 broad.mit.edu 37 3 49160321 49160321 + Silent SNP C C A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr3:49160321C>A uc003cwe.2 - 27 4688 c.4389G>T c.(4387-4389)CTG>CTT p.L1463L USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank NM_002292 NP_002283 P55268 LAMB2_HUMAN laminin, beta 2 precursor 1463 Domain I. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GTGCCCGCTGCAGCTCTGCCT 0.682 ABHD10 55347 broad.mit.edu 37 3 111700750 111700750 + Missense_Mutation SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr3:111700750A>G uc003dyk.3 + 2 343 c.262A>G c.(262-264)ATG>GTG p.M88V ABHD10_uc011bhq.1_Intron NM_018394 NP_060864 Q9NUJ1 ABHDA_HUMAN abhydrolase domain containing 10 precursor 88 mitochondrion serine-type peptidase activity 0 TCTTTCTTATATGAATGGTAC 0.403 PIK3CA 5290 broad.mit.edu 37 3 178921553 178921553 + Missense_Mutation SNP T T A rs121913284 TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr3:178921553T>A uc003fjk.2 + 5 1192 c.1035T>A c.(1033-1035)AAT>AAA p.N345K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 345 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.N345K(29)|p.N345I(2)|p.N345S(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CCTACGTGAATGTAAATATTC 0.308 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) PIK3CA 5290 broad.mit.edu 37 3 178922324 178922324 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr3:178922324G>A uc003fjk.2 + 6 1250 c.1093G>A c.(1093-1095)GAA>AAA p.E365K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 365 C2 PI3K-type. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E365K(2) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CCATGGAGGAGAACCCTTATG 0.343 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) MFSD10 10227 broad.mit.edu 37 4 2934131 2934131 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr4:2934131C>T uc003gfw.2 - 5 954 c.640G>A c.(640-642)GAC>AAC p.D214N MFSD10_uc003gfv.2_5'Flank|MFSD10_uc003gfx.2_Missense_Mutation_p.D38N|MFSD10_uc003gfz.2_Missense_Mutation_p.D214N|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Missense_Mutation_p.D214N|MFSD10_uc003ggb.1_Missense_Mutation_p.D214N|MFSD10_uc003ggc.2_Missense_Mutation_p.D214N|C4orf10_uc003ggd.1_5'Flank|C4orf10_uc003gge.1_5'Flank NM_001120 NP_001111 Q14728 MFS10_HUMAN major facilitator superfamily domain containing 214 Helical; (Potential). apoptosis integral to membrane tetracycline transporter activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) AACAGCAGGTCGGAGGCTGCG 0.642 HERC6 55008 broad.mit.edu 37 4 89317276 89317276 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr4:89317276C>T uc011cdi.1 + 6 1052 c.869C>T c.(868-870)TCG>TTG p.S290L HERC6_uc003hrp.1_RNA|HERC6_uc011cdj.1_Missense_Mutation_p.S290L|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA NM_017912 NP_060382 Q8IVU3 HERC6_HUMAN hect domain and RLD 6 isoform 1 290 RCC1 5. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity lung(3)|ovary(1)|kidney(1) 5 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) GGCCTAGTTTCGCAGATAGAT 0.403 SLC25A31 83447 broad.mit.edu 37 4 128651788 128651788 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr4:128651788G>A uc003ifl.2 + 1 234 c.88G>A c.(88-90)GCG>ACG p.A30T NM_031291 NP_112581 Q9H0C2 ADT4_HUMAN solute carrier family 25 (mitochondrial carrier; 30 Solcar 1.|Helical; Name=1; (Potential). transmembrane transport cilium|flagellum|integral to membrane|mitochondrial inner membrane binding|transporter activity 0 CGGCGGAGTCGCGGCAGCTGT 0.622 RAPGEF2 9693 broad.mit.edu 37 4 160259464 160259464 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr4:160259464G>A uc003iqg.3 + 12 1964 c.1654G>A c.(1654-1656)GAT>AAT p.D552N NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 552 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) TTTGTTCAGTGATATTGGGAT 0.353 ANKRD32 84250 broad.mit.edu 37 5 94027907 94027907 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr5:94027907G>A uc003kkr.3 + 20 2721 c.2641G>A c.(2641-2643)GAT>AAT p.D881N ANKRD32_uc003kks.2_Missense_Mutation_p.D245N NM_032290 NP_115666 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 881 ANK 3. ovary(2) 2 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) TCCTTTGCATGATGCACTGTC 0.448 SLCO6A1 133482 broad.mit.edu 37 5 101774450 101774450 + Missense_Mutation SNP G G T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr5:101774450G>T uc003knn.2 - 7 1319 c.1147C>A c.(1147-1149)CCA>ACA p.P383T SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Missense_Mutation_p.P383T|SLCO6A1_uc003knq.2_Missense_Mutation_p.P321T NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 383 Helical; Name=7; (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) ATGAGCACTGGATTCTTCATC 0.264 DNAJC18 202052 broad.mit.edu 37 5 138758403 138758403 + Missense_Mutation SNP T T C TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr5:138758403T>C uc003len.2 - 6 778 c.773A>G c.(772-774)TAT>TGT p.Y258C DNAJC18_uc010jff.2_Missense_Mutation_p.Y196C NM_152686 NP_689899 Q9H819 DJC18_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 18 258 protein folding integral to membrane heat shock protein binding|unfolded protein binding ovary(1)|kidney(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TTACGATTTATAGAACAGACT 0.363 PCDHA13 56136 broad.mit.edu 37 5 140263899 140263899 + Silent SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr5:140263899G>A uc003lif.2 + 1 2046 c.2046G>A c.(2044-2046)GCG>GCA p.A682A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.A682A|PCDHA13_uc003lid.2_Silent_p.A682A NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 682 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTCGAGGGCGTCGGCAGGCG 0.642 PCDHGB6 56100 broad.mit.edu 37 5 140789875 140789875 + Silent SNP C C G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr5:140789875C>G uc003lkj.1 + 1 2106 c.2106C>G c.(2104-2106)CTC>CTG p.L702L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.L702L|PCDHGA10_uc011day.1_5'Flank|PCDHGA10_uc003lkl.1_5'Flank NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 702 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTCAGTGCTCTTCCTCCTCG 0.577 NR3C1 2908 broad.mit.edu 37 5 142693630 142693630 + Nonsense_Mutation SNP C C A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr5:142693630C>A uc003lmz.2 - 3 1780 c.1288G>T c.(1288-1290)GGA>TGA p.G430* NR3C1_uc003lmy.2_Nonsense_Mutation_p.G430*|NR3C1_uc003lna.2_Nonsense_Mutation_p.G430*|NR3C1_uc003lnb.2_Nonsense_Mutation_p.G430*|NR3C1_uc011dbk.1_Nonsense_Mutation_p.G33*|NR3C1_uc003lnc.2_Nonsense_Mutation_p.G430*|NR3C1_uc003lnd.2_Nonsense_Mutation_p.G430*|NR3C1_uc003lne.2_Nonsense_Mutation_p.G430*|NR3C1_uc003lnf.2_Nonsense_Mutation_p.G430* NM_000176 NP_000167 P04150 GCR_HUMAN glucocorticoid receptor isoform alpha 430 NR C4-type.|Nuclear receptor. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) TAATGACATCCTGAAGCTTCA 0.448 FAM184A 79632 broad.mit.edu 37 6 119324198 119324198 + Missense_Mutation SNP G G C TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr6:119324198G>C uc003pyj.2 - 9 2302 c.1954C>G c.(1954-1956)CTT>GTT p.L652V FAM184A_uc003pyk.3_Missense_Mutation_p.L532V|FAM184A_uc003pyl.3_Missense_Mutation_p.L532V NM_024581 NP_078857 Q8NB25 F184A_HUMAN hypothetical protein LOC79632 isoform 1 652 Potential. ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1) 7 TCTTCACGAAGTTTAGAACAC 0.353 KIAA1244 57221 broad.mit.edu 37 6 138640958 138640958 + Silent SNP C C T rs145838885 TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr6:138640958C>T uc003qhu.2 + 28 4593 c.4593C>T c.(4591-4593)CAC>CAT p.H1531H NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 1531 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) ATTTCAAGCACGCTATTGGTC 0.498 MLLT4 4301 broad.mit.edu 37 6 168323587 168323587 + Missense_Mutation SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr6:168323587A>G uc003qwd.2 + 21 3078 c.2936A>G c.(2935-2937)TAT>TGT p.Y979C MLLT4_uc003qwb.1_Missense_Mutation_p.Y964C|MLLT4_uc003qwc.1_Missense_Mutation_p.Y980C|MLLT4_uc003qwg.1_Missense_Mutation_p.Y289C NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 980 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding ovary(2)|lung(1)|kidney(1)|central_nervous_system(1) 5 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) TGGACAATATATTTTGAAGGT 0.408 T MLL AL USP42 84132 broad.mit.edu 37 7 6150918 6150918 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr7:6150918C>T uc011jwo.1 + 2 277 c.154C>T c.(154-156)CTT>TTT p.L52F USP42_uc011jwn.1_5'UTR|USP42_uc010kth.1_Missense_Mutation_p.L52F|USP42_uc011jwp.1_Missense_Mutation_p.L52F|USP42_uc011jwq.1_5'UTR NM_032172 NP_115548 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 52 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(2)|ovary(1)|pancreas(1)|breast(1) 5 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) AAATCACACACTTTCTTTAGG 0.463 CTTNBP2 83992 broad.mit.edu 37 7 117365228 117365228 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr7:117365228G>A uc003vjf.2 - 18 4231 c.4139C>T c.(4138-4140)CCT>CTT p.P1380L NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1380 ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) CCCAAAGCCAGGTTGTCTTTT 0.498 KCND2 3751 broad.mit.edu 37 7 120382625 120382625 + Missense_Mutation SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr7:120382625A>G uc003vjj.1 + 4 2401 c.1436A>G c.(1435-1437)CAC>CGC p.H479R NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 479 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) ACCCAGCACCACCACCTGCTT 0.453 CSMD1 64478 broad.mit.edu 37 8 3087702 3087702 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr8:3087702C>T uc011kwk.1 - 27 4598 c.4208G>A c.(4207-4209)CGC>CAC p.R1403H CSMD1_uc011kwj.1_Missense_Mutation_p.R795H|CSMD1_uc003wqe.2_Missense_Mutation_p.R559H NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1403 Extracellular (Potential).|Sushi 8. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTCTCCATAGCGGGTGCCATT 0.522 PREX2 80243 broad.mit.edu 37 8 68965375 68965375 + Silent SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr8:68965375G>A uc003xxv.1 + 9 1014 c.987G>A c.(985-987)AAG>AAA p.K329K PREX2_uc003xxu.1_Silent_p.K329K|PREX2_uc011lez.1_Silent_p.K264K NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 329 PH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 ATGGATGGAAGATACATAACA 0.323 ZFHX4 79776 broad.mit.edu 37 8 77618345 77618345 + Nonsense_Mutation SNP T T A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr8:77618345T>A uc003yav.2 + 2 2409 c.2022T>A c.(2020-2022)TGT>TGA p.C674* ZFHX4_uc003yat.1_Nonsense_Mutation_p.C674*|ZFHX4_uc003yau.1_Nonsense_Mutation_p.C674*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.C674* NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 674 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GTGGCTCTTGTGTTTATTGTA 0.498 HNSCC(33;0.089) ZFHX4 79776 broad.mit.edu 37 8 77762599 77762599 + Splice_Site SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr8:77762599G>A uc003yav.2 + 9 4216 c.3829_splice c.e9+1 p.G1277_splice ZFHX4_uc003yau.1_Splice_Site_p.G1322_splice|ZFHX4_uc003yaw.1_Splice_Site_p.G1277_splice NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAATATTCAGGTATGCCATCT 0.463 HNSCC(33;0.089) ESRP1 54845 broad.mit.edu 37 8 95658491 95658491 + Silent SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr8:95658491C>T uc003ygq.3 + 4 654 c.471C>T c.(469-471)GAC>GAT p.D157D ESRP1_uc003ygr.3_Silent_p.D157D|ESRP1_uc003ygs.3_Silent_p.D157D|ESRP1_uc003ygt.3_Silent_p.D157D|ESRP1_uc003ygu.3_Silent_p.D157D|ESRP1_uc003ygv.2_Translation_Start_Site|ESRP1_uc003ygw.2_Translation_Start_Site NM_017697 NP_060167 Q6NXG1 ESRP1_HUMAN RNA binding motif protein 35A isoform 1 157 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) prostate(4) 4 ACAAACTGGACGTTGCCACAA 0.333 JAK2 3717 broad.mit.edu 37 9 5078361 5078361 + Missense_Mutation SNP G G C TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr9:5078361G>C uc010mhm.2 + 15 2161 c.2048G>C c.(2047-2049)AGA>ACA p.R683T JAK2_uc003ziw.2_Missense_Mutation_p.R683T NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 683 Protein kinase 1. actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding p.R683G(40)|p.R683S(12)|p.R683T(2)|p.R683K(1)|p.I682_D686>(1) PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4) haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1) 28641 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) CTGCTTATCAGAGAAGAAGAC 0.363 1 T|Mis|O ETV6|PCM1|BCR ALL|AML|MPD| CML Polycythemia_Vera_Familial NFX1 4799 broad.mit.edu 37 9 33307203 33307203 + Missense_Mutation SNP A A C TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr9:33307203A>C uc003zsq.2 + 5 1343 c.1282A>C c.(1282-1284)AAT>CAT p.N428H SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Missense_Mutation_p.N428H|NFX1_uc003zso.2_Missense_Mutation_p.N428H|NFX1_uc003zsp.1_Missense_Mutation_p.N428H|NFX1_uc010mjr.1_Missense_Mutation_p.N428H|NFX1_uc003zsr.2_Missense_Mutation_p.N428H NM_002504 NP_002495 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 428 inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) CAAGGTAAAGAATCCTGAGTG 0.418 KIAA1045 23349 broad.mit.edu 37 9 34971401 34971401 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr9:34971401C>T uc003zvq.2 + 2 284 c.106C>T c.(106-108)CGC>TGC p.R36C KIAA1045_uc003zvr.2_Missense_Mutation_p.R36C NM_015297 NP_056112 Q9UPV7 K1045_HUMAN hypothetical protein LOC23349 36 calcium ion binding skin(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00575) TTCCATCCGACGCACAGGTGA 0.617 C9orf172 389813 broad.mit.edu 37 9 139739581 139739581 + Missense_Mutation SNP C C A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr9:139739581C>A uc011meh.1 + 1 715 c.715C>A c.(715-717)CCG>ACG p.P239T PHPT1_uc004cjp.2_5'Flank NM_001080482 NP_001073951 C9J069 CI172_HUMAN chromosome 9 open reading frame 172 239 Pro-rich. 0 GTCGCGCACCCCGACGCCCAG 0.766 BCOR 54880 broad.mit.edu 37 X 39921997 39921997 + Splice_Site SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chrX:39921997A>G uc004den.3 - 9 4465 c.4173_splice c.e9+1 p.K1391_splice BCOR_uc004dep.3_Splice_Site_p.K1357_splice|BCOR_uc004deo.3_Splice_Site_p.K1339_splice|BCOR_uc010nhb.2_Intron|BCOR_uc004dem.3_Splice_Site_p.K1357_splice NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 GTCAAGAGGTACCTTGCCATC 0.577 CCDC36 339834 broad.mit.edu 37 3 49249271 49249272 + Splice_Site INS - - TAAGT TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr3:49249270_49249271G>GTAAGT uc003cwk.2 + 4 443 c.56_splice c.e4+1 p.G19_splice CCDC36_uc003cwl.4_Splice_Site_p.G19_splice|CCDC36_uc011bck.1_Splice_Site_p.G19_splice|CCDC36_uc010hkt.2_Splice_Site NM_178173 NP_835467 Q8IYA8 CCD36_HUMAN Homo sapiens coiled-coil domain containing 36 (CCDC36), transcript variant 1, mRNA. 19 endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) CAGGCTCTGGGTAAGTTTTCTG 0.401 VPS4A 27183 broad.mit.edu 37 16 69356604 69356607 + Splice_Site DEL GTAA GTAA - TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr16:69356603_69356606GGTAA>G uc002eww.3 + 10 1340 c.1212_splice c.e10+1 p.M404_splice NM_013245 NP_037377 Q9UN37 VPS4A_HUMAN Homo sapiens vacuolar protein sorting 4 homolog A (S. cerevisiae) (VPS4A), mRNA. 404 cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3) 7 Ovarian(137;0.101) TGGTTTGCATGGTAAGTGACTTGA 0.544 CCDC36 339834 broad.mit.edu 37 3 49249271 49249272 + Splice_Site INS - - TAAGT TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr3:49249270_49249271G>GTAAGT uc003cwk.2 + 4 443 c.56_splice c.e4+1 p.G19_splice CCDC36_uc003cwl.4_Splice_Site_p.G19_splice|CCDC36_uc011bck.1_Splice_Site_p.G19_splice|CCDC36_uc010hkt.2_Splice_Site NM_178173 NP_835467 Q8IYA8 CCD36_HUMAN Homo sapiens coiled-coil domain containing 36 (CCDC36), transcript variant 1, mRNA. 19 endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) CAGGCTCTGGGTAAGTTTTCTG 0.401 PDE5A 8654 broad.mit.edu 37 4 120440291 120440292 + Frame_Shift_Ins INS - - TG TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr4:120440290_120440291T>TTG uc003idh.3 - 13 2064_2065 c.1909_1910A>CAA c.(1909-1911)aagfs p.K637fs PDE5A_uc003idf.3_Frame_Shift_Ins_p.K595fs|PDE5A_uc003idg.3_Frame_Shift_Ins_p.K585fs|AF085995_uc003idi.4_Intron NM_001083 NP_246273 O76074 PDE5A_HUMAN Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA. 637 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) GTCAGTCAGCTTGTTCTGCATG 0.406 ATHL1 80162 broad.mit.edu 37 11 293712 293713 + Frame_Shift_Ins INS - - C TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr11:293711_293712G>GC uc010qvu.2 + 9 1713_1714 c.1598_1599G>GC c.(1597-1599)ggcfs p.G533fs ATHL1_uc001lor.4_Frame_Shift_Ins_p.G285fs|ATHL1_uc001lou.4_Frame_Shift_Ins_p.G108fs|ATHL1_uc001lov.4_5'Flank NM_025092 NP_079368 Q32M88 ATHL1_HUMAN Homo sapiens ATH1, acid trehalase-like 1 (yeast) (ATHL1), mRNA. 533 carbohydrate metabolic process hydrolase activity, acting on glycosyl bonds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3) 17 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) TCCCCCCAGGGCCCCGCCATGA 0.619 PAMR1 25891 broad.mit.edu 37 11 35513670 35513671 + Frame_Shift_Ins INS - - C TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr11:35513669_35513670A>AC uc001mwf.3 - 2 345_346 c.302_303T>GT c.(301-303)ggtfs p.G101fs PAMR1_uc001mwg.3_Frame_Shift_Ins_p.G101fs|PAMR1_uc010rew.2_Frame_Shift_Ins_p.G101fs|PAMR1_uc010rex.2_Frame_Shift_Ins_p.G61fs NM_015430 NP_056245 Q6UXH9 PAMR1_HUMAN Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA. 101 proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 CATCCAAGGTACCCCCCCATGA 0.520 ZNF280D 54816 broad.mit.edu 37 15 56924285 56924286 + Frame_Shift_Ins INS - - T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr15:56924284_56924285A>AT uc002adu.3 - 21 2568_2569 c.2351_2352T>AT c.(2350-2352)aatfs p.N784fs BC037892_uc002ads.3_5'Flank|ZNF280D_uc002adv.3_Frame_Shift_Ins_p.N771fs|ZNF280D_uc010bfq.3_Frame_Shift_Ins_p.N784fs|ZNF280D_uc002adt.3_Frame_Shift_Ins_p.N25fs|ZNF280D_uc010bfp.3_Non-coding_Transcript NM_017661 NP_001002843 Q6N043 Z280D_HUMAN Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA. 784 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 30 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) CATTACATCCATTTTTTTCTTT 0.302 KIAA0430 9665 broad.mit.edu 37 16 15733043 15733050 + Frame_Shift_Del DEL TCCACGTG TCCACGTG - TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr16:15733042_15733049ATCCACGTG>A uc002ddr.3 - 1 249_256 c.42_49CACGTGGAT>T c.(40-51)acacgtggatggfs p.T14fs KIAA0430_uc002ddq.3_Frame_Shift_Del_p.T13fs|KIAA0430_uc010uzv.2_Frame_Shift_Del_p.T14fs|KIAA0430_uc010uzw.2_Frame_Shift_Del_p.T14fs|KIAA0430_uc010uzx.2_Frame_Shift_Del_p.T13fs NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA. 13 peroxisome RNA binding|nucleotide binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TGTTGAAGCCATCCACGTGTTCTACTGC 0.442 PLK1 5347 broad.mit.edu 37 16 23700944 23700944 + Frame_Shift_Del DEL A A - TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr16:23700943_23700943CA>C uc002dlz.1 + 8 1607 c.1554_1554CA>C c.(1552-1554)cgcfs p.R518fs NM_005030 NP_005021 P53350 PLK1_HUMAN Homo sapiens polo-like kinase 1 (PLK1), mRNA. 518 POLO box 2. R -> H (in dbSNP:rs56027600). G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole ATP binding|anaphase-promoting complex binding|polo kinase kinase activity|protein kinase binding p.T517T(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(48;0.0156) TCCGCACCCGCAGCGCCATCA 0.637 VPS4A 27183 broad.mit.edu 37 16 69356604 69356607 + Splice_Site DEL GTAA GTAA - TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr16:69356603_69356606GGTAA>G uc002eww.3 + 10 1340 c.1212_splice c.e10+1 p.M404_splice NM_013245 NP_037377 Q9UN37 VPS4A_HUMAN Homo sapiens vacuolar protein sorting 4 homolog A (S. cerevisiae) (VPS4A), mRNA. 404 cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3) 7 Ovarian(137;0.101) TGGTTTGCATGGTAAGTGACTTGA 0.544 NOB1 28987 broad.mit.edu 37 16 69782978 69782979 + In_Frame_Ins INS - - TCCTCC TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 g.chr16:69782977_69782978T>TTCCTCC uc002exs.3 - 5 585_586 c.569_570A>GGAGGAA c.(568-570)gaa>gGGAGGAA p.190_190E>GR NM_014062 NP_054781 Q9ULX3 NOB1_HUMAN Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA. 190 Poly-Glu. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 ACCCGTTTTCTTCCTCCTCCTC 0.520