Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut KLHL17 339451 broad.mit.edu 37 1 898584 898584 + Missense_Mutation SNP G G T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr1:898584G>T uc001aca.1 + 7 1245 c.1138G>T c.(1138-1140)GCC>TCC p.A380S KLHL17_uc001acc.1_RNA|KLHL17_uc010nyb.1_Silent_p.G128G NM_198317 NP_938073 Q6TDP4 KLH17_HUMAN kelch-like 17 380 Interaction with F-actin (By similarity).|Kelch 1. actin cytoskeleton organization actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane protein complex scaffold 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CACGCGCCGGGCCCGGGTGGG 0.716 NA 4 13 0.00024832 0.000264201 1 0 WDTC1 23038 broad.mit.edu 37 1 27632707 27632707 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr1:27632707G>A uc009vst.2 + 16 2402 c.1867G>A c.(1867-1869)GAT>AAT p.D623N WDTC1_uc001bno.2_Missense_Mutation_p.D622N|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_Missense_Mutation_p.D301N NM_015023 NP_055838 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 623 protein binding ovary(1)|central_nervous_system(1) 2 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) AGTCGTGGAAGATATGGAGGG 0.607 NA 19 36 0 0 0 0 KPRP 448834 broad.mit.edu 37 1 152732235 152732235 + Silent SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr1:152732235C>T uc001fal.1 + 2 229 c.171C>T c.(169-171)TGC>TGT p.C57C NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 57 Gln-rich. cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TTCAAGTTTGCCAGGTGTCAG 0.547 NA 30 79 0 0 0 0 MTPAP 55149 broad.mit.edu 37 10 30638194 30638194 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr10:30638194G>A uc001iva.3 - 1 74 c.11C>T c.(10-12)CCC>CTC p.P4L MTPAP_uc001ivb.3_Intron|MTPAP_uc001ivc.2_Missense_Mutation_p.P4L NM_018109 NP_060579 Q9NVV4 PAPD1_HUMAN PAP associated domain containing 1 precursor 4 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding ovary(1) 1 CCCCACGCCGGGAACCGCCAT 0.567 NA 3 31 0 0 0 0 TACC2 10579 broad.mit.edu 37 10 123989891 123989891 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr10:123989891G>A uc001lfv.2 + 16 8423 c.8063G>A c.(8062-8064)CGG>CAG p.R2688Q TACC2_uc001lfw.2_Missense_Mutation_p.R834Q|TACC2_uc009xzx.2_Intron|TACC2_uc010qtv.1_Intron|TACC2_uc001lfx.2_Intron|TACC2_uc001lfy.2_Intron|TACC2_uc001lfz.2_Missense_Mutation_p.R766Q|TACC2_uc001lga.2_Intron|TACC2_uc009xzy.2_Intron|TACC2_uc001lgb.2_Intron NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 2688 Potential. microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GCCATCATGCGGATAGAAGCC 0.567 NA 35 93 0 0 0 0 ILK 3611 broad.mit.edu 37 11 6630568 6630568 + Silent SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr11:6630568G>A uc001mee.2 + 8 792 c.657G>A c.(655-657)GTG>GTA p.V219V ILK_uc001mef.2_Silent_p.V219V|ILK_uc010rap.1_Silent_p.V85V|ILK_uc010raq.1_Silent_p.V158V|ILK_uc001meg.2_Silent_p.V65V|ILK_uc001meh.2_Silent_p.V219V|ILK_uc001mei.2_5'Flank NM_001014794 NP_001014794 Q13418 ILK_HUMAN integrin-linked kinase 219 Protein kinase. cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent cytosol|focal adhesion ATP binding|protein serine/threonine kinase activity central_nervous_system(1) 1 Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152) Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163) ACATTGTCGTGAAGGTGCTGA 0.547 NA 24 57 0 0 0 0 CKAP5 9793 broad.mit.edu 37 11 46800015 46800015 + Missense_Mutation SNP C C G TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr11:46800015C>G uc001ndi.1 - 21 2678 c.2568G>C c.(2566-2568)GAG>GAC p.E856D CKAP5_uc009ylg.1_Missense_Mutation_p.E742D|CKAP5_uc001ndj.1_Missense_Mutation_p.E856D NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein 856 HEAT 5. cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding|protein binding ovary(1)|skin(1) 2 CCTACCTGATCTCCGTCCTCG 0.413 NA 23 54 0 0 0 0 AKAP3 10566 broad.mit.edu 37 12 4735774 4735774 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr12:4735774G>A uc001qnb.3 - 4 2523 c.2294C>T c.(2293-2295)ACG>ATG p.T765M NM_006422 NP_006413 O75969 AKAP3_HUMAN A-kinase anchor protein 3 765 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding skin(3)|large_intestine(1)|ovary(1)|kidney(1) 6 AACTGTGTCCGTTAGGTTGTG 0.488 NA 30 126 0 0 0 0 KRT6B 3854 broad.mit.edu 37 12 52843354 52843354 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr12:52843354G>A uc001sak.2 - 5 1024 c.976C>T c.(976-978)CGC>TGC p.R326C NM_005555 NP_005546 P04259 K2C6B_HUMAN keratin 6B 326 Rod.|Linker 12. ectoderm development keratin filament structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.083) TCCAGGTTGCGGTTGTTGTCC 0.527 NA 4 220 0 0 0 0 PCDH8 5100 broad.mit.edu 37 13 53420242 53420242 + Missense_Mutation SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr13:53420242C>T uc001vhi.2 - 1 2533 c.2330G>A c.(2329-2331)CGC>CAC p.R777H PCDH8_uc001vhj.2_Missense_Mutation_p.R777H NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 777 Cytoplasmic (Potential). cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CTCCTTCTTGCGGCGGTTGCA 0.622 NA 15 17 0 0 0 0 GPC5 2262 broad.mit.edu 37 13 92345950 92345950 + Nonsense_Mutation SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr13:92345950C>T uc010tif.1 + 3 1201 c.835C>T c.(835-837)CGA>TGA p.R279* NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 279 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) CAATGTCATGCGAGGCTGCCT 0.542 NA 22 27 0 0 0 0 FSCB 84075 broad.mit.edu 37 14 44974032 44974032 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr14:44974032G>A uc001wvn.2 - 1 2468 c.2159C>T c.(2158-2160)CCA>CTA p.P720L NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 720 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) CAAATCAGCTGGTGGGGAATG 0.522 NA 11 30 0 0 0 0 RPL4 6124 broad.mit.edu 37 15 66795855 66795855 + Missense_Mutation SNP G G A rs142487012 TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr15:66795855G>A uc002apv.2 - 2 72 c.16C>T c.(16-18)CCA>TCA p.P6S RPL4_uc010bhr.2_5'UTR|RPL4_uc002apw.2_5'UTR|RPL4_uc002apx.2_5'UTR|RPL4_uc010ujq.1_Missense_Mutation_p.P6S|SNORD18C_uc010bhs.1_5'Flank|SNORD18B_uc002apy.1_5'Flank|SNORD16_uc010bht.2_5'Flank|SNORD18A_uc002apz.1_5'Flank|ZWILCH_uc010bhu.1_5'Flank|ZWILCH_uc002aqb.2_5'Flank|ZWILCH_uc002aqa.2_5'Flank|ZWILCH_uc010bhv.2_5'Flank NM_000968 NP_000959 P36578 RL4_HUMAN ribosomal protein L4 6 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome 0 GATATCAGTGGGCGAGCACAC 0.403 NA 26 11 0 0 0 0 XYLT1 64131 broad.mit.edu 37 16 17202658 17202658 + Missense_Mutation SNP G G C TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr16:17202658G>C uc002dfa.2 - 12 2859 c.2774C>G c.(2773-2775)ACA>AGA p.T925R NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 925 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 CGGGCAGGCTGTGGGGCCCGT 0.677 NA 9 19 0 0 0 0 GLOD4 51031 broad.mit.edu 37 17 685428 685428 + Missense_Mutation SNP T T C TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr17:685428T>C uc002frv.2 - 1 144 c.68A>G c.(67-69)TAT>TGT p.Y23C GLOD4_uc002fru.2_Missense_Mutation_p.Y23C|GLOD4_uc010vqc.1_5'UTR|RNMTL1_uc002frw.2_5'Flank NM_016080 NP_057164 Q9HC38 GLOD4_HUMAN glyoxalase domain containing 4 23 mitochondrion 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.022) GACGTCCCGATAGAAACGCGC 0.692 NA 13 32 0 0 0 0 DNAH2 146754 broad.mit.edu 37 17 7668743 7668743 + Nonsense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr17:7668743G>A uc002giu.1 + 20 3385 c.3371G>A c.(3370-3372)TGG>TAG p.W1124* NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 1124 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) AACGGGGAGTGGGTTGTCTTC 0.537 NA 28 74 0 0 0 0 DHX58 79132 broad.mit.edu 37 17 40253880 40253880 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr17:40253880G>A uc002hyw.3 - 14 2159 c.1936C>T c.(1936-1938)CGG>TGG p.R646W DHX58_uc002hyv.3_RNA NM_024119 NP_077024 Q96C10 DHX58_HUMAN RNA helicase LGP2 646 RNA-binding. innate immune response cytoplasm ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding 0 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GCCTGGATCCGCCCCTGAGGG 0.587 NA OREG0024418 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 68 0 0 0 0 SPOP 8405 broad.mit.edu 37 17 47688665 47688665 + Missense_Mutation SNP T T C TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr17:47688665T>C uc010dbk.2 - 7 1267 c.635A>G c.(634-636)CAG>CGG p.Q212R SPOP_uc002ipb.2_Missense_Mutation_p.Q212R|SPOP_uc002ipc.2_Missense_Mutation_p.Q212R|SPOP_uc002ipd.2_Missense_Mutation_p.Q212R|SPOP_uc002ipe.2_Missense_Mutation_p.Q212R|SPOP_uc002ipf.2_Missense_Mutation_p.Q212R|SPOP_uc002ipg.2_Missense_Mutation_p.Q212R NM_003563 NP_003554 O43791 SPOP_HUMAN speckle-type POZ protein 212 BTB. mRNA processing nucleus protein binding prostate(2)|ovary(2)|lung(2) 6 CTTGTGAGCCTGGAATTCCTG 0.448 NA Prostate(2;0.17) 4 201 0 0 0 0 ITGB4 3691 broad.mit.edu 37 17 73753345 73753345 + Silent SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr17:73753345C>T uc002jpg.2 + 39 5470 c.5283C>T c.(5281-5283)AGC>AGT p.S1761S ITGB4_uc002jph.2_Silent_p.S1691S|ITGB4_uc002jpi.3_Silent_p.S1691S|ITGB4_uc002jpj.2_Silent_p.S1744S|GALK1_uc010wsi.1_Intron NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 1761 Cytoplasmic (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GCGAGTACAGCAGCATCACCA 0.667 NA 16 37 0 0 0 0 C18orf34 374864 broad.mit.edu 37 18 30969508 30969508 + Silent SNP A A C TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr18:30969508A>C uc002kxn.2 - 4 346 c.204T>G c.(202-204)ACT>ACG p.T68T C18orf34_uc010xbr.1_Silent_p.T68T|C18orf34_uc010dmf.1_Silent_p.T68T|C18orf34_uc002kxo.2_Silent_p.T68T|C18orf34_uc002kxp.2_Silent_p.T68T NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 68 ovary(1) 1 CCTCACCTTCAGTATTTGTCA 0.279 NA 19 43 0 0 0 0 ATP5A1 498 broad.mit.edu 37 18 43666161 43666161 + Silent SNP G G A rs141613719 TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr18:43666161G>A uc002lbr.1 - 10 1437 c.1347C>T c.(1345-1347)TTC>TTT p.F449F ATP5A1_uc010dnl.1_Silent_p.F399F|ATP5A1_uc002lbs.1_Silent_p.F399F|ATP5A1_uc002lbt.1_Silent_p.F449F NM_004046 NP_004037 P25705 ATPA_HUMAN ATP synthase, H+ transporting, mitochondrial F1 449 ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain mitochondrial matrix|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism 0 GGTCAGAACCGAACTGGGCAA 0.458 NA 51 44 0 0 0 0 APBA3 9546 broad.mit.edu 37 19 3752701 3752701 + Silent SNP C C G TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr19:3752701C>G uc002lyp.1 - 8 1377 c.1200G>C c.(1198-1200)CGG>CGC p.R400R APBA3_uc002lyo.1_Silent_p.R158R NM_004886 NP_004877 O96018 APBA3_HUMAN amyloid beta (A4) precursor protein-binding, 400 PDZ 1. intracellular signal transduction|protein transport intracellular|membrane protein binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCCCCTCGCCGCTTCTCGA 0.746 NA 6 8 0 0 0 0 DPP9 91039 broad.mit.edu 37 19 4684712 4684712 + Missense_Mutation SNP C C A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr19:4684712C>A uc002mba.2 - 18 2399 c.2141G>T c.(2140-2142)CGA>CTA p.R714L NM_139159 NP_631898 Q86TI2 DPP9_HUMAN dipeptidylpeptidase 9 685 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) CCGAAGCCCTCGCTGACAGGA 0.582 NA 7 15 1.26e-09 1.41e-09 1 0 ZSCAN5B 342933 broad.mit.edu 37 19 56703238 56703238 + Missense_Mutation SNP G G C TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr19:56703238G>C uc010ygh.1 - 2 569 c.569C>G c.(568-570)GCT>GGT p.A190G NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 190 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 GGACAGTGCAGCGACCCTGGG 0.622 NA 6 31 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141267498 141267498 + Silent SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr2:141267498G>A uc002tvj.1 - 52 9369 c.8397C>T c.(8395-8397)TGC>TGT p.C2799C NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2799 Extracellular (Potential).|LDL-receptor class A 17. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGTTCATACCGCAGCCTGCTG 0.507 NA TSP Lung(27;0.18) 4 110 0 0 0 0 OBSL1 23363 broad.mit.edu 37 2 220435109 220435109 + Silent SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr2:220435109C>T uc010fwk.2 - 1 903 c.846G>A c.(844-846)GAG>GAA p.E282E OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Silent_p.E282E|OBSL1_uc002vmj.2_Intron|INHA_uc002vmk.1_5'Flank NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 282 Ig-like 3. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) GCGGGCGGCCCTCCCAGTGCC 0.672 NA 10 20 0 0 0 0 KIF1A 547 broad.mit.edu 37 2 241722504 241722504 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr2:241722504G>A uc002vzy.2 - 9 967 c.821C>T c.(820-822)TCG>TTG p.S274L KIF1A_uc010fzk.2_Missense_Mutation_p.S274L|KIF1A_uc002vzz.1_Missense_Mutation_p.S274L NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 274 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GGTGGTCAGCGACTTGTTGAT 0.657 NA 24 40 0 0 0 0 C20orf160 140706 broad.mit.edu 37 20 30617557 30617557 + Silent SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr20:30617557G>A uc002wxf.2 + 8 1267 c.1254G>A c.(1252-1254)GGG>GGA p.G418G C20orf160_uc002wxg.2_Missense_Mutation_p.E22K NM_080625 NP_542192 Q9NUG4 CT160_HUMAN hypothetical protein LOC140706 Error:Variant_position_missing_in_Q9NUG4_after_alignment central_nervous_system(3)|ovary(1) 4 GCTGCTGCGGGAGTACCGGCT 0.617 NA 11 54 0 0 0 0 DSN1 79980 broad.mit.edu 37 20 35399490 35399490 + Silent SNP G G A rs139234953 TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr20:35399490G>A uc010gfr.2 - 3 514 c.141C>T c.(139-141)GGC>GGT p.G47G DSN1_uc002xfz.2_Silent_p.G47G|DSN1_uc002xfy.3_Intron|DSN1_uc002xga.2_Silent_p.G47G|DSN1_uc010zvs.1_Intron|DSN1_uc002xgc.2_Silent_p.G31G|DSN1_uc002xgb.2_Silent_p.G31G NM_001145316 NP_001138788 Q9H410 DSN1_HUMAN DSN1, MIND kinetochore complex component, 47 cell division|chromosome segregation|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding ovary(2) 2 Myeloproliferative disorder(115;0.00874) CCTCTGAAACGCCTTGATTCA 0.448 NA 53 205 0 0 0 0 MC3R 4159 broad.mit.edu 37 20 54823948 54823948 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr20:54823948G>A uc002xxb.2 + 1 161 c.49G>A c.(49-51)GGC>AGC p.G17S NM_019888 NP_063941 P41968 MC3R_HUMAN melanocortin 3 receptor 54 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding ovary(2)|breast(2) 4 Colorectal(105;0.202) ACTGCCTAATGGCTCGGAGCA 0.582 NA 56 153 0 0 0 0 LSS 4047 broad.mit.edu 37 21 47626627 47626627 + Missense_Mutation SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr21:47626627C>T uc002zij.2 - 16 1602 c.1523G>A c.(1522-1524)GGG>GAG p.G508E LSS_uc011afv.1_Missense_Mutation_p.G497E|LSS_uc002zil.2_Missense_Mutation_p.G508E|LSS_uc002zik.2_Missense_Mutation_p.G428E NM_001001438 NP_001001438 P48449 ERG7_HUMAN lanosterol synthase isoform 1 508 PFTB 2. cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity 0 Breast(49;0.214) CAAGTGCCCCCCACGCTTGGT 0.602 NA 20 56 0 0 0 0 RIMBP3 85376 broad.mit.edu 37 22 20458538 20458538 + Nonsense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr22:20458538G>A uc002zsd.3 - 1 3249 c.2764C>T c.(2764-2766)CAG>TAG p.Q922* NM_015672 NP_056487 RIMS binding protein 3 0 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) GCTTCATCCTGCCCCGCTGGG 0.597 NA 10 34 0 0 0 0 SLC4A7 9497 broad.mit.edu 37 3 27431585 27431585 + Missense_Mutation SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr3:27431585C>T uc003cdv.2 - 22 3241 c.3170G>A c.(3169-3171)CGT>CAT p.R1057H SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.R938H|SLC4A7_uc011aww.1_Missense_Mutation_p.R1066H|SLC4A7_uc011awx.1_Missense_Mutation_p.R1053H|SLC4A7_uc011awy.1_Missense_Mutation_p.R1049H|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.R938H|SLC4A7_uc011axb.1_Missense_Mutation_p.R1053H|SLC4A7_uc010hfl.2_Missense_Mutation_p.R607H|SLC4A7_uc003cdw.2_Missense_Mutation_p.R933H NM_003615 NP_003606 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate 1057 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|central_nervous_system(1)|skin(1) 5 TAATTTTATACGGTCAAATAA 0.328 NA 4 163 0 0 0 0 ZCCHC4 29063 broad.mit.edu 37 4 25314436 25314436 + Missense_Mutation SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr4:25314436C>T uc003grl.3 + 1 41 c.5C>T c.(4-6)GCG>GTG p.A2V NM_024936 NP_079212 Q9H5U6 ZCHC4_HUMAN zinc finger, CCHC domain containing 4 2 methyltransferase activity|nucleic acid binding|zinc ion binding ovary(2) 2 Breast(46;0.0503) GGGAAGATGGCGGCCTCCAGG 0.652 NA OREG0016141 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 174 0 0 0 0 NAA11 84779 broad.mit.edu 37 4 80247011 80247011 + Silent SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr4:80247011C>T uc003hlt.3 - 1 161 c.21G>A c.(19-21)CAG>CAA p.Q7Q NM_032693 NP_116082 Q9BSU3 NAA11_HUMAN alpha-N-acetyltransferase 1B 7 Interaction with NAA15 (By similarity).|N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 GGTCGTCTGGCTGAGCGTTGC 0.522 NA 15 25 0 0 0 0 EGF 1950 broad.mit.edu 37 4 110915936 110915936 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr4:110915936G>A uc003hzy.3 + 20 3357 c.2905G>A c.(2905-2907)GTA>ATA p.V969I EGF_uc011cfu.1_Missense_Mutation_p.V927I|EGF_uc011cfv.1_Missense_Mutation_p.V928I|EGF_uc010imk.2_Missense_Mutation_p.V117I NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 969 Extracellular (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) CCACTATTCCGTAAGAAATAG 0.443 NA 27 47 0 0 0 0 C4orf31 79625 broad.mit.edu 37 4 121957686 121957686 + Silent SNP G G A rs146653001 TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr4:121957686G>A uc003idq.1 - 4 1967 c.1440C>T c.(1438-1440)ATC>ATT p.I480I NM_024574 NP_078850 Q8TB73 CD031_HUMAN hypothetical protein LOC79625 precursor 480 Fibronectin type-III 2. 0 CTTTTTTGTAGATGCAAAACT 0.433 NA 24 67 0 0 0 0 TBC1D9 23158 broad.mit.edu 37 4 141583131 141583131 + Silent SNP A A T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr4:141583131A>T uc010ioj.2 - 10 1991 c.1719T>A c.(1717-1719)GCT>GCA p.A573A NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 573 Rab-GAP TBC. intracellular calcium ion binding|Rab GTPase activator activity ovary(1) 1 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) CATTCTGAAAAGCTGGGTGTT 0.468 NA 24 58 0 0 0 0 FAM149A 25854 broad.mit.edu 37 4 187074901 187074901 + Silent SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr4:187074901C>T uc003iyt.3 + 5 768 c.189C>T c.(187-189)TGC>TGT p.C63C FAM149A_uc011cla.1_Silent_p.C63C|FAM149A_uc010isj.2_Silent_p.C63C|FAM149A_uc010isk.2_RNA|FAM149A_uc003iyu.3_Silent_p.C63C|FAM149A_uc010isl.2_Silent_p.C63C|FAM149A_uc011clb.1_Silent_p.C63C NM_015398 NP_056213 A5PLN7 F149A_HUMAN hypothetical protein LOC25854 354 breast(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166) TCAGTGCCTGCGGACACAGCA 0.468 NA 4 174 0 0 0 0 GPR98 84059 broad.mit.edu 37 5 89943471 89943471 + Missense_Mutation SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr5:89943471C>T uc003kju.2 + 17 3275 c.3179C>T c.(3178-3180)ACG>ATG p.T1060M GPR98_uc003kjt.2_Translation_Start_Site NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 1060 Calx-beta 8.|Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AAAGGAGAAACGCTCATTTTT 0.413 NA 33 139 0 0 0 0 TCERG1 10915 broad.mit.edu 37 5 145851099 145851099 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr5:145851099G>A uc003lob.2 + 9 1601 c.1561G>A c.(1561-1563)GCA>ACA p.A521T TCERG1_uc003loc.2_Missense_Mutation_p.A500T|TCERG1_uc011dbt.1_Missense_Mutation_p.A500T NM_006706 NP_006697 O14776 TCRG1_HUMAN transcription elongation regulator 1 isoform 1 521 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity ovary(1)|skin(1) 2 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGCCCAGAAGGCAAAGCCAGT 0.333 NA 74 67 0 0 0 0 PPP1R10 5514 broad.mit.edu 37 6 30571952 30571952 + Silent SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr6:30571952C>T uc003nqn.1 - 14 1893 c.1341G>A c.(1339-1341)GCG>GCA p.A447A PPP1R10_uc010jsc.1_Silent_p.A101A NM_002714 NP_002705 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 447 Essential for PPP1CA inhibition (By similarity).|Interaction with WDR82 (By similarity). protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding ovary(2)|lung(1)|kidney(1) 4 TCAGACGCCGCGCTGTCTCAA 0.552 NA 109 45 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152651634 152651634 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr6:152651634G>A uc010kiw.2 - 78 14788 c.14186C>T c.(14185-14187)GCG>GTG p.A4729V SYNE1_uc003qot.3_Missense_Mutation_p.A4658V|SYNE1_uc003qou.3_Missense_Mutation_p.A4729V|SYNE1_uc010kiz.2_Missense_Mutation_p.A484V NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4729 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTCATCCACCGCCTCCCCAAG 0.552 NA HNSCC(10;0.0054) 14 42 0 0 0 0 EIF2AK1 27102 broad.mit.edu 37 7 6077066 6077066 + Nonsense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr7:6077066G>A uc003spp.2 - 11 1467 c.1321C>T c.(1321-1323)CGA>TGA p.R441* EIF2AK1_uc003spq.2_Nonsense_Mutation_p.R440*|EIF2AK1_uc011jwm.1_Nonsense_Mutation_p.R317* NM_014413 NP_055228 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha 441 Protein kinase. negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1) 4 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) TTCAGATCTCGGTGCACAATT 0.378 NA 32 45 0 0 0 0 EEPD1 80820 broad.mit.edu 37 7 36194642 36194642 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr7:36194642G>A uc003tfa.2 + 2 1349 c.709G>A c.(709-711)GGG>AGG p.G237R NM_030636 NP_085139 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family 237 DNA repair DNA binding 0 GCCGCCAGGGGGGCCCACCCA 0.662 NA 8 28 0 0 0 0 POM121L12 285877 broad.mit.edu 37 7 53103445 53103445 + Silent SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr7:53103445C>T uc003tpz.2 + 1 97 c.81C>T c.(79-81)GAC>GAT p.D27D NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 27 0 AAGGCCCCGACGCCCTGGCGG 0.701 NA 7 13 0 0 0 0 XPO7 23039 broad.mit.edu 37 8 21851879 21851879 + Silent SNP T T A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr8:21851879T>A uc003xaa.3 + 20 2256 c.2154T>A c.(2152-2154)ACT>ACA p.T718T XPO7_uc010lti.2_Silent_p.T727T|XPO7_uc010ltk.2_Silent_p.T719T NM_015024 NP_055839 Q9UIA9 XPO7_HUMAN exportin 7 isoform b 718 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1) 5 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) TACAGCGAACTCTAGTTGGCC 0.388 NA 18 35 0 0 0 0 ASH2L 9070 broad.mit.edu 37 8 37986388 37986388 + Silent SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr8:37986388G>A uc003xkt.3 + 12 1504 c.1446G>A c.(1444-1446)CAG>CAA p.Q482Q ASH2L_uc011lbk.1_Silent_p.Q343Q|ASH2L_uc003xku.3_Silent_p.Q388Q|ASH2L_uc010lwa.2_Silent_p.Q388Q NM_004674 NP_004665 Q9UBL3 ASH2L_HUMAN ash2-like isoform a 482 B30.2/SPRY. hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding ovary(1)|lung(1) 2 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) GCTATGGACAGGGAGACGTCC 0.443 NA 108 487 0 0 0 0 PDE7A 5150 broad.mit.edu 37 8 66695027 66695027 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr8:66695027G>A uc003xvq.2 - 2 202 c.190C>T c.(190-192)CGT>TGT p.R64C PDE7A_uc003xvr.2_Missense_Mutation_p.R64C|PDE7A_uc003xvp.2_Missense_Mutation_p.R38C NM_002604 NP_002595 Q13946 PDE7A_HUMAN phosphodiesterase 7A isoform b 64 cell fraction|cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding 0 Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238) Dyphylline(DB00651)|Ketotifen(DB00920) CCTAGCATACGAATGTATAAT 0.284 NA 11 15 0 0 0 0 ZHX2 22882 broad.mit.edu 37 8 123966105 123966105 + Silent SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr8:123966105C>T uc003ypk.1 + 3 2922 c.2355C>T c.(2353-2355)AAC>AAT p.N785N NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 785 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) GCGACGAGAACGAGGAGTCGA 0.612 NA 9 31 0 0 0 0 SLC24A2 25769 broad.mit.edu 37 9 19619581 19619581 + Splice_Site SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr9:19619581C>T uc003zoa.1 - 3 1140 c.1078_splice c.e3+1 p.E360_splice SLC24A2_uc003zob.1_Splice_Site_p.G360_splice NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN solute carrier family 24 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(3) 3 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) TTGATGTTTACCTTCGGCGAG 0.512 NA 46 155 0 0 0 0 C9orf23 138716 broad.mit.edu 37 9 34610878 34610878 + Missense_Mutation SNP G G C TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr9:34610878G>C uc003zuu.2 - 2 697 c.416C>G c.(415-417)CCC>CGC p.P139R C9orf23_uc003zuv.2_Missense_Mutation_p.P139R NM_148179 NP_680545 Q8N5L8 CI023_HUMAN hypothetical protein LOC138716 139 nucleic acid binding 0 all_epithelial(49;0.0863) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.0385) CAGGCCAGGGGGTGCTCCTGG 0.657 NA 26 65 0 0 0 0 MAPKAP1 79109 broad.mit.edu 37 9 128347842 128347842 + Silent SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr9:128347842C>T uc004bpv.2 - 5 996 c.663G>A c.(661-663)CCG>CCA p.P221P MAPKAP1_uc011lzt.1_Silent_p.P24P|MAPKAP1_uc010mwz.2_RNA|MAPKAP1_uc011lzu.1_Silent_p.P24P|MAPKAP1_uc011lzv.1_Silent_p.P24P|MAPKAP1_uc004bpw.2_Silent_p.P29P|MAPKAP1_uc004bpx.2_Silent_p.P29P|MAPKAP1_uc004bpy.2_Silent_p.P221P|MAPKAP1_uc004bpz.2_Silent_p.P221P|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc010mxb.1_Silent_p.P24P|MAPKAP1_uc004bqa.2_Silent_p.P221P|MAPKAP1_uc010mxc.1_Silent_p.P93P NM_001006617 NP_001006618 Q9BPZ7 SIN1_HUMAN mitogen-activated protein kinase associated 221 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane Ras GTPase binding ovary(2)|lung(2) 4 ACTTGAGCTTCGGCTCCCGTC 0.532 NA 26 111 0 0 0 0 BAT2L1 84726 broad.mit.edu 37 9 134367624 134367624 + Silent SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr9:134367624C>T uc004can.3 + 29 6505 c.6450C>T c.(6448-6450)CCC>CCT p.P2150P BAT2L1_uc004cao.3_Silent_p.P1507P|BAT2L1_uc004cap.3_Silent_p.P296P|BAT2L1_uc011mch.1_Silent_p.P73P NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 2150 protein binding 0 CAGGAGGCCCCGTGCCATCGC 0.552 NA 15 88 0 0 0 0 EPN2 22905 broad.mit.edu 37 17 19232949 19232950 + Frame_Shift_Ins INS - - A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr17:19232949_19232950insA uc002gvd.3 + 9 1848_1849 c.1400_1401insA c.(1399-1401)TCAfs p.S467fs EPN2_uc010cql.1_Frame_Shift_Ins_p.S176fs|EPN2_uc002gve.3_Frame_Shift_Ins_p.S410fs|EPN2_uc002gvf.3_Frame_Shift_Ins_p.S182fs|EPN2_uc010vyo.1_Frame_Shift_Ins_p.S175fs|EPN2_uc010vyp.1_Frame_Shift_Ins_p.S403fs|EPN2_uc010vyq.1_Frame_Shift_Ins_p.S404fs|EPN2_uc002gvh.1_Frame_Shift_Ins_p.S467fs|EPN2_uc002gvj.3_Frame_Shift_Ins_p.S130fs NM_014964 NP_055779 O95208 EPN2_HUMAN epsin 2 isoform b 467 6 X 3 AA repeats of [DE]-P-W. endocytosis lipid binding skin(1) 1 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) CTTCGGACTTCAAAAAAAACAG 0.396 NA 7 139 --- --- --- --- NA NA NA NA TBC1D3B 414059 broad.mit.edu 37 17 34499240 34499240 + Frame_Shift_Del DEL C C - TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr17:34499240delC uc002hky.2 - 7 621 c.471delG c.(469-471)ATGfs p.M157fs uc002hla.1_5'Flank|uc002hlc.2_5'Flank NM_001001417 NP_001001417 Q8IZP1 TBC3A_HUMAN TBC1 domain family, member 3B 157 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCCTGAAGAACATATGCTTCC 0.562 NA 48 1435 --- --- --- --- NA NA NA NA HLA-A 3105 broad.mit.edu 37 6 29911160 29911179 + Frame_Shift_Del DEL CCTGCGCTCTTGGACCGCGG CCTGCGCTCTTGGACCGCGG - rs41552413 TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr6:29911160_29911179delCCTGCGCTCTTGGACCGCGG uc003nol.2 + 3 459_478 c.459_478delCCTGCGCTCTTGGACCGCGG c.(457-480)GACCTGCGCTCTTGGACCGCGGCGfs p.D153fs HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_RNA|HLA-A_uc010jrq.2_Frame_Shift_Del_p.D32fs|HLA-A_uc003nok.2_Frame_Shift_Del_p.D32fs|HLA-A_uc003non.2_Frame_Shift_Del_p.D153fs|HLA-A_uc003noo.2_Frame_Shift_Del_p.D153fs|HLA-A_uc010jrr.2_Frame_Shift_Del_p.D153fs|HLA-A_uc003nom.2_Frame_Shift_Del_p.D32fs|HLA-A_uc010klp.2_Frame_Shift_Del_p.D125fs|HLA-A_uc011dmc.1_Frame_Shift_Del_p.D32fs|HLA-A_uc011dmd.1_Frame_Shift_Del_p.D32fs NM_002116 NP_002107 P30443 1A01_HUMAN major histocompatibility complex, class I, A 153_160 Extracellular (Potential).|Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 TGAACGAGGACCTGCGCTCTTGGACCGCGGCGGACATGGC 0.655 NA Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of Multiple Myeloma(9;0.094) 14 25 --- --- --- --- NA NA NA NA TTLL2 83887 broad.mit.edu 37 6 167754366 167754367 + Frame_Shift_Ins INS - - T rs150247166 TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr6:167754366_167754367insT uc003qvs.1 + 3 1066_1067 c.978_979insT c.(976-981)AGATTTfs p.R326fs TTLL2_uc011egr.1_RNA NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 326_327 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) CGCTCAGCAGATTTTTTTCCTA 0.446 NA 82 161 --- --- --- --- NA NA NA NA