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 ZBTB8A 653121 broad.mit.edu 37 1 33060694 33060694 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr1:33060694C>A uc001bvn.2 + 4 1348 c.863C>A c.(862-864)ACA>AAA p.T288K ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_Missense_Mutation_p.T288K NM_001040441 NP_001035531 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 288 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCGTACTGCACACATGTGGTG 0.453000 TMEM125 128218 broad.mit.edu 37 1 43738884 43738884 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr1:43738884G>A uc001cir.2 + 4 1061 c.491G>A c.(490-492)GGC>GAC p.G164D EBNA1BP2_uc001cio.2_5'Flank|TMEM125_uc001cis.2_Missense_Mutation_p.G164D NM_144626 NP_653227 Q96AQ2 TM125_HUMAN transmembrane protein 125 164 Helical; (Potential). integral to membrane breast(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TTGCTGCTGGGCCTGCTGCTG 0.677000 NASP 4678 broad.mit.edu 37 1 46073520 46073520 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr1:46073520G>A uc001coi.1 + 6 1039 c.937G>A c.(937-939)GAG>AAG p.E313K NASP_uc010olq.1_Missense_Mutation_p.E276K|NASP_uc001coh.1_Missense_Mutation_p.E315K|NASP_uc001coj.1_Intron|NASP_uc010olr.1_Missense_Mutation_p.E249K|NASP_uc001cok.1_Missense_Mutation_p.E196K NM_002482 NP_002473 P49321 NASP_HUMAN nuclear autoantigenic sperm protein isoform 2 313 Glu-rich (acidic). blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport cytoplasm|nucleus Hsp90 protein binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211) GGGTGGGGACGAGCCAGAGGA 0.532000 IFI44L 10964 broad.mit.edu 37 1 79093939 79093939 + Silent SNP G G T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr1:79093939G>T uc010oro.1 + 2 518 c.339G>T c.(337-339)GTG>GTT p.V113V IFI44L_uc010orp.1_Intron|IFI44L_uc010orq.1_Intron NM_006820 NP_006811 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 113 cytoplasm 0 AGCAACTGGTGTGTCGTTTAT 0.299000 EVI5 7813 broad.mit.edu 37 1 92979379 92979379 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr1:92979379C>T uc001dox.2 - 18 2277 c.2267G>A c.(2266-2268)GGT>GAT p.G756D EVI5_uc010otf.1_Missense_Mutation_p.G767D NM_005665 NP_005656 O60447 EVI5_HUMAN ecotropic viral integration site 5 756 Targeting to the centrosomes.|Interaction with AURKB and INCENP. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity ovary(1)|breast(1) 2 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) CAAAGGAAAACCAACACCAGT 0.438000 VAV3 10451 broad.mit.edu 37 1 108145689 108145689 + Silent SNP T T C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr1:108145689T>C uc001dvk.1 - 23 2166 c.2112A>G c.(2110-2112)GGA>GGG p.G704G VAV3_uc010ouu.1_Silent_p.G108G|VAV3_uc001dvj.1_Silent_p.G144G|VAV3_uc010ouv.1_Silent_p.G108G|VAV3_uc010ouw.1_Silent_p.G704G NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor isoform 704 SH2. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(5)|lung(2)|breast(2) 9 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) TTGCATATTCTCCTGACTCTT 0.373000 KCND3 3752 broad.mit.edu 37 1 112525240 112525240 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr1:112525240G>A uc001ebu.1 - 2 589 c.109C>T c.(109-111)CGG>TGG p.R37W KCND3_uc001ebv.1_Missense_Mutation_p.R37W NM_004980 NP_004971 Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related 37 Cytoplasmic (Potential). sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding ovary(2)|large_intestine(1) 3 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) TCATCCTGCCGCTTGTTCTTG 0.682000 SYT6 148281 broad.mit.edu 37 1 114640394 114640394 + Silent SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr1:114640394G>A uc001eev.2 - 6 1465 c.1215C>T c.(1213-1215)ATC>ATT p.I405I SYT6_uc001eeu.2_Silent_p.I50I NM_205848 NP_995320 Q5T7P8 SYT6_HUMAN synaptotagmin VI 490 Cytoplasmic (Potential).|Necessary for cell membrane association (isoform 2) (By similarity). acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GCCAGTGTGCGATGGGCTTCC 0.577000 SPAG17 200162 broad.mit.edu 37 1 118538991 118538991 + Splice_Site SNP A A C rs140829839 TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr1:118538991A>C uc001ehk.2 - 34 5121 c.5053_splice c.e34+1 p.G1685_splice NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 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) TGGGTCCTCTACCTGGCTGTT 0.423000 FLG 2312 broad.mit.edu 37 1 152275264 152275264 + Missense_Mutation SNP T T C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr1:152275264T>C uc001ezu.1 - 3 12134 c.12098A>G c.(12097-12099)AAT>AGT p.N4033S NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 4033 keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGGTCCTTATTAATATACGT 0.353000 Ichthyosis OR6K6 128371 broad.mit.edu 37 1 158725554 158725554 + Missense_Mutation SNP T T C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr1:158725554T>C uc001fsw.1 + 1 949 c.949T>C c.(949-951)TAT>CAT p.Y317H NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, 317 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_hematologic(112;0.0378) CCCCATCATCTATAGCCTGAA 0.443000 OR10J1 26476 broad.mit.edu 37 1 159410409 159410409 + Silent SNP C C G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr1:159410409C>G uc010piv.1 + 1 861 c.861C>G c.(859-861)ACC>ACG p.T287T uc001fts.3_Intron NM_012351 NP_036483 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, 287 Helical; Name=7; (Potential). sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0429) TCTCGGTGACCTACACTGTCA 0.507000 NME7 29922 broad.mit.edu 37 1 169200055 169200055 + Silent SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr1:169200055G>A uc001gfu.2 - 10 1129 c.891C>T c.(889-891)GAC>GAT p.D297D NME7_uc010plq.1_RNA|NME7_uc001gft.2_Silent_p.D261D NM_013330 NP_037462 Q9Y5B8 NDK7_HUMAN nucleoside diphosphate kinase 7 isoform a 297 CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process centrosome ATP binding|metal ion binding|nucleoside diphosphate kinase activity central_nervous_system(1) 1 all_hematologic(923;0.208) CTGTCACCATGTCCTATGATA 0.249000 KIFAP3 22920 broad.mit.edu 37 1 170015873 170015873 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr1:170015873C>T uc001ggv.2 - 3 570 c.299G>A c.(298-300)CGT>CAT p.R100H KIFAP3_uc010ply.1_Translation_Start_Site|KIFAP3_uc001ggw.1_Missense_Mutation_p.R56H NM_014970 NP_055785 Q92845 KIFA3_HUMAN kinesin-associated protein 3 100 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CAATGAATCACGGCGGTTCTG 0.368000 ESRRG 2104 broad.mit.edu 37 1 216692635 216692635 + Missense_Mutation SNP T T A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr1:216692635T>A uc001hkw.1 - 6 1157 c.991A>T c.(991-993)ATA>TTA p.I331L ESRRG_uc001hky.1_Missense_Mutation_p.I308L|ESRRG_uc009xdp.1_Missense_Mutation_p.I308L|ESRRG_uc001hkz.1_Missense_Mutation_p.I269L|ESRRG_uc010puc.1_Missense_Mutation_p.I308L|ESRRG_uc001hla.1_Missense_Mutation_p.I308L|ESRRG_uc001hlb.1_Missense_Mutation_p.I308L|ESRRG_uc010pud.1_Missense_Mutation_p.I139L|ESRRG_uc001hlc.1_Missense_Mutation_p.I308L|ESRRG_uc001hld.1_Missense_Mutation_p.I308L|ESRRG_uc001hkx.1_Missense_Mutation_p.I343L|ESRRG_uc009xdo.1_Missense_Mutation_p.I308L|ESRRG_uc001hle.1_Missense_Mutation_p.I308L NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 331 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) TCGTCCATTATATAATCGTCT 0.418000 ARID4B 51742 broad.mit.edu 37 1 235403717 235403717 + Missense_Mutation SNP T T A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr1:235403717T>A uc001hwq.2 - 8 994 c.496A>T c.(496-498)AGG>TGG p.R166W ARID4B_uc001hwr.2_Missense_Mutation_p.R166W|ARID4B_uc001hws.3_Missense_Mutation_p.R166W|ARID4B_uc001hwu.1_Missense_Mutation_p.R166W|ARID4B_uc001hwt.3_5'UTR NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 166 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) ATCTGTTTCCTATCATCCTCA 0.368000 WDR64 128025 broad.mit.edu 37 1 241912907 241912907 + Silent SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr1:241912907G>A uc001hzf.1 + 8 936 c.783G>A c.(781-783)GGG>GGA p.G261G WDR64_uc001hzg.1_Silent_p.G7G NM_144625 NP_653226 B1ANS9 WDR64_HUMAN WD repeat domain 64 541 skin(1) 1 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) TGCCGGAGGGGAAAGACTGGA 0.522000 PCDH15 65217 broad.mit.edu 37 10 55581798 55581798 + Silent SNP T T G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr10:55581798T>G uc001jju.1 - 33 6083 c.5688A>C c.(5686-5688)GTA>GTC p.V1896V PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Silent_p.V750V|PCDH15_uc010qhv.1_Silent_p.V1893V|PCDH15_uc010qhw.1_Silent_p.V1856V|PCDH15_uc010qhx.1_Silent_p.V1827V|PCDH15_uc010qhy.1_Silent_p.V1903V|PCDH15_uc010qhz.1_Silent_p.V1898V|PCDH15_uc010qia.1_Silent_p.V1876V|PCDH15_uc010qib.1_Silent_p.V1873V NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1896 Cytoplasmic (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) ACATGTTAGCTACTGATTTTT 0.368000 HNSCC(58;0.16) PCDH15 65217 broad.mit.edu 37 10 55581808 55581808 + Missense_Mutation SNP T T C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr10:55581808T>C uc001jju.1 - 33 6073 c.5678A>G c.(5677-5679)GAA>GGA p.E1893G PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.E747G|PCDH15_uc010qhv.1_Missense_Mutation_p.E1890G|PCDH15_uc010qhw.1_Missense_Mutation_p.E1853G|PCDH15_uc010qhx.1_Missense_Mutation_p.E1824G|PCDH15_uc010qhy.1_Missense_Mutation_p.E1900G|PCDH15_uc010qhz.1_Missense_Mutation_p.E1895G|PCDH15_uc010qia.1_Missense_Mutation_p.E1873G|PCDH15_uc010qib.1_Missense_Mutation_p.E1870G NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1893 Cytoplasmic (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TACTGATTTTTCAAGTTCTGC 0.373000 HNSCC(58;0.16) ANK3 288 broad.mit.edu 37 10 61894095 61894095 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr10:61894095C>A uc001jky.2 - 25 2967 c.2775G>T c.(2773-2775)TTG>TTT p.L925F ANK3_uc001jkw.2_Missense_Mutation_p.L59F|ANK3_uc009xpa.2_Missense_Mutation_p.L59F|ANK3_uc001jkx.2_Missense_Mutation_p.L103F|ANK3_uc010qih.1_Missense_Mutation_p.L926F|ANK3_uc001jkz.3_Missense_Mutation_p.L919F|ANK3_uc001jla.1_5'UTR|ANK3_uc001jlb.1_Missense_Mutation_p.L432F NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 925 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 AGCTTCTGTTCAAGGTGTAAG 0.403000 TET1 80312 broad.mit.edu 37 10 70450738 70450738 + Missense_Mutation SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr10:70450738G>C uc001jok.3 + 12 6083 c.5578G>C c.(5578-5580)GCT>CCT p.A1860P NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 1860 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 AGCCACACCAGCTCCACTGAA 0.542000 HELLS 3070 broad.mit.edu 37 10 96354483 96354483 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr10:96354483G>A uc001kjt.2 + 19 2225 c.2120G>A c.(2119-2121)AGA>AAA p.R707K HELLS_uc001kjs.2_Missense_Mutation_p.R691K|HELLS_uc009xul.2_Missense_Mutation_p.R609K|HELLS_uc009xum.2_Missense_Mutation_p.R577K|HELLS_uc009xun.2_Missense_Mutation_p.R583K|HELLS_uc009xuo.2_Missense_Mutation_p.R753K|HELLS_uc001kju.2_Missense_Mutation_p.R346K|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_Missense_Mutation_p.R569K|HELLS_uc009xur.2_RNA NM_018063 NP_060533 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 707 Helicase C-terminal. cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity ovary(1)|kidney(1) 2 Colorectal(252;0.0429) all cancers(201;2.13e-05) GCCCAGGATAGATGTCATAGA 0.358000 DHDPSL 112817 broad.mit.edu 37 10 99371384 99371384 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr10:99371384C>T uc001kny.2 + 7 1311 c.952C>T c.(952-954)CGC>TGC p.R318C DHDPSL_uc001knz.2_Missense_Mutation_p.R155C|PI4K2A_uc010qoy.1_Intron NM_138413 NP_612422 Q86XE5 HOGA1_HUMAN DHDPS-like protein isoform 1 318 glyoxylate catabolic process mitochondrion 4-hydroxy-2-oxoglutarate aldolase activity 0 GGAGGCACTGCGCATGGATTT 0.632000 OR6A2 8590 broad.mit.edu 37 11 6816802 6816802 + Silent SNP G G T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr11:6816802G>T uc001mes.1 - 1 338 c.138C>A c.(136-138)ATC>ATA p.I46I NM_003696 NP_003687 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, 46 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TTGCCATAATGATGAGTGTGT 0.458000 HIPK3 10114 broad.mit.edu 37 11 33375082 33375082 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr11:33375082C>A uc001mul.1 + 17 3886 c.3616C>A c.(3616-3618)CCA>ACA p.P1206T HIPK3_uc001mum.1_Missense_Mutation_p.P1185T|HIPK3_uc009yjv.1_Missense_Mutation_p.P1185T NM_005734 NP_005725 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 isoform 1206 anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1) 5 TCCACTGAGTCCAACAAAACT 0.363000 F2 2147 broad.mit.edu 37 11 46750965 46750965 + Missense_Mutation SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr11:46750965G>C uc001ndf.3 + 12 1551 c.1508G>C c.(1507-1509)GGC>GCC p.G503A F2_uc001ndg.3_RNA NM_000506 NP_000497 P00734 THRB_HUMAN coagulation factor II preproprotein 503 Peptidase S1. activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity ovary(3) 3 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) CGGGTGACAGGCTGGGGCAAC 0.647000 LRP4 4038 broad.mit.edu 37 11 46912013 46912013 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr11:46912013G>A uc001ndn.3 - 14 1876 c.1730C>T c.(1729-1731)CCC>CTC p.P577L NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 577 Extracellular (Potential).|LDL-receptor class B 3. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) CTCAATACGGGGGGTGTTGCC 0.537000 OREG0020948 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TNKS1BP1 85456 broad.mit.edu 37 11 57080878 57080878 + Silent SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr11:57080878G>A uc001njr.2 - 4 1596 c.1284C>T c.(1282-1284)TTC>TTT p.F428F TNKS1BP1_uc001njs.2_Silent_p.F428F|TNKS1BP1_uc009ymd.1_5'UTR NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 428 Pro-rich.|Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) CACCTTCAGAGAATCGGCGCT 0.657000 IGHMBP2 3508 broad.mit.edu 37 11 68679026 68679026 + Silent SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr11:68679026G>C uc001ook.1 + 5 768 c.666G>C c.(664-666)ACG>ACC p.T222T IGHMBP2_uc001ooj.1_RNA NM_002180 NP_002171 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 222 cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GGAAAACCACGACTGTGGTTG 0.527000 C11orf30 56946 broad.mit.edu 37 11 76255390 76255390 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr11:76255390C>T uc001oxl.2 + 19 2940 c.2797C>T c.(2797-2799)CCT>TCT p.P933S C11orf30_uc001oxm.2_Missense_Mutation_p.P835S|C11orf30_uc010rsb.1_Missense_Mutation_p.P948S|C11orf30_uc010rsc.1_Missense_Mutation_p.P934S|C11orf30_uc001oxn.2_Missense_Mutation_p.P934S|C11orf30_uc010rsd.1_Missense_Mutation_p.P842S|C11orf30_uc001oxo.1_Missense_Mutation_p.P287S|C11orf30_uc010rse.1_Missense_Mutation_p.P180S|C11orf30_uc001oxp.2_Missense_Mutation_p.P33S NM_020193 NP_064578 Q7Z589 EMSY_HUMAN EMSY protein 933 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 CACTTTAGACCCTCAGACAGG 0.493000 FAT3 120114 broad.mit.edu 37 11 92087849 92087849 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr11:92087849C>A uc001pdj.3 + 1 2588 c.2571C>A c.(2569-2571)GAC>GAA p.D857E NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 857 Cadherin 8.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AAGCCAGAGACAAAGACTTAG 0.398000 TCGA Ovarian(4;0.039) CNTN5 53942 broad.mit.edu 37 11 99690317 99690317 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr11:99690317C>A uc001pga.2 + 4 437 c.98C>A c.(97-99)GCT>GAT p.A33D CNTN5_uc009ywv.1_Missense_Mutation_p.A33D|CNTN5_uc001pfz.2_Missense_Mutation_p.A33D|CNTN5_uc001pgb.2_Intron NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 33 cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TCATATGCTGCTTTGTTAAGA 0.348000 GRIA4 2893 broad.mit.edu 37 11 105850358 105850358 + Silent SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr11:105850358G>C uc001pix.2 + 17 3047 c.2601G>C c.(2599-2601)GTG>GTC p.V867V GRIA4_uc001piw.2_3'UTR|GRIA4_uc009yxl.1_RNA NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 867 Cytoplasmic (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) CTGGGAGTGTGGGAGAGAATG 0.507000 CUL5 8065 broad.mit.edu 37 11 107965145 107965145 + Missense_Mutation SNP A A G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr11:107965145A>G uc001pjv.2 + 14 2138 c.1471A>G c.(1471-1473)AAC>GAC p.N491D CUL5_uc001pju.2_RNA NM_003478 NP_003469 Q93034 CUL5_HUMAN Vasopressin-activated calcium-mobilizing 491 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding ovary(1) 1 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) GGATTATGTAAACAAGCTTGC 0.299000 BUD13 84811 broad.mit.edu 37 11 116619288 116619288 + Silent SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr11:116619288G>C uc001ppn.2 - 10 1804 c.1770C>G c.(1768-1770)TCC>TCG p.S590S BUD13_uc001ppo.2_Silent_p.S456S NM_032725 NP_116114 Q9BRD0 BUD13_HUMAN BUD13 homolog isoform 1 590 large_intestine(1)|pancreas(1) 2 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) CAAATCCATTGGATCTGCAAT 0.433000 ARHGEF12 23365 broad.mit.edu 37 11 120352120 120352120 + Silent SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr11:120352120C>A uc001pxl.1 + 39 4396 c.4389C>A c.(4387-4389)TCC>TCA p.S1463S ARHGEF12_uc009zau.1_Silent_p.S1360S NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1463 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) ATACTCACTCCGATGGGGCAA 0.537000 T MLL AML OR8B3 390271 broad.mit.edu 37 11 124266663 124266663 + Silent SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr11:124266663G>A uc010saj.1 - 1 585 c.585C>T c.(583-585)AAC>AAT p.N195N OR8B2_uc001qab.3_Intron NM_001005467 NP_001005467 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, 195 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) CAACCACCTCGTTGACATAGG 0.428000 GLB1L2 89944 broad.mit.edu 37 11 134238567 134238567 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr11:134238567G>A uc001qhp.2 + 10 1107 c.919G>A c.(919-921)GAC>AAC p.D307N GLB1L2_uc009zdg.1_RNA NM_138342 NP_612351 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 precursor 307 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(1)|pancreas(1)|skin(1) 3 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) TGCCATTGTGGACGCCGGCTC 0.527000 KCNA5 3741 broad.mit.edu 37 12 5154411 5154411 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr12:5154411C>A uc001qni.2 + 1 1327 c.1098C>A c.(1096-1098)TTC>TTA p.F366L NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 366 Helical; Name=Segment S3; (Potential). Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 TGGCCATCTTCCCCTACTTCA 0.622000 LOH12CR1 118426 broad.mit.edu 37 12 12588569 12588569 + Missense_Mutation SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr12:12588569G>C uc001ral.2 + 3 576 c.210G>C c.(208-210)TTG>TTC p.L70F LOH12CR1_uc009zhu.2_Missense_Mutation_p.L22F NM_058169 NP_477517 Q969J3 L12R1_HUMAN LOH1CR12 70 ovary(1) 1 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.0205) AAGGGCTATTGAGTGGCCAGA 0.403000 GPRC5A 9052 broad.mit.edu 37 12 13061936 13061936 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr12:13061936C>T uc001rba.2 + 2 1403 c.753C>T c.(751-753)GCC>GCT p.A251A GPRC5A_uc001raz.2_Silent_p.A251A NM_003979 NP_003970 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, 251 Helical; Name=7; (Potential). cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity 0 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) CCTTGGCTGCCAATGGCTGGG 0.537000 CASC1 55259 broad.mit.edu 37 12 25263069 25263069 + Missense_Mutation SNP C C T rs150985883 TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr12:25263069C>T uc001rgl.2 - 14 1949 c.1867G>A c.(1867-1869)GTA>ATA p.V623I CASC1_uc001rgk.2_Missense_Mutation_p.V629I|CASC1_uc001rgm.3_Missense_Mutation_p.V687I|CASC1_uc001rgj.2_Missense_Mutation_p.V583I|CASC1_uc010sje.1_Missense_Mutation_p.V564I|CASC1_uc010sjf.1_Missense_Mutation_p.V511I NM_001082973 NP_001076442 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 isoform b 623 ovary(2) 2 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) ACCTTAAATACGACTTTTGTA 0.373000 CPNE8 144402 broad.mit.edu 37 12 39047804 39047804 + Silent SNP T T C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr12:39047804T>C uc001rls.1 - 20 1659 c.1575A>G c.(1573-1575)AAA>AAG p.K525K CPNE8_uc001rlr.1_Silent_p.K184K NM_153634 NP_705898 Q86YQ8 CPNE8_HUMAN copine VIII 525 pancreas(1) 1 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) CTAGGACATCTTTAGCCAATC 0.463000 CSRNP2 81566 broad.mit.edu 37 12 51470289 51470289 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr12:51470289C>T uc001rxu.1 - 2 354 c.56G>A c.(55-57)GGC>GAC p.G19D NM_030809 NP_110436 Q9H175 CSRN2_HUMAN TGF-beta induced apoptosis protein 12 19 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 AACTGATGAGCCCACATCCAC 0.532000 KRT73 319101 broad.mit.edu 37 12 53009973 53009973 + Missense_Mutation SNP T T A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr12:53009973T>A uc001sas.2 - 2 674 c.639A>T c.(637-639)GAA>GAT p.E213D NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 213 Coil 1B.|Rod. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) CCTCCACCACTTCGCGCACGC 0.622000 ESYT1 23344 broad.mit.edu 37 12 56525997 56525997 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr12:56525997C>T uc001sjq.2 + 8 915 c.865C>T c.(865-867)CTC>TTC p.L289F ESYT1_uc001sjr.2_Missense_Mutation_p.L289F NM_015292 NP_056107 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 289 integral to membrane ovary(4)|skin(1) 5 ATTCAGCTCACTCTCTGACAC 0.507000 COQ10A 93058 broad.mit.edu 37 12 56664067 56664067 + Missense_Mutation SNP G G A rs148374703 by1000genomes TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr12:56664067G>A uc001sko.3 + 5 971 c.710G>A c.(709-711)CGT>CAT p.R237H COQ10A_uc001skp.3_Missense_Mutation_p.R205H|COQ10A_uc001skq.3_Missense_Mutation_p.R220H NM_144576 NP_653177 Q96MF6 CQ10A_HUMAN coenzyme Q10 homolog A isoform a 237 mitochondrial inner membrane ovary(1) 1 GCCATCCCCCGTGAACTGATG 0.507000 NAV3 89795 broad.mit.edu 37 12 78513117 78513117 + Silent SNP T T C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr12:78513117T>C uc001syp.2 + 15 3314 c.3141T>C c.(3139-3141)GAT>GAC p.D1047D NAV3_uc001syo.2_Silent_p.D1047D|NAV3_uc010sub.1_Silent_p.D547D|NAV3_uc009zsf.2_Silent_p.D55D NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1047 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.D1047N(1) large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 GCAGTGGAGATGAAGGGAAAA 0.478000 HNSCC(70;0.22) UBE3B 89910 broad.mit.edu 37 12 109972568 109972568 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr12:109972568C>T uc001top.2 + 28 3791 c.3188C>T c.(3187-3189)ACG>ATG p.T1063M UBE3B_uc001toq.2_Missense_Mutation_p.T1063M|UBE3B_uc001tos.2_Missense_Mutation_p.T490M|UBE3B_uc001tot.2_Missense_Mutation_p.T181M|UBE3B_uc010sxp.1_3'UTR NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 1063 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 AGCATGAACACGGGCTTTGAA 0.617000 GLTP 51228 broad.mit.edu 37 12 110318161 110318161 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr12:110318161G>A uc001tpm.2 - 1 133 c.19C>T c.(19-21)CAC>TAC p.H7Y GLTP_uc010sxt.1_RNA NM_016433 NP_057517 Q9NZD2 GLTP_HUMAN glycolipid transfer protein 7 cytoplasm glycolipid binding|glycolipid transporter activity 0 Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122) BRCA - Breast invasive adenocarcinoma(302;0.0025) TTCAGCAAGTGTTCGGCCAGC 0.483000 TCHP 84260 broad.mit.edu 37 12 110350867 110350867 + Missense_Mutation SNP T T A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr12:110350867T>A uc001tpn.2 + 10 1277 c.1124T>A c.(1123-1125)CTG>CAG p.L375Q TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Missense_Mutation_p.L375Q NM_001143852 NP_001137324 Q9BT92 TCHP_HUMAN trichoplein 375 Trichohyalin/plectin homology domain.|Glu-rich.|Interaction with keratin proteins. apoptosis|negative regulation of cell growth apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane protein binding skin(1) 1 CGGGACAGACTGATGAGCGAG 0.607000 RPLP0 6175 broad.mit.edu 37 12 120635143 120635143 + Silent SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr12:120635143G>C uc001txp.2 - 7 1011 c.774C>G c.(772-774)ACC>ACG p.T258T GCN1L1_uc001txo.2_5'Flank|RPLP0_uc001txq.2_Silent_p.T258T|RPLP0_uc001txr.2_Silent_p.T196T NM_053275 NP_444505 P05388 RLA0_HUMAN ribosomal protein P0 258 endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus protein binding|RNA binding|structural constituent of ribosome ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAAGTGGGAAGGTGTAATCCG 0.498000 PCDH9 5101 broad.mit.edu 37 13 67800353 67800353 + Silent SNP T T C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr13:67800353T>C uc001vik.2 - 2 2912 c.2220A>G c.(2218-2220)AAA>AAG p.K740K PCDH9_uc001vil.2_Silent_p.K740K|PCDH9_uc010thl.1_Silent_p.K740K|PCDH9_uc001vin.3_Silent_p.K740K NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 740 Extracellular (Potential).|Cadherin 7. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TAGGTGCTGGTTTTTCTTCCA 0.423000 LMO7 4008 broad.mit.edu 37 13 76381790 76381790 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr13:76381790C>T uc001vjv.2 + 7 1432 c.672C>T c.(670-672)GAC>GAT p.D224D LMO7_uc010thv.1_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc010thw.1_Intron|LMO7_uc001vjw.1_Silent_p.D130D NM_015842 NP_056667 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 2 509 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1)|prostate(1)|skin(1) 5 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) TGGATCCTGACTTAGAGAATG 0.463000 SLITRK6 84189 broad.mit.edu 37 13 86370408 86370408 + Missense_Mutation SNP A A C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr13:86370408A>C uc001vll.1 - 2 695 c.236T>G c.(235-237)CTT>CGT p.L79R SLITRK6_uc010afe.1_5'Flank NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 79 Extracellular (Potential). integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) ATTTGTGTGAAGCATCGTCAA 0.373000 GPC5 2262 broad.mit.edu 37 13 93518574 93518574 + Missense_Mutation SNP T T G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr13:93518574T>G uc010tif.1 + 8 1967 c.1601T>G c.(1600-1602)ATC>AGC p.I534S NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 534 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) GTAAAGCAAATCCATCAAACA 0.428000 NALCN 259232 broad.mit.edu 37 13 101717887 101717887 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr13:101717887C>T uc001vox.1 - 40 4662 c.4473G>A c.(4471-4473)AAG>AAA p.K1491K NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1491 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GCAGCAGGAACTTGACGCGGA 0.532000 CHD8 57680 broad.mit.edu 37 14 21862288 21862288 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr14:21862288C>T uc001was.1 - 32 4923 c.4829G>A c.(4828-4830)CGT>CAT p.R1610H CHD8_uc001war.1_Missense_Mutation_p.R1506H|SNORD9_uc001wat.1_5'Flank NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1889 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) CAATTCTATACGGTAGAGAGT 0.512000 NUBPL 80224 broad.mit.edu 37 14 32034253 32034253 + Missense_Mutation SNP C C T rs35433432 TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr14:32034253C>T uc001wrk.3 + 3 345 c.290C>T c.(289-291)TCG>TTG p.S97L NUBPL_uc010amj.2_RNA NM_025152 NP_079428 Q8TB37 NUBPL_HUMAN nucleotide binding protein-like 97 mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis mitochondrion 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding 0 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0102) GCGAACGATTCGGTAGGTGtt 0.244000 SRP54 6729 broad.mit.edu 37 14 35483028 35483028 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr14:35483028C>T uc001wso.2 + 10 1157 c.806C>T c.(805-807)CCG>CTG p.P269L SRP54_uc010tpp.1_Missense_Mutation_p.P220L|SRP54_uc010tpq.1_Missense_Mutation_p.P205L NM_003136 NP_003127 P61011 SRP54_HUMAN signal recognition particle 54kDa isoform 1 269 G-domain. GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding ovary(1) 1 Breast(36;0.0545)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243) GBM - Glioblastoma multiforme(112;0.0396) ACAAAAAGTCCGATTATTTTC 0.368000 SPTB 6710 broad.mit.edu 37 14 65251009 65251009 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr14:65251009C>T uc001xht.2 - 18 4012 c.3958G>A c.(3958-3960)GCA>ACA p.A1320T SPTB_uc001xhr.2_Missense_Mutation_p.A1320T|SPTB_uc001xhs.2_Missense_Mutation_p.A1320T|SPTB_uc001xhu.2_Missense_Mutation_p.A1320T|SPTB_uc010aqi.2_5'Flank NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 1320 Spectrin 10. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GCCAGCTCTGCCACAAACGCC 0.522000 OCA2 4948 broad.mit.edu 37 15 28260028 28260028 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr15:28260028G>A uc001zbh.3 - 9 1048 c.938C>T c.(937-939)GCT>GTT p.A313V OCA2_uc010ayv.2_Missense_Mutation_p.A313V NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 313 Extracellular (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) AAGAGGGACAGCCTGGGTCTG 0.577000 Oculocutaneous_Albinism TJP1 7082 broad.mit.edu 37 15 30019161 30019161 + Missense_Mutation SNP G G T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr15:30019161G>T uc001zcr.2 - 17 2610 c.2135C>A c.(2134-2136)GCA>GAA p.A712E TJP1_uc010azl.2_Missense_Mutation_p.A700E|TJP1_uc001zcq.2_Missense_Mutation_p.A716E|TJP1_uc001zcs.2_Missense_Mutation_p.A712E NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 712 Guanylate kinase-like. cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) ACGATCAACTGCATTTGGTGT 0.328000 FBN1 2200 broad.mit.edu 37 15 48829849 48829849 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr15:48829849C>T uc001zwx.1 - 7 1023 c.695G>A c.(694-696)CGC>CAC p.R232H NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 232 TB 1. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GAAGCCACGGCGGCAGGGGTG 0.552000 GABPB1 2553 broad.mit.edu 37 15 50570977 50570977 + Missense_Mutation SNP C C G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr15:50570977C>G uc001zyb.2 - 9 1464 c.1040G>C c.(1039-1041)AGA>ACA p.R347T GABPB1_uc001zya.2_Missense_Mutation_p.R335T|GABPB1_uc010ufg.1_Missense_Mutation_p.R271T NM_005254 NP_005245 Q06547 GABP1_HUMAN GA binding protein transcription factor, beta 347 positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1) 1 AAGAGCTTCTCTCTCCTAATT 0.338000 HERC1 8925 broad.mit.edu 37 15 63984726 63984726 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr15:63984726C>A uc002amp.2 - 31 5862 c.5714G>T c.(5713-5715)GGG>GTG p.G1905V NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 1905 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 TAAAAAATCCCCTAGATGGAG 0.388000 SNUPN 10073 broad.mit.edu 37 15 75901916 75901916 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr15:75901916C>T uc002ban.2 - 5 575 c.485G>A c.(484-486)CGA>CAA p.R162Q SNUPN_uc002bao.2_Missense_Mutation_p.R162Q|SNUPN_uc002bap.2_Missense_Mutation_p.R204Q|SNUPN_uc002baq.2_Missense_Mutation_p.R162Q|SNUPN_uc002bar.2_Missense_Mutation_p.R162Q|SNUPN_uc002bas.2_Missense_Mutation_p.R162Q NM_005701 NP_005692 O95149 SPN1_HUMAN snurportin 1 162 ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly cytosol|nuclear pore protein transporter activity|RNA cap binding pancreas(1) 1 TGTTGAGTTTCGCCTGTTGCC 0.403000 CCNF 899 broad.mit.edu 37 16 2482985 2482985 + Silent SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr16:2482985G>C uc002cqd.1 + 3 283 c.195G>C c.(193-195)CTG>CTC p.L65L CCNF_uc002cqe.1_Intron NM_001761 NP_001752 P41002 CCNF_HUMAN cyclin F 65 F-box. cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding central_nervous_system(1)|kidney(1) 2 Ovarian(90;0.17) TGAAGGACCTGGTGGACAACC 0.612000 KIAA0430 9665 broad.mit.edu 37 16 15719275 15719275 + Missense_Mutation SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr16:15719275G>C uc002ddr.2 - 8 2100 c.1907C>G c.(1906-1908)GCA>GGA p.A636G KIAA0430_uc002ddq.2_Intron|KIAA0430_uc010uzv.1_Missense_Mutation_p.A632G|KIAA0430_uc010uzw.1_Missense_Mutation_p.A634G NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN limkain b1 635 peroxisome nucleotide binding|RNA binding 0 TCCAGAATTTGCCTGTGACCC 0.373000 DNAH3 55567 broad.mit.edu 37 16 21108730 21108730 + Nonsense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr16:21108730G>A uc010vbe.1 - 18 2611 c.2611C>T c.(2611-2613)CAG>TAG p.Q871* NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 871 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) GACCACAGCTGCTCATAAGGT 0.483000 CDH1 999 broad.mit.edu 37 16 68847282 68847282 + Missense_Mutation SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr16:68847282G>C uc002ewg.1 + 9 1328 c.1204G>C c.(1204-1206)GAT>CAT p.D402H CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Intron NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 402 Cadherin 3.|Extracellular (Potential). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.Y380_K440del(5)|p.D402N(2) breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) GACTGATGCTGATGCCCCCAA 0.473000 Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer GLG1 2734 broad.mit.edu 37 16 74524978 74524978 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr16:74524978C>T uc002fcy.3 - 8 1420 c.1370G>A c.(1369-1371)CGA>CAA p.R457Q GLG1_uc002fcx.2_Missense_Mutation_p.R457Q|GLG1_uc002fcw.3_Missense_Mutation_p.R446Q|GLG1_uc002fcz.3_Intron NM_001145667 NP_001139139 Q92896 GSLG1_HUMAN golgi apparatus protein 1 isoform 3 457 Extracellular (Potential).|Cys-rich GLG1 6. Golgi membrane|integral to membrane receptor binding ovary(1)|breast(1) 2 CCGCCCTTTTCGATGTAATCC 0.507000 SCARF1 8578 broad.mit.edu 37 17 1538386 1538386 + Missense_Mutation SNP G G T rs144425748 byFrequency TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr17:1538386G>T uc002fsz.1 - 11 2209 c.2159C>A c.(2158-2160)GCG>GAG p.A720E SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.A634E NM_003693 NP_003684 Q14162 SREC_HUMAN scavenger receptor class F, member 1 isoform 1 720 Gly-rich.|Cytoplasmic (Potential). cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CTTGGCTTCCGCCTGGCCTTT 0.632000 ZZEF1 23140 broad.mit.edu 37 17 3920947 3920947 + Silent SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr17:3920947G>A uc002fxe.2 - 48 7783 c.7719C>T c.(7717-7719)AGC>AGT p.S2573S ZZEF1_uc002fxg.1_5'Flank NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 2573 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GCTGCAGTTCGCTCTCTGTGC 0.592000 ALOXE3 59344 broad.mit.edu 37 17 8012632 8012632 + Silent SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr17:8012632G>A uc010cnr.2 - 12 1792 c.1422C>T c.(1420-1422)ATC>ATT p.I474I ALOXE3_uc002gka.2_Silent_p.I630I|ALOXE3_uc010vuo.1_Silent_p.I606I NM_021628 NP_067641 Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 isoform 2 474 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity skin(3)|lung(1)|central_nervous_system(1) 5 TCATGAGGTAGATGAGGCCTT 0.652000 COX10 1352 broad.mit.edu 37 17 14110524 14110524 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr17:14110524C>T uc002gof.3 + 7 1530 c.1326C>T c.(1324-1326)CCC>CCT p.P442P COX10_uc010vvs.1_Silent_p.P225P|COX10_uc010vvt.1_Silent_p.P250P NM_001303 NP_001294 Q12887 COX10_HUMAN heme A:farnesyltransferase precursor 442 heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity 0 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) GGCCCCCTCCCAGCTGAGAGC 0.632000 FLCN 201163 broad.mit.edu 37 17 17119728 17119728 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr17:17119728C>T uc002gra.3 - 11 1770 c.1266G>A c.(1264-1266)CCG>CCA p.P422P PLD6_uc010cpn.2_RNA NM_144997 NP_659434 Q8NFG4 FLCN_HUMAN folliculin isoform 1 422 regulation of protein phosphorylation cytoplasm|nucleus|plasma membrane protein binding thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1) 3 TCTGCACGTGCGGGCTGAGCC 0.677000 Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer MLLT6 4302 broad.mit.edu 37 17 36865461 36865461 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr17:36865461C>A uc002hqi.3 + 5 403 c.390C>A c.(388-390)AGC>AGA p.S130R MLLT6_uc010wdr.1_Missense_Mutation_p.S130R|MLLT6_uc010cvm.1_Missense_Mutation_p.S130R NM_005937 NP_005928 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia 130 PHD-type 2. regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|prostate(1)|lung(1)|skin(1) 6 Breast(7;4.43e-21) GCCGGGAGAGCAAGGCGGCCT 0.642000 T MLL AL STAT3 6774 broad.mit.edu 37 17 40476813 40476813 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr17:40476813C>T uc002hzl.1 - 17 1756 c.1516G>A c.(1516-1518)GAG>AAG p.E506K STAT3_uc002hzk.1_Missense_Mutation_p.E506K|STAT3_uc002hzm.1_Missense_Mutation_p.E506K|STAT3_uc010wgh.1_Missense_Mutation_p.E408K|STAT3_uc002hzn.1_Missense_Mutation_p.E506K NM_139276 NP_644805 P40763 STAT3_HUMAN signal transducer and activator of transcription 506 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding ovary(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) CTCAGGACCTCGGCCACTTGA 0.502000 Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome PTRF 284119 broad.mit.edu 37 17 40557205 40557205 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr17:40557205C>T uc002hzo.2 - 2 832 c.673G>A c.(673-675)GGC>AGC p.G225S PTRF_uc010wgi.1_Missense_Mutation_p.G207S NM_012232 NP_036364 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 225 Potential. regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(1) 1 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) CGCCGCAGGCCGCTGCGCTTG 0.632000 DNAH17 8632 broad.mit.edu 37 17 76563093 76563093 + Missense_Mutation SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr17:76563093G>C uc002jvv.1 - 6 652 c.546C>G c.(544-546)GAC>GAG p.D182E RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGTCTCCAGGGTCCAAGGGAT 0.582000 OSBPL1A 114876 broad.mit.edu 37 18 21751427 21751427 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr18:21751427C>T uc002kve.2 - 23 2411 c.2237G>A c.(2236-2238)TGT>TAT p.C746Y OSBPL1A_uc002kvd.2_Missense_Mutation_p.C233Y|OSBPL1A_uc010xbc.1_Missense_Mutation_p.C364Y NM_080597 NP_542164 Q9BXW6 OSBL1_HUMAN oxysterol-binding protein-like 1A isoform B 746 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding ovary(4) 4 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) AAAAAGGCCACATGGCTTAAA 0.303000 DSC2 1824 broad.mit.edu 37 18 28651610 28651610 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr18:28651610C>A uc002kwl.3 - 13 2540 c.2086G>T c.(2086-2088)GCC>TCC p.A696S DSC2_uc002kwk.3_Missense_Mutation_p.A696S NM_024422 NP_077740 Q02487 DSC2_HUMAN desmocollin 2 isoform Dsc2a preproprotein 696 Helical; (Potential). homophilic cell adhesion desmosome|integral to membrane calcium ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(10;0.0241) GCAAGGATGGCCCACTTTCCA 0.403000 ZNF397 84307 broad.mit.edu 37 18 32822695 32822695 + Silent SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr18:32822695G>A uc010dmp.2 + 2 417 c.261G>A c.(259-261)GAG>GAA p.E87E ZNF397_uc002kyi.2_Silent_p.E87E|ZNF397_uc010dmq.2_Silent_p.E87E|ZNF397_uc010dmr.2_Intron|ZNF397_uc002kyj.2_Silent_p.E87E|ZNF397_uc002kyk.1_Silent_p.E87E NM_001135178 NP_001128650 Q8NF99 ZN397_HUMAN zinc finger protein 397 isoform 1 87 SCAN box. viral reproduction cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 ACACAAAGGAGCAGATCTTAG 0.532000 DCC 1630 broad.mit.edu 37 18 50734058 50734058 + Missense_Mutation SNP G G T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr18:50734058G>T uc002lfe.1 + 11 2319 c.1732G>T c.(1732-1734)GTT>TTT p.V578F DCC_uc010xdr.1_Missense_Mutation_p.V426F|DCC_uc010dpf.1_Missense_Mutation_p.V233F NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 578 Extracellular (Potential).|Fibronectin type-III 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GAATATAGAGGTTGATGGACT 0.383000 STXBP2 6813 broad.mit.edu 37 19 7704638 7704638 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr19:7704638G>A uc002mha.3 + 4 236 c.191G>A c.(190-192)CGG>CAG p.R64Q STXBP2_uc002mhb.3_Missense_Mutation_p.R64Q|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Missense_Mutation_p.R64Q|STXBP2_uc010dvk.2_Missense_Mutation_p.R32Q|STXBP2_uc002mhc.3_5'UTR|STXBP2_uc010dvl.1_5'Flank NM_006949 NP_008880 Q15833 STXB2_HUMAN syntaxin binding protein 2 isoform a 64 leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule syntaxin-3 binding central_nervous_system(1) 1 ATCAACAAACGGCGGGAACCC 0.498000 OR7D2 162998 broad.mit.edu 37 19 9297113 9297113 + Nonsense_Mutation SNP C C G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr19:9297113C>G uc002mkz.1 + 1 844 c.656C>G c.(655-657)TCA>TGA p.S219* NM_175883 NP_787079 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, 219 Cytoplasmic (Potential). regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|upper_aerodigestive_tract(1) 3 TTCTCTTATTCACGAATTGCT 0.458000 LDLR 3949 broad.mit.edu 37 19 11224398 11224398 + Missense_Mutation SNP G G A rs141673997 byFrequency TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr19:11224398G>A uc002mqk.3 + 10 1714 c.1546G>A c.(1546-1548)GGC>AGC p.G516S LDLR_uc010xlk.1_Missense_Mutation_p.G516S|LDLR_uc010xll.1_Missense_Mutation_p.G475S|LDLR_uc010xlm.1_Missense_Mutation_p.G369S|LDLR_uc010xln.1_Missense_Mutation_p.G389S|LDLR_uc010xlo.1_Missense_Mutation_p.G348S NM_000527 NP_000518 P01130 LDLR_HUMAN low density lipoprotein receptor precursor 516 Extracellular (Potential).|LDL-receptor class B 3. cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity ovary(2)|skin(2) 4 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CAGGGAGAACGGCTCCAAGCC 0.572000 NR2F6 2063 broad.mit.edu 37 19 17355924 17355924 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr19:17355924G>A uc002nfq.2 - 1 228 c.106C>T c.(106-108)CCC>TCC p.P36S NM_005234 NP_005225 P10588 NR2F6_HUMAN nuclear receptor subfamily 2, group F, member 6 36 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding 0 GCGGCACCGGGGGGCGAGGCC 0.771000 ZNF431 170959 broad.mit.edu 37 19 21365482 21365482 + Missense_Mutation SNP T T A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr19:21365482T>A uc002npp.2 + 5 523 c.376T>A c.(376-378)TTT>ATT p.F126I ZNF431_uc010ecq.2_Missense_Mutation_p.F35I|ZNF431_uc010ecr.2_Missense_Mutation_p.F127I NM_133473 NP_597730 Q8TF32 ZN431_HUMAN zinc finger protein 431 126 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2) 2 AAAAGATTCTTTTCAACAAGT 0.338000 UBA2 10054 broad.mit.edu 37 19 34935939 34935939 + Silent SNP A A C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr19:34935939A>C uc002nvk.2 + 8 754 c.684A>C c.(682-684)GCA>GCC p.A228A UBA2_uc010xrx.1_Silent_p.A101A|UBA2_uc002nvl.2_Silent_p.A132A NM_005499 NP_005490 Q9UBT2 SAE2_HUMAN SUMO-1 activating enzyme subunit 2 228 protein sumoylation nucleus ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity ovary(1) 1 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) GAGCTAGAGCATCTAATGAAG 0.358000 RYR1 6261 broad.mit.edu 37 19 38986957 38986957 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr19:38986957C>T uc002oit.2 + 40 6781 c.6651C>T c.(6649-6651)GGC>GGT p.G2217G RYR1_uc002oiu.2_Silent_p.G2217G|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2217 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCCTCGGGGGCGGCGAGTCCA 0.637000 PNMAL2 57469 broad.mit.edu 37 19 46998642 46998642 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr19:46998642C>T uc002pes.2 - 1 528 c.81G>A c.(79-81)CCG>CCA p.P27P uc002peu.1_3'UTR NM_020709 NP_065760 Q9ULN7 PNML2_HUMAN PNMA-like 2 27 central_nervous_system(1) 1 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) ccaggccctccgggatgccgg 0.065000 SCAF1 58506 broad.mit.edu 37 19 50156700 50156700 + Silent SNP A A C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr19:50156700A>C uc002poq.2 + 7 3178 c.3054A>C c.(3052-3054)CGA>CGC p.R1018R NM_021228 NP_067051 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 1018 Glu-rich. mRNA processing|RNA splicing nucleus RNA binding 0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) CTGGGGTCCGAGGTGGGGCgg 0.498000 ZNF415 55786 broad.mit.edu 37 19 53612111 53612111 + Missense_Mutation SNP G G T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr19:53612111G>T uc002qax.2 - 7 1680 c.1331C>A c.(1330-1332)ACT>AAT p.T444N ZNF415_uc002qat.2_Missense_Mutation_p.T408N|ZNF415_uc002qaw.2_Missense_Mutation_p.T396N|ZNF415_uc010yds.1_Missense_Mutation_p.T396N|ZNF415_uc010ydt.1_Missense_Mutation_p.T396N|ZNF415_uc002qau.2_Missense_Mutation_p.T383N|ZNF415_uc002qav.2_Missense_Mutation_p.T408N|ZNF415_uc002qba.2_Missense_Mutation_p.T166N|ZNF415_uc002qay.2_Missense_Mutation_p.T383N|ZNF415_uc002qaz.2_Missense_Mutation_p.T444N NR_028343 Q09FC8 ZN415_HUMAN RecName: Full=Zinc finger protein 415; 444 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.0191) AAGGCTTGAAGTCTGACTGAA 0.413000 ZNF813 126017 broad.mit.edu 37 19 53994018 53994018 + Missense_Mutation SNP C C G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr19:53994018C>G uc002qbu.2 + 4 660 c.532C>G c.(532-534)CAA>GAA p.Q178E ZNF813_uc010eqq.1_Intron NM_001004301 NP_001004301 Q6ZN06 ZN813_HUMAN zinc finger protein 813 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) TTCAACATCCCAAAGAATTTC 0.398000 MZF1 7593 broad.mit.edu 37 19 59073782 59073782 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr19:59073782C>T uc002qto.2 - 6 2423 c.1862G>A c.(1861-1863)GGC>GAC p.G621D LOC100131691_uc002qtm.2_Intron|MZF1_uc002qtn.2_Missense_Mutation_p.G621D NM_198055 NP_932172 P28698 MZF1_HUMAN zinc finger protein 42 isoform 2 621 viral reproduction nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182) GGGCTTTTCGCCGGTGTGTGT 0.672000 WDR35 57539 broad.mit.edu 37 2 20166586 20166586 + Missense_Mutation SNP T T A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr2:20166586T>A uc002rdi.2 - 10 1201 c.1093A>T c.(1093-1095)AAC>TAC p.N365Y WDR35_uc002rdj.2_Missense_Mutation_p.N365Y|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_5'UTR NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN WD repeat domain 35 isoform 1 365 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTTCATTGTTTTTCGTATCC 0.368000 PUM2 23369 broad.mit.edu 37 2 20507793 20507793 + Missense_Mutation SNP T T G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr2:20507793T>G uc002rds.1 - 6 852 c.829A>C c.(829-831)ACT>CCT p.T277P PUM2_uc002rdt.1_Missense_Mutation_p.T277P|PUM2_uc002rdr.2_Missense_Mutation_p.T216P|PUM2_uc010yjy.1_Missense_Mutation_p.T277P|PUM2_uc002rdu.1_Missense_Mutation_p.T277P|PUM2_uc010yjz.1_Missense_Mutation_p.T216P NM_015317 NP_056132 Q8TB72 PUM2_HUMAN pumilio homolog 2 277 regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGAGCTGCAGTTAACTGTTGA 0.358000 MFSD9 84804 broad.mit.edu 37 2 103335079 103335079 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr2:103335079C>T uc002tcb.2 - 6 1293 c.1225G>A c.(1225-1227)GGC>AGC p.G409S MFSD9_uc010fja.2_RNA NM_032718 NP_116107 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 409 transmembrane transport integral to membrane|plasma membrane transporter activity ovary(2)|breast(2) 4 ATAAGGGTGCCGCTGGCCTGG 0.667000 CKAP2L 150468 broad.mit.edu 37 2 113514603 113514603 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr2:113514603C>T uc002tie.2 - 4 424 c.345G>A c.(343-345)AAG>AAA p.K115K CKAP2L_uc002tif.2_5'UTR|CKAP2L_uc010yxp.1_5'UTR|CKAP2L_uc010yxq.1_5'UTR NM_152515 NP_689728 Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 115 centrosome 0 TGCTAGAAGGCTTAGAGTATG 0.448000 SCN3A 6328 broad.mit.edu 37 2 166011006 166011006 + Missense_Mutation SNP G G T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr2:166011006G>T uc002ucx.2 - 11 1828 c.1336C>A c.(1336-1338)CAG>AAG p.Q446K SCN3A_uc002ucy.2_Missense_Mutation_p.Q446K|SCN3A_uc002ucz.2_Missense_Mutation_p.Q446K|SCN3A_uc002uda.1_Missense_Mutation_p.Q315K|SCN3A_uc002udb.1_Missense_Mutation_p.Q315K NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 446 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) AGCATCTGCTGAAATTCGGCC 0.398000 STK39 27347 broad.mit.edu 37 2 169018346 169018346 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr2:169018346C>A uc002uea.2 - 5 739 c.579G>T c.(577-579)TTG>TTT p.L193F NM_013233 NP_037365 Q9UEW8 STK39_HUMAN serine threonine kinase 39 (STE20/SPS1 homolog, 193 Protein kinase. response to stress cytoplasm|nucleus ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity central_nervous_system(1)|skin(1) 2 TACCAGCTTTCAAATCCCTAT 0.308000 ECEL1 9427 broad.mit.edu 37 2 233350955 233350955 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr2:233350955G>A uc002vsv.2 - 2 614 c.409C>T c.(409-411)CGC>TGC p.R137C ECEL1_uc010fya.1_Missense_Mutation_p.R137C|ECEL1_uc010fyb.1_5'UTR NM_004826 NP_004817 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 137 Lumenal (Potential). neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity central_nervous_system(2) 2 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) ATGGCGTGGCGCCGCAGCCAA 0.642000 PDCD1 5133 broad.mit.edu 37 2 242794972 242794972 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr2:242794972C>T uc002wcq.3 - 2 305 c.237G>A c.(235-237)CTG>CTA p.L79L PDCD1_uc010fzs.2_Silent_p.L10L|PDCD1_uc010fzt.2_Intron NM_005018 NP_005009 Q15116 PDCD1_HUMAN programmed cell death 1 precursor 79 Ig-like V-type.|Extracellular (Potential). apoptosis|humoral immune response|multicellular organismal development|T cell costimulation integral to membrane protein tyrosine phosphatase activity|signal transducer activity ovary(1) 1 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219) GGAAGGCGGCCAGCTTGTCCG 0.632000 ENTPD6 955 broad.mit.edu 37 20 25187932 25187932 + Missense_Mutation SNP G G A rs140692182 byFrequency TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr20:25187932G>A uc002wuj.2 + 3 455 c.275G>A c.(274-276)GGG>GAG p.G92E ENTPD6_uc010zsy.1_Missense_Mutation_p.G92E|ENTPD6_uc010gdj.1_Missense_Mutation_p.G64E|ENTPD6_uc010zsz.1_Intron|ENTPD6_uc002wum.2_Missense_Mutation_p.G75E|ENTPD6_uc010zta.1_Missense_Mutation_p.G92E|ENTPD6_uc002wun.2_Missense_Mutation_p.G92E|ENTPD6_uc002wuk.2_Missense_Mutation_p.G91E|ENTPD6_uc002wul.2_Missense_Mutation_p.G91E|ENTPD6_uc010ztb.1_Missense_Mutation_p.G64E|ENTPD6_uc010ztc.1_Missense_Mutation_p.G64E|ENTPD6_uc002wuo.2_Intron|ENTPD6_uc010ztd.1_5'Flank NM_001247 NP_001238 O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 92 Lumenal (Potential). Golgi membrane|integral to membrane nucleoside-diphosphatase activity 0 AGCCCCCTGGGGACAGCTGCA 0.662000 C20orf160 140706 broad.mit.edu 37 20 30605902 30605902 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr20:30605902C>A uc002wxf.2 + 4 416 c.403C>A c.(403-405)CAC>AAC p.H135N NM_080625 NP_542192 Q9NUG4 CT160_HUMAN hypothetical protein LOC140706 135 central_nervous_system(3)|ovary(1) 4 AATCCCTACGCACGAGATCGC 0.552000 CEP250 11190 broad.mit.edu 37 20 34063452 34063452 + Missense_Mutation SNP T T G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr20:34063452T>G uc002xcm.2 + 16 2368 c.1697T>G c.(1696-1698)GTG>GGG p.V566G CEP250_uc010zve.1_5'UTR|CEP250_uc010zvd.1_Intron NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 566 Gln/Glu-rich.|Potential. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CAAACGGAAGTGACCGCAGCG 0.567000 SEMG2 6407 broad.mit.edu 37 20 43851491 43851491 + Missense_Mutation SNP A A G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr20:43851491A>G uc010ggz.2 + 2 1275 c.1218A>G c.(1216-1218)ATA>ATG p.I406M SEMG2_uc002xnk.2_Missense_Mutation_p.I406M|SEMG2_uc002xnl.2_Intron NM_003008 NP_002999 Q02383 SEMG2_HUMAN semenogelin II precursor 406 Repeat-rich region.|4 X 60 AA tandem repeats, type I. sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(1) 1 Myeloproliferative disorder(115;0.0122) AAAATAAAATATCATACCAAT 0.383000 SEMG2 6407 broad.mit.edu 37 20 43851594 43851594 + Missense_Mutation SNP A A C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr20:43851594A>C uc010ggz.2 + 2 1378 c.1321A>C c.(1321-1323)AAA>CAA p.K441Q SEMG2_uc002xnk.2_Missense_Mutation_p.K441Q|SEMG2_uc002xnl.2_Intron NM_003008 NP_002999 Q02383 SEMG2_HUMAN semenogelin II precursor 441 Repeat-rich region.|4 X 60 AA tandem repeats, type I. sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(1) 1 Myeloproliferative disorder(115;0.0122) AACTGAAGAGAAAATACATGG 0.378000 SEMG2 6407 broad.mit.edu 37 20 43851686 43851686 + Silent SNP A A G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr20:43851686A>G uc010ggz.2 + 2 1470 c.1413A>G c.(1411-1413)TCA>TCG p.S471S SEMG2_uc002xnk.2_Silent_p.S471S|SEMG2_uc002xnl.2_Intron NM_003008 NP_002999 Q02383 SEMG2_HUMAN semenogelin II precursor 471 Repeat-rich region.|4 X 60 AA tandem repeats, type I. sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(1) 1 Myeloproliferative disorder(115;0.0122) ACCAATCTTCAAGTACAGAAG 0.383000 CHRNA4 1137 broad.mit.edu 37 20 61990948 61990948 + Missense_Mutation SNP G G T rs112051150 TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr20:61990948G>T uc002yes.2 - 2 358 c.180C>A c.(178-180)GAC>GAA p.D60E CHRNA4_uc002yet.1_Intron|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_5'UTR|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR NM_000744 NP_000735 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 subunit 60 Extracellular (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|skin(1) 2 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) CGAGGACCACGTCCGAGATGT 0.632000 KRTAP24-1 643803 broad.mit.edu 37 21 31654953 31654953 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr21:31654953C>A uc002ynv.2 - 1 324 c.298G>T c.(298-300)GCA>TCA p.A100S NM_001085455 NP_001078924 Q3LI83 KR241_HUMAN keratin associated protein 24-1 100 keratin filament structural molecule activity 0 ACTTGGCCTGCTGATGGGGAG 0.403000 KRTAP27-1 643812 broad.mit.edu 37 21 31709591 31709591 + Missense_Mutation SNP T T G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr21:31709591T>G uc002ynx.1 - 1 422 c.396A>C c.(394-396)CAA>CAC p.Q132H NM_001077711 NP_001071179 Q3LI81 KR271_HUMAN keratin associated protein 27-1 132 intermediate filament ovary(2) 2 GGCTTGCAGGTTGGCAGCTCT 0.493000 TIAM1 7074 broad.mit.edu 37 21 32624274 32624274 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr21:32624274C>T uc002yow.1 - 6 1667 c.1195G>A c.(1195-1197)GAG>AAG p.E399K TIAM1_uc011adk.1_Missense_Mutation_p.E399K|TIAM1_uc011adl.1_Missense_Mutation_p.E399K|TIAM1_uc002yox.1_Missense_Mutation_p.E7K NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 399 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 TCCAGGCTCTCGCTGTTGGTG 0.692000 HLCS 3141 broad.mit.edu 37 21 38128941 38128941 + Silent SNP G G T rs150263699 byFrequency TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr21:38128941G>T uc010gnb.2 - 10 3112 c.1911C>A c.(1909-1911)ATC>ATA p.I637I HLCS_uc002yvs.2_Silent_p.I637I NM_000411 NP_000402 P50747 BPL1_HUMAN holocarboxylase synthetase 637 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding ovary(2)|breast(1)|kidney(1)|liver(1) 5 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) CGACTCTGGCGATGAGATAAT 0.473000 BRWD1 54014 broad.mit.edu 37 21 40590130 40590130 + Missense_Mutation SNP A A T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr21:40590130A>T uc002yxk.1 - 31 3746 c.3607T>A c.(3607-3609)TAT>AAT p.Y1203N BRWD1_uc010goc.1_Intron|BRWD1_uc002yxl.2_Missense_Mutation_p.Y1203N|BRWD1_uc010god.1_Missense_Mutation_p.Y169N NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1203 Bromo 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) TCGGTTGGATAAGCTACTACA 0.368000 U2AF1 7307 broad.mit.edu 37 21 44514835 44514835 + Nonsense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr21:44514835G>A uc002zda.1 - 6 496 c.412C>T c.(412-414)CAG>TAG p.Q138* U2AF1_uc002zcy.1_Nonsense_Mutation_p.Q65*|U2AF1_uc002zcz.1_Nonsense_Mutation_p.Q65*|U2AF1_uc002zdb.1_Nonsense_Mutation_p.Q138*|U2AF1_uc010gpi.1_Nonsense_Mutation_p.Q138* NM_001025203 NP_001020374 Q01081 U2AF1_HUMAN U2 small nuclear RNA auxillary factor 1 isoform 138 RRM. 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 TGGATCGGCTGTCCATTAAAC 0.532000 SLC7A4 6545 broad.mit.edu 37 22 21385491 21385491 + Missense_Mutation SNP A A C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr22:21385491A>C uc002zud.2 - 2 679 c.611T>G c.(610-612)CTT>CGT p.L204R SLC7A4_uc002zue.2_Missense_Mutation_p.L204R NM_004173 NP_004164 O43246 CTR4_HUMAN solute carrier family 7 (cationic amino acid 204 Helical; (Potential). cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity ovary(1)|lung(1) 2 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) GAGAATGACAAGCAGGCTGAT 0.602000 DDT 1652 broad.mit.edu 37 22 24313812 24313812 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr22:24313812C>T uc002zyz.3 - 3 362 c.285G>A c.(283-285)CGG>CGA p.R95R DDT_uc011ajf.1_Intron|DDTL_uc002zyy.3_3'UTR|DDT_uc002zza.3_Silent_p.R95R NM_001084392 NP_001077861 P30046 DOPD_HUMAN D-dopachrome tautomerase 95 melanin biosynthetic process cytoplasm D-dopachrome decarboxylase activity|dopachrome isomerase activity|protein binding 0 GGATAAGTATCCTTCAGGAGA 0.507000 GRAP2 9402 broad.mit.edu 37 22 40365500 40365500 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr22:40365500G>A uc003ayh.1 + 7 1039 c.776G>A c.(775-777)CGG>CAG p.R259Q GRAP2_uc003ayi.2_RNA|GRAP2_uc011aom.1_Missense_Mutation_p.R233Q|GRAP2_uc011aon.1_Missense_Mutation_p.R193Q|GRAP2_uc010gya.1_Missense_Mutation_p.R259Q|GRAP2_uc011aoo.1_Missense_Mutation_p.R187Q|GRAP2_uc011aop.1_Missense_Mutation_p.R219Q|GRAP2_uc011aoq.1_Missense_Mutation_p.R146Q|GRAP2_uc003ayj.1_Missense_Mutation_p.R259Q NM_004810 NP_004801 O75791 GRAP2_HUMAN GRB2-related adaptor protein 2 259 cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway cytosol SH3/SH2 adaptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 CTCATGCATCGGAGACACACA 0.572000 CRBN 51185 broad.mit.edu 37 3 3192625 3192625 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr3:3192625G>A uc003bpq.2 - 11 1272 c.1253C>T c.(1252-1254)ACG>ATG p.T418M CRBN_uc003bpr.2_Missense_Mutation_p.T417M|CRBN_uc010hbw.2_Missense_Mutation_p.T374M NM_016302 NP_057386 Q96SW2 CRBN_HUMAN cereblon 418 Thalidomide-binding. proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus ATP-dependent peptidase activity|protein binding ovary(1) 1 Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079) AGCAGATCGCGTTAAGCCCCA 0.428000 JAGN1 84522 broad.mit.edu 37 3 9934908 9934908 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr3:9934908C>T uc003btt.3 + 2 535 c.399C>T c.(397-399)GGC>GGT p.G133G CIDEC_uc003bto.2_Intron NM_032492 NP_115881 Q8N5M9 JAGN1_HUMAN jagunal homolog 1 133 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane ovary(1) 1 Medulloblastoma(99;0.227) ACCGCCATGGCAAGGCCTACC 0.522000 SUSD5 26032 broad.mit.edu 37 3 33194911 33194911 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr3:33194911C>T uc003cfo.1 - 5 1631 c.1213G>A c.(1213-1215)GTC>ATC p.V405I NM_015551 NP_056366 O60279 SUSD5_HUMAN sushi domain containing 5 precursor 405 Extracellular (Potential). cell adhesion integral to membrane hyaluronic acid binding ovary(1)|central_nervous_system(1) 2 GTAACTAGGACGTTTTCATCC 0.532000 LRRFIP2 9209 broad.mit.edu 37 3 37114295 37114295 + Missense_Mutation SNP C C G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr3:37114295C>G uc003cgp.2 - 22 1873 c.1450G>C c.(1450-1452)GAT>CAT p.D484H LRRFIP2_uc011ayf.1_Missense_Mutation_p.D300H|LRRFIP2_uc003cgr.2_Intron|LRRFIP2_uc003cgs.3_Intron|LRRFIP2_uc003cgt.3_Intron NM_006309 NP_006300 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting 484 Potential. Wnt receptor signaling pathway LRR domain binding ovary(1) 1 ATTTTTTTATCTTTCCAAAGA 0.418000 CELSR3 1951 broad.mit.edu 37 3 48683606 48683606 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr3:48683606C>T uc003cul.2 - 22 7661 c.7380G>A c.(7378-7380)GAG>GAA p.E2460E CELSR3_uc003cuf.1_Silent_p.E2530E|CELSR3_uc010hkf.2_5'Flank|CELSR3_uc010hkg.2_Silent_p.E443E NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 2460 Extracellular (Potential). homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TGATGGGGGACTCCAGGATTC 0.602000 NISCH 11188 broad.mit.edu 37 3 52521725 52521725 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr3:52521725C>T uc011beg.1 + 17 2289 c.2217C>T c.(2215-2217)TTC>TTT p.F739F NISCH_uc003ded.3_Silent_p.F739F|NISCH_uc003dee.3_Silent_p.F228F|NISCH_uc003deg.1_RNA NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 739 Interaction with LIMK (By similarity).|Interaction with ITGA5 (By similarity).|Interaction with PAK1 (By similarity). apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity ovary(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) TCGCAGTCTTCGAGATCCCGC 0.612000 ARL13B 200894 broad.mit.edu 37 3 93768322 93768322 + Missense_Mutation SNP A A T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr3:93768322A>T uc003drc.2 + 8 1383 c.1097A>T c.(1096-1098)GAC>GTC p.D366V ARL13B_uc010hop.2_Missense_Mutation_p.D217V|ARL13B_uc003drd.2_Missense_Mutation_p.D259V|ARL13B_uc003dre.2_Missense_Mutation_p.D351V|ARL13B_uc003drf.2_Missense_Mutation_p.D366V|ARL13B_uc003drg.2_Missense_Mutation_p.D263V NM_182896 NP_878899 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 2-like 1 isoform 1 366 GTP binding 0 AATATAGATGACTGTGCTCCT 0.378000 SMC4 10051 broad.mit.edu 37 3 160148502 160148502 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr3:160148502G>A uc003fdh.2 + 19 3024 c.2911G>A c.(2911-2913)GAG>AAG p.E971K IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.E946K|SMC4_uc003fdj.2_Missense_Mutation_p.E971K|SMC4_uc010hwd.2_Missense_Mutation_p.E971K|SMC4_uc003fdl.2_Missense_Mutation_p.E674K NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes 971 Potential. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity ovary(1)|breast(1) 2 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CAAAGCAGCAGAGGTCGTAAA 0.408000 SMC4 10051 broad.mit.edu 37 3 160150896 160150896 + Missense_Mutation SNP T T G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr3:160150896T>G uc003fdh.2 + 23 3726 c.3613T>G c.(3613-3615)TTT>GTT p.F1205V IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.F1180V|SMC4_uc003fdj.2_Missense_Mutation_p.F1205V|SMC4_uc010hwd.2_Missense_Mutation_p.F1147V|SMC4_uc003fdl.2_Missense_Mutation_p.F908V NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes 1205 Ala/Asp-rich (DA-box). cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity ovary(1)|breast(1) 2 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GGCTTTAGTATTTGCTCTTCA 0.368000 MCCC1 56922 broad.mit.edu 37 3 182733324 182733324 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr3:182733324C>T uc003fle.2 - 19 2217 c.2080G>A c.(2080-2082)GTA>ATA p.V694I MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.V577I|MCCC1_uc003flg.2_Missense_Mutation_p.V585I NM_020166 NP_064551 Q96RQ3 MCCA_HUMAN methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) 694 Biotinyl-binding. biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) ACTTTCTTTACTGTGCCATCC 0.433000 C3orf70 285382 broad.mit.edu 37 3 184801261 184801261 + Missense_Mutation SNP T T G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr3:184801261T>G uc003fpd.2 - 2 478 c.287A>C c.(286-288)CAG>CCG p.Q96P NM_001025266 NP_001020437 A6NLC5 CC070_HUMAN hypothetical protein LOC285382 96 0 GACTGAGATCTGAATGGTGTT 0.502000 BCL6 604 broad.mit.edu 37 3 187447510 187447510 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr3:187447510C>T uc003frp.3 - 5 1140 c.683G>A c.(682-684)CGG>CAG p.R228Q BCL6_uc011bsf.1_Missense_Mutation_p.R228Q|BCL6_uc010hza.2_Missense_Mutation_p.R126Q|BCL6_uc003frq.1_Missense_Mutation_p.R228Q NM_001130845 NP_001124317 P41182 BCL6_HUMAN B-cell lymphoma 6 protein isoform 1 228 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|lung(2)|central_nervous_system(1) 5 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) TGGGAGTGCCCGCTCCTTGGG 0.587000 T|Mis IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3 NHL|CLL PDGFRA 5156 broad.mit.edu 37 4 55133725 55133725 + Missense_Mutation SNP G G T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr4:55133725G>T uc003han.3 + 7 1269 c.938G>T c.(937-939)GGT>GTT p.G313V PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.G207V|PDGFRA_uc003ham.2_RNA NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 313 Extracellular (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) ACAGAGAAAGGTTTCATTGAA 0.448000 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) TMEM165 55858 broad.mit.edu 37 4 56277800 56277800 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr4:56277800C>T uc003hax.2 + 2 494 c.227C>T c.(226-228)GCT>GTT p.A76V TMEM165_uc011bzy.1_Missense_Mutation_p.A13V NM_018475 NP_060945 Q9HC07 TM165_HUMAN transmembrane protein 165 76 integral to membrane 0 Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103) ACACCAGCAGCTCCAGTTCAT 0.289000 HERC5 51191 broad.mit.edu 37 4 89388332 89388332 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr4:89388332C>T uc003hrt.2 + 7 1187 c.1034C>T c.(1033-1035)TCA>TTA p.S345L HERC5_uc011cdm.1_5'Flank NM_016323 NP_057407 Q9UII4 HERC5_HUMAN hect domain and RLD 5 345 RCC1 5. innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity ovary(4)|lung(3)|skin(2) 9 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) GTGAAAGTATCATCAAGTGAA 0.393000 MMRN1 22915 broad.mit.edu 37 4 90856716 90856716 + Missense_Mutation SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr4:90856716G>C uc003hst.2 + 6 1956 c.1885G>C c.(1885-1887)GAC>CAC p.D629H MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.D371H NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 629 Potential. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen ovary(4) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) CTTTCCAATGGACAATAAGAT 0.363000 PDHA2 5161 broad.mit.edu 37 4 96762399 96762399 + Silent SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr4:96762399C>A uc003htr.3 + 1 1161 c.1098C>A c.(1096-1098)ATC>ATA p.I366I NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 366 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) GCCATCACATCTACAGCAGTG 0.433000 PRDM9 56979 broad.mit.edu 37 5 23521209 23521209 + Missense_Mutation SNP T T A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr5:23521209T>A uc003jgo.2 + 6 611 c.429T>A c.(427-429)AGT>AGA p.S143R NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 143 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 TGAATGCAAGTGGCTCAGAGC 0.423000 HNSCC(3;0.000094) PRKAA1 5562 broad.mit.edu 37 5 40764627 40764627 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr5:40764627C>T uc003jmc.2 - 8 1430 c.1424G>A c.(1423-1425)CGT>CAT p.R475H PRKAA1_uc003jmb.2_Missense_Mutation_p.R490H NM_006251 NP_006242 Q13131 AAPK1_HUMAN protein kinase, AMP-activated, alpha 1 catalytic 475 activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia cytosol ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding breast(1) 1 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914) ATCAATACTACGGAAATCCAG 0.368000 PIK3R1 5295 broad.mit.edu 37 5 67589663 67589663 + Splice_Site SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr5:67589663G>A uc003jva.2 + 11 1985 c.1425_splice c.e11+1 p.Q475_splice PIK3R1_uc003jvb.2_Splice_Site_p.Q475_splice|PIK3R1_uc003jvc.2_Splice_Site_p.Q175_splice|PIK3R1_uc003jvd.2_Splice_Site_p.Q205_splice|PIK3R1_uc003jve.2_Splice_Site_p.Q154_splice|PIK3R1_uc011crb.1_Splice_Site_p.Q145_splice NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.D434_Q475del(1)|p.?(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) CACATCCCAGGTGAGTTTTCT 0.294000 Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) RAD17 5884 broad.mit.edu 37 5 68692242 68692242 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr5:68692242G>A uc003jwo.2 + 13 1536 c.1474G>A c.(1474-1476)GAA>AAA p.E492K RAD17_uc003jwg.2_Missense_Mutation_p.E481K|RAD17_uc003jwh.2_Missense_Mutation_p.E481K|RAD17_uc003jwi.2_Missense_Mutation_p.E481K|RAD17_uc003jwj.2_Missense_Mutation_p.E481K|RAD17_uc003jwk.2_Missense_Mutation_p.E481K|RAD17_uc003jwl.2_Missense_Mutation_p.E481K|RAD17_uc003jwm.2_Missense_Mutation_p.E316K|RAD17_uc003jwn.2_Missense_Mutation_p.E395K|RAD17_uc003jwp.2_Missense_Mutation_p.E52K NM_133339 NP_579917 O75943 RAD17_HUMAN RAD17 homolog isoform 2 492 Interaction with MCM7. cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding 0 Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) TTTACTCAGGGAATATAGCAC 0.383000 Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes ACOT12 134526 broad.mit.edu 37 5 80655815 80655815 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr5:80655815C>T uc003khl.3 - 5 458 c.403G>A c.(403-405)GTG>ATG p.V135M RNU5E_uc011cto.1_Intron|ACOT12_uc003khm.2_Missense_Mutation_p.V135M NM_130767 NP_570123 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 135 acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity ovary(1)|kidney(1) 2 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) TTATGTTCCACATGATCTTGT 0.323000 PKD2L2 27039 broad.mit.edu 37 5 137271538 137271538 + Missense_Mutation SNP A A T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr5:137271538A>T uc003lby.2 + 13 1780 c.1724A>T c.(1723-1725)AAG>ATG p.K575M PKD2L2_uc003lbw.1_Missense_Mutation_p.K575M|PKD2L2_uc003lbx.2_Missense_Mutation_p.K474M|PKD2L2_uc011cyi.1_Missense_Mutation_p.K183M NM_014386 NP_055201 Q9NZM6 PK2L2_HUMAN polycystic kidney disease 2-like 2 575 Cytoplasmic (Potential).|Potential. integral to membrane calcium ion binding|ion channel activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CTTGAGAAAAAGTATTATTCT 0.378000 PCDHA1 56147 broad.mit.edu 37 5 140167716 140167716 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr5:140167716C>A uc003lhb.2 + 1 1841 c.1841C>A c.(1840-1842)GCA>GAA p.A614E PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.A614E NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 614 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCAGCCGGCAGCAGGCGGC 0.677000 ARAP3 64411 broad.mit.edu 37 5 141053171 141053171 + Splice_Site SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr5:141053171C>A uc003llm.2 - 5 980 c.902_splice c.e5+1 p.G301_splice ARAP3_uc011dbe.1_5'Flank|ARAP3_uc003lln.2_Splice_Site_p.G223_splice|ARAP3_uc003llo.1_Splice_Site_p.G301_splice NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding breast(5)|ovary(1)|large_intestine(1) 7 CCAGCACCCACCCCTGAGGGG 0.622000 FAF2 23197 broad.mit.edu 37 5 175919208 175919208 + Missense_Mutation SNP T T G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr5:175919208T>G uc003mej.3 + 5 411 c.358T>G c.(358-360)TTT>GTT p.F120V NM_014613 NP_055428 Q96CS3 FAF2_HUMAN UBX domain containing 8 120 response to unfolded protein endoplasmic reticulum|lipid particle protein binding ovary(1) 1 TGCTCTTCGTTTTATACGGCC 0.473000 CAGE1 285782 broad.mit.edu 37 6 7373629 7373629 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr6:7373629G>A uc003mxi.2 - 4 1736 c.1015C>T c.(1015-1017)CGG>TGG p.R339W CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.R230W|CAGE1_uc003mxk.1_Missense_Mutation_p.R230W NM_205864 NP_995586 Q8TC20 CAGE1_HUMAN cancer antigen 1 475 Potential. 0 Ovarian(93;0.0418) TCTTTTTCCCGTTTCAACAAG 0.403000 BMP6 654 broad.mit.edu 37 6 7880471 7880471 + Silent SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr6:7880471G>A uc003mxu.3 + 7 1615 c.1437G>A c.(1435-1437)GCG>GCA p.A479A NM_001718 NP_001709 P22004 BMP6_HUMAN bone morphogenetic protein 6 preproprotein 479 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity large_intestine(2)|ovary(1) 3 Ovarian(93;0.0721) CGTGCTGTGCGCCAACTAAGC 0.448000 HIST1H2AG 8969 broad.mit.edu 37 6 27100904 27100904 + Silent SNP C C G rs147278636 TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr6:27100904C>G uc003niw.2 + 1 88 c.54C>G c.(52-54)CGC>CGG p.R18R HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank NM_021064 NP_066408 P0C0S8 H2A1_HUMAN histone cluster 1, H2ag 18 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding 0 CCAAGACTCGCTCTTCTAGGG 0.647000 OR5V1 81696 broad.mit.edu 37 6 29323142 29323142 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr6:29323142C>A uc011dlo.1 - 1 913 c.831G>T c.(829-831)TTG>TTT p.L277F NM_030876 NP_110503 Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, 277 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|kidney(1) 4 CAACACTGTACAACACTGAAA 0.418000 DNAH8 1769 broad.mit.edu 37 6 38835970 38835970 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr6:38835970C>A uc003ooe.1 + 46 6775 c.6175C>A c.(6175-6177)CTG>ATG p.L2059M NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 CCTTTCCAAACTGGTATCTTC 0.388000 BAI3 577 broad.mit.edu 37 6 69348940 69348940 + Missense_Mutation SNP A A G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr6:69348940A>G uc003pev.3 + 3 821 c.373A>G c.(373-375)AAA>GAA p.K125E BAI3_uc010kak.2_Missense_Mutation_p.K125E NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 125 CUB.|Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) ACAGTATGATAAAAATTTTAT 0.289000 RIMS1 22999 broad.mit.edu 37 6 72678732 72678732 + Missense_Mutation SNP A A G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr6:72678732A>G uc003pga.2 + 2 288 c.211A>G c.(211-213)AGA>GGA p.R71G NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 71 RabBD. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) CAAAACACCAAGAAATGCTGA 0.453000 DDX43 55510 broad.mit.edu 37 6 74123758 74123758 + Missense_Mutation SNP G G C rs139170485 TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr6:74123758G>C uc003pgw.2 + 13 1906 c.1562G>C c.(1561-1563)AGA>ACA p.R521T NM_018665 NP_061135 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 521 Helicase C-terminal. intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 CATGGAGATAGAGAACAGAGA 0.363000 SLC17A5 26503 broad.mit.edu 37 6 74351547 74351547 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr6:74351547C>T uc003phn.3 - 3 520 c.392G>A c.(391-393)AGC>AAC p.S131N SLC17A5_uc010kay.2_RNA|SLC17A5_uc011dyo.1_Silent_p.Q29Q NM_012434 NP_036566 Q9NRA2 S17A5_HUMAN sialin 131 anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity skin(5)|central_nervous_system(1) 6 CCCTATTTTGCTGGCAACATA 0.473000 PGM3 5238 broad.mit.edu 37 6 83900610 83900610 + Missense_Mutation SNP C C G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr6:83900610C>G uc003pjv.2 - 2 162 c.122G>C c.(121-123)CGC>CCC p.R41P PGM3_uc003pjw.2_Intron|PGM3_uc011dyz.1_Missense_Mutation_p.R69P|RWDD2A_uc003pjx.3_5'Flank|RWDD2A_uc011dza.1_5'Flank NM_015599 NP_056414 O95394 AGM1_HUMAN phosphoglucomutase 3 41 dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity 0 all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068) BRCA - Breast invasive adenocarcinoma(397;0.0478) TAATCCCATGCGAAACATGAC 0.458000 ASCC3 10973 broad.mit.edu 37 6 101094585 101094585 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr6:101094585G>A uc003pqk.2 - 22 3868 c.3539C>T c.(3538-3540)CCT>CTT p.P1180L NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 1180 SEC63 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) CATAACAGAAGGAATCTGATG 0.403000 QRSL1 55278 broad.mit.edu 37 6 107100220 107100220 + Missense_Mutation SNP A A G rs144191952 TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr6:107100220A>G uc003prm.2 + 6 810 c.694A>G c.(694-696)ATC>GTC p.I232V QRSL1_uc003prl.2_Missense_Mutation_p.I232V NM_018292 NP_060762 Q9H0R6 QRSL1_HUMAN glutaminyl-tRNA synthase 232 translation ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor 0 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248) Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152) BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176) TGTGCCAGGAATCTTAACCAG 0.413000 SEC63 11231 broad.mit.edu 37 6 108234618 108234618 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr6:108234618C>T uc003psc.3 - 5 735 c.466G>A c.(466-468)GAG>AAG p.E156K SEC63_uc003psb.3_Missense_Mutation_p.E16K NM_007214 NP_009145 Q9UGP8 SEC63_HUMAN SEC63-like protein 156 J.|Lumenal (Potential). protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding ovary(1)|skin(1) 2 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) TTCCGGGACTCTTCATCCGTT 0.343000 TUBE1 51175 broad.mit.edu 37 6 112393234 112393234 + Nonsense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr6:112393234C>T uc003pvq.2 - 11 1254 c.1140G>A c.(1138-1140)TGG>TGA p.W380* TUBE1_uc003pvr.2_Nonsense_Mutation_p.W305* NM_016262 NP_057346 Q9UJT0 TBE_HUMAN tubulin, epsilon 1 380 centrosome cycle|microtubule-based movement|protein polymerization microtubule|pericentriolar material GTP binding|GTPase activity|structural constituent of cytoskeleton ovary(1) 1 all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1) all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) GGCTGGTCTTCCAGCCTTCTT 0.398000 SERINC1 57515 broad.mit.edu 37 6 122766247 122766247 + Missense_Mutation SNP A A T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr6:122766247A>T uc003pyy.1 - 10 1374 c.1304T>A c.(1303-1305)GTG>GAG p.V435E SERINC1_uc003pyx.1_RNA NM_020755 NP_065806 Q9NRX5 SERC1_HUMAN serine incorporator 1 435 Helical; (Potential). phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane L-serine transmembrane transporter activity|protein binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.126) AACATACAGCACGATGCCAAT 0.413000 HDAC9 9734 broad.mit.edu 37 7 18631206 18631206 + Missense_Mutation SNP A A C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr7:18631206A>C uc003suh.2 + 4 515 c.474A>C c.(472-474)AAA>AAC p.K158N HDAC9_uc003sue.2_Missense_Mutation_p.K158N|HDAC9_uc011jyd.1_Missense_Mutation_p.K158N|HDAC9_uc003sui.2_Missense_Mutation_p.K161N|HDAC9_uc003suj.2_Missense_Mutation_p.K161N|HDAC9_uc011jya.1_Missense_Mutation_p.K199N|HDAC9_uc003sua.1_Missense_Mutation_p.K180N|HDAC9_uc011jyb.1_Missense_Mutation_p.K158N|HDAC9_uc003sud.1_Missense_Mutation_p.K158N|HDAC9_uc011jyc.1_Missense_Mutation_p.K161N|HDAC9_uc003suf.1_Missense_Mutation_p.K189N|HDAC9_uc010kud.1_Missense_Mutation_p.K161N|HDAC9_uc011jye.1_Missense_Mutation_p.K130N|HDAC9_uc011jyf.1_Missense_Mutation_p.K127N|HDAC9_uc010kue.1_5'UTR NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 158 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) CAGCAACGAAAGACACTCCAA 0.383000 WBSCR17 64409 broad.mit.edu 37 7 71036364 71036364 + Missense_Mutation SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr7:71036364G>C uc003tvy.2 + 6 1057 c.1057G>C c.(1057-1059)GAA>CAA p.E353Q WBSCR17_uc003tvz.2_Missense_Mutation_p.E52Q NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 353 Catalytic subdomain B.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) ATACGGAGGAGAAAATATTGA 0.507000 MAGI2 9863 broad.mit.edu 37 7 77797390 77797390 + Silent SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr7:77797390G>A uc003ugx.2 - 15 2693 c.2439C>T c.(2437-2439)GCC>GCT p.A813A MAGI2_uc003ugy.2_Silent_p.A799A|MAGI2_uc010ldx.1_Silent_p.A406A NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 813 PDZ 4. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CATCTCTGTCGGCTGAGCCCA 0.453000 SEMA3E 9723 broad.mit.edu 37 7 82997332 82997332 + Missense_Mutation SNP A A G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr7:82997332A>G uc003uhy.1 - 17 2364 c.1898T>C c.(1897-1899)GTT>GCT p.V633A NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 633 Ig-like C2-type. axon guidance extracellular space|membrane receptor activity ovary(3) 3 Medulloblastoma(109;0.109) GTCCATCTTAACCACTCTGTC 0.418000 CYP51A1 1595 broad.mit.edu 37 7 91743061 91743061 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr7:91743061C>A uc003ulm.3 - 10 1610 c.1448G>T c.(1447-1449)GGA>GTA p.G483V CYP51A1_uc011khn.1_Missense_Mutation_p.G378V|CYP51A1_uc003uln.3_Missense_Mutation_p.G420V NM_000786 NP_000777 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, 477 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity 0 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) GGGAAAGTATCCATCAATGAG 0.368000 FLNC 2318 broad.mit.edu 37 7 128478750 128478750 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr7:128478750C>T uc003vnz.3 + 8 1513 c.1304C>T c.(1303-1305)ACG>ATG p.T435M FLNC_uc003voa.3_Missense_Mutation_p.T435M NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 435 Filamin 2. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 GGTGACAGCACGTTCCGCTGC 0.657000 TRIM24 8805 broad.mit.edu 37 7 138265374 138265374 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr7:138265374C>T uc003vuc.2 + 16 2868 c.2653C>T c.(2653-2655)CCC>TCC p.P885S TRIM24_uc003vub.2_Missense_Mutation_p.P851S NM_015905 NP_056989 O15164 TIF1A_HUMAN transcriptional intermediary factor 1 alpha 885 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1) 8 TTGTGATGCTCCCAGTCACAA 0.368000 MKRN1 23608 broad.mit.edu 37 7 140171773 140171773 + Missense_Mutation SNP C C G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr7:140171773C>G uc003vvt.2 - 2 449 c.224G>C c.(223-225)TGT>TCT p.C75S MKRN1_uc003vvs.2_Missense_Mutation_p.C11S|MKRN1_uc011krd.1_5'UTR|MKRN1_uc003vvv.3_Missense_Mutation_p.C75S|MKRN1_uc003vvu.3_Missense_Mutation_p.C11S NM_013446 NP_038474 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 isoform 1 75 C3H1-type 1. ligase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1) 1 Melanoma(164;0.00956) CGAGTAGCGACAGTTGTCTCC 0.403000 CNTNAP2 26047 broad.mit.edu 37 7 146471365 146471365 + Missense_Mutation SNP A A G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr7:146471365A>G uc003weu.1 + 2 616 c.100A>G c.(100-102)AAA>GAA p.K34E NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 34 Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GTTTTCAGAAAAATGTGATGA 0.428000 HNSCC(39;0.1) SGK223 157285 broad.mit.edu 37 8 8185863 8185863 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr8:8185863G>A uc003wsh.3 - 4 2429 c.2429C>T c.(2428-2430)CCC>CTC p.P810L NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 810 ATP binding|non-membrane spanning protein tyrosine kinase activity 0 GAGTGGAGGGGGCTGCTGGGG 0.637000 ESCO2 157570 broad.mit.edu 37 8 27634042 27634042 + Nonsense_Mutation SNP C C T rs141222001 TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr8:27634042C>T uc003xgg.2 + 3 300 c.217C>T c.(217-219)CAA>TAA p.Q73* ESCO2_uc010luy.1_RNA|ESCO2_uc003xgh.2_Nonsense_Mutation_p.Q73* NM_001017420 NP_001017420 Q56NI9 ESCO2_HUMAN establishment of cohesion 1 homolog 2 73 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding central_nervous_system(1) 1 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) ATCAGCAAATCAAGGCTCACC 0.378000 SC_Phocomelia_syndrome ADAM9 8754 broad.mit.edu 37 8 38874807 38874807 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr8:38874807C>T uc003xmr.2 + 6 558 c.480C>T c.(478-480)CAC>CAT p.H160H ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA NM_003816 NP_003807 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 isoform 1 160 Extracellular (Potential). activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) ATTTTGAGCACATCATTTATC 0.398000 MYST3 7994 broad.mit.edu 37 8 41798853 41798853 + Missense_Mutation SNP T T C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr8:41798853T>C uc010lxb.2 - 16 3090 c.2546A>G c.(2545-2547)CAA>CGA p.Q849R MYST3_uc010lxc.2_Missense_Mutation_p.Q849R|MYST3_uc003xon.3_Missense_Mutation_p.Q849R NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 849 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) AGGAAGGACTTGTTTGCTCAA 0.443000 KCNB2 9312 broad.mit.edu 37 8 73849089 73849089 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr8:73849089C>T uc003xzb.2 + 3 2087 c.1499C>T c.(1498-1500)TCG>TTG p.S500L NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 500 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) AAGGCTCTGTCGGAAACAAGC 0.557000 STAU2 27067 broad.mit.edu 37 8 74526145 74526145 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr8:74526145C>A uc003xzm.2 - 9 961 c.725G>T c.(724-726)CGA>CTA p.R242L STAU2_uc011lfg.1_Missense_Mutation_p.R70L|STAU2_uc003xzn.2_Missense_Mutation_p.R210L|STAU2_uc011lfh.1_Missense_Mutation_p.R138L|STAU2_uc003xzo.2_Missense_Mutation_p.R242L|STAU2_uc003xzp.2_Missense_Mutation_p.R210L|STAU2_uc011lfi.1_Missense_Mutation_p.R204L|STAU2_uc003xzq.2_Missense_Mutation_p.R22L|STAU2_uc010lzk.2_Missense_Mutation_p.R210L|STAU2_uc010lzl.1_Missense_Mutation_p.R70L NM_014393 NP_055208 Q9NUL3 STAU2_HUMAN staufen homolog 2 isoform e 242 DRBM 3. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding 0 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) TACTGACACTCGAGTAACAAA 0.378000 ZFHX4 79776 broad.mit.edu 37 8 77690554 77690554 + Silent SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr8:77690554G>C uc003yav.2 + 4 3513 c.3126G>C c.(3124-3126)TCG>TCC p.S1042S ZFHX4_uc003yau.1_Silent_p.S1068S|ZFHX4_uc003yaw.1_Silent_p.S1042S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1042 C2H2-type 7. 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) ATGTCCGTTCGGTGAAGCATC 0.512000 HNSCC(33;0.089) CSMD3 114788 broad.mit.edu 37 8 113318256 113318256 + Missense_Mutation SNP T T A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr8:113318256T>A uc003ynu.2 - 51 8210 c.8051A>T c.(8050-8052)AAC>ATC p.N2684I CSMD3_uc003yns.2_Missense_Mutation_p.N1886I|CSMD3_uc003ynt.2_Missense_Mutation_p.N2644I|CSMD3_uc011lhx.1_Missense_Mutation_p.N2580I NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2684 Extracellular (Potential).|Sushi 15. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AGGGGTCTTGTTATGATTGCT 0.363000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) CSMD3 114788 broad.mit.edu 37 8 113348959 113348959 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr8:113348959C>A uc003ynu.2 - 44 7100 c.6941G>T c.(6940-6942)AGA>ATA p.R2314I CSMD3_uc003yns.2_Missense_Mutation_p.R1516I|CSMD3_uc003ynt.2_Missense_Mutation_p.R2274I|CSMD3_uc011lhx.1_Missense_Mutation_p.R2210I|CSMD3_uc003ynw.1_Missense_Mutation_p.R25I NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2314 Extracellular (Potential).|CUB 13. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AGGGGGTACTCTTACAAGCCA 0.373000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) JAK2 3717 broad.mit.edu 37 9 5069141 5069141 + Silent SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr9:5069141G>A uc010mhm.2 + 10 1559 c.1446G>A c.(1444-1446)CAG>CAA p.Q482Q JAK2_uc003ziw.2_Silent_p.Q482Q NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 482 SH2; atypical. 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 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) ATTGTTACCAGATGGAAACTG 0.323000 1 T|Mis|O ETV6|PCM1|BCR ALL|AML|MPD| CML Polycythemia_Vera_Familial IFNA10 3446 broad.mit.edu 37 9 21206570 21206570 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr9:21206570G>A uc003zoq.1 - 1 573 c.527C>T c.(526-528)TCG>TTG p.S176L IFNA14_uc003zoo.1_Intron NM_002171 NP_002162 P01566 IFN10_HUMAN interferon, alpha 10 precursor 176 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17) TGTTGAAAACGAGAGGGATCT 0.388000 IFNA6 3443 broad.mit.edu 37 9 21350353 21350353 + Silent SNP T T C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr9:21350353T>C uc011lni.1 - 1 534 c.534A>G c.(532-534)TCA>TCG p.S178S NM_021002 NP_066282 P05013 IFNA6_HUMAN interferon, alpha 6 precursor 178 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) GCAAGTTTCTTGATGAAGAGA 0.438000 HNRNPK 3190 broad.mit.edu 37 9 86585140 86585140 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr9:86585140C>T uc004ang.3 - 16 1522 c.1298G>A c.(1297-1299)CGG>CAG p.R433Q HNRNPK_uc011lsw.1_Missense_Mutation_p.R193Q|HNRNPK_uc004and.3_Missense_Mutation_p.R193Q|HNRNPK_uc004ank.3_Missense_Mutation_p.R432Q|HNRNPK_uc004anf.3_Missense_Mutation_p.R433Q|HNRNPK_uc004anh.3_Missense_Mutation_p.R409Q|HNRNPK_uc011lsx.1_Missense_Mutation_p.R409Q|HNRNPK_uc004ani.3_Missense_Mutation_p.R432Q|HNRNPK_uc004anj.3_Missense_Mutation_p.R432Q|HNRNPK_uc004ann.3_Missense_Mutation_p.R408Q|HNRNPK_uc004anl.3_Missense_Mutation_p.R433Q|HNRNPK_uc004anm.3_Missense_Mutation_p.R433Q|uc004ano.1_5'Flank|MIR7-1_hsa-mir-7-1|MI0000263_5'Flank NM_031262 NP_112552 P61978 HNRPK_HUMAN heterogeneous nuclear ribonucleoprotein K 433 KH 3. interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding skin(1) 1 GGTAATGATCCGATCTTCGGA 0.413000 ZNF79 7633 broad.mit.edu 37 9 130206660 130206660 + Silent SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr9:130206660G>A uc004bqw.3 + 5 1095 c.681G>A c.(679-681)GGG>GGA p.G227G ZNF79_uc011maf.1_Silent_p.G203G|ZNF79_uc011mag.1_Silent_p.G203G NM_007135 NP_009066 Q15937 ZNF79_HUMAN zinc finger protein 79 227 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 GTGAATGTGGGAAGGCCTTCA 0.493000 BAT2L1 84726 broad.mit.edu 37 9 134321941 134321941 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr9:134321941G>A uc004can.3 + 6 822 c.767G>A c.(766-768)CGC>CAC p.R256H BAT2L1_uc010mzj.1_5'Flank|BAT2L1_uc004cam.1_Missense_Mutation_p.R256H NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 256 protein binding 0 CCCTCTCTCCGCCCGGCTCAG 0.562000 IL1RAPL1 11141 broad.mit.edu 37 X 28807512 28807512 + Missense_Mutation SNP A A G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chrX:28807512A>G uc004dby.2 + 2 560 c.52A>G c.(52-54)AGT>GGT p.S18G NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 18 innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 TTTTACTCAGAGTTTGAAGGT 0.378000 WNK3 65267 broad.mit.edu 37 X 54263436 54263436 + Missense_Mutation SNP G G T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chrX:54263436G>T uc004dtd.1 - 20 4861 c.4422C>A c.(4420-4422)AGC>AGA p.S1474R WNK3_uc004dtc.1_Missense_Mutation_p.S1521R NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 1474 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 CATCATCACTGCTCATTGGGG 0.423000 ZXDA 7789 broad.mit.edu 37 X 57934628 57934628 + Missense_Mutation SNP T T G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chrX:57934628T>G uc004dve.2 - 1 2440 c.2227A>C c.(2227-2229)AGT>CGT p.S743R NM_007156 NP_009087 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 743 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 TCTGAGACACTGTTTTCACAA 0.498000 CYLC1 1538 broad.mit.edu 37 X 83129025 83129025 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chrX:83129025G>A uc004eei.1 + 4 1330 c.1309G>A c.(1309-1311)GTC>ATC p.V437I CYLC1_uc004eeh.1_Missense_Mutation_p.V436I NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 437 5. cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 TAAAAAGTCTGTCAAGAATGA 0.348000 KLHL4 56062 broad.mit.edu 37 X 86880644 86880644 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chrX:86880644C>A uc004efb.2 + 6 1354 c.1172C>A c.(1171-1173)ACT>AAT p.T391N KLHL4_uc004efa.2_Missense_Mutation_p.T391N NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 391 cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 TCCATGTTTACTGGTGATCTT 0.408000 CD40LG 959 broad.mit.edu 37 X 135741443 135741443 + Missense_Mutation SNP G G A rs148594123 byFrequency TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chrX:135741443G>A uc004faa.2 + 5 727 c.655G>A c.(655-657)GGG>AGG p.G219R CD40LG_uc010nsd.2_Missense_Mutation_p.G198R NM_000074 NP_000065 P29965 CD40L_HUMAN CD40 ligand 219 Extracellular (Potential). G -> R. anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production extracellular space|integral to plasma membrane|soluble fraction CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) Atorvastatin(DB01076) CAAACCTTGCGGGCAACAATC 0.498000 Immune_Deficiency_with_Hyper-IgM LCE1D 353134 broad.mit.edu 37 1 152770308 152770319 + In_Frame_Del DEL CTCCCAAGTGCA CTCCCAAGTGCA - TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr1:152770307_152770318CCTCCCAAGTGCA>C uc021ozh.1 + 0 37_48 c.37_48CCTCCCAAGTGCA>C c.(37-48)cctcccaagtgc>C p.PPKC13del LCE1D_uc009wnp.3_In_Frame_Del_p.PPKC13del NM_178352 NP_848129 Q5T752 LCE1D_HUMAN Homo sapiens late cornified envelope 1D (LCE1D), mRNA. 13 Cys-rich. cellular response to calcium ion|keratinization cornified envelope|perinuclear region of cytoplasm large_intestine(1) 1 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GTGCCAGCCCCctcccaagtgcactcccaagt 0.618 ROBO2 6092 broad.mit.edu 37 3 77617561 77617570 + Frame_Shift_Del DEL CACCACGGTT CACCACGGTT - TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr3:77617560_77617569CCACCACGGTT>C uc011bgk.2 + 13 2601_2610 c.1958_1967CCACCACGGTT>C c.(1957-1968)cccaccacggttfs p.P653fs ROBO2_uc021xat.1_Frame_Shift_Del_p.P665fs|ROBO2_uc003dpy.4_Frame_Shift_Del_p.P649fs|ROBO2_uc003dpz.3_Frame_Shift_Del_p.P653fs|ROBO2_uc011bgj.2_Non-coding_Transcript NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA. 649 Fibronectin type-III 2. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GTGCTGACTCCCACCACGGTTCAGGTCACA 0.462 CCDC158 339965 broad.mit.edu 37 4 77253601 77253605 + Frame_Shift_Del DEL ATCTC ATCTC - TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr4:77253600_77253604GATCTC>G uc003hkb.4 - 18 3004_3008 c.2851_2855GAGATC>C c.(2851-2856)agatcafs p.R951fs NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA. 951 Ser-rich. breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 GCACATGTCTGATCTCAGGCTGGAT 0.337 B3GALTL 145173 broad.mit.edu 37 13 31897994 31897995 + Frame_Shift_Ins INS - - T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 g.chr13:31897993_31897994C>CT uc010aaz.3 + 13 1400_1401 c.1290_1291C>CT c.(1288-1293)ggcttgfs p.G430fs B3GALTL_uc001utn.4_Non-coding_Transcript|B3GALTL_uc001uto.4_Frame_Shift_Ins_p.G35fs NM_194318 NP_919299 Q6Y288 B3GLT_HUMAN Homo sapiens beta 1,3-galactosyltransferase-like (B3GALTL), mRNA. 430 fucose metabolic process endoplasmic reticulum membrane|integral to membrane transferase activity, transferring glycosyl groups breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung SC(185;0.0257) all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184) GCTTTAGTGGCTTGGGAATCCC 0.490