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 PLEKHN1 84069 broad.mit.edu 37 1 909420 909420 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr1:909420G>A uc001ace.2 + 13 1833 c.1798G>A c.(1798-1800)GCC>ACC p.A600T PLEKHN1_uc001acd.2_Missense_Mutation_p.A548T|PLEKHN1_uc001acf.2_Missense_Mutation_p.A513T NM_032129 NP_115505 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing, family N 600 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) GCCCCCAGACGCCCCTCAGCT 0.711000 PHACTR4 65979 broad.mit.edu 37 1 28807116 28807116 + Missense_Mutation SNP G G C rs147207733 by1000genomes TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr1:28807116G>C uc001bpw.2 + 9 2042 c.1760G>C c.(1759-1761)CGG>CCG p.R587P PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.R571P|PHACTR4_uc001bpy.2_Missense_Mutation_p.R597P NM_001048183 NP_001041648 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 isoform 1 587 RPEL 2. actin binding|protein phosphatase inhibitor activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) ACACTGATCCGGTAGGCCTTT 0.373000 PTCH2 8643 broad.mit.edu 37 1 45293539 45293539 + Silent SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr1:45293539C>A uc010olf.1 - 14 2046 c.2034G>T c.(2032-2034)CCG>CCT p.P678P PTCH2_uc010olg.1_Silent_p.P376P NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN patched 2 678 Cytoplasmic (Potential). protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1) 18 Acute lymphoblastic leukemia(166;0.155) GGAGCAGCAACGGGGCAAACT 0.592000 Basal_Cell_Nevus_syndrome BEND5 79656 broad.mit.edu 37 1 49201942 49201942 + Silent SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr1:49201942G>A uc001crx.3 - 5 1121 c.1077C>T c.(1075-1077)CCC>CCT p.P359P AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_Silent_p.P190P NM_024603 NP_078879 Q7L4P6 BEND5_HUMAN BEN domain containing 5 359 BEN. skin(1) 1 GAGGCGAGAGGGGTGGTTTAG 0.458000 C1orf173 127254 broad.mit.edu 37 1 75037172 75037172 + Missense_Mutation SNP A A C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr1:75037172A>C uc001dgg.2 - 14 4441 c.4222T>G c.(4222-4224)TTA>GTA p.L1408V NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1408 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CTCCGTGCTAATTCCTCTACC 0.547000 IFI44L 10964 broad.mit.edu 37 1 79093642 79093642 + Missense_Mutation SNP T T A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr1:79093642T>A uc010oro.1 + 2 221 c.42T>A c.(40-42)CAT>CAA p.H14Q IFI44L_uc010orp.1_Intron|IFI44L_uc010orq.1_Intron NM_006820 NP_006811 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 14 cytoplasm 0 ATGAAAATCATCTGCGCAAGC 0.363000 ZNF644 84146 broad.mit.edu 37 1 91403345 91403345 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr1:91403345G>A uc001dnw.2 - 4 3527 c.3385C>T c.(3385-3387)CGT>TGT p.R1129C ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron NM_201269 NP_958357 Q9H582 ZN644_HUMAN zinc finger protein 644 isoform 1 1129 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) AGGCCATTACGGTATGCTTCA 0.383000 GFI1 2672 broad.mit.edu 37 1 92944272 92944272 + Silent SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr1:92944272G>A uc001dou.3 - 6 1127 c.963C>T c.(961-963)TTC>TTT p.F321F GFI1_uc001dov.3_Silent_p.F321F|GFI1_uc001dow.3_Silent_p.F321F NM_001127215 NP_001120687 Q99684 GFI1_HUMAN growth factor independent 1 321 C2H2-type 3. negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(1) 1 all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203) OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191) ATGACCTCTTGAAGCTCTTCC 0.433000 PDE4DIP 9659 broad.mit.edu 37 1 145075742 145075742 + Nonsense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr1:145075742G>A uc001emh.2 - 1 338 c.121C>T c.(121-123)CAG>TAG p.Q41* NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Nonsense_Mutation_p.Q41*|PDE4DIP_uc001emk.2_Nonsense_Mutation_p.Q41* NM_022359 NP_071754 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 715 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CGTGGGGACTGAGGGGTTCGC 0.736000 T PDGFRB MPD ANKRD35 148741 broad.mit.edu 37 1 145562224 145562224 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr1:145562224C>T uc001eob.1 + 10 2020 c.1912C>T c.(1912-1914)CGG>TGG p.R638W NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.R481W NM_144698 NP_653299 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 638 Potential. ovary(4)|skin(1) 5 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGGGCGGGAGCGGCAGAGGTT 0.607000 ETV3L 440695 broad.mit.edu 37 1 157062655 157062655 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr1:157062655C>T uc001fqq.1 - 5 1157 c.872G>A c.(871-873)GGG>GAG p.G291E NM_001004341 NP_001004341 Q6ZN32 ETV3L_HUMAN ets variant 3-like 291 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(266;0.158) Prostate(1639;0.184) CTGTCCCAGCCCTGCCAAGAG 0.632000 KIRREL 55243 broad.mit.edu 37 1 158057640 158057640 + Missense_Mutation SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr1:158057640T>G uc001frn.3 + 6 1161 c.757T>G c.(757-759)TTG>GTG p.L253V KIRREL_uc010pib.1_Missense_Mutation_p.L153V|KIRREL_uc009wsq.2_Missense_Mutation_p.L89V|KIRREL_uc001fro.3_Missense_Mutation_p.L51V NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 253 Extracellular (Potential).|Ig-like C2-type 3. integral to membrane ovary(1) 1 all_hematologic(112;0.0378) CCCCGAGATCTTGGGCTACAG 0.602000 OREG0013906 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KDM5B 10765 broad.mit.edu 37 1 202715452 202715452 + Splice_Site SNP C C G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr1:202715452C>G uc001gyf.2 - 15 2133 c.2017_splice c.e15-1 p.G673_splice KDM5B_uc009xag.2_Splice_Site_p.G709_splice|KDM5B_uc001gyg.1_Splice_Site_p.G515_splice NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 CAATCACTCCCTAGAATAAAG 0.378000 OR2G2 81470 broad.mit.edu 37 1 247752185 247752185 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr1:247752185G>A uc010pyy.1 + 1 524 c.524G>A c.(523-525)CGC>CAC p.R175H NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 175 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TGTGGGCATCGCCAAGTGGAT 0.552000 OR2G3 81469 broad.mit.edu 37 1 247769166 247769166 + Silent SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr1:247769166T>C uc010pyz.1 + 1 279 c.279T>C c.(277-279)ACT>ACC p.T93T NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 93 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AGACGATCACTTACGGTGGTT 0.468000 OR2M4 26245 broad.mit.edu 37 1 248402821 248402821 + Silent SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr1:248402821A>G uc010pzh.1 + 1 591 c.591A>G c.(589-591)AGA>AGG p.R197R NM_017504 NP_059974 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, 197 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CATTTGAAAGACTACTTGTCA 0.413000 USP6NL 9712 broad.mit.edu 37 10 11523795 11523795 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr10:11523795C>T uc001ikt.3 - 14 1373 c.1052G>A c.(1051-1053)CGG>CAG p.R351Q USP6NL_uc001iks.1_Missense_Mutation_p.R368Q NM_014688 NP_055503 Q92738 US6NL_HUMAN USP6 N-terminal like isoform 1 351 intracellular Rab GTPase activator activity 0 TAACTTTGCCCGCTTTAGTTC 0.363000 C1QL3 389941 broad.mit.edu 37 10 16562644 16562644 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr10:16562644C>T uc001ioj.1 - 1 1361 c.421G>A c.(421-423)GAG>AAG p.E141K NM_001010908 NP_001010908 Q5VWW1 C1QL3_HUMAN complement component 1, q subcomponent-like 3 141 C1q. collagen ovary(1) 1 TTGAGCACCTCGTAGCCTTCA 0.602000 BICC1 80114 broad.mit.edu 37 10 60560026 60560026 + Missense_Mutation SNP G G T rs34714605 TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr10:60560026G>T uc001jki.1 + 13 1798 c.1798G>T c.(1798-1800)GAT>TAT p.D600Y BICC1_uc001jkj.1_Missense_Mutation_p.D241Y NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN bicaudal C homolog 1 600 multicellular organismal development RNA binding ovary(2)|lung(1)|skin(1) 4 AAATCACGGGGATCCGTCCAT 0.403000 CPN1 1369 broad.mit.edu 37 10 101835745 101835745 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr10:101835745C>T uc001kql.2 - 2 603 c.343G>A c.(343-345)GTC>ATC p.V115I NM_001308 NP_001299 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 precursor 115 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding central_nervous_system(3)|pancreas(1) 4 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) ATGAGCTGGACGATGCGCTGG 0.617000 ATRNL1 26033 broad.mit.edu 37 10 117059577 117059577 + Missense_Mutation SNP A A C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr10:117059577A>C uc001lcg.2 + 16 2835 c.2449A>C c.(2449-2451)AAT>CAT p.N817H ATRNL1_uc010qsm.1_5'UTR|ATRNL1_uc010qsn.1_5'Flank NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 817 C-type lectin.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) GCGCAAGATCAATATATCCTA 0.408000 OR51M1 390059 broad.mit.edu 37 11 5411155 5411155 + Missense_Mutation SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr11:5411155A>G uc010qzc.1 + 1 527 c.527A>G c.(526-528)AAG>AGG p.K176R HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, 176 integral to membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCCTCCTGAAGGCTTTTCCC 0.512000 NELL1 4745 broad.mit.edu 37 11 20959354 20959354 + Missense_Mutation SNP A A C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr11:20959354A>C uc001mqe.2 + 10 1173 c.1020A>C c.(1018-1020)AAA>AAC p.K340N NELL1_uc001mqf.2_Missense_Mutation_p.K340N|NELL1_uc009yid.2_Missense_Mutation_p.K368N|NELL1_uc010rdo.1_Missense_Mutation_p.K283N|NELL1_uc010rdp.1_Missense_Mutation_p.K100N NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 340 VWFC 2. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 ATGGAGGAAAAGTTCTTGCAG 0.403000 CD44 960 broad.mit.edu 37 11 35232982 35232982 + Missense_Mutation SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr11:35232982A>G uc001mvu.2 + 14 2230 c.1796A>G c.(1795-1797)AAT>AGT p.N599S CD44_uc001mvv.2_Missense_Mutation_p.N556S|CD44_uc001mvw.2_Missense_Mutation_p.N350S|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Missense_Mutation_p.N286S|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Missense_Mutation_p.N163S|CD44_uc010ret.1_RNA|CD44_uc010reu.1_Missense_Mutation_p.N127S NM_000610 NP_000601 P16070 CD44_HUMAN CD44 antigen isoform 1 precursor 599 Extracellular (Potential).|Stem. cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity pancreas(1) 1 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) TCTAATGTCAATCGTTCCTTA 0.383000 RAG1 5896 broad.mit.edu 37 11 36594879 36594879 + Missense_Mutation SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr11:36594879T>G uc001mwu.3 + 2 149 c.25T>G c.(25-27)TTG>GTG p.L9V RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 9 Interaction with importin alpha-1. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) CCCACCCACCTTGGGACTCAG 0.423000 Familial_Hemophagocytic_Lymphohistiocytosis LRRC4C 57689 broad.mit.edu 37 11 40136913 40136913 + Silent SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr11:40136913C>A uc001mxa.1 - 2 2894 c.930G>T c.(928-930)CTG>CTT p.L310L LRRC4C_uc001mxc.1_Silent_p.L306L|LRRC4C_uc001mxd.1_Silent_p.L306L|LRRC4C_uc001mxb.1_Silent_p.L306L NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 310 LRRCT. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) AGCTGAGCCACAGTATGTCAC 0.478000 CHST1 8534 broad.mit.edu 37 11 45671646 45671646 + Silent SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr11:45671646G>A uc001mys.1 - 4 1499 c.828C>T c.(826-828)TGC>TGT p.C276C NM_003654 NP_003645 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) 276 Lumenal (Potential). galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity skin(4)|pancreas(1) 5 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) AGAAGTCCTCGCACACCGTGG 0.647000 OR4A47 403253 broad.mit.edu 37 11 48510689 48510689 + Silent SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr11:48510689G>T uc010rhx.1 + 1 345 c.345G>T c.(343-345)GTG>GTT p.V115V NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, 115 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TCCTGTTGGTGATGGCCTATG 0.473000 OR8H3 390152 broad.mit.edu 37 11 55890635 55890635 + Missense_Mutation SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr11:55890635A>G uc001nii.1 + 1 787 c.787A>G c.(787-789)AGA>GGA p.R263G NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 263 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) CTTAAAGCCAAGAAAGTCTTA 0.388000 OR9Q2 219957 broad.mit.edu 37 11 57958763 57958763 + Silent SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr11:57958763C>A uc010rka.1 + 1 801 c.801C>A c.(799-801)TCC>TCA p.S267S NM_001005283 NP_001005283 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, 267 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1)|central_nervous_system(1) 4 Breast(21;0.0589) CAGGCCAGTCCTCCGAGGGAG 0.562000 TYR 7299 broad.mit.edu 37 11 88961116 88961116 + Missense_Mutation SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr11:88961116C>A uc001pcs.2 + 3 1244 c.1162C>A c.(1162-1164)CTT>ATT p.L388I NM_000372 NP_000363 P14679 TYRO_HUMAN tyrosinase precursor 388 Lumenal, melanosome (Potential). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) TATCTTCCTTCTTCACCATGC 0.398000 Oculocutaneous_Albinism FAM76B 143684 broad.mit.edu 37 11 95509183 95509183 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr11:95509183G>A uc001pfn.2 - 9 1145 c.833C>T c.(832-834)ACT>ATT p.T278I FAM76B_uc001pfm.2_RNA NM_144664 NP_653265 Q5HYJ3 FA76B_HUMAN hypothetical protein LOC143684 278 Potential. 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CTTTAGTTCAGTTAACTGAGA 0.313000 DRD2 1813 broad.mit.edu 37 11 113295233 113295233 + Silent SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr11:113295233G>T uc001pnz.2 - 1 462 c.141C>A c.(139-141)GTC>GTA p.V47V DRD2_uc010rwv.1_Silent_p.V47V|DRD2_uc001poa.3_Silent_p.V47V|DRD2_uc001pob.3_Silent_p.V47V|DRD2_uc009yyr.1_Silent_p.V47V NM_000795 NP_000786 P14416 DRD2_HUMAN dopamine receptor D2 isoform long 47 Helical; Name=1; (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding pancreas(1)|skin(1) 2 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) CGAAGACGATGACAGCGATGA 0.617000 OR8B4 283162 broad.mit.edu 37 11 124294043 124294043 + Missense_Mutation SNP G G C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr11:124294043G>C uc010sak.1 - 1 725 c.725C>G c.(724-726)TCC>TGC p.S242C NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 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;0.0279) AATTATGTGGGAGCCCCATGT 0.463000 OPCML 4978 broad.mit.edu 37 11 132290089 132290089 + Nonstop_Mutation SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr11:132290089A>G uc001qgs.2 - 7 1086 c.1036T>C c.(1036-1038)TGA>CGA p.*346R OPCML_uc001qgu.2_Nonstop_Mutation_p.*339R|OPCML_uc010sck.1_Nonstop_Mutation_p.*355R|OPCML_uc001qgt.2_Nonstop_Mutation_p.*345R|OPCML_uc010scl.1_Nonstop_Mutation_p.*305R NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 346 cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity ovary(2)|skin(1) 3 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) ATTTCTTATCAAAACTTGATG 0.478000 KCNA1 3736 broad.mit.edu 37 12 5020801 5020801 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr12:5020801G>A uc001qnh.2 + 2 1362 c.257G>A c.(256-258)CGG>CAG p.R86Q NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 86 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GACCGCAACCGGCCCAGCTTC 0.612000 GAPDH 2597 broad.mit.edu 37 12 6647006 6647006 + Missense_Mutation SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr12:6647006T>C uc001qop.1 + 8 884 c.782T>C c.(781-783)GTG>GCG p.V261A GAPDH_uc009zep.1_Missense_Mutation_p.V219A|GAPDH_uc001qoq.1_Missense_Mutation_p.V186A|GAPDH_uc001qor.1_Missense_Mutation_p.V220A|GAPDH_uc001qos.1_Missense_Mutation_p.V261A|GAPDH_uc001qot.1_Missense_Mutation_p.V261A|GAPDH_uc001qou.1_Missense_Mutation_p.V220A|GAPDH_uc001qov.1_Missense_Mutation_p.V219A|GAPDH_uc001qow.1_Missense_Mutation_p.V214A|GAPDH_uc001qox.1_Missense_Mutation_p.V87A NM_002046 NP_002037 P04406 G3P_HUMAN glyceraldehyde-3-phosphate dehydrogenase 261 gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization cytosol|membrane|nucleus|perinuclear region of cytoplasm glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding 0 NADH(DB00157) ATCAAGAAGGTGGTGAAGCAG 0.587000 OREG0021628 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ETV6 2120 broad.mit.edu 37 12 12022503 12022503 + Silent SNP C C G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr12:12022503C>G uc001qzz.2 + 5 883 c.609C>G c.(607-609)TCC>TCG p.S203S ETV6_uc001raa.1_5'UTR NM_001987 NP_001978 P41212 ETV6_HUMAN ets variant 6 203 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/NTRK3(234)|ETV6/JAK2(11) soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1) 250 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) CCCTCCGGTCCCCCCTGGACA 0.632000 T NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5 congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL ST8SIA1 6489 broad.mit.edu 37 12 22408298 22408298 + Missense_Mutation SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr12:22408298T>G uc001rfo.3 - 3 889 c.407A>C c.(406-408)AAG>ACG p.K136T ST8SIA1_uc009zix.2_Intron NM_003034 NP_003025 Q92185 SIA8A_HUMAN alpha-2,8-sialyltransferase 1 136 Lumenal (Potential). glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(3) 3 CGCGCATTTCTTCAATGGCAG 0.478000 ARID2 196528 broad.mit.edu 37 12 46231349 46231349 + Nonsense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr12:46231349C>T uc001ros.1 + 10 1189 c.1189C>T c.(1189-1191)CAG>TAG p.Q397* ARID2_uc001ror.2_Nonsense_Mutation_p.Q397*|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q43*|ARID2_uc001rot.1_Nonsense_Mutation_p.Q43* NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 397 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) ATATGTGGATCAGGATTCCTA 0.368000 SCN8A 6334 broad.mit.edu 37 12 52100394 52100394 + Silent SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr12:52100394G>A uc001ryw.2 + 11 1708 c.1530G>A c.(1528-1530)GGG>GGA p.G510G SCN8A_uc010snl.1_Silent_p.G375G|SCN8A_uc001ryx.1_Silent_p.G375G|SCN8A_uc001ryz.1_Silent_p.G375G|SCN8A_uc001ryy.2_Silent_p.G375G NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 510 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) AGGAGAAAGGGGATCCCGAGA 0.453000 HOXC6 3223 broad.mit.edu 37 12 54423485 54423485 + Silent SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr12:54423485G>A uc001sev.2 + 2 559 c.447G>A c.(445-447)TCG>TCA p.S149S HOXC6_uc001ses.2_Silent_p.S67S|HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron NM_004503 NP_004494 P09630 HXC6_HUMAN homeobox C6 isoform 1 149 Homeobox. regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2)|upper_aerodigestive_tract(1) 3 AGATCTACTCGCGGTACCAGA 0.597000 NAV3 89795 broad.mit.edu 37 12 78444720 78444720 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr12:78444720G>A uc001syp.2 + 11 2482 c.2309G>A c.(2308-2310)CGA>CAA p.R770Q NAV3_uc001syo.2_Missense_Mutation_p.R770Q|NAV3_uc010sub.1_Missense_Mutation_p.R270Q NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 770 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.R770Q(1) large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 GGTACCAGTCGATTCATCCAC 0.592000 HNSCC(70;0.22) LIN7A 8825 broad.mit.edu 37 12 81283099 81283099 + Missense_Mutation SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr12:81283099T>G uc001szj.1 - 2 325 c.132A>C c.(130-132)GAA>GAC p.E44D LIN7A_uc001szk.1_RNA NM_004664 NP_004655 O14910 LIN7A_HUMAN lin-7 homolog A 44 L27. exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding ovary(1)|skin(1) 2 GCACTGGTACTTCTCCAGATT 0.333000 CUX2 23316 broad.mit.edu 37 12 111779799 111779799 + Missense_Mutation SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr12:111779799C>A uc001tsa.1 + 21 3754 c.3601C>A c.(3601-3603)CTC>ATC p.L1201I NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 1201 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 CATCGAGCTCCTCTCCTTCCA 0.607000 TMEM132D 121256 broad.mit.edu 37 12 129563232 129563232 + Missense_Mutation SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr12:129563232C>A uc009zyl.1 - 8 2290 c.1962G>T c.(1960-1962)AAG>AAT p.K654N TMEM132D_uc001uia.2_Missense_Mutation_p.K192N NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 654 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CAGTGATGGTCTTTTCAGCGA 0.567000 SACS 26278 broad.mit.edu 37 13 23905184 23905184 + Silent SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr13:23905184A>G uc001uon.2 - 10 13420 c.12831T>C c.(12829-12831)CCT>CCC p.P4277P SACS_uc001uoo.2_Silent_p.P4130P|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 4277 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AGAAAAGAGGAGGAATGCTTC 0.463000 HSPH1 10808 broad.mit.edu 37 13 31725791 31725791 + Silent SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr13:31725791T>C uc001utj.2 - 6 1016 c.618A>G c.(616-618)TCA>TCG p.S206S HSPH1_uc001utk.2_Silent_p.S206S|HSPH1_uc010aaw.2_Silent_p.S165S|HSPH1_uc001utl.2_Silent_p.S208S|HSPH1_uc010tds.1_Intron|HSPH1_uc010tdt.1_Intron NM_006644 NP_006635 Q92598 HS105_HUMAN heat shock 105kD 206 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding 0 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) CTTGAAAAGCTGAATGTCCCA 0.373000 NBEA 26960 broad.mit.edu 37 13 36242529 36242529 + Missense_Mutation SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr13:36242529C>A uc001uvb.2 + 57 8829 c.8623C>A c.(8623-8625)CAG>AAG p.Q2875K NBEA_uc010abi.2_Missense_Mutation_p.Q1533K|NBEA_uc010tef.1_Missense_Mutation_p.Q668K|NBEA_uc001uvd.2_Missense_Mutation_p.Q453K NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2875 WD 4. cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CAGTGACGGCCAGAACCTGGT 0.418000 TRPC4 7223 broad.mit.edu 37 13 38229234 38229234 + Silent SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr13:38229234T>C uc001uws.2 - 7 2110 c.1875A>G c.(1873-1875)CAA>CAG p.Q625Q TRPC4_uc010abv.2_Silent_p.Q205Q|TRPC4_uc001uwt.2_Silent_p.Q625Q|TRPC4_uc010tey.1_Silent_p.Q625Q|TRPC4_uc010abw.2_Silent_p.Q452Q|TRPC4_uc010abx.2_Silent_p.Q625Q|TRPC4_uc010aby.2_Silent_p.Q625Q NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 625 Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CAGCAATCAGTTGGTAAGAAT 0.338000 SLITRK5 26050 broad.mit.edu 37 13 88329829 88329829 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr13:88329829C>T uc001vln.2 + 2 2405 c.2186C>T c.(2185-2187)GCG>GTG p.A729V SLITRK5_uc010tic.1_Missense_Mutation_p.A488V NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 729 Cytoplasmic (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) CACCCACACGCGCACGTGCAT 0.657000 IPO5 3843 broad.mit.edu 37 13 98654779 98654779 + Silent SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr13:98654779C>T uc001vnf.1 + 11 1232 c.1167C>T c.(1165-1167)TGC>TGT p.C389C IPO5_uc001vne.2_Silent_p.C407C|IPO5_uc010tik.1_Silent_p.C264C|IPO5_uc010til.1_Silent_p.C329C|IPO5_uc001vng.1_Silent_p.C10C NM_002271 NP_002262 O00410 IPO5_HUMAN importin 5 389 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding ovary(1)|lung(1)|skin(1) 3 GTGAAGGGTGCCACCAGCAAA 0.373000 NALCN 259232 broad.mit.edu 37 13 102030937 102030937 + Missense_Mutation SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr13:102030937A>G uc001vox.1 - 4 548 c.359T>C c.(358-360)GTT>GCT p.V120A NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.V120A|NALCN_uc001vpa.2_Missense_Mutation_p.V120A NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 120 Helical; Name=S3 of repeat I; (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) CACCAAAGAAACCCAAAGGCA 0.308000 SOX1 6656 broad.mit.edu 37 13 112722355 112722355 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr13:112722355C>T uc001vsb.1 + 1 443 c.383C>T c.(382-384)ACG>ATG p.T128M NM_005986 NP_005977 O00570 SOX1_HUMAN SRY (sex determining region Y)-box 1 128 chromatin organization nucleus core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231) OV - Ovarian serous cystadenocarcinoma(48;0.132) AAGACCAAGACGCTGCTCAAG 0.507000 TRIM9 114088 broad.mit.edu 37 14 51561231 51561231 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr14:51561231G>A uc001wyx.3 - 1 1192 c.427C>T c.(427-429)CGC>TGC p.R143C TRIM9_uc001wyy.2_Missense_Mutation_p.R143C|TRIM9_uc001wyz.3_Missense_Mutation_p.R143C NM_015163 NP_055978 Q9C026 TRIM9_HUMAN tripartite motif protein 9 isoform 1 143 proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding skin(2)|lung(1) 3 all_epithelial(31;0.00418)|Breast(41;0.148) GGGAAGCCGCGGAGCCCCCGG 0.662000 TMX1 81542 broad.mit.edu 37 14 51721136 51721136 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr14:51721136G>A uc001wza.3 + 8 867 c.742G>A c.(742-744)GAA>AAA p.E248K TMX1_uc010aoa.2_Missense_Mutation_p.E164K NM_030755 NP_110382 Q9H3N1 TMX1_HUMAN thioredoxin domain containing 1 precursor 248 Cytoplasmic (Potential). anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction endoplasmic reticulum membrane|integral to membrane|membrane fraction arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity 0 AGATGTTTCAGAAGAAGAAGC 0.383000 FBXO34 55030 broad.mit.edu 37 14 55818684 55818684 + Missense_Mutation SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr14:55818684G>T uc001xbu.2 + 2 1821 c.1576G>T c.(1576-1578)GGG>TGG p.G526W FBXO34_uc001xbv.2_RNA|FBXO34_uc010aoo.2_Missense_Mutation_p.G526W NM_017943 NP_060413 Q9NWN3 FBX34_HUMAN F-box only protein 34 526 ovary(2)|lung(2)|skin(1) 5 GGAAAAAAGTGGGTCTGCTGA 0.493000 KIAA0317 9870 broad.mit.edu 37 14 75143434 75143434 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr14:75143434G>A uc001xqb.2 - 6 1008 c.503C>T c.(502-504)ACC>ATC p.T168I KIAA0317_uc010tut.1_Missense_Mutation_p.T7I|KIAA0317_uc001xqc.2_Missense_Mutation_p.T168I NM_001039479 NP_001034568 O15033 K0317_HUMAN hypothetical protein LOC9870 168 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane|intracellular ubiquitin-protein ligase activity ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00404) CACAATTTTGGTCTTAGAAGG 0.323000 MARK3 4140 broad.mit.edu 37 14 103934456 103934456 + Silent SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr14:103934456G>A uc001ymz.3 + 12 1863 c.1197G>A c.(1195-1197)CAG>CAA p.Q399Q MARK3_uc001ymx.3_Silent_p.Q399Q|MARK3_uc001ymw.3_Silent_p.Q399Q|MARK3_uc001yna.3_Silent_p.Q383Q|MARK3_uc001ymy.3_Silent_p.Q320Q|MARK3_uc010awp.2_Silent_p.Q422Q|MARK3_uc010tyb.1_Silent_p.Q194Q NM_001128918 NP_001122390 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 399 ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|stomach(1) 4 Melanoma(154;0.155) Epithelial(46;0.241) GTACTGGCCAGTCTCCTCACC 0.448000 AHNAK2 113146 broad.mit.edu 37 14 105416442 105416442 + Silent SNP C C G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr14:105416442C>G uc010axc.1 - 7 5466 c.5346G>C c.(5344-5346)GTG>GTC p.V1782V AHNAK2_uc001ypx.2_Silent_p.V1682V NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1782 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GAGACACCTCCACGTCGGGGG 0.657000 GANC 2595 broad.mit.edu 37 15 42641627 42641627 + Missense_Mutation SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr15:42641627A>G uc001zpi.2 + 22 2779 c.2465A>G c.(2464-2466)CAA>CGA p.Q822R CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_5'UTR NM_198141 NP_937784 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 822 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity central_nervous_system(2) 2 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) CATTCATTCCAATACCTCCAC 0.383000 EPB42 2038 broad.mit.edu 37 15 43494042 43494042 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr15:43494042C>T uc001zra.3 - 12 2213 c.1913G>A c.(1912-1914)AGA>AAA p.R638K EPB42_uc001zqz.3_Missense_Mutation_p.R305K|EPB42_uc010bde.2_Silent_p.Q429Q|EPB42_uc001zrb.3_Missense_Mutation_p.R668K|EPB42_uc010udm.1_Missense_Mutation_p.R560K NM_001114134 NP_001107606 P16452 EPB42_HUMAN erythrocyte membrane protein band 4.2 isoform 2 638 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton ovary(2) 2 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) CATCACTTACCTGTAGCTCCT 0.542000 TP53BP1 7158 broad.mit.edu 37 15 43701941 43701941 + Splice_Site SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr15:43701941T>C uc001zrs.2 - 25 5439 c.5291_splice c.e25-1 p.E1764_splice TP53BP1_uc010udp.1_Splice_Site_p.E1762_splice|TP53BP1_uc001zrq.3_Splice_Site_p.E1767_splice|TP53BP1_uc001zrr.3_Splice_Site_p.E1769_splice|TP53BP1_uc001zrp.2_Splice_Site_p.E181_splice NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1) 7 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) CCAAAAATTCTATATTAAAAA 0.393000 Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes SEMA6D 80031 broad.mit.edu 37 15 48056124 48056124 + Silent SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr15:48056124T>G uc010bek.2 + 10 1185 c.825T>G c.(823-825)ACT>ACG p.T275T SEMA6D_uc001zvw.2_Silent_p.T275T|SEMA6D_uc001zvx.1_Silent_p.T275T|SEMA6D_uc001zvy.2_Silent_p.T275T|SEMA6D_uc001zvz.2_Silent_p.T275T|SEMA6D_uc001zwa.2_Silent_p.T275T|SEMA6D_uc001zwb.2_Silent_p.T275T|SEMA6D_uc001zwc.2_Silent_p.T275T NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 275 Sema.|Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) AACACTGGACTTCATTTCTAA 0.473000 ADAMTSL3 57188 broad.mit.edu 37 15 84651800 84651800 + Silent SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr15:84651800C>A uc002bjz.3 + 21 3644 c.3420C>A c.(3418-3420)GGC>GGA p.G1140G ADAMTSL3_uc010bmt.1_Silent_p.G1140G|ADAMTSL3_uc010bmu.1_Silent_p.G1140G NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 1140 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) AGTGGCGGGGCATCCAGGAAG 0.552000 RLBP1 6017 broad.mit.edu 37 15 89760498 89760498 + Missense_Mutation SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr15:89760498G>T uc002bnl.2 - 5 579 c.199C>A c.(199-201)CAG>AAG p.Q67K NM_000326 NP_000317 P12271 RLBP1_HUMAN retinaldehyde binding protein 1 67 response to stimulus|visual perception|vitamin A metabolic process cytoplasm|soluble fraction retinol binding|transporter activity central_nervous_system(1) 1 Lung NSC(78;0.0472)|all_lung(78;0.089) Vitamin A(DB00162) ACCATCTCCTGCAGCTCTCGC 0.632000 IQGAP1 8826 broad.mit.edu 37 15 91035841 91035841 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr15:91035841C>T uc002bpl.1 + 35 4627 c.4526C>T c.(4525-4527)ACA>ATA p.T1509I IQGAP1_uc010uqg.1_Missense_Mutation_p.T130I NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1509 C2. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) CTGCAACAGACATACGCTGCT 0.433000 CHD2 1106 broad.mit.edu 37 15 93467679 93467679 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr15:93467679C>T uc002bsp.2 + 3 766 c.191C>T c.(190-192)TCG>TTG p.S64L CHD2_uc002bsm.1_Missense_Mutation_p.S64L|CHD2_uc002bsn.2_Missense_Mutation_p.S64L|CHD2_uc002bso.1_Missense_Mutation_p.S64L|CHD2_uc010urb.1_Missense_Mutation_p.S77L NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 64 Ser-rich. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) GAGAGTCAGTCGGAATCTGAG 0.527000 RHOT2 89941 broad.mit.edu 37 16 720267 720267 + Silent SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr16:720267G>A uc002cip.2 + 7 415 c.348G>A c.(346-348)GTG>GTA p.V116V RHOT2_uc002ciq.2_Silent_p.V9V|RHOT2_uc010bqy.2_5'Flank NM_138769 NP_620124 Q8IXI1 MIRO2_HUMAN ras homolog gene family, member T2 116 Miro 1.|Mitochondrial intermembrane (Potential). apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding pancreas(1) 1 Hepatocellular(780;0.0218) TCATCCTAGTGGGCAACAAGT 0.637000 A2BP1 54715 broad.mit.edu 37 16 7703860 7703860 + Silent SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr16:7703860C>T uc002cys.2 + 12 1789 c.801C>T c.(799-801)TAC>TAT p.Y267Y A2BP1_uc010buf.1_Silent_p.Y267Y|A2BP1_uc002cyr.1_Silent_p.Y266Y|A2BP1_uc002cyt.2_Silent_p.Y240Y|A2BP1_uc010uxz.1_Silent_p.Y310Y|A2BP1_uc010uya.1_Silent_p.Y224Y|A2BP1_uc002cyv.1_Silent_p.Y267Y|A2BP1_uc010uyb.1_Silent_p.Y267Y|A2BP1_uc002cyw.2_Silent_p.Y287Y|A2BP1_uc002cyy.2_Silent_p.Y287Y|A2BP1_uc002cyx.2_Silent_p.Y287Y|A2BP1_uc010uyc.1_Silent_p.Y260Y NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 267 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) CGGCCGCCTACCGAGGGGCGC 0.602000 XYLT1 64131 broad.mit.edu 37 16 17352902 17352902 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr16:17352902G>A uc002dfa.2 - 3 941 c.856C>T c.(856-858)CGC>TGC p.R286C NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 286 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 AACTTGTGGCGGCAGTAAGTC 0.607000 VWA3A 146177 broad.mit.edu 37 16 22130291 22130291 + Silent SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr16:22130291C>T uc010vbq.1 + 12 1155 c.1059C>T c.(1057-1059)CAC>CAT p.H353H VWA3A_uc010bxd.2_5'Flank|VWA3A_uc010bxc.2_Silent_p.H340H NM_173615 NP_775886 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 353 Potential. extracellular region skin(1) 1 GBM - Glioblastoma multiforme(48;0.0439) TCCTCAGCCACGTGCAAGCCC 0.612000 SLC5A2 6524 broad.mit.edu 37 16 31500028 31500028 + Silent SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr16:31500028C>T uc002ecf.3 + 10 1234 c.1215C>T c.(1213-1215)TTC>TTT p.F405F SLC5A2_uc010car.2_Intron|C16orf58_uc002ecg.2_RNA NM_003041 NP_003032 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose 405 Extracellular (Potential). carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity ovary(1) 1 GCACGCTCTTCACCATGGACA 0.697000 CES1 1066 broad.mit.edu 37 16 55857581 55857581 + Silent SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr16:55857581G>T uc002eim.2 - 4 525 c.417C>A c.(415-417)ATC>ATA p.I139I CES1_uc002eil.2_Silent_p.I140I|CES1_uc002ein.2_Silent_p.I139I NM_001025194 NP_001020365 P23141 EST1_HUMAN carboxylesterase 1 isoform b precursor 139 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) CCCCTCCGTGGATCCACACCA 0.557000 KCTD19 146212 broad.mit.edu 37 16 67325601 67325601 + Silent SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr16:67325601C>T uc002esu.2 - 13 2409 c.2358G>A c.(2356-2358)ACG>ACA p.T786T KCTD19_uc002est.2_Silent_p.T558T|KCTD19_uc010vjj.1_Silent_p.T529T NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN potassium channel tetramerisation domain 786 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) TGTCCATCTCCGTGGTATAGA 0.607000 ZCCHC14 23174 broad.mit.edu 37 16 87451107 87451107 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr16:87451107G>A uc002fjz.1 - 8 958 c.931C>T c.(931-933)CAC>TAC p.H311Y ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.H87Y NM_015144 NP_055959 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 311 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding upper_aerodigestive_tract(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0285) TAATACTTGTGCAAACGCAGT 0.507000 OREG0024030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NXN 64359 broad.mit.edu 37 17 729219 729219 + Missense_Mutation SNP T T A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr17:729219T>A uc002fsa.2 - 2 552 c.460A>T c.(460-462)ATC>TTC p.I154F NXN_uc002fsb.1_Missense_Mutation_p.I41F|NXN_uc002frz.2_5'UTR|NXN_uc010vqe.1_Missense_Mutation_p.I46F NM_022463 NP_071908 Q6DKJ4 NXN_HUMAN nucleoredoxin 154 cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway cytosol|nucleus protein-disulfide reductase activity ovary(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (25;0.0237) TCATCTCGGATCACCAGCAGC 0.522000 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr17:7578212G>A uc002gim.2 - 6 831 c.637C>T c.(637-639)CGA>TGA p.R213* TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 213 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACACTATGTCGAAAAGTGTTT 0.532000 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) EFNB3 1949 broad.mit.edu 37 17 7611546 7611546 + Silent SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr17:7611546G>T uc002gis.2 + 2 790 c.393G>T c.(391-393)TCG>TCT p.S131S NM_001406 NP_001397 Q15768 EFNB3_HUMAN ephrin-B3 precursor 131 Extracellular (Potential). cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity ovary(1) 1 all_cancers(10;1.14e-06)|Prostate(122;0.081) AGTTCCGCTCGCACCACGATT 0.572000 TAF15 8148 broad.mit.edu 37 17 34160922 34160922 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr17:34160922G>A uc002hkd.2 + 8 703 c.617G>A c.(616-618)CGC>CAC p.R206H TAF15_uc010ctw.1_Intron|TAF15_uc002hkc.2_Missense_Mutation_p.R203H NM_139215 NP_631961 Q92804 RBP56_HUMAN TBP-associated factor 15 isoform 1 206 Gln/Gly/Ser/Tyr-rich. positive regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding TAF15/NR4A3(33) bone(33)|lung(1)|skin(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) GGTGGTGACCGCGGTGGCTTC 0.413000 T TEC|CHN1|ZNF384 extraskeletal myxoid chondrosarcomas|ALL KRT35 3886 broad.mit.edu 37 17 39633390 39633390 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr17:39633390G>A uc002hws.2 - 7 1329 c.1286C>T c.(1285-1287)GCG>GTG p.A429V NM_002280 NP_002271 Q92764 KRT35_HUMAN keratin 35 429 Tail. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity ovary(1)|skin(1) 2 Breast(137;0.000286) GCAGGAGGCCGCAGGAAGACA 0.572000 DUS1L 64118 broad.mit.edu 37 17 80017925 80017925 + Missense_Mutation SNP C C T rs138475537 TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr17:80017925C>T uc002kdq.2 - 10 1486 c.1067G>A c.(1066-1068)CGG>CAG p.R356Q DUS1L_uc002kdp.2_Missense_Mutation_p.R225Q|DUS1L_uc002kdr.2_Missense_Mutation_p.R356Q|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA NM_022156 NP_071439 Q6P1R4 DUS1L_HUMAN PP3111 protein 356 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity skin(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) CTCCAGGGCCCGCTTGCTGCG 0.652000 FASN 2194 broad.mit.edu 37 17 80039961 80039961 + Silent SNP C C A rs146309529 TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr17:80039961C>A uc002kdu.2 - 36 6204 c.6087G>T c.(6085-6087)GCG>GCT p.A2029A FASN_uc002kdv.1_RNA NM_004104 NP_004095 P49327 FAS_HUMAN fatty acid synthase 2029 Beta-ketoacyl reductase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) TGCTCTGTCCCGCATTGCCAC 0.567000 L3MBTL4 91133 broad.mit.edu 37 18 6239858 6239858 + Missense_Mutation SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr18:6239858G>T uc002kmz.3 - 9 726 c.566C>A c.(565-567)TCT>TAT p.S189Y L3MBTL4_uc010dkt.2_Missense_Mutation_p.S189Y|L3MBTL4_uc002kmy.3_Missense_Mutation_p.S27Y NM_173464 NP_775735 Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 189 MBT 2. chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|pancreas(1) 3 Colorectal(10;0.0249) AAATTCTTTAGACATTGGCCC 0.468000 ARHGAP28 79822 broad.mit.edu 37 18 6859866 6859866 + Silent SNP G G C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr18:6859866G>C uc010wzi.1 + 4 403 c.165G>C c.(163-165)GGG>GGC p.G55G ARHGAP28_uc002knc.2_Silent_p.G180G|ARHGAP28_uc002knd.2_Silent_p.G73G|ARHGAP28_uc002kne.2_Silent_p.G73G|ARHGAP28_uc002knf.2_Silent_p.G64G B4DXL2 B4DXL2_HUMAN SubName: Full=Putative uncharacterized protein ARHGAP28; 55 signal transduction intracellular pancreas(1) 1 Colorectal(10;0.168) ATAAAGAAGGGAGTTTTGCGG 0.433000 CTAGE1 64693 broad.mit.edu 37 18 19997725 19997725 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr18:19997725C>T uc002ktv.1 - 1 154 c.50G>A c.(49-51)CGT>CAT p.R17H NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 17 Helical; (Potential). integral to membrane ovary(1) 1 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) AACAGCTGCACGTATCACCAA 0.468000 DCC 1630 broad.mit.edu 37 18 51053126 51053126 + Silent SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr18:51053126C>A uc002lfe.1 + 28 4838 c.4251C>A c.(4249-4251)GCC>GCA p.A1417A DCC_uc010dpf.1_Silent_p.A1050A NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 1417 Cytoplasmic (Potential). 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) AGGATTCAGCCAATGTAAGGG 0.478000 MED16 10025 broad.mit.edu 37 19 872114 872114 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr19:872114G>A uc002lqd.1 - 12 2061 c.1910C>T c.(1909-1911)TCC>TTC p.S637F MED16_uc010drw.1_Intron|MED16_uc002lqe.2_Missense_Mutation_p.S626F|MED16_uc002lqf.2_Missense_Mutation_p.S626F NM_005481 NP_005472 Q9Y2X0 MED16_HUMAN mediator complex subunit 16 637 WD 4. androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCAGCAGGGAACCCTGCCC 0.627000 MUC16 94025 broad.mit.edu 37 19 9066275 9066275 + Missense_Mutation SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr19:9066275C>A uc002mkp.2 - 3 21375 c.21171G>T c.(21169-21171)AAG>AAT p.K7057N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7059 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTGAATGAGTCTTTGCCTGGG 0.493000 ZNF439 90594 broad.mit.edu 37 19 11978219 11978219 + Missense_Mutation SNP A A C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr19:11978219A>C uc002mss.2 + 3 463 c.335A>C c.(334-336)AAG>ACG p.K112T ZNF439_uc002msr.2_5'UTR NM_152262 NP_689475 Q8NDP4 ZN439_HUMAN zinc finger protein 439 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 TTCCAGAAGAAGAAAGCTTCT 0.413000 PVRL2 5819 broad.mit.edu 37 19 45368587 45368587 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr19:45368587G>A uc002ozw.1 + 2 538 c.148G>A c.(148-150)GTG>ATG p.V50M PVRL2_uc002ozv.2_Missense_Mutation_p.V50M NM_001042724 NP_001036189 Q92692 PVRL2_HUMAN poliovirus receptor related 2 isoform delta 50 Ig-like V-type.|Extracellular (Potential). adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) CGGGGGCACCGTGGAGCTGCC 0.642000 ZNF347 84671 broad.mit.edu 37 19 53645699 53645699 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr19:53645699C>T uc002qbb.1 - 5 451 c.382G>A c.(382-384)GGA>AGA p.G128R ZNF347_uc010eql.1_Missense_Mutation_p.G129R|ZNF347_uc002qbc.1_Missense_Mutation_p.G129R NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 128 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) AAGGAACATCCTTCAATGTCT 0.398000 PTPRH 5794 broad.mit.edu 37 19 55693420 55693420 + Missense_Mutation SNP C C G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr19:55693420C>G uc002qjq.2 - 19 3235 c.3162G>C c.(3160-3162)AAG>AAC p.K1054N PTPRH_uc010esv.2_Missense_Mutation_p.K876N|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 1054 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) TCTCTCTCATCTTCCTTACAA 0.637000 BRSK1 84446 broad.mit.edu 37 19 55823347 55823347 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr19:55823347C>T uc002qkg.2 + 19 2525 c.2248C>T c.(2248-2250)CGC>TGC p.R750C BRSK1_uc002qkf.2_Missense_Mutation_p.R766C|BRSK1_uc002qkh.2_Missense_Mutation_p.R445C NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 750 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1) 6 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) CCCACCCGGCCGCCCAGACCC 0.701000 NLRP8 126205 broad.mit.edu 37 19 56466131 56466131 + Missense_Mutation SNP A A G rs144060853 byFrequency TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr19:56466131A>G uc002qmh.2 + 3 778 c.707A>G c.(706-708)AAG>AGG p.K236R NLRP8_uc010etg.2_Missense_Mutation_p.K236R NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 236 NACHT. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TACGCCCACAAGCGCTGGTGT 0.532000 ZNF470 388566 broad.mit.edu 37 19 57088868 57088868 + Silent SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr19:57088868T>C uc002qnl.3 + 6 1747 c.1071T>C c.(1069-1071)CAT>CAC p.H357H ZNF470_uc010etn.2_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN zinc finger protein 470 357 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) CCCTAGCTCATCATCGAAGGA 0.438000 PEG3 5178 broad.mit.edu 37 19 57335788 57335788 + Missense_Mutation SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr19:57335788G>T uc002qnu.2 - 1 587 c.236C>A c.(235-237)ACC>AAC p.T79N ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_5'UTR|ZIM2_uc002qnq.2_5'UTR|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_5'UTR|PEG3_uc002qnt.2_Missense_Mutation_p.T79N|PEG3_uc002qnv.2_Missense_Mutation_p.T79N|PEG3_uc002qnw.2_5'UTR|PEG3_uc002qnx.2_5'UTR|PEG3_uc010etr.2_Missense_Mutation_p.T79N NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 79 SCAN box. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CTTGGTGCGGGTCTCCGGCTG 0.532000 PXDN 7837 broad.mit.edu 37 2 1652213 1652213 + Silent SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr2:1652213G>T uc002qxa.2 - 17 3403 c.3339C>A c.(3337-3339)GGC>GGA p.G1113G NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1113 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GCGGATCGATGCCGCCCTCAT 0.592000 PXDN 7837 broad.mit.edu 37 2 1677547 1677547 + Missense_Mutation SNP A A C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr2:1677547A>C uc002qxa.2 - 9 950 c.886T>G c.(886-888)TTG>GTG p.L296V PXDN_uc002qxb.1_Missense_Mutation_p.L296V|PXDN_uc002qxc.1_Missense_Mutation_p.L113V NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 296 Ig-like C2-type 1. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TCGTCCAGCAAGTTTAGGCGG 0.502000 PUM2 23369 broad.mit.edu 37 2 20511426 20511426 + Splice_Site SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr2:20511426T>C uc002rds.1 - 4 372 c.349_splice c.e4-1 p.G117_splice PUM2_uc002rdt.1_Splice_Site_p.G117_splice|PUM2_uc002rdr.2_Splice_Site_p.G56_splice|PUM2_uc010yjy.1_Splice_Site_p.G117_splice|PUM2_uc002rdu.1_Splice_Site_p.G117_splice|PUM2_uc010yjz.1_Splice_Site_p.G56_splice NM_015317 NP_056132 Q8TB72 PUM2_HUMAN pumilio homolog 2 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) TCTAGTGCCCTGAGGAAAAAG 0.383000 OTOF 9381 broad.mit.edu 37 2 26688846 26688846 + Silent SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr2:26688846G>A uc002rhk.2 - 37 4726 c.4599C>T c.(4597-4599)ATC>ATT p.I1533I OTOF_uc010yla.1_Silent_p.I263I|OTOF_uc002rhh.2_Silent_p.I766I|OTOF_uc002rhi.2_Silent_p.I843I|OTOF_uc002rhj.2_Silent_p.I766I NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 1533 Cytoplasmic (Potential).|C2 4. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTGCTTGGAGATGTAGTTCT 0.582000 CAD 790 broad.mit.edu 37 2 27465519 27465519 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr2:27465519G>A uc002rji.2 + 41 6416 c.6254G>A c.(6253-6255)CGC>CAC p.R2085H CAD_uc010eyw.2_Missense_Mutation_p.R2022H NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 2085 ATCase (Aspartate transcarbamylase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) AAGCACGGACGCACAGTACAT 0.602000 CDC42EP3 10602 broad.mit.edu 37 2 37873541 37873541 + Missense_Mutation SNP C C T rs144011190 by1000genomes TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr2:37873541C>T uc002rqi.1 - 2 1183 c.190G>A c.(190-192)GAG>AAG p.E64K NM_006449 NP_006440 Q9UKI2 BORG2_HUMAN Cdc42 effector protein 3 64 regulation of cell shape|signal transduction actin cytoskeleton|cytoplasm|endomembrane system|membrane cytoskeletal regulatory protein binding 0 all_hematologic(82;0.172) GGTAAAAGCTCGTAGTTCCCT 0.527000 GFPT1 2673 broad.mit.edu 37 2 69555475 69555475 + Silent SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr2:69555475C>T uc002sfh.2 - 17 1946 c.1767G>A c.(1765-1767)GTG>GTA p.V589V NM_002056 NP_002047 Q06210 GFPT1_HUMAN glucosamine-fructose-6-phosphate 607 SIS 2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding skin(1) 1 TGATCATGATCACAGGCATCA 0.438000 GPAT2 150763 broad.mit.edu 37 2 96697824 96697824 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr2:96697824G>A uc002svf.2 - 3 357 c.134C>T c.(133-135)CCC>CTC p.P45L GPAT2_uc002svg.2_5'UTR|GPAT2_uc010yuh.1_Missense_Mutation_p.P45L|GPAT2_uc002svh.2_Missense_Mutation_p.P45L NM_207328 NP_997211 Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, 45 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity 0 ACCCACAAAGGGGCGATACTT 0.602000 EIF5B 9669 broad.mit.edu 37 2 100009484 100009484 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr2:100009484G>A uc002tab.2 + 18 2987 c.2803G>A c.(2803-2805)GGA>AGA p.G935R EIF5B_uc010yvq.1_5'Flank NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 935 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 AAAGATTCTTGGAAAAGACCT 0.343000 LRP1B 53353 broad.mit.edu 37 2 141250255 141250255 + Missense_Mutation SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr2:141250255T>G uc002tvj.1 - 57 10014 c.9042A>C c.(9040-9042)GAA>GAC p.E3014D NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3014 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTAAAAAAGGTTCTTCATCTA 0.338000 TSP Lung(27;0.18) SCN9A 6335 broad.mit.edu 37 2 167141141 167141141 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr2:167141141C>T uc010fpl.2 - 12 2137 c.1796G>A c.(1795-1797)AGC>AAC p.S599N uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.S470N|SCN9A_uc002uds.1_Missense_Mutation_p.S470N|SCN9A_uc002udt.1_Missense_Mutation_p.S470N NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 599 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) GATGTTACTGCTGCGTCGCTC 0.547000 TTN 7273 broad.mit.edu 37 2 179654102 179654102 + Missense_Mutation SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr2:179654102T>G uc010zfg.1 - 13 2285 c.2061A>C c.(2059-2061)CAA>CAC p.Q687H TTN_uc010zfh.1_Missense_Mutation_p.Q641H|TTN_uc010zfi.1_Missense_Mutation_p.Q641H|TTN_uc010zfj.1_Missense_Mutation_p.Q641H|TTN_uc002unb.2_Missense_Mutation_p.Q687H|TTN_uc010frg.1_Missense_Mutation_p.Q269H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 687 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATGGGTAACTTGGATTTGTT 0.353000 CCDC141 285025 broad.mit.edu 37 2 179702352 179702352 + Missense_Mutation SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr2:179702352T>G uc002unf.1 - 13 1926 c.1869A>C c.(1867-1869)GAA>GAC p.E623D CCDC141_uc002une.1_Missense_Mutation_p.E73D NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 623 protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) AGAGCATGTCTTCAGGCAGGA 0.547000 DNAH7 56171 broad.mit.edu 37 2 196673538 196673538 + Silent SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr2:196673538G>A uc002utj.3 - 53 10052 c.9951C>T c.(9949-9951)GCC>GCT p.A3317A NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3317 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TACAAAGGTTGGCATAAGGAT 0.418000 MDH1B 130752 broad.mit.edu 37 2 207620121 207620121 + Silent SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr2:207620121T>C uc002vbs.2 - 5 577 c.522A>G c.(520-522)GAA>GAG p.E174E MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Silent_p.E174E|MDH1B_uc010fuj.2_Silent_p.E76E|MDH1B_uc002vbt.2_Intron NM_001039845 NP_001034934 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 174 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity ovary(3)|kidney(1) 4 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) TGAGATGTTCTTCCGCCTGCT 0.522000 MAP2 4133 broad.mit.edu 37 2 210558112 210558112 + Missense_Mutation SNP A A C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr2:210558112A>C uc002vde.1 + 7 1466 c.1218A>C c.(1216-1218)AAA>AAC p.K406N MAP2_uc002vdc.1_Missense_Mutation_p.K406N|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.K402N NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 406 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TTATGGGGAAAGTTTTAGAGG 0.443000 FARSB 10056 broad.mit.edu 37 2 223488429 223488429 + Silent SNP A A C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr2:223488429A>C uc002vne.1 - 13 1226 c.1191T>G c.(1189-1191)ACT>ACG p.T397T FARSB_uc010zlq.1_Silent_p.T417T|FARSB_uc002vnf.1_Silent_p.T298T NM_005687 NP_005678 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit 397 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding ovary(1) 1 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) GGAGAAGTTCAGTGAGCTTAT 0.393000 SPHKAP 80309 broad.mit.edu 37 2 228881277 228881277 + Silent SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr2:228881277A>G uc002vpq.2 - 7 4340 c.4293T>C c.(4291-4293)ATT>ATC p.I1431I SPHKAP_uc002vpp.2_Silent_p.I1431I|SPHKAP_uc010zlx.1_Silent_p.I1431I NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1431 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GATCTGTTTCAATCTGAATCA 0.458000 ALPI 248 broad.mit.edu 37 2 233322819 233322819 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr2:233322819G>A uc002vst.3 + 8 1045 c.968G>A c.(967-969)CGC>CAC p.R323H ALPI_uc002vsu.3_Missense_Mutation_p.R234H NM_001631 NP_001622 P09923 PPBI_HUMAN intestinal alkaline phosphatase precursor 323 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding central_nervous_system(1) 1 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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) AGGAACCCCCGCGGCTTCTAC 0.657000 PCNA 5111 broad.mit.edu 37 20 5099508 5099508 + Missense_Mutation SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr20:5099508A>G uc002wlp.2 - 2 429 c.226T>C c.(226-228)TCC>CCC p.S76P PCNA_uc002wlq.2_Missense_Mutation_p.S76P|PCNA_uc010zqs.1_Missense_Mutation_p.S76P NM_182649 NP_872590 P12004 PCNA_HUMAN proliferating cell nuclear antigen 76 Potential.|Interaction with NUDT15. cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity lung(1) 1 AGTATTTTGGACATACTAGAA 0.458000 DNA_polymerases_(catalytic_subunits) PAX1 5075 broad.mit.edu 37 20 21687213 21687213 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr20:21687213G>A uc002wsj.2 + 2 478 c.424G>A c.(424-426)GTA>ATA p.V142I PAX1_uc010zsl.1_Missense_Mutation_p.V142I|PAX1_uc010zsm.1_Missense_Mutation_p.V118I NM_006192 NP_006183 P15863 PAX1_HUMAN paired box 1 142 Paired. regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding upper_aerodigestive_tract(1)|kidney(1) 2 GCAGCTCCGCGTATCCCACGG 0.682000 SDC4 6385 broad.mit.edu 37 20 43964515 43964515 + Nonsense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr20:43964515G>A uc002xnu.2 - 2 146 c.106C>T c.(106-108)CGA>TGA p.R36* SDC4_uc010zws.1_Intron NM_002999 NP_002990 P31431 SDC4_HUMAN syndecan 4 precursor 36 Extracellular (Potential). extracellular region|integral to plasma membrane cytoskeletal protein binding|thrombospondin receptor activity 0 Myeloproliferative disorder(115;0.0122) GAGAAGTATCGGCCTTCTAGG 0.552000 LIPI 149998 broad.mit.edu 37 21 15538737 15538737 + Missense_Mutation SNP A A C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr21:15538737A>C uc002yjm.2 - 5 752 c.742T>G c.(742-744)TTT>GTT p.F248V LIPI_uc010gkw.1_Intron NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 227 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TTTGGATAAAAATCTATATGT 0.348000 TMPRSS15 5651 broad.mit.edu 37 21 19725236 19725236 + Silent SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr21:19725236A>G uc002ykw.2 - 10 1186 c.1155T>C c.(1153-1155)ACT>ACC p.T385T NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 385 Extracellular (Potential).|MAM. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 CATTGCCAAAAGTGTGGTCAA 0.358000 C21orf58 54058 broad.mit.edu 37 21 47731399 47731399 + Missense_Mutation SNP G G T rs13049404 byFrequency TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr21:47731399G>T uc002zjf.2 - 7 1826 c.692C>A c.(691-693)CCT>CAT p.P231H C21orf58_uc002ziz.2_Missense_Mutation_p.P148H|C21orf58_uc002zja.2_Missense_Mutation_p.P125H|C21orf58_uc011afw.1_Missense_Mutation_p.P148H|C21orf58_uc002zjc.2_Missense_Mutation_p.P125H|C21orf58_uc011afx.1_Missense_Mutation_p.P125H|C21orf58_uc010gqj.1_RNA NM_058180 NP_478060 P58505 CU058_HUMAN hypothetical protein LOC54058 231 pancreas(1) 1 Breast(49;0.112) Colorectal(79;0.239) CCGTTGAGTAGGGAAGGCCTG 0.498000 YPEL1 29799 broad.mit.edu 37 22 22057704 22057704 + Silent SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr22:22057704G>A uc002zvl.2 - 4 557 c.225C>T c.(223-225)GCC>GCT p.A75A YPEL1_uc002zvm.2_RNA NM_013313 NP_037445 O60688 YPEL1_HUMAN yippee-like 1 75 nucleus 0 Colorectal(54;0.105) AGTAGATGTCGGCAACCGCAT 0.642000 SNRPD3 6634 broad.mit.edu 37 22 24953726 24953726 + Silent SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr22:24953726T>C uc003aam.1 + 2 524 c.84T>C c.(82-84)TAT>TAC p.Y28Y C22orf13_uc003aah.2_5'Flank|C22orf13_uc003aal.2_5'Flank|C22orf13_uc003aai.3_5'Flank|C22orf13_uc003aaj.3_5'Flank|C22orf13_uc003aak.3_5'Flank|SNRPD3_uc011aju.1_Silent_p.Y28Y NM_004175 NP_004166 P62318 SMD3_HUMAN small nuclear ribonucleoprotein polypeptide D3 28 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP enzyme binding|histone pre-mRNA DCP binding ovary(1) 1 GTGAGGTATATCGGGGGAAGC 0.512000 MYH9 4627 broad.mit.edu 37 22 36690198 36690198 + Silent SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr22:36690198G>T uc003apg.2 - 28 4008 c.3777C>A c.(3775-3777)GTC>GTA p.V1259V NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1259 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 CGTTGAACTTGACCTGCAGCT 0.672000 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated CNTN6 27255 broad.mit.edu 37 3 1418726 1418726 + Silent SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr3:1418726A>G uc003boz.2 + 17 2400 c.2133A>G c.(2131-2133)GGA>GGG p.G711G CNTN6_uc011asj.1_Silent_p.G639G|CNTN6_uc003bpa.2_Silent_p.G711G NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 711 Fibronectin type-III 2. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) ATGGAGGTGGAGGAAGTCGGT 0.398000 TRAK1 22906 broad.mit.edu 37 3 42260998 42260998 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr3:42260998G>A uc003cky.2 + 15 2192 c.1976G>A c.(1975-1977)GGG>GAG p.G659E TRAK1_uc011azi.1_Missense_Mutation_p.G638E NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN OGT(O-Glc-NAc transferase)-interacting protein 659 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus ovary(1) 1 CACCATCCTGGGAAGTGCATG 0.473000 SFMBT1 51460 broad.mit.edu 37 3 52968852 52968852 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr3:52968852G>A uc003dgf.2 - 6 999 c.430C>T c.(430-432)CCT>TCT p.P144S SFMBT1_uc010hmr.2_Missense_Mutation_p.P91S|SFMBT1_uc003dgg.2_Missense_Mutation_p.P144S|SFMBT1_uc003dgh.2_Missense_Mutation_p.P144S NM_001005159 NP_001005159 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 144 MBT 2. regulation of transcription, DNA-dependent nucleus ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) GGAACAGGAGGACTACATGCT 0.428000 FILIP1L 11259 broad.mit.edu 37 3 99569565 99569565 + Nonsense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr3:99569565G>A uc003dtm.2 - 5 1418 c.955C>T c.(955-957)CAA>TAA p.Q319* C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Nonsense_Mutation_p.Q319*|FILIP1L_uc010hpf.2_Intron|FILIP1L_uc010hpg.2_Nonsense_Mutation_p.Q79*|FILIP1L_uc003dtn.2_Nonsense_Mutation_p.Q79*|FILIP1L_uc003dtp.1_Nonsense_Mutation_p.Q79* NM_182909 NP_878913 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like isoform 1 319 Potential. cytoplasm|membrane|myosin complex|nucleus ovary(1) 1 TGGCGATTTTGACTGTCCTCA 0.478000 TRIM42 287015 broad.mit.edu 37 3 140397174 140397174 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr3:140397174C>T uc003eto.1 + 1 294 c.103C>T c.(103-105)CGG>TGG p.R35W NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 35 Cys-rich. intracellular zinc ion binding lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 CACCTCAGAGCGGAACTGCAC 0.527000 PIGG 54872 broad.mit.edu 37 4 509771 509771 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr4:509771G>A uc003gak.3 + 6 1047 c.911G>A c.(910-912)CGA>CAA p.R304Q PIGG_uc003gaj.3_Missense_Mutation_p.R304Q|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.R171Q|PIGG_uc003gal.3_Missense_Mutation_p.R215Q|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Missense_Mutation_p.R182Q|PIGG_uc003gam.2_Missense_Mutation_p.R215Q|PIGG_uc003gan.2_Missense_Mutation_p.R215Q NM_001127178 NP_001120650 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, 304 Lumenal (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity central_nervous_system(2)|ovary(1)|skin(1) 4 GGTGATATCCGACATCCAAAG 0.433000 WFS1 7466 broad.mit.edu 37 4 6303278 6303278 + Missense_Mutation SNP G G A rs143084511 byFrequency TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr4:6303278G>A uc003giy.2 + 8 1922 c.1756G>A c.(1756-1758)GCC>ACC p.A586T WFS1_uc003gix.2_Missense_Mutation_p.A586T|WFS1_uc003giz.2_Missense_Mutation_p.A404T NM_001145853 NP_001139325 O76024 WFS1_HUMAN wolframin 586 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2) 2 Colorectal(103;0.0512) GCTGCAGTTCGCCCGGTGGTT 0.667000 SLIT2 9353 broad.mit.edu 37 4 20487885 20487885 + Missense_Mutation SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr4:20487885T>G uc003gpr.1 + 7 806 c.602T>G c.(601-603)CTT>CGT p.L201R SLIT2_uc003gps.1_Missense_Mutation_p.L201R NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 201 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 ATGCCTAAACTTAGGACTTTG 0.323000 LIMCH1 22998 broad.mit.edu 37 4 41648596 41648596 + Missense_Mutation SNP A A C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr4:41648596A>C uc003gvu.3 + 12 1405 c.1351A>C c.(1351-1353)ACC>CCC p.T451P LIMCH1_uc003gvv.3_Missense_Mutation_p.T451P|LIMCH1_uc003gvw.3_Missense_Mutation_p.T451P|LIMCH1_uc003gvx.3_Missense_Mutation_p.T439P|LIMCH1_uc003gwe.3_Missense_Mutation_p.T451P|LIMCH1_uc003gvy.3_Missense_Mutation_p.T280P|LIMCH1_uc003gwa.3_Missense_Mutation_p.T292P|LIMCH1_uc003gvz.3_Missense_Mutation_p.T836P|LIMCH1_uc011byu.1_Missense_Mutation_p.T285P|LIMCH1_uc003gwc.3_Missense_Mutation_p.T297P|LIMCH1_uc003gwd.3_Missense_Mutation_p.T285P|LIMCH1_uc011byv.1_Missense_Mutation_p.T202P NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 isoform a 451 actomyosin structure organization actin binding|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 TGAGAGGTTCACCATCAGTGA 0.488000 BEND4 389206 broad.mit.edu 37 4 42145964 42145964 + Missense_Mutation SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr4:42145964G>T uc003gwn.2 - 3 1115 c.535C>A c.(535-537)CTT>ATT p.L179I BEND4_uc003gwm.2_Missense_Mutation_p.L179I|BEND4_uc011byy.1_Missense_Mutation_p.L179I NM_207406 NP_997289 Q6ZU67 BEND4_HUMAN BEN domain containing 4 isoform a 179 0 AAGAGGCTAAGAACTCGACTG 0.448000 GRXCR1 389207 broad.mit.edu 37 4 42895343 42895343 + Silent SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr4:42895343C>T uc003gwt.2 + 1 60 c.60C>T c.(58-60)ATC>ATT p.I20I NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 20 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity ovary(1) 1 GGTTTCGGATCGCGTCCTCTC 0.507000 UGT2B28 54490 broad.mit.edu 37 4 70146482 70146482 + Missense_Mutation SNP T T A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr4:70146482T>A uc003hej.2 + 1 266 c.264T>A c.(262-264)AAT>AAA p.N88K UGT2B28_uc010ihr.2_Missense_Mutation_p.N88K NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 88 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) AATTTGAGAATATCATCATGC 0.343000 C4orf40 401137 broad.mit.edu 37 4 71020099 71020099 + Missense_Mutation SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr4:71020099C>A uc003hfa.3 + 2 80 c.7C>A c.(7-9)CTT>ATT p.L3I C4orf40_uc003hfb.3_Missense_Mutation_p.L3I NM_214711 NP_999876 Q6MZM9 CD040_HUMAN hypothetical protein LOC401137 precursor 3 extracellular region 0 CAAAATGAAGCTTCTCCTTTG 0.284000 TRPC3 7222 broad.mit.edu 37 4 122853799 122853799 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr4:122853799C>T uc003ieg.2 - 2 688 c.614G>A c.(613-615)CGT>CAT p.R205H TRPC3_uc010inr.2_Missense_Mutation_p.R132H|TRPC3_uc003ief.2_Missense_Mutation_p.R132H|TRPC3_uc011cgl.1_5'UTR NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN transient receptor potential cation channel, 120 Cytoplasmic (Potential). axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 CAGAGTGAGACGCTTGCTGGC 0.647000 EDNRA 1909 broad.mit.edu 37 4 148457038 148457038 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr4:148457038G>A uc003iky.2 + 5 1449 c.757G>A c.(757-759)GAT>AAT p.D253N EDNRA_uc011cid.1_Missense_Mutation_p.D28N|EDNRA_uc010ipf.1_RNA|EDNRA_uc010ipg.1_Missense_Mutation_p.D144N NM_001957 NP_001948 P25101 EDNRA_HUMAN endothelin receptor type A isoform a precursor 253 Extracellular (Potential). activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity ovary(1)|breast(1) 2 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) GTTCTACCAAGATGTAAAGGA 0.418000 DCHS2 54798 broad.mit.edu 37 4 155242139 155242139 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr4:155242139G>A uc003inw.2 - 14 3047 c.3047C>T c.(3046-3048)ACG>ATG p.T1016M NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1016 Cadherin 8. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ATGAGATGTCGTCTCATAATC 0.373000 DNAH5 1767 broad.mit.edu 37 5 13824336 13824336 + Missense_Mutation SNP A A T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr5:13824336A>T uc003jfd.2 - 39 6593 c.6551T>A c.(6550-6552)GTA>GAA p.V2184E NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2184 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GTCCCGTAGTACACGCATGAC 0.448000 Kartagener_syndrome CAPSL 133690 broad.mit.edu 37 5 35910624 35910624 + Silent SNP G G A rs75736388 byFrequency TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr5:35910624G>A uc003jjt.1 - 3 254 c.159C>T c.(157-159)GAC>GAT p.D53D CAPSL_uc003jju.1_Silent_p.D53D NM_001042625 NP_001036090 Q8WWF8 CAPSL_HUMAN calcyphosine-like 53 EF-hand 1.|1 (Potential). cytoplasm calcium ion binding skin(1) 1 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) GATTATTATCGTCATCCATAA 0.313000 NIPBL 25836 broad.mit.edu 37 5 37020626 37020626 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr5:37020626G>A uc003jkl.3 + 26 5575 c.5076G>A c.(5074-5076)ATG>ATA p.M1692I NIPBL_uc003jkk.3_Missense_Mutation_p.M1692I NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 1692 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) AAAAAGCAATGAAATCACAAA 0.368000 C5orf42 65250 broad.mit.edu 37 5 37183749 37183749 + Missense_Mutation SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr5:37183749T>C uc011cpa.1 - 26 4765 c.4534A>G c.(4534-4536)AGG>GGG p.R1512G C5orf42_uc011coy.1_Missense_Mutation_p.R13G|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.R587G|C5orf42_uc011cpb.1_Missense_Mutation_p.R393G NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 1512 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) CACATTTTCCTTTTATCAGTT 0.294000 CMYA5 202333 broad.mit.edu 37 5 79031976 79031976 + Missense_Mutation SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr5:79031976G>T uc003kgc.2 + 2 7460 c.7388G>T c.(7387-7389)AGA>ATA p.R2463I NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2463 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TTGGAAAACAGATCATATACC 0.363000 GPR98 84059 broad.mit.edu 37 5 89949196 89949196 + Missense_Mutation SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr5:89949196T>G uc003kju.2 + 20 3901 c.3805T>G c.(3805-3807)TTC>GTC p.F1269V GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 1269 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TATTACCAACTTCACCATTTT 0.433000 FBN2 2201 broad.mit.edu 37 5 127614390 127614390 + Missense_Mutation SNP G G A rs1801169 TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr5:127614390G>A uc003kuu.2 - 57 7721 c.7282C>T c.(7282-7284)CCT>TCT p.P2428S NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 2428 TB 9. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GCAGTTCCAGGAAGTGGGCAA 0.478000 PCDHA1 56147 broad.mit.edu 37 5 140168138 140168138 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr5:140168138C>T uc003lhb.2 + 1 2263 c.2263C>T c.(2263-2265)CGG>TGG p.R755W PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.R755W NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 755 Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P. 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) ACAGCAGAGGCGGCAGAGGGT 0.617000 PCDHA13 56136 broad.mit.edu 37 5 140263569 140263569 + Silent SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr5:140263569C>T uc003lif.2 + 1 1716 c.1716C>T c.(1714-1716)AGC>AGT p.S572S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.S572S|PCDHA13_uc003lid.2_Silent_p.S572S NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 572 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCTGGCAGCGCGGGAGGCA 0.697000 CYFIP2 26999 broad.mit.edu 37 5 156816394 156816394 + Silent SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr5:156816394C>T uc003lwq.2 + 31 3543 c.3405C>T c.(3403-3405)TTC>TTT p.F1135F CYFIP2_uc011ddn.1_Silent_p.F1109F|CYFIP2_uc011ddo.1_Silent_p.F939F|CYFIP2_uc003lwr.2_Silent_p.F1135F|CYFIP2_uc003lws.2_Silent_p.F1135F|CYFIP2_uc003lwt.2_Silent_p.F1038F|CYFIP2_uc011ddp.1_Silent_p.F869F|CYFIP2_uc003lwv.2_Silent_p.F90F NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 1160 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding 0 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCATGCAGTTCGTGTACTGCA 0.617000 HMMR 3161 broad.mit.edu 37 5 162901197 162901197 + Missense_Mutation SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr5:162901197C>A uc003lzf.2 + 10 1218 c.1036C>A c.(1036-1038)CTG>ATG p.L346M HMMR_uc003lzh.2_Missense_Mutation_p.L347M|HMMR_uc003lzg.2_Missense_Mutation_p.L331M|HMMR_uc011dem.1_Missense_Mutation_p.L260M NM_012484 NP_036616 O75330 HMMR_HUMAN hyaluronan-mediated motility receptor isoform b 346 cell surface|cytoplasm hyaluronic acid binding 0 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) TGATTCACTTCTGCAACAAGA 0.274000 NUP153 9972 broad.mit.edu 37 6 17675564 17675564 + Missense_Mutation SNP G G C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr6:17675564G>C uc003ncd.1 - 4 819 c.619C>G c.(619-621)CTG>GTG p.L207V NUP153_uc011dje.1_Missense_Mutation_p.L207V|NUP153_uc010jpl.1_Missense_Mutation_p.L207V NM_005124 NP_005115 P49790 NU153_HUMAN nucleoporin 153kDa 207 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding lung(4)|ovary(2)|breast(2)|skin(1) 9 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) GGGGACCACAGAGGTGGCAAT 0.393000 TMEM200A 114801 broad.mit.edu 37 6 130761908 130761908 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr6:130761908G>A uc003qca.2 + 3 1212 c.341G>A c.(340-342)CGC>CAC p.R114H TMEM200A_uc010kfh.2_Missense_Mutation_p.R114H|TMEM200A_uc010kfi.2_Missense_Mutation_p.R114H|TMEM200A_uc003qcb.2_Missense_Mutation_p.R114H NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 114 Extracellular (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) GTGGTGGTTCGCTTCTTTGAG 0.408000 GPR141 353345 broad.mit.edu 37 7 37780254 37780254 + Missense_Mutation SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr7:37780254T>G uc003tfm.1 + 1 259 c.259T>G c.(259-261)TTC>GTC p.F87V uc003tfl.2_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN G protein-coupled receptor 141 87 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 TGGGCTGCCCTTCTGCAAATT 0.488000 AMPH 273 broad.mit.edu 37 7 38534094 38534094 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr7:38534094G>A uc003tgu.2 - 4 308 c.239C>T c.(238-240)TCG>TTG p.S80L AMPH_uc003tgv.2_Missense_Mutation_p.S80L NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 80 BAR.|Potential. endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 TTCATGCAGCGACTCTGTGAG 0.532000 ZNF107 51427 broad.mit.edu 37 7 64168394 64168394 + Missense_Mutation SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr7:64168394A>G uc003ttd.2 + 7 2498 c.1712A>G c.(1711-1713)AAG>AGG p.K571R ZNF107_uc003tte.2_Missense_Mutation_p.K571R NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 571 C2H2-type 18; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.00948)|all_lung(88;0.0249) ACTACACAAAAGATAATTCAT 0.323000 CDK14 5218 broad.mit.edu 37 7 90546950 90546950 + Missense_Mutation SNP A A T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr7:90546950A>T uc003uky.2 + 8 959 c.737A>T c.(736-738)TAC>TTC p.Y246F CDK14_uc003ukz.1_Missense_Mutation_p.Y228F|CDK14_uc010les.1_Missense_Mutation_p.Y200F|CDK14_uc011khl.1_Missense_Mutation_p.Y117F NM_012395 NP_036527 O94921 CDK14_HUMAN PFTAIRE protein kinase 1 246 Protein kinase. cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity lung(3)|ovary(1) 4 GGTCTGTCTTACATCCACCAG 0.413000 PON1 5444 broad.mit.edu 37 7 94937461 94937461 + Missense_Mutation SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr7:94937461A>G uc003uns.2 - 6 657 c.560T>C c.(559-561)CTT>CCT p.L187P PON1_uc011kih.1_Missense_Mutation_p.L187P NM_000446 NP_000437 P27169 PON1_HUMAN paraoxonase 1 precursor 187 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity pancreas(1) 1 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) GTAGGGGTCAAGAAAATAGTG 0.388000 DNAJB6 10049 broad.mit.edu 37 7 157177654 157177654 + Missense_Mutation SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr7:157177654T>C uc003wnk.2 + 7 726 c.572T>C c.(571-573)ATA>ACA p.I191T DNAJB6_uc003wnj.2_Missense_Mutation_p.I191T|DNAJB6_uc003wnl.2_Missense_Mutation_p.I178T|DNAJB6_uc011kvy.1_Missense_Mutation_p.I142T|DNAJB6_uc011kvz.1_Intron|DNAJB6_uc010lqt.2_Missense_Mutation_p.I191T NM_058246 NP_490647 O75190 DNJB6_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 6 191 Interaction with KRT18. intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein nucleus|perinuclear region of cytoplasm ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding ovary(2) 2 all_neural(206;0.181) all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196) OV - Ovarian serous cystadenocarcinoma(82;0.00399) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) TTCAAATCGATATCAACTTCA 0.408000 MCPH1 79648 broad.mit.edu 37 8 6312749 6312749 + Missense_Mutation SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr8:6312749G>T uc003wqi.2 + 9 1979 c.1911G>T c.(1909-1911)TTG>TTT p.L637F NM_024596 NP_078872 Q8NEM0 MCPH1_HUMAN microcephalin 637 microtubule organizing center central_nervous_system(1)|skin(1) 2 Hepatocellular(245;0.0663) Colorectal(4;0.0505) ATGAGGAATTGAAGAAAAGTG 0.368000 DLC1 10395 broad.mit.edu 37 8 13357278 13357278 + Silent SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr8:13357278T>C uc003wwm.2 - 2 747 c.303A>G c.(301-303)GAA>GAG p.E101E DLC1_uc003wwn.2_Silent_p.E101E|DLC1_uc011kxy.1_Silent_p.E101E NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 101 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 CTGTGCTGGCTTCCAGAGAAA 0.423000 PSD3 23362 broad.mit.edu 37 8 18729760 18729760 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr8:18729760G>A uc003wza.2 - 3 717 c.614C>T c.(613-615)ACG>ATG p.T205M NM_015310 NP_056125 Q9NYI0 PSD3_HUMAN ADP-ribosylation factor guanine nucleotide 205 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity ovary(3) 3 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) ACTTTCCTCCGTTGTTACTTC 0.438000 UNC5D 137970 broad.mit.edu 37 8 35425650 35425650 + Silent SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr8:35425650T>C uc003xjr.1 + 3 685 c.357T>C c.(355-357)ACT>ACC p.T119T UNC5D_uc003xjs.1_Silent_p.T114T NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 119 Extracellular (Potential).|Ig-like. apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TCAATGTTACTAGGCAACAGG 0.512000 DKK4 27121 broad.mit.edu 37 8 42231770 42231770 + Missense_Mutation SNP C C G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr8:42231770C>G uc003xpb.2 - 4 634 c.523G>C c.(523-525)GTC>CTC p.V175L NM_014420 NP_055235 Q9UBT3 DKK4_HUMAN dickkopf homolog 4 precursor 175 DKK-type Cys-2. multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular region ovary(1) 1 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024) CTGGAGCAGACCTGTCCCTCC 0.502000 PXDNL 137902 broad.mit.edu 37 8 52323896 52323896 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr8:52323896G>A uc003xqu.3 - 16 2077 c.1976C>T c.(1975-1977)GCA>GTA p.A659V PXDNL_uc003xqt.3_5'Flank NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 659 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CCCTGCTCTTGCCATTTCCAC 0.502000 TCEA1 6917 broad.mit.edu 37 8 54891686 54891686 + Missense_Mutation SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr8:54891686T>C uc003xru.2 - 8 1047 c.724A>G c.(724-726)AAA>GAA p.K242E TCEA1_uc003xrv.2_Missense_Mutation_p.K221E|TCEA1_uc011ldw.1_Missense_Mutation_p.K58E|TCEA1_uc010lyg.2_RNA NM_006756 NP_006747 P23193 TCEA1_HUMAN transcription elongation factor A 1 isoform 1 242 TFIIS central. positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction nucleoplasm DNA binding|translation elongation factor activity|zinc ion binding 0 Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699) ATGGCTTCTTTGGTCAAGTTT 0.438000 T PLAG1 salivary adenoma VPS13B 157680 broad.mit.edu 37 8 100729456 100729456 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr8:100729456G>A uc003yiv.2 + 37 6698 c.6587G>A c.(6586-6588)AGT>AAT p.S2196N VPS13B_uc003yiw.2_Missense_Mutation_p.S2171N NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 2196 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CTTAAAACAAGTCTCAAAGAA 0.383000 ZNF34 80778 broad.mit.edu 37 8 145998712 145998712 + Missense_Mutation SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr8:145998712C>A uc003zdy.3 - 6 1724 c.1622G>T c.(1621-1623)CGG>CTG p.R541L ZNF34_uc010mgb.2_Missense_Mutation_p.R438L|ZNF34_uc003zdx.3_Missense_Mutation_p.R520L NM_030580 NP_085057 Q8IZ26 ZNF34_HUMAN zinc finger protein 34 541 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.221) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.0179) GGAACTGTGCCGGAAGGCCTT 0.587000 BNC2 54796 broad.mit.edu 37 9 16436469 16436469 + Missense_Mutation SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr9:16436469T>G uc003zml.2 - 6 1863 c.1723A>C c.(1723-1725)AGT>CGT p.S575R BNC2_uc011lmw.1_Missense_Mutation_p.S480R|BNC2_uc003zmm.2_Missense_Mutation_p.S533R|BNC2_uc003zmq.1_Missense_Mutation_p.S589R|BNC2_uc003zmr.1_Missense_Mutation_p.S612R|BNC2_uc003zmp.1_Missense_Mutation_p.S603R|BNC2_uc010mij.1_Missense_Mutation_p.S497R|BNC2_uc011lmv.1_Missense_Mutation_p.S401R|BNC2_uc003zmo.1_Missense_Mutation_p.S497R|BNC2_uc003zmj.2_Missense_Mutation_p.S340R|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.S340R|BNC2_uc003zmn.1_Missense_Mutation_p.S340R NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 575 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) GTGAGTAAACTTCTATAAAAT 0.517000 SETX 23064 broad.mit.edu 37 9 135202556 135202556 + Missense_Mutation SNP T T A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr9:135202556T>A uc004cbk.2 - 10 4612 c.4429A>T c.(4429-4431)ATG>TTG p.M1477L SETX_uc004cbj.2_Missense_Mutation_p.M1096L|SETX_uc010mzt.2_Missense_Mutation_p.M1096L NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 1477 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) AAAGCTGCCATCTCTATATGA 0.413000 BARHL1 56751 broad.mit.edu 37 9 135462862 135462862 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr9:135462862G>A uc004cbp.1 + 2 805 c.613G>A c.(613-615)GTG>ATG p.V205M NM_020064 NP_064448 Q9BZE3 BARH1_HUMAN BarH-like homeobox 1 205 Homeobox. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05) GTACCTGAGCGTGCAGGACCG 0.667000 TRO 7216 broad.mit.edu 37 X 54956444 54956444 + Missense_Mutation SNP A A T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chrX:54956444A>T uc004dtq.2 + 12 3394 c.3287A>T c.(3286-3288)AAC>ATC p.N1096I TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.N627I|TRO_uc004dtw.2_Missense_Mutation_p.N699I|TRO_uc004dtx.2_Missense_Mutation_p.N479I NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 1096 29.|62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 CCAATCACCAACCCTGGCTTT 0.572000 MSN 4478 broad.mit.edu 37 X 64949468 64949468 + Missense_Mutation SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chrX:64949468A>G uc004dwf.2 + 4 559 c.361A>G c.(361-363)ACC>GCC p.T121A NM_002444 NP_002435 P26038 MOES_HUMAN moesin 121 FERM. leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1) 10 CCCGCCTGAGACCGCTGTGCT 0.512000 T ALK ALCL PCDH11X 27328 broad.mit.edu 37 X 91133636 91133636 + Silent SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chrX:91133636G>A uc004efk.1 + 2 3242 c.2397G>A c.(2395-2397)GAG>GAA p.E799E PCDH11X_uc004efl.1_Silent_p.E799E|PCDH11X_uc004efo.1_Silent_p.E799E|PCDH11X_uc010nmv.1_Silent_p.E799E|PCDH11X_uc004efm.1_Silent_p.E799E|PCDH11X_uc004efn.1_Silent_p.E799E|PCDH11X_uc004efh.1_Silent_p.E799E|PCDH11X_uc004efj.1_Silent_p.E799E NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 799 Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CAAATACTGAGATAGCTGATG 0.443000 ATP11C 286410 broad.mit.edu 37 X 138856961 138856961 + Missense_Mutation SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chrX:138856961T>G uc004faz.2 - 19 2212 c.2113A>C c.(2113-2115)ACA>CCA p.T705P ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.T705P NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a 705 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(5)|large_intestine(3) 8 Acute lymphoblastic leukemia(192;0.000127) ATGGTTTTTGTGGTTAGTTCT 0.413000 PRRG3 79057 broad.mit.edu 37 X 150869097 150869097 + Silent SNP C C G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chrX:150869097C>G uc004few.1 + 4 678 c.288C>G c.(286-288)GCC>GCG p.A96A NM_024082 NP_076987 Q9BZD7 TMG3_HUMAN proline rich Gla (G-carboxyglutamic acid) 3 96 Helical; (Potential). extracellular region|integral to membrane calcium ion binding ovary(3)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TTGTCATCGCCTTGTTCATCA 0.597000 ATP2B3 492 broad.mit.edu 37 X 152813388 152813388 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chrX:152813388G>A uc004fht.1 + 7 1180 c.1054G>A c.(1054-1056)GCA>ACA p.A352T ATP2B3_uc004fhs.1_Missense_Mutation_p.A352T NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 352 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GAAAGCCAACGCACCCAAAAA 0.597000 CDC73 79577 broad.mit.edu 37 1 193107220 193107221 + Frame_Shift_Del DEL AG AG - TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr1:193107220_193107221delAG uc001gtb.2 + 6 672_673 c.429_430delAG c.(427-432)GAAGAGfs p.E143fs NM_024529 NP_078805 Q6P1J9 CDC73_HUMAN parafibromin 143_144 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding parathyroid(46)|ovary(1)|breast(1)|pancreas(1) 49 TCCAGGATGAAGAGTGTGTGCG 0.366 Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome IKBIP 121457 broad.mit.edu 37 12 99007790 99007790 + Frame_Shift_Del DEL T T - TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr12:99007790delT uc001tfv.2 - 3 736 c.626delA c.(625-627)AATfs p.N209fs IKBIP_uc001tfw.2_3'UTR NM_201612 NP_963906 Q70UQ0 IKIP_HUMAN IKK interacting protein isoform 2 209 Potential. induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding 0 TTTTACTGTATTTTTTTCTAC 0.318 ZNF177 7730 broad.mit.edu 37 19 9489708 9489708 + Frame_Shift_Del DEL A A - TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr19:9489708delA uc002mli.2 + 9 767 c.104delA c.(103-105)CAAfs p.Q35fs ZNF177_uc002mlj.2_5'UTR|ZNF177_uc002mlk.2_Frame_Shift_Del_p.Q35fs NM_003451 NP_003442 Q13360 ZN177_HUMAN zinc finger protein 177 35 KRAB. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GACCCTGCTCAAAAAAATCTA 0.413 NOP56 10528 broad.mit.edu 37 20 2638596 2638598 + In_Frame_Del DEL AAG AAG - TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr20:2638596_2638598delAAG uc002wgh.2 + 12 1494_1496 c.1441_1443delAAG c.(1441-1443)AAGdel p.K484del NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_In_Frame_Del_p.K318del|NOP56_uc002wgm.1_3'UTR NM_006392 NP_006383 O00567 NOP56_HUMAN nucleolar protein 5A 484 Lys-rich. rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding ovary(1)|pancreas(1) 2 AAAACCCAAAAAGAAGAAAAAGC 0.443 FLJ43860 389690 broad.mit.edu 37 8 142490526 142490526 + Frame_Shift_Del DEL A A - TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr8:142490526delA uc003ywi.2 - 7 854 c.773delT c.(772-774)TTCfs p.F258fs FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN hypothetical protein LOC389690 258 binding 0 all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CGTGCTCAGGAACGGGACTGA 0.632 GOLGA3 2802 broad.mit.edu 37 12 133357449 133357449 + Frame_Shift_Del DEL G G - TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr12:133357448_133357448AG>A uc001ukz.1 - 17 4077 c.3518_3518CT>T c.(3517-3519)cttfs p.L1173fs GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Frame_Shift_Del_p.L1173fs NM_005895 NP_005886 Q08378 GOGA3_HUMAN Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA. 1173 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GGCCTGGACAAGATGCTTCAT 0.542 ZNF521 25925 broad.mit.edu 37 18 22806953 22806955 + In_Frame_Del DEL TTC TTC - TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr18:22806952_22806954GTTC>G uc002kvk.2 - 3 1175_1177 c.928_930GAAC>C c.(928-930)aac>C p.N310del ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_In_Frame_Del_p.N310del|ZNF521_uc002kvl.2_In_Frame_Del_p.N90del NM_015461 NP_056276 Q96K83 ZN521_HUMAN Homo sapiens zinc finger protein 521 (ZNF521), mRNA. 310 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TGCTGCATGAGTTCTTCTTCTCC 0.547 T PAX5 ALL LILRA1 11024 broad.mit.edu 37 19 55107789 55107790 + Frame_Shift_Ins INS - - C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 g.chr19:55107788_55107789G>GC uc002qgh.1 + 6 1275_1276 c.1093_1094G>GC c.(1093-1095)gccfs p.A365fs LILRA1_uc010yfg.1_Frame_Shift_Ins_p.A363fs|LILRA1_uc010yfh.2_Frame_Shift_Ins_p.A365fs NM_006863 NP_006854 O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA. 365 Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) AGCAGCTGATGCCCCCCTCCGT 0.589