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 NOC2L 26155 broad.mit.edu 37 1 883896 883896 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:883896C>T uc001abz.3 - 13 1590 c.1531G>A c.(1531-1533)GTC>ATC p.V511I NOC2L_uc001aby.3_Missense_Mutation_p.V308I|NOC2L_uc009vjq.2_Missense_Mutation_p.V511I NM_015658 NP_056473 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog 511 nucleolus protein binding ovary(1)|skin(1) 2 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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) TGCAGGTTGACATTGGACAGC 0.632000 LOC649330 649330 broad.mit.edu 37 1 12907401 12907401 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:12907401C>A uc009vno.2 - 1 837 c.742G>T c.(742-744)GTT>TTT p.V248F HNRNPCL1_uc010obf.1_Missense_Mutation_p.A248S NM_001146181 NP_001139653 B7ZW38 B7ZW38_HUMAN heterogeneous nuclear ribonucleoprotein C-like 248 nucleic acid binding|nucleotide binding 0 CCCTCCTCAGCAGAGTCTTCT 0.493000 SPEN 23013 broad.mit.edu 37 1 16261743 16261743 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:16261743C>T uc001axk.1 + 11 9212 c.9008C>T c.(9007-9009)TCG>TTG p.S3003L SPEN_uc010obp.1_Missense_Mutation_p.S2962L NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 3003 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CATGTCCCCTCGGGGCCCAGC 0.607000 UBR4 23352 broad.mit.edu 37 1 19436703 19436703 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:19436703G>A uc001bbi.2 - 81 11996 c.11992C>T c.(11992-11994)CTC>TTC p.L3998F NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3998 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) ACAGCCATGAGGAAAAGGCTG 0.507000 PINK1 65018 broad.mit.edu 37 1 20975025 20975025 + Missense_Mutation SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:20975025A>G uc001bdm.2 + 6 1245 c.1151A>G c.(1150-1152)GAT>GGT p.D384G PINK1_uc001bdn.2_Missense_Mutation_p.D77G NM_032409 NP_115785 Q9BXM7 PINK1_HUMAN PTEN induced putative kinase 1 precursor 384 Protein kinase.|Cytoplasmic (Potential). cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress cytosol|integral to membrane|mitochondrial outer membrane ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding ovary(2)|central_nervous_system(1) 3 all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GTGATCGCAGATTTTGGCTGC 0.607000 ALPL 249 broad.mit.edu 37 1 21904089 21904089 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:21904089C>A uc001bet.2 + 12 1780 c.1523C>A c.(1522-1524)GCA>GAA p.A508E ALPL_uc010odn.1_Missense_Mutation_p.A456E|ALPL_uc010odo.1_Missense_Mutation_p.A453E|ALPL_uc010odp.1_Missense_Mutation_p.A431E|ALPL_uc001beu.3_Missense_Mutation_p.A508E NM_000478 NP_000469 P05186 PPBT_HUMAN tissue-nonspecific alkaline phosphatase 508 response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) AGCCTTGCTGCAGGCCCCCTG 0.682000 EPHA8 2046 broad.mit.edu 37 1 22903206 22903206 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:22903206C>T uc001bfx.1 + 3 781 c.656C>T c.(655-657)ACG>ATG p.T219M EPHA8_uc001bfw.2_Missense_Mutation_p.T219M NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 219 Extracellular (Potential).|Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity p.T219T(1) central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GAGGCAGTGACGGGGGCCGAC 0.637000 MYOM3 127294 broad.mit.edu 37 1 24409198 24409198 + Silent SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:24409198T>C uc001bin.3 - 17 2140 c.1977A>G c.(1975-1977)ACA>ACG p.T659T MYOM3_uc001bim.3_Silent_p.T316T|MYOM3_uc001bio.2_Silent_p.T659T|MYOM3_uc001bip.1_3'UTR NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 659 Fibronectin type-III 3. skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GCCCGGGAACTGTAAACCTGG 0.542000 MYOM3 127294 broad.mit.edu 37 1 24433597 24433597 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:24433597C>T uc001bin.3 - 4 531 c.368G>A c.(367-369)CGC>CAC p.R123H MYOM3_uc001bio.2_Missense_Mutation_p.R123H|MYOM3_uc001bip.1_5'UTR NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 123 Potential. skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) CCGCCTCTGGCGCAGCAGCCG 0.687000 CSMD2 114784 broad.mit.edu 37 1 34052731 34052731 + Silent SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:34052731G>T uc001bxn.1 - 46 6929 c.6900C>A c.(6898-6900)CTC>CTA p.L2300L CSMD2_uc001bxm.1_Silent_p.L2298L NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2300 Sushi 13.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CGGCGTTGGGGAGGATGGTGG 0.502000 BMP8B 656 broad.mit.edu 37 1 40230409 40230409 + Missense_Mutation SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:40230409A>G uc001cdz.1 - 4 1130 c.754T>C c.(754-756)TTC>CTC p.F252L BMP8B_uc001cea.1_Intron NM_001720 NP_001711 P34820 BMP8B_HUMAN bone morphogenetic protein 8B preproprotein 252 cartilage development|cell differentiation|growth|ossification extracellular space cytokine activity|growth factor activity 0 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CTGGCCCTGAAGAAAGTGACC 0.647000 RAVER2 55225 broad.mit.edu 37 1 65247062 65247062 + Splice_Site SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:65247062G>C uc001dbs.1 + 4 865 c.787_splice c.e4-1 p.L263_splice RAVER2_uc001dbt.1_Splice_Site_p.L142_splice|RAVER2_uc010opb.1_Splice_Site_p.L142_splice NM_018211 NP_060681 Q9HCJ3 RAVR2_HUMAN ribonucleoprotein, PTB-binding 2 cytoplasm|nucleus nucleotide binding|RNA binding large_intestine(1) 1 TATTGTATCAGCTTGCACAGG 0.398000 DIRAS3 9077 broad.mit.edu 37 1 68512430 68512430 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:68512430G>C uc001ded.2 - 2 846 c.551C>G c.(550-552)ACC>AGC p.T184S uc001deb.1_Intron|uc001dec.1_Intron NM_004675 NP_004666 O95661 DIRA3_HUMAN DIRAS family, GTP-binding RAS-like 3 184 regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity skin(1) 1 ATTCACATCGGTCTTGGCTGA 0.542000 WLS 79971 broad.mit.edu 37 1 68616029 68616029 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:68616029C>T uc001def.1 - 6 1085 c.814G>A c.(814-816)GCC>ACC p.A272T uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Missense_Mutation_p.A270T|WLS_uc001deg.1_Missense_Mutation_p.A181T|WLS_uc009wbf.1_Missense_Mutation_p.A227T NM_024911 NP_079187 Q5T9L3 WLS_HUMAN G protein-coupled receptor 177 isoform 1 272 Helical; Name=2; (Potential). multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway cytoplasmic vesicle membrane|Golgi membrane|integral to membrane signal transducer activity 0 ATCCCAAGGGCAAAGATGACT 0.448000 DBT 1629 broad.mit.edu 37 1 100684199 100684199 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:100684199G>A uc001dta.2 - 5 571 c.538C>T c.(538-540)CTG>TTG p.L180L DBT_uc010oug.1_5'UTR NM_001918 NP_001909 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase 180 branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding pancreas(1) 1 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) TCCATTGCCAGACGGCGAACT 0.393000 SLC16A1 6566 broad.mit.edu 37 1 113456781 113456781 + Missense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:113456781A>T uc001ecx.2 - 5 2067 c.1235T>A c.(1234-1236)CTC>CAC p.L412H SLC16A1_uc001ecy.2_Missense_Mutation_p.L412H NM_003051 NP_003042 P53985 MOT1_HUMAN solute carrier family 16, member 1 412 Extracellular (Potential). blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1) 1 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) CATGTCATTGAGCCGACCTAA 0.378000 DENND2C 163259 broad.mit.edu 37 1 115130457 115130457 + Nonsense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:115130457C>A uc001efd.1 - 19 3250 c.2548G>T c.(2548-2550)GAA>TAA p.E850* DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Nonsense_Mutation_p.E793* NM_198459 NP_940861 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 850 dDENN. skin(3) 3 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CGGAATGGTTCCCTTTGGAAA 0.488000 NOTCH2 4853 broad.mit.edu 37 1 120480053 120480053 + Missense_Mutation SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:120480053A>C uc001eik.2 - 21 3630 c.3374T>G c.(3373-3375)GTC>GGC p.V1125G NOTCH2_uc001eil.2_Missense_Mutation_p.V1125G NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 1125 EGF-like 29.|Extracellular (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ATTGATGCAGACACCTGAGTG 0.522000 N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome PDE4DIP 9659 broad.mit.edu 37 1 144882804 144882804 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:144882804T>A uc001elw.3 - 24 3506 c.3215A>T c.(3214-3216)GAG>GTG p.E1072V NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.E1138V|PDE4DIP_uc001elv.3_Missense_Mutation_p.E79V NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1072 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) TTCCTCGATCTCCCATCCATC 0.502000 T PDGFRB MPD POGZ 23126 broad.mit.edu 37 1 151378394 151378394 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:151378394G>A uc001eyd.1 - 19 3423 c.3117C>T c.(3115-3117)CGC>CGT p.R1039R POGZ_uc001eye.1_Silent_p.R986R|POGZ_uc010pdb.1_Silent_p.R1030R|POGZ_uc001eyf.1_Silent_p.R995R|POGZ_uc010pdc.1_Silent_p.R977R|POGZ_uc009wmv.1_Silent_p.R944R|POGZ_uc010pdd.1_Silent_p.R530R NM_015100 NP_055915 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 1039 HTH CENPB-type. cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding ovary(3) 3 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GCTGTTGTTCGCGCTGGGTTA 0.522000 TDRD10 126668 broad.mit.edu 37 1 154479756 154479756 + Silent SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:154479756G>C uc009wow.2 + 3 880 c.42G>C c.(40-42)CTG>CTC p.L14L TDRD10_uc001ffd.2_Silent_p.L14L NM_001098475 NP_001091945 Q5VZ19 TDR10_HUMAN tudor domain containing 10 isoform a 14 nucleotide binding|RNA binding ovary(1) 1 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) CTGATAAACTGTTTGGGAAGA 0.502000 IFI16 3428 broad.mit.edu 37 1 158984584 158984584 + Missense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:158984584A>T uc001ftf.1 + 3 721 c.114A>T c.(112-114)AAA>AAT p.K38N IFI16_uc001ftg.2_Missense_Mutation_p.K38N|IFI16_uc010pis.1_Missense_Mutation_p.K38N NM_005531 NP_005522 Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 38 DAPIN.|Lys-rich. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) TTAATTTAAAAATGAGAGAAG 0.318000 RC3H1 149041 broad.mit.edu 37 1 173915728 173915728 + Silent SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:173915728T>C uc001gju.3 - 16 2934 c.2847A>G c.(2845-2847)TCA>TCG p.S949S RC3H1_uc010pms.1_Silent_p.S949S|RC3H1_uc001gjv.2_Silent_p.S949S|RC3H1_uc010pmt.1_Silent_p.S949S NM_172071 NP_742068 Q5TC82 RC3H1_HUMAN roquin 949 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 TGGCCACTTCTGACATAGATA 0.388000 RFWD2 64326 broad.mit.edu 37 1 176118177 176118177 + Nonsense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:176118177C>A uc001gku.1 - 6 1052 c.796G>T c.(796-798)GAA>TAA p.E266* RFWD2_uc001gkv.1_Nonsense_Mutation_p.E262*|RFWD2_uc001gkw.1_Nonsense_Mutation_p.E26*|RFWD2_uc009wwv.2_Nonsense_Mutation_p.E26*|RFWD2_uc001gkt.1_Nonsense_Mutation_p.E125* NM_022457 NP_071902 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2 isoform a 266 Potential. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 TTGAGGAATTCCATAAGAATC 0.269000 FAM5B 57795 broad.mit.edu 37 1 177250236 177250236 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:177250236G>C uc001glf.2 + 8 2236 c.1924G>C c.(1924-1926)GTT>CTT p.V642L FAM5B_uc001glg.2_Missense_Mutation_p.V537L NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 642 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 CTTTGAGACAGTTCATGTTTA 0.483000 CFH 3075 broad.mit.edu 37 1 196659341 196659341 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:196659341G>C uc001gtj.3 + 9 1548 c.1308G>C c.(1306-1308)TGG>TGC p.W436C CFH_uc001gti.3_Missense_Mutation_p.W436C|CFH_uc009wyw.2_Missense_Mutation_p.W411C|CFH_uc009wyx.2_Missense_Mutation_p.W372C NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 436 Sushi 7. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 AGAATGGCTGGTCTCCTACTC 0.438000 NFASC 23114 broad.mit.edu 37 1 204945883 204945883 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:204945883G>C uc001hbj.2 + 16 2119 c.1791G>C c.(1789-1791)GAG>GAC p.E597D NFASC_uc001hbh.2_Missense_Mutation_p.E597D|NFASC_uc010pqz.1_Missense_Mutation_p.E591D|NFASC_uc010pra.1_Missense_Mutation_p.E608D|NFASC_uc001hbi.2_Missense_Mutation_p.E608D|NFASC_uc010prb.1_Missense_Mutation_p.E608D|NFASC_uc010prc.1_Missense_Mutation_p.E164D|NFASC_uc001hbk.1_Missense_Mutation_p.E418D NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 597 Extracellular (Potential).|Ig-like C2-type 6. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CCAGCACCGAGCTAGACCAAG 0.617000 LYPLAL1 127018 broad.mit.edu 37 1 219366473 219366473 + Missense_Mutation SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:219366473T>C uc001hlq.3 + 3 282 c.241T>C c.(241-243)TTT>CTT p.F81L LYPLAL1_uc001hlr.3_Missense_Mutation_p.F65L|LYPLAL1_uc001hls.3_Intron|LYPLAL1_uc001hlt.3_Intron|LYPLAL1_uc009xds.2_Intron NM_138794 NP_620149 Q5VWZ2 LYPL1_HUMAN lysophospholipase-like 1 81 cytoplasm lysophospholipase activity 0 GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116) GTTTGACAGATTTAAAATAAC 0.373000 GUK1 2987 broad.mit.edu 37 1 228333735 228333735 + Missense_Mutation SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:228333735A>G uc001hsh.2 + 4 424 c.121A>G c.(121-123)AGG>GGG p.R41G GUK1_uc001hsi.2_Missense_Mutation_p.R62G|GUK1_uc001hsj.2_5'UTR|GUK1_uc010pvv.1_Missense_Mutation_p.R41G NM_000858 NP_000849 Q16774 KGUA_HUMAN guanylate kinase 1 isoform b 41 Guanylate kinase-like. nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process cytosol ATP binding|guanylate kinase activity 0 Prostate(94;0.0405) AGATACCACGAGGAACCCGAG 0.672000 TAF5L 27097 broad.mit.edu 37 1 229730770 229730770 + Silent SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:229730770C>G uc001htq.2 - 5 1210 c.1044G>C c.(1042-1044)ACG>ACC p.T348T NM_014409 NP_055224 O75529 TAF5L_HUMAN PCAF associated factor 65 beta isoform a 348 WD 2. histone H3 acetylation|transcription from RNA polymerase II promoter STAGA complex|transcription factor TFTC complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1) 1 Breast(184;0.193)|Ovarian(103;0.249) Prostate(94;0.167) CGAGGAACCTCGTGCTGTACA 0.542000 RBM34 23029 broad.mit.edu 37 1 235324532 235324532 + Missense_Mutation SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:235324532C>G uc001hwn.2 - 1 40 c.10G>C c.(10-12)GAA>CAA p.E4Q RBM34_uc001hwo.2_RNA|ARID4B_uc001hwp.2_RNA|RBM34_uc010pxp.1_Missense_Mutation_p.E4Q NM_015014 NP_055829 P42696 RBM34_HUMAN RNA binding motif protein 34 isoform 1 4 nucleolus nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121) CTCATCCCTTCCAAGGCCATT 0.627000 ARID4B 51742 broad.mit.edu 37 1 235377164 235377164 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:235377164C>A uc001hwq.2 - 17 2259 c.1761G>T c.(1759-1761)ATG>ATT p.M587I ARID4B_uc001hwr.2_Intron|ARID4B_uc001hws.3_Intron|ARID4B_uc001hwt.3_Missense_Mutation_p.M268I NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 587 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) TAGCTTCATACATTTTTTGAT 0.398000 LYST 1130 broad.mit.edu 37 1 235866229 235866229 + Nonsense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:235866229G>A uc001hxj.2 - 45 10367 c.10192C>T c.(10192-10194)CGA>TGA p.R3398* LYST_uc001hxi.2_Nonsense_Mutation_p.R622* NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 3398 BEACH. defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TCTAGCGCTCGTCTCTGAACT 0.453000 Chediak-Higashi_syndrome CEP170 9859 broad.mit.edu 37 1 243289777 243289777 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:243289777C>T uc001hzs.2 - 20 5137 c.4729G>A c.(4729-4731)GAG>AAG p.E1577K CEP170_uc001hzt.2_Missense_Mutation_p.E1453K|CEP170_uc001hzu.2_Missense_Mutation_p.E1479K|CEP170_uc001hzr.2_Missense_Mutation_p.E166K|CEP170_uc001hzv.1_Intron NM_014812 NP_055627 Q5SW79 CE170_HUMAN centrosomal protein 170kDa isoform alpha 1577 Targeting to microtubules.|Targeting to centrosomes. centriole|microtubule|spindle ovary(1)|haematopoietic_and_lymphoid_tissue(1) 2 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) ACATCTTCCTCTTCCCCATCG 0.403000 ALOX5 240 broad.mit.edu 37 10 45938620 45938620 + Silent SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr10:45938620C>T uc001jce.2 + 10 1506 c.1407C>T c.(1405-1407)TAC>TAT p.Y469Y ALOX5_uc009xmt.2_Silent_p.Y437Y|ALOX5_uc010qfg.1_Silent_p.Y469Y NM_000698 NP_000689 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 469 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding ovary(1)|pancreas(1) 2 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) TCCCCTACTACTTCTACCGGG 0.652000 SLC16A9 220963 broad.mit.edu 37 10 61432609 61432609 + Missense_Mutation SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr10:61432609A>C uc010qig.1 - 3 708 c.259T>G c.(259-261)TTC>GTC p.F87V NM_194298 NP_919274 Q7RTY1 MOT9_HUMAN solute carrier family 16 (monocarboxylic acid 87 Helical; (Potential). urate metabolic process integral to membrane|plasma membrane symporter activity skin(2)|ovary(1) 3 GCCACCATGAAGCCACTGAAG 0.418000 RHOBTB1 9886 broad.mit.edu 37 10 62631340 62631340 + Missense_Mutation SNP T T G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr10:62631340T>G uc001jli.2 - 12 2429 c.1991A>C c.(1990-1992)CAG>CCG p.Q664P RHOBTB1_uc001jlh.2_Missense_Mutation_p.Q664P|RHOBTB1_uc001jlj.2_Missense_Mutation_p.Q664P|RHOBTB1_uc001jlk.2_Missense_Mutation_p.Q664P|RHOBTB1_uc009xpe.1_Missense_Mutation_p.Q602P|RHOBTB1_uc009xpd.2_3'UTR|RHOBTB1_uc001jll.2_Missense_Mutation_p.Q414P NM_014836 NP_055651 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 664 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding upper_aerodigestive_tract(1) 1 Prostate(12;0.0112) TTTCACACGCTGGTAGTGATC 0.502000 CUTC 51076 broad.mit.edu 37 10 101502973 101502973 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr10:101502973G>A uc001kqd.3 + 4 405 c.257G>A c.(256-258)GGA>GAA p.G86E CUTC_uc010qpk.1_Missense_Mutation_p.G86E|CUTC_uc001kqe.3_RNA NM_015960 NP_057044 Q9NTM9 CUTC_HUMAN cutC copper transporter homolog 86 copper ion homeostasis|copper ion transport|protein tetramerization cytoplasm|nucleus copper ion binding breast(1) 1 Colorectal(252;0.234) Epithelial(162;3e-10)|all cancers(201;2.37e-08) CGGCCACGGGGAGGTGATTTT 0.418000 NEURL 9148 broad.mit.edu 37 10 105349314 105349314 + Nonsense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr10:105349314C>A uc001kxh.2 + 5 1793 c.1383C>A c.(1381-1383)TGC>TGA p.C461* SH3PXD2A_uc010qqr.1_Intron NM_004210 NP_004201 O76050 NEU1A_HUMAN neuralized-like 461 nervous system development perinuclear region of cytoplasm zinc ion binding 0 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) CACTCCCCTGCTCCCCTGCCT 0.662000 HSPA12A 259217 broad.mit.edu 37 10 118434408 118434408 + Missense_Mutation SNP C C T rs41284376 TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr10:118434408C>T uc001lct.2 - 12 2017 c.1912G>A c.(1912-1914)GCC>ACC p.A638T HSPA12A_uc001lcu.2_Missense_Mutation_p.A555T NM_025015 NP_079291 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 638 ATP binding ovary(1) 1 all cancers(201;0.0158) TCCCTCCGGGCGGGCACCGCA 0.577000 PDZD8 118987 broad.mit.edu 37 10 119043502 119043502 + Missense_Mutation SNP T T G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr10:119043502T>G uc001lde.1 - 5 2941 c.2742A>C c.(2740-2742)TTA>TTC p.L914F NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 914 intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) GAGGCAGGCCTAAGAGGGTTT 0.418000 TACC2 10579 broad.mit.edu 37 10 123845760 123845760 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr10:123845760G>A uc001lfv.2 + 4 4105 c.3745G>A c.(3745-3747)GAA>AAA p.E1249K TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.E1249K|TACC2_uc010qtv.1_Missense_Mutation_p.E1249K NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 1249 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GAGAGGAGCAGAAGACAGTGG 0.597000 PAMR1 25891 broad.mit.edu 37 11 35492330 35492330 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr11:35492330G>A uc001mwg.2 - 5 574 c.531C>T c.(529-531)TGC>TGT p.C177C PAMR1_uc001mwf.2_Silent_p.C177C|PAMR1_uc010rew.1_Intron|PAMR1_uc010rex.1_Silent_p.C137C NM_001001991 NP_001001991 Q6UXH9 PAMR1_HUMAN regeneration associated muscle protease isoform 177 CUB. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 AGTCATACTGGCACATGTAGT 0.562000 CRY2 1408 broad.mit.edu 37 11 45891339 45891339 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr11:45891339C>T uc010rgn.1 + 7 1250 c.1228C>T c.(1228-1230)CTC>TTC p.L410F CRY2_uc009ykw.2_Missense_Mutation_p.L328F|CRY2_uc010rgo.1_Missense_Mutation_p.L132F NM_021117 NP_066940 Q49AN0 CRY2_HUMAN cryptochrome 2 (photolyase-like) isoform 1 389 FAD-binding. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding central_nervous_system(1) 1 CCGCGGGGACCTCTGGGTCAG 0.647000 MAPK8IP1 9479 broad.mit.edu 37 11 45926588 45926588 + Missense_Mutation SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr11:45926588A>C uc001nbr.2 + 10 2130 c.1960A>C c.(1960-1962)AAC>CAC p.N654H NM_005456 NP_005447 Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting 654 PID. vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity ovary(2)|breast(1)|skin(1) 4 GBM - Glioblastoma multiforme(35;0.231) TCCAAAGAACAACAAGTAAGT 0.542000 KIAA0652 9776 broad.mit.edu 37 11 46671862 46671862 + Missense_Mutation SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr11:46671862A>C uc009yld.2 + 7 1137 c.453A>C c.(451-453)TTA>TTC p.L151F KIAA0652_uc001nda.2_Missense_Mutation_p.L151F|KIAA0652_uc001ndb.2_Missense_Mutation_p.L151F|KIAA0652_uc001ncz.2_Missense_Mutation_p.L151F|KIAA0652_uc001ndc.2_Missense_Mutation_p.L151F|KIAA0652_uc010rgv.1_Missense_Mutation_p.L72F NM_001142673 NP_001136145 O75143 ATG13_HUMAN autophagy-related protein 13 isoform 1 151 autophagic vacuole assembly cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding 0 GBM - Glioblastoma multiforme(35;0.226) ATGTCATATTATACAGGTAAA 0.423000 OR5M8 219484 broad.mit.edu 37 11 56257957 56257957 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr11:56257957T>A uc001nix.1 - 1 890 c.890A>T c.(889-891)AAA>ATA p.K297I NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 297 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) TAATGCTTCTTTTACATTTTT 0.308000 ZDHHC5 25921 broad.mit.edu 37 11 57457633 57457633 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr11:57457633T>A uc001nkx.1 + 5 1771 c.515T>A c.(514-516)CTC>CAC p.L172H ZDHHC5_uc001nky.1_Missense_Mutation_p.L119H|ZDHHC5_uc001nkz.1_5'UTR NM_015457 NP_056272 Q9C0B5 ZDHC5_HUMAN zinc finger, DHHC domain containing 5 172 integral to membrane acyltransferase activity|zinc ion binding skin(1) 1 CTTTATGTCCTCTACCACATA 0.498000 OR5A1 219982 broad.mit.edu 37 11 59210971 59210971 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr11:59210971G>A uc001nnx.1 + 1 330 c.330G>A c.(328-330)ATG>ATA p.M110I NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, 110 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 TTGTCGGCATGGGTCTGTCTG 0.527000 SLC22A9 114571 broad.mit.edu 37 11 63141464 63141464 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr11:63141464G>C uc001nww.2 + 4 1028 c.760G>C c.(760-762)GCC>CCC p.A254P SLC22A9_uc001nwx.2_RNA NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion/cation 254 Helical; (Potential). transmembrane transport integral to membrane breast(2)|large_intestine(1) 3 CCTGGCTTTTGCCATTCGAGA 0.468000 SUV420H1 51111 broad.mit.edu 37 11 67947642 67947642 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr11:67947642G>T uc001onm.1 - 4 590 c.334C>A c.(334-336)CAT>AAT p.H112N SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_5'UTR|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Missense_Mutation_p.H112N|SUV420H1_uc001onp.2_Missense_Mutation_p.H112N|SUV420H1_uc010rqa.1_Intron|SUV420H1_uc001onq.2_Missense_Mutation_p.H112N NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 tttgaaaaatgccttgagctc 0.134000 CPT1A 1374 broad.mit.edu 37 11 68582853 68582853 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr11:68582853T>A uc001oog.3 - 2 260 c.90A>T c.(88-90)CAA>CAT p.Q30H CPT1A_uc001oof.3_Missense_Mutation_p.Q30H|CPT1A_uc009ysj.2_Missense_Mutation_p.Q30H NM_001876 NP_001867 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A liver isoform 30 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity skin(2) 2 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) AGAGATAGATTTGTCTAAGAG 0.438000 WNT11 7481 broad.mit.edu 37 11 75898212 75898212 + Missense_Mutation SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr11:75898212T>C uc001oxe.2 - 5 1085 c.962A>G c.(961-963)TAC>TGC p.Y321C NM_004626 NP_004617 O96014 WNT11_HUMAN wingless-type MMTV integration site family, 321 adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding lung(1)|skin(1) 2 GCGGTCTGTGTAGGGGTTGTA 0.602000 CWF19L2 143884 broad.mit.edu 37 11 107197652 107197652 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr11:107197652T>A uc010rvp.1 - 18 2699 c.2669A>T c.(2668-2670)AAA>ATA p.K890I CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA NM_152434 NP_689647 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control 890 catalytic activity 0 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) GTTTTTACTTTTGGTGAAGTC 0.403000 BTG4 54766 broad.mit.edu 37 11 111366030 111366030 + Missense_Mutation SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr11:111366030A>C uc001plj.2 - 5 705 c.520T>G c.(520-522)TTG>GTG p.L174V NM_017589 NP_060059 Q9NY30 BTG4_HUMAN B-cell translocation gene 4 174 cell cycle arrest|negative regulation of cell proliferation|neuron differentiation 0 all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509) GGCTGTTTCAAGTTTTCAACC 0.413000 FDXACB1 91893 broad.mit.edu 37 11 111749799 111749799 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr11:111749799G>A uc001pmc.3 - 1 355 c.58C>T c.(58-60)CTG>TTG p.L20L ALG9_uc010rwo.1_5'UTR|FDXACB1_uc009yyi.2_5'UTR|C11orf1_uc001pmd.2_5'Flank|C11orf1_uc001pme.2_5'Flank NM_138378 NP_612387 Q9BRP7 FDXA1_HUMAN ferredoxin-fold anticodon binding domain 20 phenylalanyl-tRNA aminoacylation|tRNA processing ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding 0 GTTTCGCTCAGAGCGGCGGCG 0.657000 OREG0021330 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) APOA5 116519 broad.mit.edu 37 11 116661139 116661139 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr11:116661139C>A uc001ppr.2 - 3 814 c.806G>T c.(805-807)GGG>GTG p.G269V ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.G269V|APOA5_uc009yzf.2_Missense_Mutation_p.G269V|APOA5_uc009yzg.2_Missense_Mutation_p.G295V NM_052968 NP_443200 Q6Q788 APOA5_HUMAN apolipoprotein AV precursor 269 acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding 0 all_hematologic(175;0.0487) all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149) CGGGCCGGCCCCTTCCTCAGT 0.657000 DSCAML1 57453 broad.mit.edu 37 11 117299141 117299141 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr11:117299141C>T uc001prh.1 - 33 6247 c.6245G>A c.(6244-6246)GGC>GAC p.G2082D NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 2022 Cytoplasmic (Potential). axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GTCCCTGGAGCCCCCCATTTT 0.701000 TECTA 7007 broad.mit.edu 37 11 120998579 120998579 + Silent SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr11:120998579C>T uc010rzo.1 + 8 1893 c.1893C>T c.(1891-1893)TGC>TGT p.C631C NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 631 TIL 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CAGAGGGCTGCGAGTGCAACC 0.647000 BSX 390259 broad.mit.edu 37 11 122848402 122848402 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr11:122848402G>A uc010rzs.1 - 3 657 c.657C>T c.(655-657)GAC>GAT p.D219D NM_001098169 NP_001091639 Q3C1V8 BSH_HUMAN brain specific homeobox 219 0 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) CGTCTCCAATGTCCACCTCGT 0.736000 OR6M1 390261 broad.mit.edu 37 11 123676812 123676812 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr11:123676812G>A uc010rzz.1 - 1 246 c.246C>T c.(244-246)TGC>TGT p.C82C NM_001005325 NP_001005325 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, 82 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) CTCCTAGGAGGCAGGCCAACA 0.433000 ACRV1 56 broad.mit.edu 37 11 125547724 125547724 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr11:125547724G>A uc001qcs.2 - 2 788 c.521C>T c.(520-522)GCT>GTT p.A174V ACRV1_uc001qck.2_Intron|ACRV1_uc001qcl.2_Missense_Mutation_p.A104V|ACRV1_uc001qcm.2_Intron|ACRV1_uc001qcn.2_Missense_Mutation_p.A119V|ACRV1_uc001qco.2_Missense_Mutation_p.A79V|ACRV1_uc001qcp.2_Intron|ACRV1_uc001qcq.2_Missense_Mutation_p.A104V|ACRV1_uc001qcr.2_Intron NM_001612 NP_001603 P26436 ASPX_HUMAN acrosomal vesicle protein 1 isoform a precursor 174 3-9.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA]. multicellular organismal development acrosomal vesicle 0 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713) TGCACCTGAAGCCTGTTCCCC 0.532000 IQSEC3 440073 broad.mit.edu 37 12 280291 280291 + Silent SNP C C G rs151163146 byFrequency TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr12:280291C>G uc001qhw.1 + 10 2175 c.2169C>G c.(2167-2169)GCC>GCG p.A723A IQSEC3_uc001qhu.1_Silent_p.A723A NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 1026 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) AAAGGGAAGCCGCGCTCAGGG 0.622000 CACNA1C 775 broad.mit.edu 37 12 2795345 2795345 + Silent SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr12:2795345C>T uc009zdu.1 + 48 6256 c.5943C>T c.(5941-5943)TCC>TCT p.S1981S CACNA1C_uc009zdv.1_Silent_p.S1895S|CACNA1C_uc001qkb.2_Silent_p.S1898S|CACNA1C_uc001qkc.2_Silent_p.S1917S|CACNA1C_uc001qke.2_Silent_p.S1887S|CACNA1C_uc001qkf.2_Silent_p.S1906S|CACNA1C_uc001qjz.2_Silent_p.S1898S|CACNA1C_uc001qkd.2_Silent_p.S1917S|CACNA1C_uc001qkg.2_Silent_p.S1904S|CACNA1C_uc009zdw.1_Silent_p.S1939S|CACNA1C_uc001qkh.2_Silent_p.S1906S|CACNA1C_uc001qkl.2_Silent_p.S1946S|CACNA1C_uc001qkn.2_Silent_p.S1898S|CACNA1C_uc001qko.2_Silent_p.S1918S|CACNA1C_uc001qkp.2_Silent_p.S1898S|CACNA1C_uc001qkr.2_Silent_p.S1915S|CACNA1C_uc001qku.2_Silent_p.S1933S|CACNA1C_uc001qkq.2_Silent_p.S1926S|CACNA1C_uc001qks.2_Silent_p.S1898S|CACNA1C_uc001qkt.2_Silent_p.S1917S|CACNA1C_uc001qki.1_Silent_p.S1705S|CACNA1C_uc001qkj.1_Silent_p.S1669S|CACNA1C_uc001qkk.1_Silent_p.S1634S|CACNA1C_uc001qkm.1_Silent_p.S1694S|CACNA1C_uc010sea.1_Silent_p.S589S|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Silent_p.S216S NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1981 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GAAGGGCCTCCTTCCACCTGG 0.577000 ZNF705A 440077 broad.mit.edu 37 12 8329733 8329733 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr12:8329733C>A uc001qud.1 + 5 529 c.457C>A c.(457-459)CTT>ATT p.L153I NM_001004328 NP_001004328 Q6ZN79 Z705A_HUMAN zinc finger protein 705A 153 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Kidney(36;0.0877) TGGAAAATCTCTTCGTAATCT 0.368000 IPO8 10526 broad.mit.edu 37 12 30834694 30834694 + Nonsense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr12:30834694C>T uc001rjd.2 - 4 551 c.381G>A c.(379-381)TGG>TGA p.W127* NM_006390 NP_006381 O15397 IPO8_HUMAN importin 8 127 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding skin(2)|central_nervous_system(1) 3 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) CCACTCCTGGCCAGTGACCAG 0.403000 DDX23 9416 broad.mit.edu 37 12 49226289 49226289 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr12:49226289G>C uc001rsm.2 - 14 1962 c.1871C>G c.(1870-1872)CCT>CGT p.P624R NM_004818 NP_004809 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 624 Helicase ATP-binding. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding kidney(3)|ovary(1)|lung(1)|skin(1) 6 CACCACAGCAGGTCGCCGAAG 0.587000 KRT73 319101 broad.mit.edu 37 12 53007514 53007514 + Silent SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr12:53007514G>C uc001sas.2 - 5 977 c.942C>G c.(940-942)GCC>GCG p.A314A NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 314 Rod.|Coil 2. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) TGCTCTTCCGGGCGATCTCCT 0.587000 TPH2 121278 broad.mit.edu 37 12 72425323 72425323 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr12:72425323C>T uc009zrw.1 + 11 1462 c.1321C>T c.(1321-1323)CGT>TGT p.R441C TPH2_uc001swy.2_Missense_Mutation_p.R351C NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 441 R -> H (may be due to a rare RNA editing event; functional polymorphism linked with susceptibility to major depressive disorder; 80% loss of function; decreases solubility; decreases thermal stability; reduces catalytic activity). aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity ovary(2)|central_nervous_system(1)|skin(1) 4 L-Tryptophan(DB00150) GTCAATTACCCGTCCCTTCTC 0.418000 KCNC2 3747 broad.mit.edu 37 12 75444690 75444690 + Missense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr12:75444690A>T uc001sxg.1 - 3 1639 c.1095T>A c.(1093-1095)TTT>TTA p.F365L KCNC2_uc009zry.2_Missense_Mutation_p.F365L|KCNC2_uc001sxe.2_Missense_Mutation_p.F365L|KCNC2_uc001sxf.2_Missense_Mutation_p.F365L|KCNC2_uc010stw.1_Missense_Mutation_p.F365L NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 365 Helical; Voltage-sensor; Name=Segment S4; (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(2)|pancreas(2)|skin(1)|lung(1) 6 TCAGACCTACAAAATGGCGGG 0.448000 ACSS3 79611 broad.mit.edu 37 12 81647273 81647273 + Splice_Site SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr12:81647273G>C uc001szl.1 + 15 1911 c.1820_splice c.e15-1 p.D607_splice ACSS3_uc001szm.1_Splice_Site_p.D606_splice|ACSS3_uc001szn.1_Splice_Site_p.D289_splice NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 TTTCTCTCTAGATATAAATGC 0.388000 ATXN2 6311 broad.mit.edu 37 12 111990188 111990188 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr12:111990188C>T uc001tsj.2 - 5 1109 c.947G>A c.(946-948)AGT>AAT p.S316N ATXN2_uc001tsh.2_Missense_Mutation_p.S51N|ATXN2_uc001tsi.2_Missense_Mutation_p.S27N|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Missense_Mutation_p.S51N NM_002973 NP_002964 Q99700 ATX2_HUMAN ataxin 2 316 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding ovary(1)|breast(1) 2 CGGCCCCGAACTGGATTCTGT 0.348000 DIAPH3 81624 broad.mit.edu 37 13 60545039 60545039 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr13:60545039G>C uc001vht.2 - 16 2125 c.1906C>G c.(1906-1908)CCA>GCA p.P636A DIAPH3_uc001vhu.2_Missense_Mutation_p.P373A|DIAPH3_uc001vhv.2_Missense_Mutation_p.P214A NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 636 FH2.|Pro-rich. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) TCTTTCTTTGGTTTCAACCCA 0.403000 SLITRK6 84189 broad.mit.edu 37 13 86370114 86370114 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr13:86370114G>A uc001vll.1 - 2 989 c.530C>T c.(529-531)CCA>CTA p.P177L SLITRK6_uc010afe.1_5'Flank NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 177 LRR 4.|Extracellular (Potential). integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) GAAGATGTTTGGAGGAAGACT 0.363000 NALCN 259232 broad.mit.edu 37 13 101720273 101720273 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr13:101720273T>A uc001vox.1 - 39 4632 c.4443A>T c.(4441-4443)AGA>AGT p.R1481S NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1481 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CCCATACCTCTCTTTTATCAT 0.388000 TNFSF13B 10673 broad.mit.edu 37 13 108922355 108922355 + Missense_Mutation SNP T T G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr13:108922355T>G uc001vqr.2 + 1 379 c.112T>G c.(112-114)TCT>GCT p.S38A TNFSF13B_uc010agj.2_Missense_Mutation_p.S38A NM_006573 NP_006564 Q9Y275 TN13B_HUMAN tumor necrosis factor superfamily, member 13b 38 Cytoplasmic (Potential). cell proliferation|immune response|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity|tumor necrosis factor receptor binding 0 all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104) all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19) GGAAAGCCCCTCTGTCCGATC 0.537000 MCF2L 23263 broad.mit.edu 37 13 113733042 113733042 + Silent SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr13:113733042C>T uc001vsu.2 + 15 1990 c.1968C>T c.(1966-1968)GCC>GCT p.A656A MCF2L_uc001vsq.2_Silent_p.A656A|MCF2L_uc010tjr.1_Silent_p.A599A|MCF2L_uc001vsr.2_Silent_p.A603A|MCF2L_uc001vss.3_Silent_p.A597A|MCF2L_uc010tjs.1_Silent_p.A597A|MCF2L_uc001vst.1_Silent_p.A561A NM_001112732 NP_001106203 O15068 MCF2L_HUMAN MCF.2 cell line derived transforming 629 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(1)|kidney(1) 2 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) AAAGCCTGGCCATCCTGCGCA 0.657000 PCID2 55795 broad.mit.edu 37 13 113834471 113834471 + Splice_Site SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr13:113834471C>A uc010tju.1 - 11 941 c.860_splice c.e11+1 p.S287_splice PCID2_uc001vtb.2_Splice_Site_p.S120_splice|PCID2_uc010tjv.1_Splice_Site_p.S287_splice|PCID2_uc010tjw.1_Splice_Site_p.S287_splice|PCID2_uc001vte.2_Splice_Site_p.S180_splice|PCID2_uc001vtd.2_Splice_Site_p.S180_splice|PCID2_uc001vtf.2_Splice_Site_p.S180_splice NM_001127203 NP_001120675 Q5JVF3 PCID2_HUMAN PCI domain containing 2 negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development protein binding 0 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.216)|all_epithelial(44;0.234) all cancers(43;0.104) GCATACTCTACCTCACAGCTC 0.483000 GZMB 3002 broad.mit.edu 37 14 25101228 25101228 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr14:25101228C>T uc001wps.2 - 4 502 c.436G>A c.(436-438)GGC>AGC p.G146S GZMB_uc010ama.2_Missense_Mutation_p.G134S|GZMB_uc010amb.2_RNA NM_004131 NP_004122 P10144 GRAB_HUMAN granzyme B precursor 146 Peptidase S1. activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals cytosol|immunological synapse|nucleus protein binding|serine-type endopeptidase activity 0 GBM - Glioblastoma multiforme(265;0.028) TGCCCCCAGCCGGCCACACTG 0.592000 FOXG1 2290 broad.mit.edu 37 14 29237432 29237432 + Missense_Mutation SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr14:29237432T>C uc001wqe.2 + 1 1146 c.947T>C c.(946-948)CTG>CCG p.L316P NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 316 RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038). axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) TTCCTGTCCCTGCACCACCCC 0.662000 NPAS3 64067 broad.mit.edu 37 14 34269574 34269574 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr14:34269574C>A uc001wru.2 + 12 2125 c.2061C>A c.(2059-2061)AGC>AGA p.S687R NPAS3_uc001wrs.2_Missense_Mutation_p.S674R|NPAS3_uc001wrt.2_Missense_Mutation_p.S655R|NPAS3_uc001wrv.2_Missense_Mutation_p.S657R NM_173159 NP_071406 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 isoform 3 687 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1)|skin(1) 2 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) AGCCCCCCAGCTCTGAGCACT 0.617000 SIP1 8487 broad.mit.edu 37 14 39583510 39583510 + Missense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr14:39583510A>T uc001wuq.2 + 1 23 c.1A>T c.(1-3)ATG>TTG p.M1L SIP1_uc001wur.2_Missense_Mutation_p.M1L|SIP1_uc001wus.2_Missense_Mutation_p.M1L|SIP1_uc010amx.2_RNA NM_003616 NP_003607 O14893 GEMI2_HUMAN SMN-interacting protein 1 isoform alpha 1 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly Cajal body|cytosol|spliceosomal complex protein binding 0 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0121) GAATGGGCGCATGCGCCGAGC 0.567000 RTN1 6252 broad.mit.edu 37 14 60213055 60213055 + Missense_Mutation SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr14:60213055T>C uc001xen.1 - 2 595 c.386A>G c.(385-387)AAG>AGG p.K129R NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 129 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) GCCATTTTCCTTCTGAAGAAT 0.478000 ACYP1 97 broad.mit.edu 37 14 75520211 75520211 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr14:75520211G>A uc001xrg.2 - 3 324 c.236C>T c.(235-237)GCA>GTA p.A79V MLH3_uc001xrd.1_5'Flank|MLH3_uc001xre.1_5'Flank|ACYP1_uc001xrf.2_3'UTR NM_001107 NP_001098 P07311 ACYP1_HUMAN acylphosphatase 1 isoform a 79 Acylphosphatase-like. phosphate metabolic process acylphosphatase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00646) GTTGAAGTTTGCTTTGTCGAT 0.393000 CCDC88C 440193 broad.mit.edu 37 14 91791123 91791123 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr14:91791123C>A uc010aty.2 - 12 1441 c.1342G>T c.(1342-1344)GCC>TCC p.A448S NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN DVL-binding protein DAPLE 448 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association ovary(3) 3 all_cancers(154;0.0468) CGCTACCTACCGTCTGACAAG 0.607000 ATG2B 55102 broad.mit.edu 37 14 96798640 96798640 + Splice_Site SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr14:96798640A>T uc001yfi.2 - 10 1833 c.1468_splice c.e10+1 p.S490_splice NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) ATTTTTACTTACATGTCTTCT 0.378000 TRMT61A 115708 broad.mit.edu 37 14 103996627 103996627 + Silent SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr14:103996627C>A uc001yng.2 + 2 431 c.312C>A c.(310-312)GGC>GGA p.G104G TRMT61A_uc010aws.2_Intron NM_152307 NP_689520 Q96FX7 TRM61_HUMAN tRNA(m1A58)-methyltransferase subunit TRM61 104 nucleus protein binding|tRNA (adenine-N1-)-methyltransferase activity 0 TTCGGCCCGGCTCTGTGGTCT 0.592000 C14orf80 283643 broad.mit.edu 37 14 105960171 105960171 + Splice_Site SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr14:105960171G>C uc001yrm.2 + 5 713 c.586_splice c.e5-1 p.I196_splice C14orf80_uc001yrj.2_Intron|C14orf80_uc001yrk.2_Intron|C14orf80_uc001yrn.2_Splice_Site_p.I196_splice|C14orf80_uc001yro.2_Intron|C14orf80_uc010tys.1_Splice_Site_p.I18_splice NM_001134875 NP_001128347 Q86SX3 CN080_HUMAN hypothetical protein LOC283643 isoform 1 0 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188) Epithelial(152;0.239) ACCTGTTTTAGATCCACCTGT 0.607000 OR4N4 283694 broad.mit.edu 37 15 22382673 22382673 + Silent SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr15:22382673C>A uc001yuc.1 + 7 1182 c.201C>A c.(199-201)GCC>GCA p.A67A LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Silent_p.A67A NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 67 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GCAACTTGGCCTTCCTGGATG 0.483000 EXD1 161829 broad.mit.edu 37 15 41482139 41482139 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr15:41482139G>A uc001znk.2 - 9 1069 c.878C>T c.(877-879)ACT>ATT p.T293I EXD1_uc001znj.2_Missense_Mutation_p.T91I|EXD1_uc010ucv.1_Missense_Mutation_p.T351I NM_152596 NP_689809 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 293 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding ovary(1) 1 ACCTACCTCAGTGCCTCCAAG 0.517000 SPTBN5 51332 broad.mit.edu 37 15 42171635 42171635 + Missense_Mutation SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr15:42171635A>G uc001zos.2 - 16 3233 c.2900T>C c.(2899-2901)GTG>GCG p.V967A NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1002 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) AAAACTGCACACTTCCACACT 0.632000 CCNDBP1 23582 broad.mit.edu 37 15 43483628 43483628 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr15:43483628G>T uc001zqv.2 + 8 846 c.615G>T c.(613-615)TTG>TTT p.L205F CCNDBP1_uc001zqu.2_Missense_Mutation_p.L77F|CCNDBP1_uc010bdc.2_Missense_Mutation_p.L205F|CCNDBP1_uc010bdb.2_Missense_Mutation_p.L77F|CCNDBP1_uc010udl.1_Missense_Mutation_p.L44F|CCNDBP1_uc001zqw.2_RNA|CCNDBP1_uc001zqx.2_Missense_Mutation_p.L77F|CCNDBP1_uc010bdd.2_Missense_Mutation_p.L77F|CCNDBP1_uc001zqy.2_Missense_Mutation_p.L77F NM_012142 NP_036274 O95273 CCDB1_HUMAN cyclin D-type binding-protein 1 isoform 1 205 Required for interaction with CCND1.|Interaction with TCF3. cell cycle cytoplasm|nucleus protein binding ovary(1)|kidney(1) 2 all_cancers(109;3.31e-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;8.42e-07) CTGGCCTCTTGAATGATACTG 0.413000 TGM7 116179 broad.mit.edu 37 15 43572086 43572086 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr15:43572086G>C uc001zrf.1 - 10 1420 c.1415C>G c.(1414-1416)GCT>GGT p.A472G NM_052955 NP_443187 Q96PF1 TGM7_HUMAN transglutaminase 7 472 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2) 2 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) GGGCAAAGAAGCTCTTTGGGG 0.592000 STRC 161497 broad.mit.edu 37 15 43892850 43892850 + Missense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr15:43892850A>T uc001zsf.2 - 26 4953 c.4875T>A c.(4873-4875)CAT>CAA p.H1625Q STRC_uc010bdl.2_Missense_Mutation_p.H852Q|STRC_uc001zse.2_Missense_Mutation_p.H143Q NM_153700 NP_714544 Q7RTU9 STRC_HUMAN stereocilin precursor 1625 sensory perception of sound cell surface 0 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) AGCACTGGAGATGCAGGGTGC 0.537000 ALDH1A2 8854 broad.mit.edu 37 15 58306438 58306438 + Silent SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr15:58306438T>C uc002aex.2 - 2 217 c.159A>G c.(157-159)AGA>AGG p.R53R ALDH1A2_uc002aey.2_Silent_p.R53R|ALDH1A2_uc010ugv.1_Silent_p.R32R|ALDH1A2_uc010ugw.1_Silent_p.R24R|ALDH1A2_uc002aew.2_5'Flank NM_003888 NP_003879 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1A2 isoform 1 53 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CAGGGAACACTCTCCCACTCT 0.423000 DAPK2 23604 broad.mit.edu 37 15 64200767 64200767 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr15:64200767G>A uc002amr.2 - 12 1096 c.1065C>T c.(1063-1065)ATC>ATT p.I355I DAPK2_uc010uim.1_RNA NM_014326 NP_055141 Q9UIK4 DAPK2_HUMAN death-associated kinase 2 355 apoptosis|induction of apoptosis|intracellular protein kinase cascade cytoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding stomach(1)|central_nervous_system(1) 2 LUAD - Lung adenocarcinoma(2;0.215) TCCTCCTGGCGATGTCCTCCT 0.617000 LARP6 55323 broad.mit.edu 37 15 71124440 71124440 + Missense_Mutation SNP T T G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr15:71124440T>G uc002ass.2 - 3 1498 c.1427A>C c.(1426-1428)GAC>GCC p.D476A NM_018357 NP_060827 Q9BRS8 LARP6_HUMAN La ribonucleoprotein domain family, member 6 476 RNA processing Golgi apparatus|nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 TCTGGTGTTGTCAGGACCCCT 0.527000 PKM2 5315 broad.mit.edu 37 15 72499084 72499084 + Silent SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr15:72499084C>T uc002atx.1 - 8 1366 c.1125G>A c.(1123-1125)GTG>GTA p.V375V PKM2_uc002ats.1_Silent_p.V42V|PKM2_uc002att.1_Silent_p.V141V|PKM2_uc002atu.1_Silent_p.V141V|PKM2_uc010bit.1_Silent_p.V380V|PKM2_uc010uki.1_Silent_p.V449V|PKM2_uc002atv.1_Silent_p.V410V|PKM2_uc002atw.1_Silent_p.V375V|PKM2_uc002aty.1_Silent_p.V375V|PKM2_uc010ukj.1_Silent_p.V360V|PKM2_uc010ukk.1_Silent_p.V301V|PKM2_uc010biu.1_Silent_p.V396V|PKM2_uc002atz.1_RNA NM_182471 NP_872271 P14618 KPYM_HUMAN pyruvate kinase, muscle isoform M1 375 Interaction with POU5F1. glycolysis|programmed cell death cytosol|nucleus|plasma membrane ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity breast(1) 1 Pyruvic acid(DB00119) GCTGCATGCGCACAGCCTCCA 0.597000 CPLX3 594855 broad.mit.edu 37 15 75122677 75122677 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr15:75122677G>T uc002ayu.1 + 3 553 c.459G>T c.(457-459)GAG>GAT p.E153D NM_001030005 NP_001025176 Q8WVH0 CPLX3_HUMAN complexin 3 precursor 153 cell junction|synapse syntaxin binding 0 AATCAGCTGAGAAGTGTCACG 0.592000 BAIAP3 8938 broad.mit.edu 37 16 1395887 1395887 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr16:1395887G>T uc002clk.1 + 23 2309 c.2309G>T c.(2308-2310)GGC>GTC p.G770V BAIAP3_uc002clj.2_Missense_Mutation_p.G752V|BAIAP3_uc010uuz.1_Missense_Mutation_p.G735V|BAIAP3_uc010uva.1_Missense_Mutation_p.G707V|BAIAP3_uc010uvc.1_Missense_Mutation_p.G699V NM_003933 NP_003924 O94812 BAIP3_HUMAN BAI1-associated protein 3 770 MHD1. G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding pancreas(1) 1 Hepatocellular(780;0.0893) ACCCAGCTTGGCCAGGTGTGT 0.706000 SEZ6L2 26470 broad.mit.edu 37 16 29888680 29888680 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr16:29888680G>A uc002duq.3 - 11 2061 c.1821C>T c.(1819-1821)TCC>TCT p.S607S uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Silent_p.S537S|SEZ6L2_uc002dur.3_Silent_p.S537S|SEZ6L2_uc002dus.3_Silent_p.S493S|SEZ6L2_uc010vec.1_Silent_p.S607S|SEZ6L2_uc010ved.1_Silent_p.S563S NM_201575 NP_963869 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 isoform 607 CUB 3.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane|plasma membrane ovary(1)|skin(1) 2 CGGGCCCAGAGGAGAGAAGGC 0.672000 STX4 6810 broad.mit.edu 37 16 31049878 31049878 + Silent SNP G G A rs114513418 by1000genomes TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr16:31049878G>A uc002eal.2 + 8 836 c.612G>A c.(610-612)TCG>TCA p.S204S STX4_uc002eak.2_Silent_p.S202S|STX4_uc002eam.2_Silent_p.S126S NM_004604 NP_004595 Q12846 STX4_HUMAN syntaxin 4 204 Cytoplasmic (Potential).|Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology. intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole SNAP receptor activity 0 ATGAGATCTCGGCCCGGCACA 0.572000 MARVELD3 91862 broad.mit.edu 37 16 71668441 71668441 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr16:71668441C>A uc002fat.2 + 3 1004 c.941C>A c.(940-942)GCG>GAG p.A314E MARVELD3_uc002fau.2_Intron|MARVELD3_uc010cge.2_Intron NM_052858 NP_443090 Q96A59 MALD3_HUMAN MARVEL domain containing 3 isoform 2 314 MARVEL.|Helical; (Potential). integral to membrane skin(1) 1 Ovarian(137;0.125) ATGCTCATCGCGGGGGGGTAC 0.577000 ATP2A3 489 broad.mit.edu 37 17 3839595 3839595 + Missense_Mutation SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr17:3839595A>C uc002fxb.1 - 16 2641 c.2490T>G c.(2488-2490)AGT>AGG p.S830R ATP2A3_uc002fwx.1_Missense_Mutation_p.S830R|ATP2A3_uc002fwy.1_Missense_Mutation_p.S830R|ATP2A3_uc002fwz.1_Missense_Mutation_p.S830R|ATP2A3_uc002fxa.1_Missense_Mutation_p.S830R|ATP2A3_uc002fxc.1_Missense_Mutation_p.S830R|ATP2A3_uc002fxd.1_Missense_Mutation_p.S830R NM_174955 NP_777615 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous isoform b 830 Helical; Name=7; (By similarity). ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding ovary(3)|breast(1)|central_nervous_system(1) 5 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) AGAGCCAGCCACTGATGAGGG 0.602000 SPNS2 124976 broad.mit.edu 37 17 4416589 4416589 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr17:4416589G>A uc002fxx.2 + 2 632 c.418G>A c.(418-420)GCC>ACC p.A140T NM_001124758 NP_001118230 Q8IVW8 SPNS2_HUMAN spinster homolog 2 140 lipid transport|transmembrane transport integral to membrane 0 GGACCGAGGCGCCGGCCTGCT 0.667000 NLRP1 22861 broad.mit.edu 37 17 5442791 5442791 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr17:5442791G>A uc002gci.2 - 7 3369 c.2814C>T c.(2812-2814)GGC>GGT p.G938G NLRP1_uc002gcg.1_Silent_p.G938G|NLRP1_uc002gck.2_Silent_p.G938G|NLRP1_uc002gcj.2_Silent_p.G938G|NLRP1_uc002gcl.2_Silent_p.G938G|NLRP1_uc002gch.3_Silent_p.G938G|NLRP1_uc010clh.2_Silent_p.G938G NM_033004 NP_127497 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 isoform 1 938 LRR 5. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 9 Colorectal(1115;3.48e-05) GCAGTCGCACGCCAACGTCAT 0.622000 CHD3 1107 broad.mit.edu 37 17 7794305 7794305 + Silent SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr17:7794305G>T uc002gje.2 + 4 582 c.432G>T c.(430-432)CTG>CTT p.L144L CHD3_uc002gjd.2_Silent_p.L203L|CHD3_uc002gjf.2_Silent_p.L144L|CHD3_uc002gjg.1_5'UTR NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 144 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) CCTGGGGCCTGGAGGATGTGG 0.552000 AURKB 9212 broad.mit.edu 37 17 8108360 8108360 + Silent SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr17:8108360C>T uc002gkm.2 - 9 925 c.864G>A c.(862-864)GTG>GTA p.V288V AURKB_uc010cnu.2_Silent_p.V108V|AURKB_uc002gkn.2_Silent_p.V289V|AURKB_uc010vuu.1_Silent_p.V247V|AURKB_uc002gko.2_RNA NM_004217 NP_004208 Q96GD4 AURKB_HUMAN aurora kinase B 288 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(1)|central_nervous_system(1) 4 ACTTTAGGTCCACCTGCAGGT 0.557000 SLC6A4 6532 broad.mit.edu 37 17 28537594 28537594 + Missense_Mutation SNP T T C rs35514331 TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr17:28537594T>C uc002hey.3 - 11 1932 c.1388A>G c.(1387-1389)GAG>GGG p.E463G SLC6A4_uc010csg.2_RNA NM_001045 NP_001036 P31645 SC6A4_HUMAN solute carrier family 6 member 4 463 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity skin(3)|ovary(1) 4 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) CACGAACCGCTCCCGGCGCTT 0.597000 MSL1 339287 broad.mit.edu 37 17 38282661 38282661 + Splice_Site SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr17:38282661T>A uc002hub.2 + 2 408 c.389_splice c.e2+2 p.R130_splice MSL1_uc002hua.3_Splice_Site_p.R68_splice|MSL1_uc002huc.2_Splice_Site_p.R68_splice NM_001012241 NP_001012241 Q68DK7 MSL1_HUMAN hampin histone H4-K16 acetylation MSL complex 0 ACATAAAAGGTGTGCTGATAA 0.448000 TNS4 84951 broad.mit.edu 37 17 38645216 38645216 + Nonsense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr17:38645216T>A uc010cxb.2 - 3 609 c.445A>T c.(445-447)AAG>TAG p.K149* NM_032865 NP_116254 Q8IZW8 TENS4_HUMAN tensin 4 precursor 149 apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) TCGATGTACTTTATGTCTTTG 0.443000 KRT9 3857 broad.mit.edu 37 17 39728197 39728197 + Silent SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr17:39728197C>T uc002hxe.3 - 1 114 c.48G>A c.(46-48)GGG>GGA p.G16G JUP_uc010wfs.1_Intron NM_000226 NP_000217 P35527 K1C9_HUMAN keratin 9 16 Poly-Gly.|Head. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|pancreas(1) 3 Breast(137;0.000307) CCCCGCCACCCCCGCCGCTGC 0.647000 RUNDC3A 10900 broad.mit.edu 37 17 42392111 42392111 + Missense_Mutation SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr17:42392111A>G uc002igl.3 + 5 741 c.467A>G c.(466-468)TAT>TGT p.Y156C RUNDC3A_uc002igi.2_Missense_Mutation_p.Y156C|RUNDC3A_uc002igj.2_Missense_Mutation_p.Y151C|RUNDC3A_uc002igk.2_Missense_Mutation_p.Y152C NM_001144825 NP_001138297 Q59EK9 RUN3A_HUMAN RUN domain containing 3A isoform 1 156 Interaction with RAP2A (By similarity).|RUN. small GTPase mediated signal transduction small GTPase regulator activity 0 Prostate(33;0.0233) BRCA - Breast invasive adenocarcinoma(366;0.189) AGACGGTTCTATGACTCTGGA 0.642000 HIGD1B 51751 broad.mit.edu 37 17 42926756 42926756 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr17:42926756G>C uc002ihm.2 + 2 477 c.235G>C c.(235-237)GGT>CGT p.G79R NM_016438 NP_057522 Q9P298 HIG1B_HUMAN HIG1 hypoxia inducible domain family, member 1B 79 HIG1.|Helical; (Potential). integral to membrane 0 Prostate(33;0.109) AATCATGCTAGGTGAGTAGCT 0.483000 KIF18B 146909 broad.mit.edu 37 17 43005443 43005443 + Missense_Mutation SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr17:43005443C>G uc010wji.1 - 13 2337 c.2236G>C c.(2236-2238)GAC>CAC p.D746H KIF18B_uc002iht.2_Missense_Mutation_p.D755H|KIF18B_uc010wjh.1_Missense_Mutation_p.D743H NM_001080443 NP_001073912 kinesin family member 18B ovary(2) 2 Prostate(33;0.155) GGTATTTTGTCCCAGCCAATG 0.602000 UTP18 51096 broad.mit.edu 37 17 49354532 49354532 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr17:49354532G>C uc002its.2 + 7 928 c.879G>C c.(877-879)TTG>TTC p.L293F NM_016001 NP_057085 Q9Y5J1 UTP18_HUMAN UTP18, small subunit processome component 293 WD 2. rRNA processing nucleolus 0 BRCA - Breast invasive adenocarcinoma(22;2.09e-07) GCATCTATTTGGAAAGGTTTC 0.383000 KIF2B 84643 broad.mit.edu 37 17 51900950 51900950 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr17:51900950G>A uc002iua.2 + 1 712 c.556G>A c.(556-558)GAA>AAA p.E186K uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 186 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 CCCCAACTACGAAATCATGCA 0.567000 HEATR6 63897 broad.mit.edu 37 17 58123518 58123518 + Missense_Mutation SNP T T G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr17:58123518T>G uc002iyk.1 - 19 2859 c.2842A>C c.(2842-2844)ACA>CCA p.T948P HEATR6_uc010ddk.1_Missense_Mutation_p.T487P|HEATR6_uc010wos.1_Missense_Mutation_p.T668P NM_022070 NP_071353 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 948 binding ovary(1)|skin(1) 2 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) TCTGCAAATGTGGGTTTTTCT 0.398000 DDX5 1655 broad.mit.edu 37 17 62496077 62496077 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr17:62496077C>T uc002jek.2 - 13 2056 c.1809G>A c.(1807-1809)ATG>ATA p.M603I POLG2_uc002jei.2_5'Flank|POLG2_uc010deg.1_5'Flank|DDX5_uc010deh.2_Missense_Mutation_p.M603I|DDX5_uc002jej.2_Missense_Mutation_p.M498I|DDX5_uc010wqa.1_Missense_Mutation_p.M524I NM_004396 NP_004387 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 603 cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity ovary(2)|lung(1) 3 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) GATAACCAATCATAGGTGCAG 0.363000 T ETV4 prostate AXIN2 8313 broad.mit.edu 37 17 63554148 63554148 + Silent SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr17:63554148G>C uc002jfi.2 - 2 880 c.591C>G c.(589-591)CTC>CTG p.L197L AXIN2_uc010den.1_Silent_p.L197L|AXIN2_uc002jfh.2_Silent_p.L197L|AXIN2_uc002jfj.1_Silent_p.L197L NM_004655 NP_004646 Q9Y2T1 AXIN2_HUMAN axin 2 197 RGS. cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding central_nervous_system(1)|skin(1) 2 TCACATATTCGAGGTATATAT 0.483000 Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome BPTF 2186 broad.mit.edu 37 17 65862627 65862627 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr17:65862627G>C uc002jgf.2 + 3 1545 c.1484G>C c.(1483-1485)AGC>ACC p.S495T BPTF_uc002jge.2_Missense_Mutation_p.S495T|BPTF_uc010wqm.1_Missense_Mutation_p.S495T NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 495 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TGGTATTACAGCACAAAGGTC 0.333000 ABCA8 10351 broad.mit.edu 37 17 66929370 66929370 + Nonsense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr17:66929370G>C uc002jhp.2 - 5 688 c.509C>G c.(508-510)TCA>TGA p.S170* ABCA8_uc002jhq.2_Nonsense_Mutation_p.S170*|ABCA8_uc010wqq.1_Nonsense_Mutation_p.S170*|ABCA8_uc010wqr.1_Nonsense_Mutation_p.S109*|ABCA8_uc002jhr.2_Nonsense_Mutation_p.S170*|ABCA8_uc002jhs.2_Nonsense_Mutation_p.S170*|ABCA8_uc002jht.2_Nonsense_Mutation_p.S170* NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 170 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) CCAAAATACTGAAACTTCACA 0.299000 AZI1 22994 broad.mit.edu 37 17 79180992 79180992 + Missense_Mutation SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr17:79180992C>G uc002jzp.1 - 4 520 c.320G>C c.(319-321)AGT>ACT p.S107T AZI1_uc002jzn.1_Missense_Mutation_p.S107T|AZI1_uc002jzo.1_Missense_Mutation_p.S107T|AZI1_uc010wum.1_Missense_Mutation_p.S107T NM_014984 NP_055799 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 isoform a 107 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle central_nervous_system(2)|large_intestine(1)|ovary(1) 4 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CTTTTTCCCACTGGGGCTGCC 0.647000 SLC38A10 124565 broad.mit.edu 37 17 79226981 79226981 + Missense_Mutation SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr17:79226981C>G uc002jzz.1 - 12 1723 c.1348G>C c.(1348-1350)GAG>CAG p.E450Q SLC38A10_uc002jzy.1_Missense_Mutation_p.E368Q|SLC38A10_uc002kab.2_Missense_Mutation_p.E450Q NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 isoform a 450 amino acid transport|sodium ion transport integral to membrane pancreas(1)|skin(1) 2 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) TCCTCTCTCTCCTTCGGCAGC 0.657000 OREG0024813 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SMAD7 4092 broad.mit.edu 37 18 46476217 46476217 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr18:46476217C>T uc002ldg.2 - 1 865 c.578G>A c.(577-579)TGC>TAC p.C193Y SMAD7_uc010xde.1_5'Flank NM_005904 NP_005895 O15105 SMAD7_HUMAN SMAD family member 7 193 MH1. adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding 0 Colorectal(1;0.0518) ATGGGGGTTGCAGCACACCAG 0.557000 OREG0024975 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C19orf29 58509 broad.mit.edu 37 19 3613108 3613108 + Silent SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr19:3613108C>A uc002lyh.2 - 9 1787 c.1734G>T c.(1732-1734)CCG>CCT p.P578P C19orf29_uc010xho.1_Silent_p.P37P|C19orf29_uc010dtn.2_Silent_p.P426P|C19orf29_uc002lyi.3_Silent_p.P578P|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA NM_001080543 NP_001074012 Q8WUQ7 CS029_HUMAN chromosome 19 open reading frame 29 578 catalytic step 2 spliceosome protein binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) GGTCCTCATCCGGTTCCAGCA 0.711000 DAPK3 1613 broad.mit.edu 37 19 3969677 3969677 + Silent SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr19:3969677C>T uc002lzc.1 - 1 150 c.57G>A c.(55-57)CTG>CTA p.L19L DAPK3_uc002lzd.1_Silent_p.L19L NM_001348 NP_001339 O43293 DAPK3_HUMAN death-associated protein kinase 3 19 ATP (By similarity).|Protein kinase. apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CTCACCTGCCCAGCTCCTCCC 0.607000 OREG0025158 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PTPRS 5802 broad.mit.edu 37 19 5212247 5212247 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr19:5212247C>T uc002mbv.2 - 32 5018 c.4784G>A c.(4783-4785)CGC>CAC p.R1595H PTPRS_uc002mbu.1_Missense_Mutation_p.R1164H|PTPRS_uc010xin.1_Missense_Mutation_p.R1137H|PTPRS_uc002mbw.2_Missense_Mutation_p.R1557H|PTPRS_uc002mbx.2_Missense_Mutation_p.R1152H|PTPRS_uc002mby.2_Missense_Mutation_p.R1148H NM_002850 NP_002841 Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, 1595 Substrate binding (By similarity).|Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GCAGCCTGTGCGGCCCACACC 0.652000 FBN3 84467 broad.mit.edu 37 19 8203127 8203127 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr19:8203127C>T uc002mjf.2 - 9 1120 c.1099G>A c.(1099-1101)GGA>AGA p.G367R NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 367 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 CCATTGGATCCGAAGCCCAGG 0.642000 ANGPTL6 83854 broad.mit.edu 37 19 10205482 10205482 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr19:10205482C>A uc002mmx.1 - 3 833 c.715G>T c.(715-717)GCT>TCT p.A239S ANGPTL6_uc002mmy.1_Missense_Mutation_p.A239S NM_031917 NP_114123 Q8NI99 ANGL6_HUMAN angiopoietin-like 6 precursor 239 angiogenesis|cell differentiation|signal transduction extracellular space receptor binding 0 OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05) ATGGGAGAAGCCATGGGCTCC 0.597000 DNM2 1785 broad.mit.edu 37 19 10893683 10893683 + Nonsense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr19:10893683A>T uc002mps.1 + 6 900 c.736A>T c.(736-738)AAG>TAG p.K246* DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Nonsense_Mutation_p.K246*|DNM2_uc002mpv.1_Nonsense_Mutation_p.K246*|DNM2_uc002mpu.1_Nonsense_Mutation_p.K246*|DNM2_uc010dxl.1_Nonsense_Mutation_p.K246*|DNM2_uc002mpw.2_5'UTR NM_001005361 NP_001005361 P50570 DYN2_HUMAN dynamin 2 isoform 2 246 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding central_nervous_system(2)|skin(2)|ovary(1)|breast(1) 6 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) TGAGGGCAAGAAGGACATCCG 0.607000 MAST1 22983 broad.mit.edu 37 19 12984515 12984515 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr19:12984515G>C uc002mvm.2 + 26 3672 c.3544G>C c.(3544-3546)GGA>CGA p.G1182R NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1182 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(2)|large_intestine(1)|skin(1) 7 CACGCTGCACGGACTGTCGCC 0.687000 CACNA1A 773 broad.mit.edu 37 19 13418938 13418938 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr19:13418938C>A uc010dze.2 - 14 2148 c.1912G>T c.(1912-1914)GGC>TGC p.G638C CACNA1A_uc010dzc.2_Missense_Mutation_p.G163C|CACNA1A_uc002mwy.3_Missense_Mutation_p.G637C|CACNA1A_uc010xne.1_Missense_Mutation_p.G163C NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 638 Extracellular (Potential).|II. cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) ACTTACTGGCCGCCGAAGAGT 0.547000 DDX39 10212 broad.mit.edu 37 19 14521880 14521880 + Silent SNP G G A rs142002555 byFrequency TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr19:14521880G>A uc010xnp.1 - 5 579 c.534C>T c.(532-534)CTC>CTT p.L178L DDX39_uc002myo.2_Silent_p.L178L|DDX39_uc010dzl.2_RNA|DDX39_uc010dzm.1_Silent_p.L178L NM_005804 NP_005795 O00148 DX39A_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39 178 Helicase ATP-binding. mRNA export from nucleus|nuclear mRNA splicing, via spliceosome nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding 0 TATTCCGCACGAGCGCCAGGA 0.557000 AKAP8 10270 broad.mit.edu 37 19 15484654 15484654 + Missense_Mutation SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr19:15484654T>C uc002nav.2 - 4 375 c.314A>G c.(313-315)AAG>AGG p.K105R AKAP8_uc010dzy.2_5'Flank|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_Intron NM_005858 NP_005849 O43823 AKAP8_HUMAN A-kinase anchor protein 8 105 signal transduction nuclear matrix ovary(1)|breast(1) 2 GCCTCCTTCCTTGGACATCAT 0.637000 CYP4F3 4051 broad.mit.edu 37 19 15769193 15769193 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr19:15769193G>T uc002nbj.2 + 10 1285 c.1235G>T c.(1234-1236)CGG>CTG p.R412L CYP4F3_uc010xok.1_Missense_Mutation_p.R412L|CYP4F3_uc010xol.1_Missense_Mutation_p.R412L|CYP4F3_uc010xom.1_Missense_Mutation_p.R263L|CYP4F3_uc002nbk.2_Missense_Mutation_p.R412L|CYP4F3_uc010xon.1_Missense_Mutation_p.R122L NM_000896 NP_000887 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, 412 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding ovary(3) 3 CCAGACGGCCGGGTCATCCCC 0.637000 ZNF93 81931 broad.mit.edu 37 19 20045443 20045443 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr19:20045443C>A uc002non.2 + 4 1790 c.1679C>A c.(1678-1680)ACT>AAT p.T560N NM_031218 NP_112495 P35789 ZNF93_HUMAN zinc finger protein 93 560 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 ATACTTCATACTGGAGAGAAA 0.368000 ZNF626 199777 broad.mit.edu 37 19 20808345 20808345 + Nonsense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr19:20808345A>T uc002npb.1 - 4 488 c.338T>A c.(337-339)TTA>TAA p.L113* ZNF626_uc002npc.1_Nonsense_Mutation_p.L37* NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 113 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 TCCTTTTTTTAACTGTAAATT 0.353000 ZNF536 9745 broad.mit.edu 37 19 31039034 31039034 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr19:31039034C>A uc002nsu.1 + 4 2646 c.2508C>A c.(2506-2508)GAC>GAA p.D836E ZNF536_uc010edd.1_Missense_Mutation_p.D836E NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 836 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) TCAGGCCAGACATCCTGAGGG 0.582000 LRP3 4037 broad.mit.edu 37 19 33698246 33698246 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr19:33698246G>T uc010edh.2 + 7 2171 c.2078G>T c.(2077-2079)TGC>TTC p.C693F LRP3_uc002nuk.3_Missense_Mutation_p.C567F NM_002333 NP_002324 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 693 Cytoplasmic (Potential). receptor-mediated endocytosis coated pit|integral to membrane receptor activity pancreas(2)|ovary(1) 3 Esophageal squamous(110;0.137) GACCCAGAGTGCAGGCCCGTG 0.711000 RYR1 6261 broad.mit.edu 37 19 39062794 39062794 + Missense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr19:39062794A>T uc002oit.2 + 95 14012 c.13882A>T c.(13882-13884)ATG>TTG p.M4628L RYR1_uc002oiu.2_Missense_Mutation_p.M4623L NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 4628 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGATGAGAACATGGTGTACTA 0.607000 AXL 558 broad.mit.edu 37 19 41765531 41765531 + Missense_Mutation SNP T T G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr19:41765531T>G uc010ehj.2 + 20 2597 c.2407T>G c.(2407-2409)TTG>GTG p.L803V CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_5'Flank|HNRNPUL1_uc002oqa.3_5'Flank|AXL_uc010ehk.2_Missense_Mutation_p.L794V NM_021913 NP_068713 P30530 UFO_HUMAN AXL receptor tyrosine kinase isoform 1 803 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 13 GCGGGAAGATTTGGAGAACAC 0.562000 FBXO46 23403 broad.mit.edu 37 19 46215449 46215449 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr19:46215449G>A uc002pcy.2 - 2 1430 c.1305C>T c.(1303-1305)GAC>GAT p.D435D FBXO46_uc002pcz.2_Silent_p.D435D NM_001080469 NP_001073938 Q6PJ61 FBX46_HUMAN F-box protein 46 435 protein binding ovary(1)|lung(1)|breast(1) 3 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) CCTCGGCATCGTCTGGGCCGG 0.716000 STRN4 29888 broad.mit.edu 37 19 47230796 47230796 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr19:47230796G>A uc002pfl.2 - 9 1194 c.1161C>T c.(1159-1161)TTC>TTT p.F387F STRN4_uc002pfm.2_Silent_p.F394F|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA NM_013403 NP_037535 Q9NRL3 STRN4_HUMAN zinedin isoform 1 387 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding 0 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) TGTCCATGATGAAGACGTCTG 0.428000 GLTSCR1 29998 broad.mit.edu 37 19 48185352 48185352 + Silent SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr19:48185352A>T uc002phh.3 + 7 2420 c.2226A>T c.(2224-2226)GGA>GGT p.G742G GLTSCR1_uc002phi.3_Silent_p.G500G NM_015711 NP_056526 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 742 protein binding pancreas(3) 3 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) TCGCCAAAGGAGCTGGCCTCG 0.736000 PRR12 57479 broad.mit.edu 37 19 50098928 50098928 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr19:50098928G>A uc002poo.3 + 4 1336 c.1336G>A c.(1336-1338)GGT>AGT p.G446S NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) TTATTCCCCCGGTCAGCCTCA 0.687000 PRKCG 5582 broad.mit.edu 37 19 54394966 54394966 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr19:54394966G>C uc002qcq.1 + 6 850 c.568G>C c.(568-570)GGT>CGT p.G190R PRKCG_uc010eqz.1_Missense_Mutation_p.G190R|PRKCG_uc010yef.1_Missense_Mutation_p.G190R|PRKCG_uc010yeg.1_Missense_Mutation_p.G190R|PRKCG_uc010yeh.1_Missense_Mutation_p.G77R NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 190 C2. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) GGACCCCAATGGTCTCTCTGA 0.552000 NLRP8 126205 broad.mit.edu 37 19 56466661 56466661 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr19:56466661G>A uc002qmh.2 + 3 1308 c.1237G>A c.(1237-1239)GGA>AGA p.G413R NLRP8_uc010etg.2_Missense_Mutation_p.G413R NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 413 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) AATGGAGAGAGGAAACAATCT 0.478000 ZNF530 348327 broad.mit.edu 37 19 58115657 58115657 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr19:58115657G>A uc002qpk.2 + 2 263 c.43G>A c.(43-45)GCC>ACC p.A15T ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA NM_020880 NP_065931 Q6P9A1 ZN530_HUMAN zinc finger protein 530 15 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GGTTTTTGTAGCCTTTGAGGA 0.522000 GREB1 9687 broad.mit.edu 37 2 11716623 11716623 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr2:11716623C>T uc002rbk.1 + 5 899 c.599C>T c.(598-600)ACT>ATT p.T200I GREB1_uc002rbl.2_Missense_Mutation_p.T200I|GREB1_uc002rbm.2_Missense_Mutation_p.T90I|GREB1_uc002rbn.1_Missense_Mutation_p.T200I NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 200 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GCACAAGGGACTCTAACCAAA 0.498000 APOB 338 broad.mit.edu 37 2 21234023 21234023 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr2:21234023G>A uc002red.2 - 26 5845 c.5717C>T c.(5716-5718)ACC>ATC p.T1906I NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1906 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGCATCGATGGTCATGGTAAA 0.478000 XDH 7498 broad.mit.edu 37 2 31593300 31593300 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr2:31593300C>T uc002rnv.1 - 18 1980 c.1901G>A c.(1900-1902)TGT>TAT p.C634Y NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 634 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GGAAATGAAACAAACAAACCC 0.443000 TTC27 55622 broad.mit.edu 37 2 33002969 33002969 + Silent SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr2:33002969C>G uc002rom.2 + 14 1932 c.1701C>G c.(1699-1701)CTC>CTG p.L567L TTC27_uc010ymx.1_Silent_p.L517L|TTC27_uc002ron.2_RNA NM_017735 NP_060205 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 567 HAT 1.|TPR 4. protein binding central_nervous_system(1) 1 GGTTTTCTCTCGGTTGTGCCT 0.403000 USP34 9736 broad.mit.edu 37 2 61483553 61483553 + Missense_Mutation SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr2:61483553A>C uc002sbe.2 - 48 6209 c.6187T>G c.(6187-6189)TCT>GCT p.S2063A USP34_uc002sbf.2_Missense_Mutation_p.S213A NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 2063 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) CCACAATGAGAACAAGTATAC 0.308000 IMMT 10989 broad.mit.edu 37 2 86371621 86371621 + Missense_Mutation SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr2:86371621C>G uc002sqz.3 - 15 2435 c.2047G>C c.(2047-2049)GAG>CAG p.E683Q IMMT_uc002sqy.3_Missense_Mutation_p.E424Q|IMMT_uc002srb.3_Missense_Mutation_p.E672Q|IMMT_uc002sra.3_Missense_Mutation_p.E682Q|IMMT_uc010ytd.1_Missense_Mutation_p.E671Q|IMMT_uc010yte.1_Missense_Mutation_p.E636Q NM_006839 NP_006830 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial isoform 1 683 Mitochondrial intermembrane (Potential). integral to mitochondrial inner membrane protein binding skin(1) 1 TTTATATCCTCAGGGCAGAGC 0.473000 TSGA10 80705 broad.mit.edu 37 2 99651877 99651877 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr2:99651877T>A uc002szg.3 - 15 2058 c.1430A>T c.(1429-1431)AAG>ATG p.K477M TSGA10_uc002szh.3_Missense_Mutation_p.K477M|TSGA10_uc002szi.3_Missense_Mutation_p.K477M|TSGA10_uc010fin.1_Missense_Mutation_p.K477M NM_182911 NP_878915 Q9BZW7 TSG10_HUMAN testis specific, 10 477 spermatogenesis cytoplasm|nuclear membrane ovary(1)|central_nervous_system(1) 2 AATCTGGGACTTGTAAGACCT 0.303000 EIF5B 9669 broad.mit.edu 37 2 99977640 99977640 + Silent SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr2:99977640C>G uc002tab.2 + 4 460 c.276C>G c.(274-276)ACC>ACG p.T92T NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 92 T -> I (in Ref. 1; CAB44357). regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 AGGAATTCACCTCAAAAGATA 0.294000 CCDC138 165055 broad.mit.edu 37 2 109432434 109432434 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr2:109432434T>A uc002ten.1 + 10 1139 c.1079T>A c.(1078-1080)GTC>GAC p.V360D CCDC138_uc002teo.1_Missense_Mutation_p.V360D|CCDC138_uc002tep.1_Missense_Mutation_p.V44D|CCDC138_uc010fjm.1_Missense_Mutation_p.V44D NM_144978 NP_659415 Q96M89 CC138_HUMAN coiled-coil domain containing 138 360 0 CTTTTAACTGTCTTCATGGAC 0.333000 BUB1 699 broad.mit.edu 37 2 111408206 111408206 + Missense_Mutation SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr2:111408206A>C uc002tgc.2 - 18 2232 c.2120T>G c.(2119-2121)ATT>AGT p.I707S BUB1_uc010yxh.1_Missense_Mutation_p.I687S|BUB1_uc010fkb.2_Missense_Mutation_p.I707S NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 707 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1) 7 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) ATCTTCTGCAATGGCAGCGTC 0.532000 RBM43 375287 broad.mit.edu 37 2 152108058 152108058 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr2:152108058G>C uc002txh.2 - 4 584 c.436C>G c.(436-438)CCC>GCC p.P146A NM_198557 NP_940959 Q6ZSC3 RBM43_HUMAN RNA binding motif protein 43 146 nucleotide binding|RNA binding 0 BRCA - Breast invasive adenocarcinoma(221;0.131) CTTCCATTGGGTTTCAAAGGA 0.388000 SCN3A 6328 broad.mit.edu 37 2 165947259 165947259 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr2:165947259G>A uc002ucx.2 - 28 5896 c.5404C>T c.(5404-5406)CCC>TCC p.P1802S SCN3A_uc010zcy.1_Missense_Mutation_p.P285S|SCN3A_uc002ucy.2_Missense_Mutation_p.P1753S|SCN3A_uc002ucz.2_Missense_Mutation_p.P1753S NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 1802 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) GTCGCATCGGGATCAAACTTT 0.458000 RAPGEF4 11069 broad.mit.edu 37 2 173832034 173832034 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr2:173832034T>A uc002uhv.3 + 10 1053 c.866T>A c.(865-867)TTT>TAT p.F289Y RAPGEF4_uc002uhu.2_Missense_Mutation_p.F289Y|RAPGEF4_uc002uhw.3_Missense_Mutation_p.F145Y|RAPGEF4_uc010zec.1_Missense_Mutation_p.F136Y|RAPGEF4_uc010zed.1_Missense_Mutation_p.F118Y|RAPGEF4_uc010zee.1_Missense_Mutation_p.F136Y|RAPGEF4_uc010fqo.2_Missense_Mutation_p.F118Y|RAPGEF4_uc010zef.1_Missense_Mutation_p.F69Y|RAPGEF4_uc010zeg.1_Missense_Mutation_p.F116Y|RAPGEF4_uc010fqp.1_Missense_Mutation_p.F69Y|RAPGEF4_uc010zeh.1_Missense_Mutation_p.F69Y NM_007023 NP_008954 Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 289 DEP. blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.194) TTCTATCGATTTCTGGATGAT 0.522000 ZAK 51776 broad.mit.edu 37 2 174104139 174104139 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr2:174104139G>T uc002uhz.2 + 16 1474 c.1274G>T c.(1273-1275)GGA>GTA p.G425V uc002uib.2_Intron NM_016653 NP_057737 Q9NYL2 MLTK_HUMAN MLK-related kinase isoform 1 425 activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation cytoplasm|nucleus ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding lung(3)|stomach(1)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.176) TAGGACTCAGGAGGTGAACCT 0.353000 EVX2 344191 broad.mit.edu 37 2 176947082 176947082 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr2:176947082T>A uc010zeu.1 - 2 709 c.523A>T c.(523-525)AGC>TGC p.S175C NM_001080458 NP_001073927 Q03828 EVX2_HUMAN even-skipped homeobox 2 175 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) AGCGCCGCGCTCCCGCCGCTG 0.721000 MSTN 2660 broad.mit.edu 37 2 190924970 190924970 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr2:190924970T>A uc002urp.2 - 2 698 c.565A>T c.(565-567)ATC>TTC p.I189F NM_005259 NP_005250 O14793 GDF8_HUMAN myostatin precursor 189 muscle organ development|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity lung(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) AGAGATCGGATTCCAGTATAC 0.428000 RFTN2 130132 broad.mit.edu 37 2 198495934 198495934 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr2:198495934G>C uc002uuo.3 - 5 1131 c.729C>G c.(727-729)AAC>AAG p.N243K NM_144629 NP_653230 Q52LD8 RFTN2_HUMAN raftlin family member 2 243 plasma membrane 0 TATACAATTTGTTATCTGAGG 0.348000 ORC2L 4999 broad.mit.edu 37 2 201822831 201822831 + Silent SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr2:201822831A>G uc002uwr.2 - 3 273 c.16T>C c.(16-18)TTA>CTA p.L6L ORC2L_uc010zhj.1_Silent_p.L6L NM_006190 NP_006181 Q13416 ORC2_HUMAN origin recognition complex, subunit 2 6 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding 0 TCTTCCTTTAATTCTGGTTTA 0.333000 ZDBF2 57683 broad.mit.edu 37 2 207172799 207172799 + Nonsense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr2:207172799G>T uc002vbp.2 + 5 3797 c.3547G>T c.(3547-3549)GAG>TAG p.E1183* NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1183 nucleic acid binding|zinc ion binding ovary(3) 3 TTTGGAGCAGGAGCACATTGA 0.403000 PLEKHM3 389072 broad.mit.edu 37 2 208725964 208725964 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr2:208725964G>C uc002vcl.2 - 7 2463 c.1973C>G c.(1972-1974)CCA>CGA p.P658R NM_001080475 NP_001073944 Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, 658 intracellular signal transduction metal ion binding ovary(1) 1 GCCCAAGAATGGAGCCAGCTT 0.443000 CYP27A1 1593 broad.mit.edu 37 2 219677108 219677108 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr2:219677108G>A uc002viz.3 + 3 1044 c.610G>A c.(610-612)GAC>AAC p.D204N NM_000784 NP_000775 Q02318 CP27A_HUMAN cytochrome P450, family 27, subfamily A, 204 bile acid biosynthetic process|xenobiotic metabolic process mitochondrial matrix cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 Renal(207;0.0474) Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981) Cholecalciferol(DB00169) CCAGGTGTCGGACATGGCTCA 0.557000 DOCK10 55619 broad.mit.edu 37 2 225651752 225651752 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr2:225651752G>A uc010fwz.1 - 50 5881 c.5642C>T c.(5641-5643)GCA>GTA p.A1881V DOCK10_uc002vob.2_Missense_Mutation_p.A1875V|DOCK10_uc002voa.2_Missense_Mutation_p.A537V|DOCK10_uc002voc.2_Missense_Mutation_p.A702V NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1881 DHR-2. GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CCCATAAAATGCCACACGATA 0.433000 RALGAPA2 57186 broad.mit.edu 37 20 20453520 20453520 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr20:20453520G>A uc002wrz.2 - 37 5591 c.5448C>T c.(5446-5448)ATC>ATT p.I1816I RALGAPA2_uc010gcx.2_Silent_p.I1520I|RALGAPA2_uc010zsg.1_Silent_p.I1264I|RALGAPA2_uc002wsa.1_Silent_p.I588I NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 1816 Rap-GAP. activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 TGCTGGCGTTGATGCACGTGG 0.458000 PTPRT 11122 broad.mit.edu 37 20 41385177 41385177 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr20:41385177C>T uc002xkg.2 - 6 968 c.784G>A c.(784-786)GTC>ATC p.V262I PTPRT_uc010ggj.2_Missense_Mutation_p.V262I NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 262 Extracellular (Potential).|Ig-like C2-type. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TACTTGCTGACGCTCCGCTGG 0.612000 TP53TG5 27296 broad.mit.edu 37 20 44003762 44003762 + Missense_Mutation SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr20:44003762A>G uc002xny.2 - 4 766 c.685T>C c.(685-687)TCC>CCC p.S229P SYS1_uc002xnw.1_3'UTR|SYS1-DBNDD2_uc002xnx.2_Intron NM_014477 NP_055292 Q9Y2B4 T53G5_HUMAN TP53-target gene 5 protein 229 intracellular signal transduction|negative regulation of cell growth cytoplasm|nucleus central_nervous_system(1) 1 AGGGTGGAGGATCTGCACATC 0.597000 ZNF217 7764 broad.mit.edu 37 20 52198293 52198293 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr20:52198293G>C uc002xwq.3 - 1 1344 c.1073C>G c.(1072-1074)GCG>GGG p.A358G ZNF217_uc010gij.1_Missense_Mutation_p.A350G NM_006526 NP_006517 O75362 ZN217_HUMAN zinc finger protein 217 358 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1) 6 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) CACGGAGGGCGCTTCGCCGTG 0.562000 CDH26 60437 broad.mit.edu 37 20 58560139 58560139 + Missense_Mutation SNP T T G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr20:58560139T>G uc002ybe.2 + 7 1092 c.792T>G c.(790-792)GAT>GAG p.D264E CDH26_uc010zzy.1_RNA NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN cadherin-like 26 isoform a 264 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|central_nervous_system(1) 4 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) TTCACGTGGATGTGCAAGAAG 0.557000 OSBPL2 9885 broad.mit.edu 37 20 60859101 60859101 + Splice_Site SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr20:60859101G>A uc002yck.1 + 10 1075 c.873_splice c.e10-1 p.N291_splice OSBPL2_uc002ycl.1_Splice_Site_p.N279_splice|OSBPL2_uc011aah.1_Splice_Site_p.N199_splice|OSBPL2_uc002ycm.1_Splice_Site_p.N103_splice NM_144498 NP_653081 Q9H1P3 OSBL2_HUMAN oxysterol-binding protein-like protein 2 isoform lipid transport lipid binding ovary(1)|central_nervous_system(1) 2 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) TTTAATTACAGCAAAAAGAAG 0.388000 DNAJC5 80331 broad.mit.edu 37 20 62559705 62559705 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr20:62559705G>C uc002yhf.2 + 2 177 c.7G>C c.(7-9)GAC>CAC p.D3H DNAJC5_uc002yhg.1_Missense_Mutation_p.D3H|DNAJC5_uc002yhh.2_RNA NM_025219 NP_079495 Q9H3Z4 DNJC5_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 3 neurotransmitter secretion|protein folding clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane heat shock protein binding|unfolded protein binding pancreas(1) 1 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) TAACATGGCAGACCAGAGACA 0.423000 USP25 29761 broad.mit.edu 37 21 17172100 17172100 + Missense_Mutation SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr21:17172100A>G uc002yjy.1 + 6 797 c.580A>G c.(580-582)AGA>GGA p.R194G USP25_uc011aby.1_Missense_Mutation_p.R194G|USP25_uc002yjz.1_Missense_Mutation_p.R194G|USP25_uc010gla.1_Missense_Mutation_p.R194G NM_013396 NP_037528 Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 194 protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3)|liver(2) 5 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) TTTGGAATTTAGAAGATTAGT 0.299000 COL6A2 1292 broad.mit.edu 37 21 47545507 47545507 + Missense_Mutation SNP G G A rs142002945 TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr21:47545507G>A uc002zia.1 + 25 2027 c.1945G>A c.(1945-1947)GCT>ACT p.A649T COL6A2_uc002zhy.1_Missense_Mutation_p.A649T|COL6A2_uc002zhz.1_Missense_Mutation_p.A649T|COL6A2_uc002zib.1_Missense_Mutation_p.A55T|COL6A2_uc002zic.1_5'Flank NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 649 VWFA 2.|Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) GGGTGCCATCGCTAAGGACCC 0.627000 ZDHHC8 29801 broad.mit.edu 37 22 20126835 20126835 + Nonsense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr22:20126835C>T uc002zrq.2 + 2 329 c.223C>T c.(223-225)CGA>TGA p.R75* ZDHHC8_uc002zrr.1_Nonsense_Mutation_p.R75*|ZDHHC8_uc010gsa.2_5'Flank NM_013373 NP_037505 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC domain containing 8 75 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Colorectal(54;0.0993) TGTTTTCCCCCGAGGTAGGGC 0.562000 HPS4 89781 broad.mit.edu 37 22 26849268 26849268 + Silent SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr22:26849268C>T uc003acl.2 - 14 2717 c.2058G>A c.(2056-2058)CAG>CAA p.Q686Q HPS4_uc003aci.2_Silent_p.Q681Q|HPS4_uc003acj.2_Silent_p.Q550Q|HPS4_uc003ack.2_Silent_p.Q477Q|HPS4_uc003acn.2_Silent_p.Q532Q|HPS4_uc003ach.2_Silent_p.Q421Q NM_022081 NP_071364 Q9NQG7 HPS4_HUMAN light ear protein isoform a 686 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity 0 AGGCGCCATCCTGAGGGTTTG 0.592000 Hermansky-Pudlak_syndrome CRYBB1 1414 broad.mit.edu 37 22 26995521 26995521 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr22:26995521C>T uc003acy.1 - 6 762 c.692G>A c.(691-693)CGC>CAC p.R231H NM_001887 NP_001878 P53674 CRBB1_HUMAN crystallin, beta B1 231 Beta/gamma crystallin 'Greek key' 4. visual perception structural constituent of eye lens ovary(1) 1 GTCACGCAGGCGACGCAGGGA 0.627000 CACNA1I 8911 broad.mit.edu 37 22 40045825 40045825 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr22:40045825G>A uc003ayc.2 + 10 1887 c.1887G>A c.(1885-1887)ACG>ACA p.T629T CACNA1I_uc003ayd.2_Silent_p.T594T|CACNA1I_uc003aye.2_Silent_p.T544T|CACNA1I_uc003ayf.2_Silent_p.T509T NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 629 II.|Cytoplasmic (Potential). axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GGCGGGAGACGCGAGCCAAGC 0.537000 CHKB 1120 broad.mit.edu 37 22 51018797 51018797 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr22:51018797G>A uc003bms.2 - 6 944 c.726C>T c.(724-726)GAC>GAT p.D242D CPT1B_uc003bmk.3_5'Flank|CPT1B_uc003bml.2_5'Flank|CPT1B_uc003bmm.2_5'Flank|CPT1B_uc003bmo.2_5'Flank|CPT1B_uc011asa.1_5'Flank|CPT1B_uc003bmn.2_5'Flank|CPT1B_uc011asb.1_5'Flank|CHKB-CPT1B_uc003bmp.2_5'Flank|CHKB-CPT1B_uc003bmt.1_Silent_p.D33D|CHKB-CPT1B_uc003bmu.2_Silent_p.D121D|CHKB_uc003bmv.2_Silent_p.D242D|LOC100144603_uc003bmw.3_5'Flank NM_005198 NP_005189 Q9Y259 CHKB_HUMAN choline kinase beta 242 phosphatidylethanolamine biosynthetic process ATP binding|choline kinase activity|ethanolamine kinase activity 0 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205) Choline(DB00122) CTTCCTGGATGTCATTGTGGC 0.552000 TMPPE 643853 broad.mit.edu 37 3 33134422 33134422 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr3:33134422G>A uc003cfk.2 - 2 1457 c.1266C>T c.(1264-1266)TTC>TTT p.F422F GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Silent_p.F285F NM_001039770 NP_001034859 Q6ZT21 TMPPE_HUMAN transmembrane protein with 422 integral to membrane metal ion binding 0 TGACATACACGAATGTAGCCT 0.577000 CTNNB1 1499 broad.mit.edu 37 3 41266100 41266100 + Missense_Mutation SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr3:41266100T>C uc010hia.1 + 4 253 c.97T>C c.(97-99)TCT>CCT p.S33P CTNNB1_uc003ckp.2_Missense_Mutation_p.S33P|CTNNB1_uc003ckq.2_Missense_Mutation_p.S33P|CTNNB1_uc003ckr.2_Missense_Mutation_p.S33P|CTNNB1_uc011azf.1_Missense_Mutation_p.S26P|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 33 S -> F (in PTR, MDB and hepatocellular carcinoma).|Missing (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes).|S -> L (in hepatocellular carcinoma). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.S33C(131)|p.S33F(79)|p.A5_A80del(63)|p.S33Y(52)|p.S33P(37)|p.S33A(14)|p.H24_S47del(9)|p.A5_A80>D(7)|p.A5_Q143del(7)|p.Q28_H134del(5)|p.S33L(4)|p.W25_D32del(4)|p.W25_I140del(4)|p.S33N(3)|p.S23_S33del(3)|p.V22_G38del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.D32_S47del(2)|p.W25_H36del(2)|p.Y30_S33del(2)|p.V22_S33del(2)|p.V22_L139>V(2)|p.A5_Y142>D(2)|p.A5fs*7(2)|p.?(2)|p.L10_N141del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.Q28_Q61del(1)|p.S33T(1)|p.S33S(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S29_H36del(1)|p.Y30_A97del(1)|p.A20_A80del(1)|p.Q28_A43del(1)|p.E15_I140>V(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.W25_I35del(1)|p.V22_G80>NNNNN(1)|p.A5_I35del(1)|p.E9_A80del(1)|p.A20_Q143del(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.S33_G34del(1)|p.S23_A39del(1)|p.A21_A80del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.M14_S45del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.D32_H36>D(1)|p.S33_G34insGTS(1)|p.P16_K133del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.A5_R90del(1)|p.W25_A80del(1)|p.M8_A80del(1)|p.S33_S37del(1)|p.E9_I140del(1)|p.D32_S33insS(1)|p.S33_G34insS(1)|p.Y30_T40del(1)|p.S33_G34insGI(1)|p.M1_T42del(1)|p.A5_Q143>E(1)|p.A5_Q72del(1)|p.Y30_A80del(1)|p.D32fs*9(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.S23_I35del(1)|p.V22_S71>A(1)|p.V22_Y64del(1)|p.A20_Q72del(1)|p.A20_S111del(1)|p.D32_H36del(1) CTNNB1/PLAG1(60) liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1) 3166 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) TTACCTGGACTCTGGAATCCA 0.488000 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of CCR9 10803 broad.mit.edu 37 3 45943257 45943257 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr3:45943257G>A uc003coz.1 + 3 1134 c.977G>A c.(976-978)CGG>CAG p.R326Q LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.1_Missense_Mutation_p.R314Q|CCR9_uc003cpa.1_Missense_Mutation_p.R314Q NM_031200 NP_112477 P51686 CCR9_HUMAN chemokine (C-C motif) receptor 9 isoform A 326 Cytoplasmic (Potential). cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane ovary(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214) AGATTCCGCCGGGATCTCGTG 0.507000 PLXNB1 5364 broad.mit.edu 37 3 48455322 48455322 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr3:48455322G>C uc003csw.2 - 22 4638 c.4368C>G c.(4366-4368)GAC>GAG p.D1456E PLXNB1_uc003cst.2_5'UTR|PLXNB1_uc003csu.2_Missense_Mutation_p.D1273E|PLXNB1_uc003csx.2_Missense_Mutation_p.D1456E|PLXNB1_uc010hjx.1_RNA NM_002673 NP_002664 O43157 PLXB1_HUMAN plexin B1 precursor 1456 Extracellular (Potential). axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CAGGCAAAGAGTCAGGTGCCT 0.667000 PFKFB4 5210 broad.mit.edu 37 3 48576698 48576698 + Missense_Mutation SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr3:48576698C>G uc003ctv.2 - 6 516 c.499G>C c.(499-501)GCC>CCC p.A167P PFKFB4_uc003ctw.2_5'UTR|PFKFB4_uc010hkc.2_Missense_Mutation_p.A167P|PFKFB4_uc003ctx.2_Missense_Mutation_p.A124P|PFKFB4_uc010hkb.2_Missense_Mutation_p.A167P|PFKFB4_uc011bbm.1_Missense_Mutation_p.A156P|PFKFB4_uc011bbn.1_RNA NM_004567 NP_004558 Q16877 F264_HUMAN 6-phosphofructo-2-kinase/fructose-2, 167 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) ACGATGTTGGCAGCTATGACC 0.522000 NISCH 11188 broad.mit.edu 37 3 52526002 52526002 + Missense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr3:52526002A>T uc011beg.1 + 22 4091 c.4019A>T c.(4018-4020)GAG>GTG p.E1340V NISCH_uc003ded.3_Missense_Mutation_p.E1340V|NISCH_uc003dee.3_Missense_Mutation_p.E829V|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_Missense_Mutation_p.E89V NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 1340 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity ovary(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) GCTGAGCCAGAGAAGGCCCCA 0.622000 ERC2 26059 broad.mit.edu 37 3 56330199 56330199 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr3:56330199G>T uc003dhr.1 - 3 1178 c.922C>A c.(922-924)CTT>ATT p.L308I NM_015576 NP_056391 O15083 ERC2_HUMAN cytomatrix protein p110 308 Potential. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) ATCTCAAGAAGTTTTTTAATT 0.468000 VGLL3 389136 broad.mit.edu 37 3 87017820 87017820 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr3:87017820G>T uc003dqn.2 - 3 1221 c.857C>A c.(856-858)ACA>AAA p.T286K NM_016206 NP_057290 A8MV65 VGLL3_HUMAN colon carcinoma related protein 286 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) AGAGGTGACTGTAGTTGGTTC 0.532000 VGLL3 389136 broad.mit.edu 37 3 87017831 87017831 + Silent SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr3:87017831T>C uc003dqn.2 - 3 1210 c.846A>G c.(844-846)ACA>ACG p.T282T NM_016206 NP_057290 A8MV65 VGLL3_HUMAN colon carcinoma related protein 282 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) TAGTTGGTTCTGTCTTTGTGA 0.557000 EPHA3 2042 broad.mit.edu 37 3 89457249 89457249 + Missense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr3:89457249A>T uc003dqy.2 + 9 1955 c.1730A>T c.(1729-1731)GAT>GTT p.D577V EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 577 Cytoplasmic (Potential). extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CATGGGGCAGATGAAAAAAGA 0.348000 TSP Lung(6;0.00050) GOLGB1 2804 broad.mit.edu 37 3 121418664 121418664 + Missense_Mutation SNP T T G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr3:121418664T>G uc003eei.3 - 12 1699 c.1573A>C c.(1573-1575)AGT>CGT p.S525R GOLGB1_uc010hrc.2_Missense_Mutation_p.S530R|GOLGB1_uc003eej.3_Missense_Mutation_p.S491R|GOLGB1_uc011bjm.1_Missense_Mutation_p.S411R|GOLGB1_uc010hrd.1_Missense_Mutation_p.S489R NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 525 Potential.|Cytoplasmic (Potential). Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) CTTACCTCACTGACTTCTCTG 0.368000 UROC1 131669 broad.mit.edu 37 3 126214935 126214935 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr3:126214935C>A uc003eiz.1 - 15 1487 c.1455G>T c.(1453-1455)AAG>AAT p.K485N UROC1_uc010hsi.1_Missense_Mutation_p.K545N NM_144639 NP_653240 Q96N76 HUTU_HUMAN urocanase domain containing 1 isoform 1 485 histidine catabolic process cytosol urocanate hydratase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.17) TGTACTGCAGCTTCACAGACA 0.657000 XRN1 54464 broad.mit.edu 37 3 142133030 142133030 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr3:142133030G>T uc003eus.2 - 14 1607 c.1540C>A c.(1540-1542)CTT>ATT p.L514I XRN1_uc010huu.2_5'Flank|XRN1_uc003eut.2_Missense_Mutation_p.L514I|XRN1_uc003euu.2_Missense_Mutation_p.L514I|XRN1_uc003euv.1_Missense_Mutation_p.L375I NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a 514 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding ovary(3) 3 ACAGCAAGAAGCTGTTCAAAT 0.358000 PLSCR2 57047 broad.mit.edu 37 3 146173129 146173129 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr3:146173129C>T uc003evv.1 - 5 551 c.218G>A c.(217-219)AGA>AAA p.R73K PLSCR2_uc003evw.1_Missense_Mutation_p.R142K NM_020359 NP_065092 Q9NRY7 PLS2_HUMAN phospholipid scramblase 2 73 Cytoplasmic (By similarity). phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity 0 GGTAAAAGGTCTAGACCGCCC 0.418000 DNAJC19 131118 broad.mit.edu 37 3 180704741 180704741 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr3:180704741G>T uc003fkt.2 - 4 339 c.199C>A c.(199-201)CTA>ATA p.L67I DNAJC19_uc003fku.2_Intron NM_145261 NP_660304 Q96DA6 TIM14_HUMAN DnaJ homolog, subfamily C, member 19 67 J.|Mitochondrial matrix (Potential). genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception integral to membrane|mitochondrial inner membrane heat shock protein binding 0 all_cancers(143;3.12e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22) CTTACACCTAGTATTAATGCT 0.363000 ATP13A5 344905 broad.mit.edu 37 3 192992921 192992921 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr3:192992921G>A uc011bsq.1 - 30 3567 c.3567C>T c.(3565-3567)AAC>AAT p.N1189N NM_198505 NP_940907 Q4VNC0 AT135_HUMAN ATPase type 13A5 1189 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(5)|skin(4)|large_intestine(2) 11 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CATAGCCTCCGTTGATGTAGA 0.433000 NKX3-2 579 broad.mit.edu 37 4 13543878 13543878 + Missense_Mutation SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr4:13543878C>G uc003gmx.2 - 2 817 c.741G>C c.(739-741)GAG>GAC p.E247D NM_001189 NP_001180 P78367 NKX32_HUMAN NK3 homeobox 2 247 Homeobox. negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TCACCTGCGTCTCGGTGAGCT 0.672000 CWH43 80157 broad.mit.edu 37 4 49052744 49052744 + Silent SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr4:49052744G>C uc003gyv.2 + 15 2081 c.1899G>C c.(1897-1899)CTG>CTC p.L633L CWH43_uc011bzl.1_Silent_p.L606L NM_025087 NP_079363 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog 633 GPI anchor biosynthetic process integral to membrane skin(2)|ovary(1) 3 ATGCTGAACTGAGTGATTCAG 0.383000 ANKRD17 26057 broad.mit.edu 37 4 73957880 73957880 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr4:73957880G>A uc003hgp.2 - 29 5582 c.5465C>T c.(5464-5466)GCA>GTA p.A1822V ANKRD17_uc003hgo.2_Missense_Mutation_p.A1709V|ANKRD17_uc003hgq.2_Missense_Mutation_p.A1571V|ANKRD17_uc003hgr.2_Missense_Mutation_p.A1821V NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 1822 interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GGTGGTAGGTGCTGATGACCC 0.403000 ANKRD17 26057 broad.mit.edu 37 4 73957892 73957892 + Missense_Mutation SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr4:73957892A>C uc003hgp.2 - 29 5570 c.5453T>G c.(5452-5454)ATA>AGA p.I1818R ANKRD17_uc003hgo.2_Missense_Mutation_p.I1705R|ANKRD17_uc003hgq.2_Missense_Mutation_p.I1567R|ANKRD17_uc003hgr.2_Missense_Mutation_p.I1817R NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 1818 interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGATGACCCTATTTTGGAATT 0.393000 SEC31A 22872 broad.mit.edu 37 4 83763493 83763493 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr4:83763493G>T uc003hnf.2 - 22 2932 c.2768C>A c.(2767-2769)TCT>TAT p.S923Y SEC31A_uc003hnd.2_Missense_Mutation_p.S79Y|SEC31A_uc003hne.2_Missense_Mutation_p.S687Y|SEC31A_uc011ccl.1_Missense_Mutation_p.S884Y|SEC31A_uc003hnl.2_Intron|SEC31A_uc003hng.2_Missense_Mutation_p.S923Y|SEC31A_uc003hnh.2_Missense_Mutation_p.S923Y|SEC31A_uc003hni.2_Intron|SEC31A_uc003hnj.2_Missense_Mutation_p.S884Y|SEC31A_uc011ccm.1_Missense_Mutation_p.S918Y|SEC31A_uc011ccn.1_Missense_Mutation_p.S923Y|SEC31A_uc003hnk.2_Missense_Mutation_p.S884Y|SEC31A_uc003hnm.2_Missense_Mutation_p.S923Y NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 923 Interaction with PDCD6.|Pro-rich. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/JAK2(4)|SEC31A/ALK(3) haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1) 8 Hepatocellular(203;0.114) GTACAGCTGAGACTGCCCAGT 0.542000 LARP1B 55132 broad.mit.edu 37 4 129043260 129043260 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr4:129043260G>T uc003iga.2 + 11 1572 c.1441G>T c.(1441-1443)GCT>TCT p.A481S LARP1B_uc003igc.2_5'UTR|LARP1B_uc003ifz.1_Missense_Mutation_p.A481S|LARP1B_uc003igb.1_Missense_Mutation_p.A196S NM_018078 NP_060548 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family member 2 481 RNA binding 0 ATCTGAACTTGCTAAAGTTAT 0.393000 NPY2R 4887 broad.mit.edu 37 4 156135770 156135770 + Silent SNP T T C rs149843372 byFrequency TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr4:156135770T>C uc003ioq.2 + 2 1174 c.679T>C c.(679-681)TTG>CTG p.L227L NPY2R_uc003ior.2_Silent_p.L227L NM_000910 NP_000901 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 227 Helical; Name=5; (Potential). cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity lung(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0854) CTTGTTGATCTTGTATGTTTT 0.448000 FAT1 2195 broad.mit.edu 37 4 187549439 187549439 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr4:187549439G>C uc003izf.2 - 9 4867 c.4679C>G c.(4678-4680)CCG>CGG p.P1560R NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1560 Extracellular (Potential).|Cadherin 13. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GGTGAACCACGGGGCGTGGTC 0.498000 HNSCC(5;0.00058) SLC12A7 10723 broad.mit.edu 37 5 1076859 1076859 + Missense_Mutation SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr5:1076859C>G uc003jbu.2 - 13 1764 c.1698G>C c.(1696-1698)GAG>GAC p.E566D NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride 566 Helical; (Potential). potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) GGATGCCAGTCTCGCAGATGA 0.657000 GZMK 3003 broad.mit.edu 37 5 54327286 54327286 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr5:54327286G>A uc003jpl.1 + 4 502 c.458G>A c.(457-459)GGC>GAC p.G153D NM_002104 NP_002095 P49863 GRAK_HUMAN granzyme K precursor 153 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) AAGGTTACTGGCTGGGGAGCC 0.448000 JMY 133746 broad.mit.edu 37 5 78612029 78612029 + Missense_Mutation SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr5:78612029C>G uc003kfx.3 + 10 3386 c.2866C>G c.(2866-2868)CTA>GTA p.L956V NM_152405 NP_689618 Q8N9B5 JMY_HUMAN junction-mediating and regulatory protein 956 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity 0 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) TACAGACCCTCTAACACGGAG 0.428000 GIN1 54826 broad.mit.edu 37 5 102433117 102433117 + Missense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr5:102433117A>T uc003koa.1 - 6 991 c.909T>A c.(907-909)CAT>CAA p.H303Q GIN1_uc003kob.1_Missense_Mutation_p.H156Q|GIN1_uc003koc.1_Intron NM_017676 NP_060146 Q9NXP7 GIN1_HUMAN zinc finger, H2C2 domain containing 303 DNA integration DNA binding ovary(1)|skin(1) 2 all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283) Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794) CATCCACTTCATGAAGACTAT 0.328000 SNCAIP 9627 broad.mit.edu 37 5 121739486 121739486 + Splice_Site SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr5:121739486A>C uc003ksw.1 + 3 264 c.58_splice c.e3-2 p.Y20_splice SNCAIP_uc011cwl.1_Splice_Site|SNCAIP_uc010jct.2_Splice_Site_p.Y20_splice|SNCAIP_uc003ksx.1_Splice_Site_p.Y67_splice|SNCAIP_uc003ksy.1_Splice_Site_p.L4_splice|SNCAIP_uc003ksz.1_Splice_Site_p.L4_splice|SNCAIP_uc010jcu.2_Splice_Site_p.L4_splice|SNCAIP_uc011cwm.1_Splice_Site_p.L4_splice|SNCAIP_uc003kta.1_Splice_Site_p.S2_splice|SNCAIP_uc010jcv.1_Splice_Site|SNCAIP_uc010jcw.1_Splice_Site_p.L4_splice|SNCAIP_uc010jcx.1_Splice_Site_p.Y20_splice NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN synuclein alpha interacting protein cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding ovary(1)|pancreas(1) 2 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CTTCCCGTTCAGTATTCAGTC 0.438000 PCDHA1 56147 broad.mit.edu 37 5 140167155 140167155 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr5:140167155C>T uc003lhb.2 + 1 1280 c.1280C>T c.(1279-1281)GCG>GTG p.A427V PCDHA1_uc003lha.2_Missense_Mutation_p.A427V|PCDHA1_uc003lgz.2_Missense_Mutation_p.A427V NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 427 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGTGACCGCGCGGGACGGG 0.647000 PCDHB15 56121 broad.mit.edu 37 5 140626809 140626809 + Missense_Mutation SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr5:140626809A>C uc003lje.2 + 1 1663 c.1663A>C c.(1663-1665)AAC>CAC p.N555H NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 555 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTGGACGCCAACGACAACTC 0.716000 ABLIM3 22885 broad.mit.edu 37 5 148627430 148627430 + Missense_Mutation SNP G G A rs138587496 TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr5:148627430G>A uc003lpy.2 + 18 1888 c.1637G>A c.(1636-1638)CGG>CAG p.R546Q ABLIM3_uc003lpz.1_Missense_Mutation_p.R546Q|ABLIM3_uc003lqa.1_Missense_Mutation_p.R443Q|ABLIM3_uc003lqb.2_Missense_Mutation_p.R435Q|ABLIM3_uc003lqc.1_Missense_Mutation_p.R513Q|ABLIM3_uc003lqd.1_Missense_Mutation_p.R451Q|ABLIM3_uc003lqf.2_Missense_Mutation_p.R435Q|ABLIM3_uc003lqe.1_Missense_Mutation_p.R435Q NM_014945 NP_055760 O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 546 axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCCCTCCCCGGAGCTCCACC 0.612000 ATP10B 23120 broad.mit.edu 37 5 160029611 160029611 + Missense_Mutation SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr5:160029611C>G uc003lym.1 - 21 4183 c.3336G>C c.(3334-3336)ATG>ATC p.M1112I ATP10B_uc010jit.1_Missense_Mutation_p.M429I NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 1112 Helical; (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGTACACCACCATCCTGGCCA 0.572000 DUSP22 56940 broad.mit.edu 37 6 311948 311948 + Silent SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr6:311948A>C uc003msx.2 + 3 563 c.124A>C c.(124-126)AGG>CGG p.R42R DUSP22_uc011dhn.1_Silent_p.R42R|DUSP22_uc003msy.1_5'UTR NM_020185 NP_064570 Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 42 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) CGATAGTGCCAGGCCTATGTT 0.502000 DSP 1832 broad.mit.edu 37 6 7574926 7574926 + Silent SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr6:7574926C>A uc003mxp.1 + 17 2613 c.2334C>A c.(2332-2334)CTC>CTA p.L778L DSP_uc003mxq.1_Silent_p.L778L NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 778 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AGGCTATTCTCCAAACAGAAG 0.453000 GABBR1 2550 broad.mit.edu 37 6 29574171 29574171 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr6:29574171G>A uc003nmt.3 - 19 2644 c.2308C>T c.(2308-2310)CTT>TTT p.L770F GABBR1_uc003nmp.3_Missense_Mutation_p.L653F|GABBR1_uc003nms.3_Missense_Mutation_p.L653F|GABBR1_uc003nmu.3_Missense_Mutation_p.L708F|GABBR1_uc011dlr.1_Missense_Mutation_p.L593F NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor 1 770 Helical; Name=5; (Potential). gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(5)|liver(1)|skin(1) 7 Baclofen(DB00181)|Progabide(DB00837) CACACACCAAGCCATGTATTC 0.547000 HLA-E 3133 broad.mit.edu 37 6 30459040 30459040 + Missense_Mutation SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr6:30459040C>G uc003nqg.2 + 4 775 c.737C>G c.(736-738)ACC>AGC p.T246S HLA-E_uc011dmg.1_RNA|HLA-E_uc011dmh.1_Missense_Mutation_p.T287S NM_005516 NP_005507 P13747 HLAE_HUMAN major histocompatibility complex, class I, E 246 Ig-like C1-type.|Alpha-3.|Extracellular (Potential). antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(4)|ovary(1) 5 GAGGGCCATACCCAGGACACG 0.632000 NCR3 259197 broad.mit.edu 37 6 31556854 31556854 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr6:31556854G>T uc003nuv.2 - 4 860 c.596C>A c.(595-597)CCA>CAA p.P199Q NCR3_uc003nuw.2_3'UTR NM_147130 NP_667341 O14931 NCTR3_HUMAN natural cytotoxicity triggering receptor 3 199 Cytoplasmic (Potential). cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity integral to plasma membrane receptor activity ovary(1)|skin(1) 2 TCAGCCTCCTGGGACTGGGGG 0.597000 TAP2 6891 broad.mit.edu 37 6 32782949 32782949 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr6:32782949T>A uc011dqf.1 - 13 2176 c.2054A>T c.(2053-2055)AAG>ATG p.K685M HLA-DOB_uc003oca.2_Missense_Mutation_p.K78M|HLA-DOB_uc011dqg.1_Missense_Mutation_p.K78M NM_018833 NP_061313 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family Error:Variant_position_missing_in_Q03519_after_alignment antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding 0 CTGCCCCAGCTTGGTCAATGC 0.527000 ITPR3 3710 broad.mit.edu 37 6 33652701 33652701 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr6:33652701G>C uc011drk.1 + 39 5507 c.5288G>C c.(5287-5289)GGT>GCT p.G1763A ITPR3_uc003oey.2_5'Flank NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 1763 Cytoplasmic (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 CTGCTGGATGGTGGCAACACA 0.607000 DEFB110 245913 broad.mit.edu 37 6 49976974 49976974 + Silent SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr6:49976974A>G uc011dwr.1 - 2 112 c.66T>C c.(64-66)AAT>AAC p.N22N NM_001037728 NP_001032817 Q30KQ9 DB110_HUMAN beta-defensin 110 isoform b 22 defense response to bacterium extracellular region ovary(1) 1 Lung NSC(77;0.042) TTGGTTCAAAATTGCTTCTGG 0.303000 ICK 22858 broad.mit.edu 37 6 52905948 52905948 + Silent SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr6:52905948C>A uc003pbh.2 - 3 577 c.87G>T c.(85-87)CTG>CTT p.L29L ICK_uc003pbi.2_Silent_p.L29L|ICK_uc003pbj.2_Silent_p.L29L NM_016513 NP_057597 Q9UPZ9 ICK_HUMAN intestinal cell kinase 29 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1) 5 Lung NSC(77;0.103) TAATAGCGATCAGCTCCCCAG 0.468000 PRSS35 167681 broad.mit.edu 37 6 84234250 84234250 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr6:84234250C>T uc003pjz.2 + 2 1253 c.1090C>T c.(1090-1092)CGC>TGC p.R364C PRSS35_uc010kbm.2_Missense_Mutation_p.R364C NM_153362 NP_699193 Q8N3Z0 PRS35_HUMAN protease, serine, 35 precursor 364 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) GAATTGGAAGCGCAAAATCAT 0.512000 BACH2 60468 broad.mit.edu 37 6 90661069 90661069 + Silent SNP A A C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr6:90661069A>C uc011eab.1 - 7 1565 c.756T>G c.(754-756)GGT>GGG p.G252G BACH2_uc003pnw.2_Silent_p.G252G|BACH2_uc010kch.2_Silent_p.G252G NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 252 nucleus protein dimerization activity|sequence-specific DNA binding ovary(3)|pancreas(1)|lung(1)|skin(1) 6 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) TGCTTGCAAAACCTGAGGTAC 0.493000 LATS1 9113 broad.mit.edu 37 6 149983002 149983002 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr6:149983002C>A uc003qmu.1 - 8 3804 c.3256G>T c.(3256-3258)GAC>TAC p.D1086Y LATS1_uc010kif.1_Missense_Mutation_p.D981Y NM_004690 NP_004681 O95835 LATS1_HUMAN LATS homolog 1 1086 AGC-kinase C-terminal. cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) TAGCCATTGTCATCAAAAAAC 0.373000 SYNE1 23345 broad.mit.edu 37 6 152653023 152653023 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr6:152653023G>A uc010kiw.2 - 78 13399 c.12797C>T c.(12796-12798)TCT>TTT p.S4266F SYNE1_uc003qot.3_Missense_Mutation_p.S4195F|SYNE1_uc003qou.3_Missense_Mutation_p.S4266F|SYNE1_uc010kiz.2_Missense_Mutation_p.S21F NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4266 Cytoplasmic (Potential).|Spectrin 12. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTCTGCATCAGATCTGAAAAT 0.348000 HNSCC(10;0.0054) VIP 7432 broad.mit.edu 37 6 153073373 153073373 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr6:153073373T>A uc003qpe.2 + 2 233 c.61T>A c.(61-63)TCA>ACA p.S21T VIP_uc003qpf.2_Missense_Mutation_p.S21T|VIP_uc010kjd.2_Missense_Mutation_p.S21T NM_003381 NP_003372 P01282 VIP_HUMAN vasoactive intestinal peptide isoform 1 21 body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation extracellular region neuropeptide hormone activity 0 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144) TGTGCTCTTCTCACAGACTTC 0.473000 TULP4 56995 broad.mit.edu 37 6 158923411 158923411 + Silent SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr6:158923411C>A uc003qrf.2 + 13 4073 c.2716C>A c.(2716-2718)CGG>AGG p.R906R TULP4_uc003qrg.2_Intron NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 906 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) GCCCCGCACCCGGATGCTGTG 0.652000 CARD11 84433 broad.mit.edu 37 7 2962848 2962848 + Missense_Mutation SNP G G A rs41493047 byFrequency TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr7:2962848G>A uc003smv.2 - 16 2464 c.2060C>T c.(2059-2061)GCG>GTG p.A687V NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 687 PDZ. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GCTCCCTCGCGCGTTGCCCCC 0.697000 Mis DLBCL MMD2 221938 broad.mit.edu 37 7 4949532 4949532 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr7:4949532C>T uc003sno.3 - 6 785 c.589G>A c.(589-591)GCC>ACC p.A197T MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Missense_Mutation_p.A173T|MMD2_uc010ksq.2_Missense_Mutation_p.A173T NM_001100600 NP_001094070 Q8IY49 PAQRA_HUMAN monocyte to macrophage 197 Helical; (Potential). integral to membrane receptor activity central_nervous_system(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) ATGACCAGGGCGGGGAAGAAG 0.478000 FSCN1 6624 broad.mit.edu 37 7 5632769 5632769 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr7:5632769C>T uc003sou.2 + 1 316 c.202C>T c.(202-204)CGC>TGC p.R68C NM_003088 NP_003079 Q16658 FSCN1_HUMAN fascin 1 68 actin filament bundle assembly|cell migration|cell proliferation cell junction|cytoplasm|filopodium|invadopodium|stress fiber actin filament binding|drug binding|protein binding, bridging ovary(1) 1 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13) CCACCTGGGCCGCTACCTGGC 0.711000 HDAC9 9734 broad.mit.edu 37 7 18688166 18688166 + Silent SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr7:18688166T>C uc003suh.2 + 10 1359 c.1318T>C c.(1318-1320)TTG>CTG p.L440L HDAC9_uc003sue.2_Silent_p.L440L|HDAC9_uc011jyd.1_Silent_p.L440L|HDAC9_uc003sui.2_Silent_p.L443L|HDAC9_uc003suj.2_Silent_p.L399L|HDAC9_uc011jya.1_Silent_p.L437L|HDAC9_uc003sua.1_Silent_p.L418L|HDAC9_uc011jyb.1_Silent_p.L396L|HDAC9_uc003sud.1_Silent_p.L440L|HDAC9_uc011jyc.1_Silent_p.L399L|HDAC9_uc003suf.1_Silent_p.L471L|HDAC9_uc010kud.1_Silent_p.L443L|HDAC9_uc011jye.1_Silent_p.L412L|HDAC9_uc011jyf.1_Silent_p.L363L|HDAC9_uc010kue.1_Silent_p.L183L NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 440 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) TACCCACAAATTGCCCCGTCA 0.478000 DNAH11 8701 broad.mit.edu 37 7 21775375 21775375 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr7:21775375G>T uc003svc.2 + 47 7610 c.7579G>T c.(7579-7581)GTA>TTA p.V2527L NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2527 AAA 3 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 AACAGTCTTTGTAGGTGACAC 0.438000 Kartagener_syndrome POMZP3 22932 broad.mit.edu 37 7 76254944 76254944 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr7:76254944G>C uc003uft.2 - 3 869 c.122C>G c.(121-123)CCA>CGA p.P41R uc003ufs.1_Intron|POMZP3_uc003ufu.2_Missense_Mutation_p.P41R|POMZP3_uc003ufv.2_RNA|POMZP3_uc011kgm.1_RNA NM_012230 NP_036362 Q6PJE2 POZP3_HUMAN POMZP3 fusion protein isoform 1 41 0 Myeloproliferative disorder(862;0.204) CTTTGCACATGGGTCTGGGGC 0.418000 FGL2 10875 broad.mit.edu 37 7 76828646 76828646 + Silent SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr7:76828646A>G uc003ugb.2 - 1 505 c.465T>C c.(463-465)CAT>CAC p.H155H CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron NM_006682 NP_006673 Q14314 FGL2_HUMAN fibrinogen-like 2 precursor 155 Potential. signal transduction fibrinogen complex receptor binding skin(2) 2 CCAGGCGACCATGAAGTACAT 0.393000 PCLO 27445 broad.mit.edu 37 7 82545735 82545735 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr7:82545735G>C uc003uhx.2 - 7 11856 c.11567C>G c.(11566-11568)CCA>CGA p.P3856R PCLO_uc003uhv.2_Missense_Mutation_p.P3856R|PCLO_uc010lec.2_Missense_Mutation_p.P821R NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3787 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AGCAGTTCTTGGTCGCTCAAT 0.468000 PCLO 27445 broad.mit.edu 37 7 82585418 82585418 + Silent SNP T T G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr7:82585418T>G uc003uhx.2 - 5 5140 c.4851A>C c.(4849-4851)ACA>ACC p.T1617T PCLO_uc003uhv.2_Silent_p.T1617T NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1548 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CATCAATGCTTGTGCTACTTT 0.408000 SAMD9L 219285 broad.mit.edu 37 7 92763387 92763387 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr7:92763387C>T uc003umh.1 - 5 3114 c.1898G>A c.(1897-1899)AGG>AAG p.R633K SAMD9L_uc003umj.1_Missense_Mutation_p.R633K|SAMD9L_uc003umi.1_Missense_Mutation_p.R633K|SAMD9L_uc010lfb.1_Missense_Mutation_p.R633K|SAMD9L_uc003umk.1_Missense_Mutation_p.R633K|SAMD9L_uc010lfc.1_Missense_Mutation_p.R633K|SAMD9L_uc010lfd.1_Missense_Mutation_p.R633K|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 633 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) GGGCAAAAACCTTCTTGATGA 0.398000 NPTX2 4885 broad.mit.edu 37 7 98256551 98256551 + Silent SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr7:98256551C>A uc003upl.2 + 4 1140 c.963C>A c.(961-963)GGC>GGA p.G321G NM_002523 NP_002514 P47972 NPTX2_HUMAN neuronal pentraxin II precursor 321 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding central_nervous_system(2)|skin(1) 3 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) CACGGGATGGCATGTGGGAGG 0.622000 PLOD3 8985 broad.mit.edu 37 7 100859255 100859255 + Nonsense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr7:100859255C>T uc003uyd.2 - 5 1005 c.549G>A c.(547-549)TGG>TGA p.W183* ZNHIT1_uc003uye.2_5'Flank|ZNHIT1_uc003uyf.2_5'Flank NM_001084 NP_001075 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 183 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) CCTTGTACTTCCACTGGCGCA 0.612000 LHFPL3 375612 broad.mit.edu 37 7 103969641 103969641 + Nonsense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr7:103969641C>A uc003vce.2 + 1 538 c.414C>A c.(412-414)TAC>TAA p.Y138* LHFPL3_uc003vcf.2_Nonsense_Mutation_p.Y138* NM_199000 NP_945351 Q86UP9 LHPL3_HUMAN lipoma HMGIC fusion partner-like 3 124 integral to membrane 0 CCACTGTGTACAAGATATGTG 0.607000 KIAA1549 57670 broad.mit.edu 37 7 138566147 138566147 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr7:138566147G>A uc011kql.1 - 11 4265 c.4216C>T c.(4216-4218)CGT>TGT p.R1406C KIAA1549_uc011kqi.1_Missense_Mutation_p.R190C|KIAA1549_uc003vuk.3_Missense_Mutation_p.R1356C|KIAA1549_uc011kqj.1_Missense_Mutation_p.R1406C|KIAA1549_uc011kqk.1_Missense_Mutation_p.R190C NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 1406 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 CCTCTGTGACGAACATTCTTG 0.502000 O BRAF pilocytic astrocytoma TAS2R4 50832 broad.mit.edu 37 7 141478478 141478478 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr7:141478478G>A uc003vwq.1 + 1 190 c.190G>A c.(190-192)GTG>ATG p.V64M NM_016944 NP_058640 Q9NYW5 TA2R4_HUMAN taste receptor T2R4 64 Helical; Name=2; (Potential). sensory perception of taste cilium membrane taste receptor activity 0 Melanoma(164;0.0171) BRCA - Breast invasive adenocarcinoma(188;0.196) ACTATTTCTGGTGAACACCAT 0.433000 EPHB6 2051 broad.mit.edu 37 7 142566048 142566048 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr7:142566048G>T uc011kst.1 + 14 2755 c.1968G>T c.(1966-1968)CAG>CAT p.Q656H EPHB6_uc011ksu.1_Missense_Mutation_p.Q656H|EPHB6_uc003wbs.2_Missense_Mutation_p.Q364H|EPHB6_uc003wbt.2_Missense_Mutation_p.Q130H|EPHB6_uc003wbu.2_Missense_Mutation_p.Q364H|EPHB6_uc003wbv.2_Missense_Mutation_p.Q40H NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 656 Cytoplasmic (Potential). extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) ACCCCTGTCAGGCCATCCGAG 0.557000 TRPV6 55503 broad.mit.edu 37 7 142573524 142573524 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr7:142573524G>A uc003wbx.1 - 7 1112 c.896C>T c.(895-897)ACC>ATC p.T299I TRPV6_uc003wbw.1_Missense_Mutation_p.T85I|TRPV6_uc010lou.1_Missense_Mutation_p.T170I NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 299 Cytoplasmic (Potential). regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) CCGCTTCTTGGTGGTGATGAT 0.572000 CNTNAP2 26047 broad.mit.edu 37 7 147183113 147183113 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr7:147183113G>A uc003weu.1 + 11 2273 c.1757G>A c.(1756-1758)AGT>AAT p.S586N NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 586 EGF-like 1.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ACAGGATACAGTGGGGCCACC 0.463000 HNSCC(39;0.1) EZH2 2146 broad.mit.edu 37 7 148543680 148543680 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr7:148543680C>A uc003wfd.1 - 3 294 c.128G>T c.(127-129)AGT>ATT p.S43I EZH2_uc011kug.1_Missense_Mutation_p.S43I|EZH2_uc003wfb.1_Missense_Mutation_p.S43I|EZH2_uc003wfc.1_Missense_Mutation_p.S43I|EZH2_uc011kuh.1_Missense_Mutation_p.S43I|EZH2_uc011kui.1_Missense_Mutation_p.S43I|EZH2_uc011kuj.1_RNA NM_004456 NP_004447 Q15910 EZH2_HUMAN enhancer of zeste 2 isoform a 43 Interaction with DNMT1, DNMT3A and DNMT3B.|Interaction with EED (By similarity). negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1) 183 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) ACGATTGGAACTAAACATACT 0.353000 Mis DLBCL SSPO 23145 broad.mit.edu 37 7 149474038 149474038 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr7:149474038G>C uc010lpk.2 + 3 248 c.248G>C c.(247-249)CGG>CCG p.R83P SSPO_uc010lpl.1_Intron NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 83 EMI. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCAGAAACCCGGCCTGCCAAG 0.632000 EN2 2020 broad.mit.edu 37 7 155255080 155255080 + Missense_Mutation SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr7:155255080A>G uc003wmb.2 + 2 949 c.700A>G c.(700-702)AAA>GAA p.K234E NM_001427 NP_001418 P19622 HME2_HUMAN engrailed homeobox 2 234 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CAGGTCTCGAAAACCAAAGAA 0.512000 SGK223 157285 broad.mit.edu 37 8 8234613 8234613 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr8:8234613C>T uc003wsh.3 - 2 1306 c.1306G>A c.(1306-1308)GCT>ACT p.A436T NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 436 Poly-Ala. ATP binding|non-membrane spanning protein tyrosine kinase activity 0 CCCTGGGCAGCAGCTGCATGT 0.607000 GFRA2 2675 broad.mit.edu 37 8 21560414 21560414 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr8:21560414T>A uc003wzu.1 - 7 1796 c.1121A>T c.(1120-1122)CAG>CTG p.Q374L GFRA2_uc003wzv.1_Missense_Mutation_p.Q269L|GFRA2_uc003wzw.1_Missense_Mutation_p.Q241L NM_001495 NP_001486 O00451 GFRA2_HUMAN GDNF family receptor alpha 2 isoform a 374 anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity 0 Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) CCGAGGGGCCTGGGTGGCCTG 0.627000 FGF17 8822 broad.mit.edu 37 8 21905563 21905563 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr8:21905563G>A uc003xag.2 + 5 466 c.454G>A c.(454-456)GCC>ACC p.A152T FGF17_uc003xah.2_Missense_Mutation_p.A141T|FGF17_uc003xai.2_Missense_Mutation_p.A175T NM_003867 NP_003858 O60258 FGF17_HUMAN fibroblast growth factor 17 precursor 152 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development extracellular space growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding 0 Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618) CTGGTTCATGGCCTTCACGCG 0.657000 NEFM 4741 broad.mit.edu 37 8 24774588 24774588 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr8:24774588G>T uc003xed.3 + 3 1253 c.1220G>T c.(1219-1221)GGT>GTT p.G407V NEFM_uc011lac.1_Missense_Mutation_p.G407V|NEFM_uc010lue.2_Missense_Mutation_p.G31V NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 407 Rod.|Coil 2B. neurofilament protein binding|structural constituent of cytoskeleton breast(1) 1 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) CTCCTGGAGGGTGAAGAGACT 0.423000 XKR4 114786 broad.mit.edu 37 8 56436707 56436707 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr8:56436707G>A uc003xsf.2 + 3 1906 c.1874G>A c.(1873-1875)TGT>TAT p.C625Y NM_052898 NP_443130 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related 625 integral to membrane pancreas(2) 2 Epithelial(17;0.000117)|all cancers(17;0.000836) GCTTTTGAATGTTCCCCATCT 0.448000 GDF6 392255 broad.mit.edu 37 8 97157138 97157138 + Missense_Mutation SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr8:97157138G>A uc003yhp.2 - 2 1121 c.1021C>T c.(1021-1023)CGC>TGC p.R341C NM_001001557 NP_001001557 Q6KF10 GDF6_HUMAN growth differentiation factor 6 precursor 341 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(1)|breast(1)|pancreas(1) 3 Breast(36;2.67e-05) TTGCCATGGCGACTGGCGAAG 0.428000 PKHD1L1 93035 broad.mit.edu 37 8 110487423 110487423 + Silent SNP T T C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr8:110487423T>C uc003yne.2 + 51 8786 c.8682T>C c.(8680-8682)AAT>AAC p.N2894N NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2894 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CAAATGCAAATCACATTAACT 0.338000 HNSCC(38;0.096) RNF139 11236 broad.mit.edu 37 8 125499620 125499620 + Missense_Mutation SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr8:125499620A>G uc003yrc.2 + 2 2073 c.1730A>G c.(1729-1731)TAC>TGC p.Y577C NM_007218 NP_009149 Q8WU17 RN139_HUMAN ring finger protein 139 577 RING-type; atypical. Missing: Increases proliferation. Rescues MHC class I to the cell surface. Fails to down-regulate SREBF1 and SREBF2. negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding kidney(1) 1 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) AAATGGCTGTACATTCAAGAT 0.363000 Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3 ASAP1 50807 broad.mit.edu 37 8 131146567 131146567 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr8:131146567C>A uc003yta.1 - 14 1220 c.1192G>T c.(1192-1194)GCA>TCA p.A398S ASAP1_uc003ysz.1_Missense_Mutation_p.A209S|ASAP1_uc011liw.1_Missense_Mutation_p.A391S NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 398 PH. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 TCATCTTCTGCCTGAAAGTGA 0.338000 EPPK1 83481 broad.mit.edu 37 8 144943893 144943893 + Missense_Mutation SNP C C G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr8:144943893C>G uc003zaa.1 - 1 3542 c.3529G>C c.(3529-3531)GCC>CCC p.A1177P NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 1177 cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGCACAGAGGCTAGCAGCTGT 0.677000 KDM4C 23081 broad.mit.edu 37 9 7169838 7169838 + Missense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr9:7169838A>T uc003zkh.2 + 21 3522 c.2942A>T c.(2941-2943)GAG>GTG p.E981V KDM4C_uc003zkg.2_Missense_Mutation_p.E981V|KDM4C_uc011lmk.1_Missense_Mutation_p.E726V|KDM4C_uc011lml.1_Missense_Mutation_p.E668V NM_015061 NP_055876 Q9H3R0 KDM4C_HUMAN jumonji domain containing 2C isoform 1 981 Tudor 2. positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 ATGAAGAGAGAGGACATCTAC 0.388000 TLN1 7094 broad.mit.edu 37 9 35720037 35720037 + Missense_Mutation SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr9:35720037A>G uc003zxt.2 - 13 1817 c.1463T>C c.(1462-1464)CTG>CCG p.L488P NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 488 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GACACTTACCAGAGGAGGCAT 0.602000 RECK 8434 broad.mit.edu 37 9 36102209 36102209 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr9:36102209C>T uc003zyv.2 + 12 1503 c.1417C>T c.(1417-1419)CCT>TCT p.P473S RECK_uc003zyw.2_Missense_Mutation_p.P345S|RECK_uc003zyx.2_RNA NM_021111 NP_066934 O95980 RECK_HUMAN RECK protein precursor 473 anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) GAATTGTATACCTTTGGATAC 0.338000 LCN15 389812 broad.mit.edu 37 9 139658879 139658879 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr9:139658879T>A uc004cjd.2 - 1 87 c.62A>T c.(61-63)GAG>GTG p.E21V NM_203347 NP_976222 Q6UWW0 LCN15_HUMAN lipocalin 15 precursor 21 lipid metabolic process extracellular region binding|transporter activity 0 CAGCAGAACCTCAGCCTGAGC 0.632000 ABCA2 20 broad.mit.edu 37 9 139912242 139912242 + Missense_Mutation SNP C C A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr9:139912242C>A uc011mem.1 - 15 2353 c.2205G>T c.(2203-2205)AAG>AAT p.K735N ABCA2_uc011mel.1_Missense_Mutation_p.K736N|ABCA2_uc004ckl.1_Missense_Mutation_p.K666N|ABCA2_uc004ckm.1_Missense_Mutation_p.K766N|ABCA2_uc004ckn.1_RNA NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 735 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances 0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CGCGCACCTCCTTGAGCCGGT 0.697000 PIGA 5277 broad.mit.edu 37 X 15342846 15342846 + Missense_Mutation SNP T T A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chrX:15342846T>A uc004cwr.2 - 5 1229 c.1129A>T c.(1129-1131)ATC>TTC p.I377F PIGA_uc010neu.2_Intron|PIGA_uc004cwq.2_Missense_Mutation_p.I62F|PIGA_uc010nev.2_Missense_Mutation_p.I208F|PIGA_uc004cws.2_Missense_Mutation_p.I62F|PIGA_uc011miq.1_Missense_Mutation_p.I143F NM_002641 NP_002632 P37287 PIGA_HUMAN phosphatidylinositol 377 Cytoplasmic (Potential). C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding 0 Hepatocellular(33;0.183) ATGTTATGGATGTTTTCTGGA 0.383000 FAM47B 170062 broad.mit.edu 37 X 34962700 34962700 + Silent SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chrX:34962700C>T uc004ddi.1 + 1 1770 c.1752C>T c.(1750-1752)GAC>GAT p.D584D NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 584 ovary(3)|breast(1) 4 ACATTCTTGACGGTCTTTATG 0.453000 MAGEB16 139604 broad.mit.edu 37 X 35820338 35820338 + Nonsense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chrX:35820338C>T uc010ngt.1 + 2 304 c.25C>T c.(25-27)CGA>TGA p.R9* NM_001099921 NP_001093391 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 9 lung(3)|ovary(2)|breast(1)|skin(1) 7 GGAGAGTCCACGATGCACACA 0.562000 TAF1 6872 broad.mit.edu 37 X 70618460 70618460 + Missense_Mutation SNP A A G TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chrX:70618460A>G uc004dzu.3 + 24 3707 c.3656A>G c.(3655-3657)GAG>GGG p.E1219G BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.E1240G|TAF1_uc004dzv.3_Missense_Mutation_p.E393G NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 1219 HMG box. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) CATCGGGAAGAGATGCGAAAA 0.468000 CDX4 1046 broad.mit.edu 37 X 72667553 72667553 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chrX:72667553G>C uc011mqk.1 + 1 464 c.464G>C c.(463-465)AGC>ACC p.S155T NM_005193 NP_005184 O14627 CDX4_HUMAN caudal type homeobox 4 155 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(35;0.156) AGCCGCCACAGCCCCTATGCA 0.622000 DACH2 117154 broad.mit.edu 37 X 85969556 85969556 + Missense_Mutation SNP G G T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chrX:85969556G>T uc004eew.2 + 6 1107 c.937G>T c.(937-939)GAT>TAT p.D313Y DACH2_uc004eex.2_Missense_Mutation_p.D300Y|DACH2_uc010nmq.2_Missense_Mutation_p.D179Y|DACH2_uc011mra.1_Missense_Mutation_p.D146Y|DACH2_uc010nmr.2_Missense_Mutation_p.D94Y|DACH2_uc004eey.2_5'UTR|DACH2_uc004eez.2_5'UTR NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 313 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 TTTAGGACTGGATCTGCCATT 0.348000 ZMAT1 84460 broad.mit.edu 37 X 101138838 101138838 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chrX:101138838G>C uc004eim.2 - 2 4546 c.1048C>G c.(1048-1050)CTC>GTC p.L350V ZMAT1_uc011mrl.1_Missense_Mutation_p.L521V|ZMAT1_uc004ein.2_Missense_Mutation_p.L350V|ZMAT1_uc011mrm.1_Missense_Mutation_p.L350V NM_032441 NP_115817 Q5H9K5 ZMAT1_HUMAN zinc finger, matrin type 1 isoform 3 350 nucleus zinc ion binding ovary(1) 1 TCTGAAGAGAGGTGCTTGTAA 0.418000 TCEAL3 85012 broad.mit.edu 37 X 102864295 102864295 + Silent SNP G G A TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chrX:102864295G>A uc004ekq.2 + 3 565 c.303G>A c.(301-303)CCG>CCA p.P101P TCEAL3_uc004ekr.2_Silent_p.P101P NM_001006933 NP_001006934 Q969E4 TCAL3_HUMAN transcription elongation factor A (SII)-like 3 101 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 AAAAGCGCCCGGCTGAAGATT 0.612000 DOCK11 139818 broad.mit.edu 37 X 117744266 117744266 + Missense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chrX:117744266A>T uc004eqp.2 + 28 3044 c.2981A>T c.(2980-2982)TAT>TTT p.Y994F DOCK11_uc004eqq.2_Missense_Mutation_p.Y760F NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 994 blood coagulation cytosol GTP binding ovary(3) 3 CCCGAGACATATCATCATGTC 0.403000 DDX26B 203522 broad.mit.edu 37 X 134711259 134711259 + Missense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chrX:134711259A>T uc004eyw.3 + 14 2278 c.1915A>T c.(1915-1917)ACT>TCT p.T639S DDX26B_uc004eyx.3_Missense_Mutation_p.T240S NM_182540 NP_872346 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 639 0 Acute lymphoblastic leukemia(192;6.56e-05) AACACCACCTACTGTAACTAA 0.483000 ARHGEF6 9459 broad.mit.edu 37 X 135861601 135861601 + Missense_Mutation SNP A A T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chrX:135861601A>T uc004fab.2 - 2 683 c.221T>A c.(220-222)CTG>CAG p.L74Q NM_004840 NP_004831 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor 6 74 CH. apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity 0 Acute lymphoblastic leukemia(192;0.000127) ACATCCTTTCAGGAAGTCATT 0.458000 SLC10A3 8273 broad.mit.edu 37 X 153717161 153717161 + Nonsense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chrX:153717161C>T uc004flq.2 - 3 383 c.119G>A c.(118-120)TGG>TAG p.W40* UBL4A_uc004flo.2_5'Flank|SLC10A3_uc004flr.2_Nonsense_Mutation_p.W40*|SLC10A3_uc004flp.2_Nonsense_Mutation_p.W40* NM_001142392 NP_001135864 P09131 P3_HUMAN solute carrier family 10, member 3 isoform 1 40 organic anion transport integral to membrane bile acid:sodium symporter activity ovary(1)|skin(1) 2 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TTGGGCCCCCCATGGCAGGCT 0.657000 MPP1 4354 broad.mit.edu 37 X 154020488 154020488 + Missense_Mutation SNP C C T TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chrX:154020488C>T uc004fmp.1 - 2 290 c.175G>A c.(175-177)GCC>ACC p.A59T MPP1_uc010nvg.1_Missense_Mutation_p.A59T|MPP1_uc011mzv.1_Missense_Mutation_p.A29T|MPP1_uc004fmq.1_Missense_Mutation_p.A13T|MPP1_uc011mzw.1_Missense_Mutation_p.A59T|MPP1_uc010nvh.1_Intron NM_002436 NP_002427 Q00013 EM55_HUMAN palmitoylated membrane protein 1 59 regulation of neutrophil chemotaxis|signal transduction integral to plasma membrane|membrane fraction|stereocilium guanylate kinase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TTGACCTGGGCAGGGCTACCT 0.542000 FUNDC2 65991 broad.mit.edu 37 X 154282921 154282921 + Missense_Mutation SNP G G C TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chrX:154282921G>C uc004fmw.2 + 5 694 c.544G>C c.(544-546)GGC>CGC p.G182R NM_023934 NP_076423 Q9BWH2 FUND2_HUMAN FUN14 domain containing 2 182 mitochondrion 0 all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ATTTTTCGGAGGCTTTCTGCT 0.428000 RLTPR 146206 broad.mit.edu 37 16 67686189 67686189 + Frame_Shift_Del DEL G G - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr16:67686189delG uc002etn.2 + 27 2884 c.2764delG c.(2764-2766)GGGfs p.G922fs RLTPR_uc010cel.1_Frame_Shift_Del_p.G915fs|RLTPR_uc010vjr.1_Frame_Shift_Del_p.G886fs|RLTPR_uc010vjs.1_5'Flank NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin 922 Pro-rich. breast(1) 1 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CCTTGAGCCTGGGGAATTGGA 0.498 ALDH16A1 126133 broad.mit.edu 37 19 49965150 49965150 + Frame_Shift_Del DEL G G - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr19:49965150delG uc002pnt.2 + 7 885 c.769delG c.(769-771)GCCfs p.A257fs ALDH16A1_uc010yar.1_Intron|ALDH16A1_uc010yas.1_Frame_Shift_Del_p.A92fs|ALDH16A1_uc010yat.1_Frame_Shift_Del_p.A94fs NM_153329 NP_699160 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 257 oxidoreductase activity|protein binding skin(1) 1 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) GGAAGGGCGTGCCCTTCGACG 0.726 TCP11 6954 broad.mit.edu 37 6 35088008 35088022 + In_Frame_Del DEL AAAACACTGCCGGAG AAAACACTGCCGGAG - rs2234046 byFrequency TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr6:35088008_35088022delAAAACACTGCCGGAG uc003okd.2 - 8 1249_1263 c.1068_1082delCTCCGGCAGTGTTTT c.(1066-1083)TTCTCCGGCAGTGTTTTG>TTG p.FSGSV356del TCP11_uc003ojz.1_In_Frame_Del_p.FSGSV281del|TCP11_uc003oka.2_In_Frame_Del_p.FSGSV281del|TCP11_uc003okb.2_In_Frame_Del_p.FSGSV280del|TCP11_uc003okc.2_In_Frame_Del_p.FSGSV280del|TCP11_uc011dsu.1_In_Frame_Del_p.FSGSV338del|TCP11_uc011dsv.1_In_Frame_Del_p.FSGSV305del|TCP11_uc011dsw.1_In_Frame_Del_p.FSGSV310del NM_001093728 NP_001087197 Q8WWU5 TCP11_HUMAN t-complex 11 isoform 1 343_347 Helical; (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(3)|skin(2) 5 TGAGCCAAACAAAACACTGCCGGAGAAACTACTGG 0.493 WDR85 92715 broad.mit.edu 37 9 140468751 140468751 + Frame_Shift_Del DEL G G - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr9:140468751delG uc004cnk.1 - 5 707 c.549delC c.(547-549)CCCfs p.P183fs WDR85_uc004cnl.1_Frame_Shift_Del_p.P7fs|WDR85_uc004cnm.1_5'UTR|WDR85_uc004cnn.1_Intron NM_138778 NP_620133 Q9BTV6 WDR85_HUMAN WD repeat domain 85 183 peptidyl-diphthamide biosynthetic process from peptidyl-histidine 0 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509) TCTGCAGCCTGGGCCTCGTCT 0.537 PRAMEF2 65122 broad.mit.edu 37 1 12921227 12921235 + In_Frame_Del DEL CTAGGAGCT CTAGGAGCT - rs1063789 byFrequency TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:12921226_12921234CCTAGGAGCT>C uc001aum.1 + 3 1104_1112 c.1017_1025CCTAGGAGCT>C c.(1015-1026)cccctaggagct>ccCt p.LGA340del NM_023014 NP_075390 O60811 PRAM2_HUMAN Homo sapiens PRAME family member 2 (PRAMEF2), mRNA. 340 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTCTTGAACCCCTAGGAGCTCTGCTAGAG 0.536 CSMD2 114784 broad.mit.edu 37 1 34209071 34209082 + In_Frame_Del DEL GTTGAAGGCCAG GTTGAAGGCCAG - rs138506777 TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:34209070_34209081CGTTGAAGGCCAG>C uc001bxm.1 - 13 2150_2161 c.1973_1984CTGGCCTTCAACG>G c.(1972-1986)ctggccttcaacgac>cGac p.658_662LAFND>R CSMD2_uc001bxn.1_In_Frame_Del_p.618_622LAFND>R NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 618 CUB 4. integral to membrane|plasma membrane protein binding p.H662R(1)|p.N621N(1)|p.S660I(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ACGTCAATGTCGTTGAAGGCCAGGTGGATGCG 0.608 NAV1 89796 broad.mit.edu 37 1 201789042 201789042 + Frame_Shift_Del DEL C C - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr1:201789041_201789041AC>A uc021phi.1 + 29 5962 c.5615_5615AC>A c.(5614-5616)aacfs p.N1872fs NAV1_uc001gwu.3_Frame_Shift_Del_p.N1869fs|NAV1_uc001gwx.3_Frame_Shift_Del_p.N1478fs NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA. 1872 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 CTGGACCCCAACCTTCAGGCA 0.517 NCKAP5 344148 broad.mit.edu 37 2 133542843 133542850 + Frame_Shift_Del DEL CAGCCAAA CAGCCAAA - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr2:133542842_133542849CCAGCCAAA>C uc002ttp.3 - 13 1909_1916 c.1535_1542TTTGGCTGG>G c.(1534-1542)tttggctggfs p.F512fs NCKAP5_uc002ttq.3_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA. 512 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TGTTTGTCTCCCAGCCAAACAGACTGTC 0.500 AGER 177 broad.mit.edu 37 6 32148965 32148975 + Frame_Shift_Del DEL CTGATTCAGTT CTGATTCAGTT - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr6:32148964_32148974ACTGATTCAGTT>A uc003oal.2 - 10 1261_1271 c.1161_1171AACTGAATCAGT>T c.(1159-1173)gaactgaatcagtcgfs p.E387fs AGER_uc021yvm.1_3'UTR|AGER_uc021yvn.1_3'UTR|AGER_uc010jtw.2_Non-coding_Transcript|AGER_uc021yvp.1_Frame_Shift_Del_p.E195fs|AGER_uc021yvq.1_3'UTR|AGER_uc011dpn.2_Stop_Codon_Del|AGER_uc011dpm.2_Frame_Shift_Del_p.E277fs|AGER_uc003oap.2_Frame_Shift_Del_p.E403fs|AGER_uc021yvr.1_Intron|AGER_uc003oam.2_Non-coding_Transcript|AGER_uc003oau.2_3'UTR|AGER_uc003oas.2_Stop_Codon_Del|AGER_uc010jtv.2_Stop_Codon_Del|AGER_uc003oar.3_Frame_Shift_Del_p.E286fs|AGER_uc003oaq.2_Frame_Shift_Del_p.E373fs|AGER_uc003oat.2_3'UTR|AGER_uc003oan.2_Frame_Shift_Del_p.T336fs|AGER_uc011dpo.2_Stop_Codon_Del|AGER_uc003oao.2_Non-coding_Transcript|AGER_uc021yvo.1_3'UTR NM_001136 NP_001127 Q15109 RAGE_HUMAN Homo sapiens advanced glycosylation end product-specific receptor (AGER), transcript variant 1, mRNA. 387 cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane S100 alpha binding|transmembrane receptor activity p.L388M(2) breast(1)|endometrium(1)|lung(5)|pancreas(2) 9 GGTTCCTCCGACTGATTCAGTTCTGCACGCT 0.573 B3GAT2 135152 broad.mit.edu 37 6 71571445 71571450 + In_Frame_Del DEL ACGAGA ACGAGA - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr6:71571444_71571449CACGAGA>C uc003pfw.3 - 2 1625_1630 c.969_974TCTCGTG>G c.(967-975)ttctcgtgt>ttGt p.323_325FSC>L SMAP1_uc003pfr.3_3'UTR|SMAP1_uc003pfs.3_3'UTR|SMAP1_uc010kao.3_3'UTR|SMAP1_uc010kap.3_3'UTR|B3GAT2_uc003pfv.3_In_Frame_Del_p.LV297del Q9NPZ5 B3GA2_HUMAN Homo sapiens beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S) (B3GAT2), mRNA. 0 carbohydrate biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 GAGTGTGCCACACGAGAACCTGAAGG 0.481 TOX 9760 broad.mit.edu 37 8 59750777 59750787 + Frame_Shift_Del DEL TCTGGGGCTCA TCTGGGGCTCA - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr8:59750776_59750786TTCTGGGGCTCA>T uc003xtw.1 - 4 999_1009 c.778_788TGAGCCCCAGAA>A c.(778-789)gagccccagaagfs p.E260fs NM_014729 NP_055544 O94900 TOX_HUMAN Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA. 260 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) AGACACAGGCTTCTGGGGCTCATTGGGATCC 0.464 FER1L6 654463 broad.mit.edu 37 8 125015451 125015472 + Frame_Shift_Del DEL AAGAAGTCAGCTGAATCAGCTG AAGAAGTCAGCTGAATCAGCTG - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr8:125015450_125015471TAAGAAGTCAGCTGAATCAGCTG>T uc003yqw.3 + 12 1769_1790 c.1563_1584TAAGAAGTCAGCTGAATCAGCTG>T c.(1561-1584)agtaagaagtcagctgaatcagctfs p.S521fs FER1L6-AS1_uc003yqx.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 521 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) ATCATGGGAGTAAGAAGTCAGCTGAATCAGCTGAAGAAGACC 0.527 HECTD1 25831 broad.mit.edu 37 14 31626445 31626459 + In_Frame_Del DEL CTTCTTTTAACAGTG CTTCTTTTAACAGTG - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr14:31626444_31626458ACTTCTTTTAACAGTG>A uc001wrc.1 - 10 2163_2177 c.1674_1688CACTGTTAAAAGAAGT>T c.(1672-1689)gcactgttaaaagaagtt>gcTt p.LLKEV559del HECTD1_uc001wrd.1_In_Frame_Del_p.LLKEV74del NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN Homo sapiens HECT domain containing 1 (HECTD1), mRNA. 559 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) AGAATCACAAACTTCTTTTAACAGTGCTTCAGAGC 0.330 ANKRD11 29123 broad.mit.edu 37 16 89357231 89357231 + Frame_Shift_Del DEL T T - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr16:89357230_89357230GT>G uc002fmx.1 - 5 865 c.404_404AC>C c.(403-405)acafs p.T135fs ANKRD11_uc002fmy.1_Frame_Shift_Del_p.T135fs|ANKRD11_uc002fnc.1_Frame_Shift_Del_p.T135fs|ANKRD11_uc002fnd.3_Frame_Shift_Del_p.T101fs|ANKRD11_uc002fne.3_Frame_Shift_Del_p.T101fs|ANKRD11_uc002fnb.1_Frame_Shift_Del_p.T92fs NM_013275 NP_037407 Q6UB99 ANR11_HUMAN Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA. 135 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CTTTGGTGTTGTGTCCACTGC 0.537 MAP2K4 6416 broad.mit.edu 37 17 12013711 12013722 + In_Frame_Del DEL ACTTAAAAGAAA ACTTAAAAGAAA - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr17:12013710_12013721CACTTAAAAGAAA>C uc002gnj.3 + 5 721_732 c.652_663CACTTAAAAGAAA>C c.(652-663)cacttaaaagaa>C p.HLKE218del MAP2K4_uc002gnk.3_In_Frame_Del_p.HLKE229del|MAP2K4_uc010vvi.2_In_Frame_Del_p.HLKE100del|MAP2K4_uc010vvj.2_In_Frame_Del_p.HLKE90del NM_003010 NP_003001 P45985 MP2K4_HUMAN Homo sapiens mitogen-activated protein kinase kinase 4 (MAP2K4), mRNA. 218 Protein kinase. JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.0?(10)|p.E221*(4)|p.?(1) NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163) Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681) AGCACTAAACCACTTAAAAGAAAACTTGAAAA 0.311 """D, Mis, N""" """pancreatic, breast, colorectal""" CCDC47 57003 broad.mit.edu 37 17 61829423 61829443 + In_Frame_Del DEL GTTCTCTTCTACTCGGGCACG GTTCTCTTCTACTCGGGCACG - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr17:61829422_61829442AGTTCTCTTCTACTCGGGCACG>A uc002jbs.4 - 11 1565_1585 c.1229_1249CGTGCCCGAGTAGAAGAGAACT>T c.(1228-1251)cgtgcccgagtagaagagaacttc>cTtc p.410_417RARVEENF>L CCDC47_uc010ddx.3_In_Frame_Del_p.410_417RARVEENF>L|CCDC47_uc002jbt.2_In_Frame_Del_p.410_417RARVEENF>L NM_020198 NP_064583 Q96A33 CCD47_HUMAN Homo sapiens coiled-coil domain containing 47 (CCDC47), mRNA. 410 integral to membrane protein binding p.R412R(2) endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 18 AGTTTCAAGAAGTTCTCTTCTACTCGGGCACGGTTCTTATC 0.430 HGS 9146 broad.mit.edu 37 17 79667525 79667555 + Frame_Shift_Del DEL CCCAGCAGGGGCCACTGGGGCGCAGGCGGCC CCCAGCAGGGGCCACTGGGGCGCAGGCGGCC - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr17:79667524_79667554ACCCAGCAGGGGCCACTGGGGCGCAGGCGGCC>A uc002kbg.3 + 18 2045_2075 c.1910_1940ACCCAGCAGGGGCCACTGGGGCGCAGGCGGCC>A c.(1909-1941)tacccagcaggggccactggggcgcaggcggccfs p.Y637fs SLC25A10_uc002kbh.2_5'Flank|SLC25A10_uc010wut.2_5'Flank NM_004712 NP_004703 O14964 HGS_HUMAN Homo sapiens hepatocyte growth factor-regulated tyrosine kinase substrate (HGS), mRNA. 637 Gln-rich.|Interaction with NF2. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of JAK-STAT cascade|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) GCCTACATGTACCCAGCAGGGGCCACTGGGGCGCAGGCGGCCCCCCAGGCC 0.645 ZNF799 90576 broad.mit.edu 37 19 12491160 12491168 + In_Frame_Del DEL TCTTTGAAA TCTTTGAAA - TCGA-HU-A4H5-01A-21D-A25D-08 TCGA-HU-A4H5-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e080d1-cf7d-47c4-b396-034204ca8b04 aa498ac3-968f-488a-a476-d8d2b398fb49 g.chr19:12491159_12491167GTCTTTGAAA>G uc002mts.4 - 3 1429_1437 c.909_917TTTCAAAGAC>C c.(907-918)atttcaaagaca>atCa p.SKT304del Q96GE5 ZN799_HUMAN Homo sapiens zinc finger protein 799 (ZNF799), mRNA. 607 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 GTCCTTTCATGTCTTTGAAATCCAATGAA 0.383