Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut MXRA8 54587 broad.mit.edu 37 1 1290234 1290234 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:1290234G>C uc001aew.2 - 5 808 c.777C>G c.(775-777)ATC>ATG p.I259M MXRA8_uc001aex.3_Missense_Mutation_p.I259M|MXRA8_uc001aey.3_Missense_Mutation_p.I259M|MXRA8_uc010nyl.1_Missense_Mutation_p.I259M|MXRA8_uc001aez.2_Missense_Mutation_p.I158M|MXRA8_uc001afa.2_Missense_Mutation_p.I250M NM_032348 NP_115724 Q9BRK3 MXRA8_HUMAN matrix-remodelling associated 8 precursor 259 Ig-like V-type 2.|Extracellular (Potential). integral to membrane 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CCAGCGGCTCGATACGCAGTG 0.687 NA 9 30 0 0 0 0 ATAD3B 83858 broad.mit.edu 37 1 1417591 1417591 + Silent SNP C C T rs143801965 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:1417591C>T uc001afv.2 + 6 689 c.588C>T c.(586-588)CGC>CGT p.R196R ATAD3B_uc001afw.2_Silent_p.R150R|ATAD3B_uc001afx.2_Silent_p.R150R NM_031921 NP_114127 Q5T9A4 ATD3B_HUMAN AAA-ATPase TOB3 196 Potential. ATP binding|nucleoside-triphosphatase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CCCGGGCGCGCGCCAAGGCCG 0.662 NA 22 21 0 0 0 0 GNB1 2782 broad.mit.edu 37 1 1721851 1721851 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:1721851C>T uc001aif.2 - 9 1014 c.682G>A c.(682-684)GAC>AAC p.D228N GNB1_uc009vky.2_Missense_Mutation_p.D128N NM_002074 NP_002065 P62873 GBB1_HUMAN guanine nucleotide-binding protein, beta-1 228 WD 5. cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission heterotrimeric G-protein complex GTPase activity|GTPase binding|signal transducer activity 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.62e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236) GCATTGATGTCAGACTCGTGG 0.532 NA 6 93 0 0 0 0 MEGF6 1953 broad.mit.edu 37 1 3427384 3427384 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:3427384G>A uc001akl.2 - 10 1424 c.1197C>T c.(1195-1197)GCC>GCT p.A399A MEGF6_uc001akk.2_Silent_p.A294A NM_001409 NP_001400 O75095 MEGF6_HUMAN EGF-like-domain, multiple 3 precursor 399 EGF-like 7. extracellular region calcium ion binding large_intestine(1) 1 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GCCGGTAGCCGGCGTAGCAGC 0.672 NA 30 41 0 0 0 0 AADACL4 343066 broad.mit.edu 37 1 12726206 12726206 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:12726206C>G uc001auf.2 + 4 684 c.684C>G c.(682-684)TTC>TTG p.F228L NM_001013630 NP_001013652 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 228 Lumenal (Potential). integral to membrane carboxylesterase activity 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) TCCAGGCATTCTGTTTGCAGT 0.527 NA 102 177 0 0 0 0 EPHA2 1969 broad.mit.edu 37 1 16461683 16461683 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:16461683C>G uc001aya.1 - 7 1567 c.1430G>C c.(1429-1431)GGA>GCA p.G477A NM_004431 NP_004422 P29317 EPHA2_HUMAN ephrin receptor EphA2 precursor 477 Extracellular (Potential).|Fibronectin type-III 2. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding lung(3)|central_nervous_system(3)|stomach(2)|ovary(2) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GTTGGAGTCTCCCTGTGGGTG 0.677 NA 66 144 0 0 0 0 EPHA2 1969 broad.mit.edu 37 1 16464404 16464404 + Nonsense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:16464404G>C uc001aya.1 - 5 1393 c.1256C>G c.(1255-1257)TCA>TGA p.S419* EPHA2_uc010oca.1_Nonsense_Mutation_p.S419* NM_004431 NP_004422 P29317 EPHA2_HUMAN ephrin receptor EphA2 precursor 419 Extracellular (Potential).|Fibronectin type-III 1. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding lung(3)|central_nervous_system(3)|stomach(2)|ovary(2) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) TACCAGGCCTGAGACGCCATT 0.637 NA 17 79 0 0 0 0 EPHA2 1969 broad.mit.edu 37 1 16475323 16475323 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:16475323C>T uc001aya.1 - 3 510 c.373G>A c.(373-375)GAG>AAG p.E125K EPHA2_uc010oca.1_Missense_Mutation_p.E125K NM_004431 NP_004422 P29317 EPHA2_HUMAN ephrin receptor EphA2 precursor 125 Extracellular (Potential). activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding lung(3)|central_nervous_system(3)|stomach(2)|ovary(2) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) AGGTCCGACTCGGCATAGTAG 0.547 NA 31 60 0 0 0 0 CROCC 9696 broad.mit.edu 37 1 17264170 17264170 + Missense_Mutation SNP G G C rs141704732 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:17264170G>C uc001azt.2 + 10 1297 c.1228G>C c.(1228-1230)GAG>CAG p.E410Q CROCC_uc009voy.1_Missense_Mutation_p.E113Q|CROCC_uc009voz.1_Missense_Mutation_p.E173Q|CROCC_uc001azu.2_5'Flank NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 410 Potential. cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GAAGCGTCTTGAGAAGCAGAA 0.572 NA 6 18 0 0 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 18023375 18023375 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:18023375G>A uc001ban.2 + 29 3499 c.3340G>A c.(3340-3342)GGG>AGG p.G1114R ARHGEF10L_uc001bao.2_Missense_Mutation_p.G1075R|ARHGEF10L_uc001bap.2_Missense_Mutation_p.G1070R|ARHGEF10L_uc001baq.2_Missense_Mutation_p.G875R|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.G887R|ARHGEF10L_uc001bar.2_Missense_Mutation_p.G817R|ARHGEF10L_uc009vpf.2_RNA|ARHGEF10L_uc001bas.2_Missense_Mutation_p.G138R NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 1114 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(1)|ovary(1)|pancreas(1) 3 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) CGGGCACTGTGGGCCTGTGGC 0.627 NA OREG0013156 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 32 0 0 0 0 UBR4 23352 broad.mit.edu 37 1 19407997 19407997 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:19407997C>G uc001bbi.2 - 103 15083 c.15079G>C c.(15079-15081)GAG>CAG p.E5027Q UBR4_uc001bbf.2_5'UTR|UBR4_uc010ocv.1_Missense_Mutation_p.E550Q|UBR4_uc009vph.2_Missense_Mutation_p.E661Q|UBR4_uc010ocw.1_Missense_Mutation_p.E691Q|UBR4_uc001bbg.2_Missense_Mutation_p.E738Q|UBR4_uc001bbh.2_Missense_Mutation_p.E736Q NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 5027 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) AAGGCACTCTCCACCCACTTC 0.517 NA 92 195 0 0 0 0 UBR4 23352 broad.mit.edu 37 1 19446699 19446699 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:19446699G>A uc001bbi.2 - 69 10289 c.10285C>T c.(10285-10287)CAC>TAC p.H3429Y UBR4_uc001bbj.1_5'Flank NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3429 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) GTCAGACAGTGGGCCTGCCAG 0.512 NA 13 108 0 0 0 0 NUDC 10726 broad.mit.edu 37 1 27272172 27272172 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:27272172G>A uc001bng.1 + 8 1055 c.939G>A c.(937-939)CTG>CTA p.L313L NUDC_uc001bnh.1_Silent_p.L370L|NUDC_uc009vsq.1_Silent_p.L287L NM_006600 NP_006591 Q9Y266 NUDC_HUMAN nuclear distribution gene C homolog 313 cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development cytosol|microtubule|nucleoplasm protein binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421) AGGAGATTCTGAAGAAGTGAG 0.547 NA 8 124 0 0 0 0 AHDC1 27245 broad.mit.edu 37 1 27877465 27877465 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:27877465C>T uc009vsy.2 - 6 2131 c.1162G>A c.(1162-1164)GAT>AAT p.D388N AHDC1_uc009vsz.1_Missense_Mutation_p.D388N|AHDC1_uc001boh.1_Missense_Mutation_p.D261N NM_001029882 NP_001025053 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 388 Pro-rich. DNA binding central_nervous_system(1) 1 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) TTTGGCCTATCAGTGCGCCGC 0.716 NA 6 15 0 0 0 0 C1orf38 9473 broad.mit.edu 37 1 28211959 28211959 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:28211959C>G uc001bpc.3 + 5 1901 c.1873C>G c.(1873-1875)CTA>GTA p.L625V C1orf38_uc001boz.2_3'UTR|C1orf38_uc001bpa.2_3'UTR|C1orf38_uc010ofn.1_Missense_Mutation_p.L429V|C1orf38_uc010ofo.1_Missense_Mutation_p.L496V NM_001105556 NP_001099026 Q5TEJ8 THMS2_HUMAN basement membrane-induced gene isoform 3 625 cell adhesion|inflammatory response ovary(1) 1 Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649) AAGGCAGGATCTAGGTGAGTC 0.597 NA 11 29 0 0 0 0 BSDC1 55108 broad.mit.edu 37 1 32841914 32841914 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:32841914C>G uc001bvh.3 - 9 1152 c.1105G>C c.(1105-1107)GAG>CAG p.E369Q BSDC1_uc010ohg.1_Missense_Mutation_p.E386Q|BSDC1_uc010ohh.1_Missense_Mutation_p.E313Q|BSDC1_uc010ohi.1_Missense_Mutation_p.E274Q|BSDC1_uc001bvg.3_RNA|BSDC1_uc001bvj.2_Missense_Mutation_p.E265Q|BSDC1_uc001bvi.2_Missense_Mutation_p.E386Q NM_018045 NP_060515 Q9NW68 BSDC1_HUMAN BSD domain containing 1 isoform b 369 protein binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GAGTTCAGCTCAAACACCCGT 0.617 NA 47 121 0 0 0 0 KIAA1522 57648 broad.mit.edu 37 1 33234274 33234274 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:33234274G>A uc001bvv.2 + 4 443 c.307G>A c.(307-309)GAA>AAA p.E103K KIAA1522_uc001bvu.1_Missense_Mutation_p.E162K|KIAA1522_uc010ohm.1_Missense_Mutation_p.E114K|KIAA1522_uc010ohn.1_Missense_Mutation_p.E103K NM_020888 NP_065939 Q9P206 K1522_HUMAN hypothetical protein LOC57648 103 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) GGGGCCGGATGAAGACAACAT 0.532 NA 11 49 0 0 0 0 KIAA1522 57648 broad.mit.edu 37 1 33234319 33234319 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:33234319G>C uc001bvv.2 + 4 488 c.352G>C c.(352-354)GAG>CAG p.E118Q KIAA1522_uc001bvu.1_Missense_Mutation_p.E177Q|KIAA1522_uc010ohm.1_Missense_Mutation_p.E129Q|KIAA1522_uc010ohn.1_Missense_Mutation_p.E118Q NM_020888 NP_065939 Q9P206 K1522_HUMAN hypothetical protein LOC57648 118 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CTACGTGGCTGAGAGCTCCAC 0.602 NA 5 30 0 0 0 0 DLGAP3 58512 broad.mit.edu 37 1 35334493 35334493 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:35334493G>A uc001byc.2 - 7 2198 c.2198C>T c.(2197-2199)ACG>ATG p.T733M NM_001080418 NP_001073887 O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated 733 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane ovary(3) 3 Myeloproliferative disorder(586;0.0393) CTGGCCCTGCGTGTGGACCGT 0.592 NA 12 12 0 0 0 0 NCDN 23154 broad.mit.edu 37 1 36024783 36024783 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:36024783G>A uc001bza.2 + 3 236 c.109G>A c.(109-111)GAG>AAG p.E37K KIAA0319L_uc001byx.2_5'Flank|KIAA0319L_uc010ohw.1_5'Flank|KIAA0319L_uc001byz.2_5'Flank|KIAA0319L_uc010ohx.1_5'Flank|NCDN_uc001bzb.2_Missense_Mutation_p.E37K|NCDN_uc001bzc.2_Missense_Mutation_p.E20K NM_001014839 NP_001014839 Q9UBB6 NCDN_HUMAN neurochondrin isoform 1 37 neuron projection development cytosol|dendrite|neuronal cell body large_intestine(2)|pancreas(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CCCCACCCTGGAGCGCTACCT 0.597 NA 21 78 0 0 0 0 EIF2C3 192669 broad.mit.edu 37 1 36506033 36506033 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:36506033G>C uc001bzp.2 + 16 2419 c.2163G>C c.(2161-2163)AGG>AGC p.R721S EIF2C3_uc001bzq.2_Missense_Mutation_p.R487S NM_024852 NP_079128 Q9H9G7 AGO3_HUMAN eukaryotic translation initiation factor 2C, 3 721 Piwi. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GTGCTGATAGGACAGAAAGGG 0.413 NA 26 75 0 0 0 0 MUTYH 4595 broad.mit.edu 37 1 45796983 45796983 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:45796983G>C uc001cnm.2 - 14 1554 c.1338C>G c.(1336-1338)ATC>ATG p.I446M MUTYH_uc009vxn.2_Missense_Mutation_p.I271M|MUTYH_uc001cnf.2_Missense_Mutation_p.I421M|MUTYH_uc009vxo.2_Missense_Mutation_p.I421M|MUTYH_uc001cng.2_Missense_Mutation_p.I432M|MUTYH_uc001cnj.2_Missense_Mutation_p.I329M|MUTYH_uc001cni.2_Missense_Mutation_p.I421M|MUTYH_uc001cnh.2_Missense_Mutation_p.I422M|MUTYH_uc001cno.2_Missense_Mutation_p.I329M|MUTYH_uc001cnk.2_Missense_Mutation_p.I306M|MUTYH_uc010oll.1_Missense_Mutation_p.I130M|MUTYH_uc001cnl.2_Missense_Mutation_p.I435M|MUTYH_uc009vxp.2_Missense_Mutation_p.I449M|MUTYH_uc001cnn.2_Missense_Mutation_p.I436M NM_012222 NP_036354 Q9UIF7 MUTYH_HUMAN mutY homolog isoform 1 446 Nudix hydrolase. depurination|mismatch repair nucleoplasm 4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding 0 Acute lymphoblastic leukemia(166;0.155) ATGTCAGCTTGATGTGAGAGA 0.537 NA Mis colorectal BER_DNA_glycosylases MUTYH-associated_polyposis 11 58 0 0 0 0 CYP4X1 260293 broad.mit.edu 37 1 47515108 47515108 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:47515108G>C uc001cqt.2 + 11 1537 c.1287G>C c.(1285-1287)TTG>TTC p.L429F CYP4X1_uc001cqr.2_Missense_Mutation_p.L428F|CYP4X1_uc001cqs.2_Missense_Mutation_p.L364F NM_178033 NP_828847 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, 429 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1)|skin(1) 2 TTGACCCCTTGAGGTTCTCTC 0.423 NA 36 95 0 0 0 0 SGIP1 84251 broad.mit.edu 37 1 67155939 67155939 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:67155939G>A uc001dcr.2 + 17 1727 c.1510G>A c.(1510-1512)GAA>AAA p.E504K SGIP1_uc010opd.1_Missense_Mutation_p.E104K|SGIP1_uc001dcs.2_Missense_Mutation_p.E104K|SGIP1_uc001dct.2_Missense_Mutation_p.E104K|SGIP1_uc009wat.2_Missense_Mutation_p.E298K NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 504 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 AGCGCGGGCTGAAAGCACTTC 0.453 NA 55 140 0 0 0 0 C1orf141 400757 broad.mit.edu 37 1 67558949 67558949 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:67558949G>C uc001ddl.1 - 7 1053 c.942C>G c.(940-942)CTC>CTG p.L314L C1orf141_uc001ddm.1_Silent_p.L314L|C1orf141_uc001ddn.1_RNA NM_001013674 NP_001013696 Q5JVX7 CA141_HUMAN hypothetical protein LOC400757 314 ovary(1) 1 AGAAATTATAGAGTGTATTCC 0.343 NA 31 98 0 0 0 0 LRRC7 57554 broad.mit.edu 37 1 70505167 70505167 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:70505167G>C uc001dep.2 + 19 3576 c.3546G>C c.(3544-3546)GTG>GTC p.V1182V LRRC7_uc009wbg.2_Silent_p.V466V|LRRC7_uc001deq.2_Silent_p.V423V NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1182 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 ATCAAGAAGTGAAAGCTCAGG 0.502 NA 15 53 0 0 0 0 USP33 23032 broad.mit.edu 37 1 78163136 78163136 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:78163136C>T uc001dht.2 - 25 3042 c.2695G>A c.(2695-2697)GAA>AAA p.E899K USP33_uc009wca.1_RNA|USP33_uc001dhs.2_3'UTR|USP33_uc001dhu.2_Missense_Mutation_p.E868K NM_015017 NP_055832 Q8TEY7 UBP33_HUMAN ubiquitin specific protease 33 isoform 1 899 DUSP 2. axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(2)|ovary(1) 3 CATGTTTCTTCAGAAATCTGG 0.388 NA 35 114 0 0 0 0 LRRC8C 84230 broad.mit.edu 37 1 90178699 90178699 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:90178699G>C uc001dnl.3 + 3 812 c.570G>C c.(568-570)AAG>AAC p.K190N NM_032270 NP_115646 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member 190 endoplasmic reticulum membrane|integral to membrane ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) ACAACAGGAAGAACAACATGA 0.453 NA 17 78 0 0 0 0 ABCA4 24 broad.mit.edu 37 1 94528713 94528713 + Missense_Mutation SNP C C T rs61748559 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:94528713C>T uc001dqh.2 - 12 1819 c.1715G>A c.(1714-1716)CGA>CAA p.R572Q ABCA4_uc010otn.1_Missense_Mutation_p.R572Q NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 572 Extracellular. R -> P (in STGD1).|R -> Q (in STGD1). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TATGTCCATTCGGATCTTATA 0.473 NA 58 148 0 0 0 0 WDR77 79084 broad.mit.edu 37 1 111990152 111990152 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:111990152G>A uc001ebb.2 - 3 387 c.348C>T c.(346-348)GTC>GTT p.V116V WDR77_uc010owd.1_Intron|WDR77_uc010owe.1_Intron|ATP5F1_uc009wgf.1_5'Flank|ATP5F1_uc001ebc.2_5'Flank|ATP5F1_uc001ebd.3_5'Flank NM_024102 NP_077007 Q9BQA1 MEP50_HUMAN WD repeat domain 77 116 WD 1. ncRNA metabolic process|spliceosomal snRNP assembly cytosol|nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding 0 all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) AGAACTTGCTGACAATAAGTG 0.453 NA 11 40 0 0 0 0 DDX20 11218 broad.mit.edu 37 1 112303904 112303904 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:112303904C>T uc001ebs.2 + 7 1376 c.1019C>T c.(1018-1020)TCA>TTA p.S340L DDX20_uc010owf.1_Missense_Mutation_p.S102L|DDX20_uc001ebt.2_5'UTR NM_007204 NP_009135 Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 340 Helicase C-terminal. assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding lung(1)|kidney(1) 2 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAGTGCATTTCAGGTAAGTTC 0.338 NA 11 78 0 0 0 0 PDZK1 5174 broad.mit.edu 37 1 145761230 145761230 + Missense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:145761230C>A uc001eon.1 + 8 1140 c.1043C>A c.(1042-1044)TCT>TAT p.S348Y NBPF10_uc001emp.3_Intron|PDZK1_uc001eoo.1_Missense_Mutation_p.S348Y|PDZK1_uc010oza.1_Missense_Mutation_p.S237Y NM_002614 NP_002605 Q5T2W1 NHRF3_HUMAN PDZ domain containing 1 348 carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport brush border membrane|cytoplasm PDZ domain binding|transporter activity 0 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) CCCAATGGCTCTGTCAAGGAG 0.423 NA 22 67 7.04e-22 7.57e-22 1 0 HIST2H3D 653604 broad.mit.edu 37 1 149784945 149784945 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:149784945C>T uc010pbl.1 - 1 292 c.292G>A c.(292-294)GAG>AAG p.E98K HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank NM_001123375 NP_001116847 Q71DI3 H32_HUMAN histone cluster 2, H3d 98 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding|protein binding 0 AGGTAGGCCTCGCTGGCCTCC 0.642 NA 14 50 0 0 0 0 RFX5 5993 broad.mit.edu 37 1 151317305 151317305 + Silent SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:151317305C>A uc001exv.1 - 6 466 c.252G>T c.(250-252)CTG>CTT p.L84L RFX5_uc001exw.1_Silent_p.L84L|RFX5_uc009wmr.1_Silent_p.L84L|RFX5_uc010pcx.1_Intron NM_001025603 NP_001020774 P48382 RFX5_HUMAN regulatory factor X, 5 84 N-terminal domain. nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung SC(34;0.00471)|Ovarian(49;0.0147)|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) CCTCATTGCTCAGTGTACTTG 0.463 NA 8 59 7.48e-07 7.79e-07 1 0 TCHH 7062 broad.mit.edu 37 1 152079998 152079998 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:152079998C>T uc001ezp.2 - 2 5695 c.5695G>A c.(5695-5697)GGG>AGG p.G1899R TCHH_uc009wne.1_Missense_Mutation_p.G1899R NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1899 keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTTATCTCCCCGACTTGGCGG 0.582 NA 27 105 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152282518 152282518 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:152282518G>A uc001ezu.1 - 3 4880 c.4844C>T c.(4843-4845)TCC>TTC p.S1615F NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1615 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGGTTTCTGGAAGCCGACTC 0.572 NA Ichthyosis 57 147 0 0 0 0 KPRP 448834 broad.mit.edu 37 1 152733229 152733229 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:152733229G>C uc001fal.1 + 2 1223 c.1165G>C c.(1165-1167)GAC>CAC p.D389H NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 389 Pro-rich. cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ACGGCGTCTTGACCAGTGTCC 0.647 NA 15 31 0 0 0 0 S100A2 6273 broad.mit.edu 37 1 153533966 153533966 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:153533966G>A uc001fcb.2 - 3 581 c.243C>T c.(241-243)CTC>CTT p.L81L NM_005978 NP_005969 P29034 S10A2_HUMAN S100 calcium binding protein A2 82 EF-hand 2. endothelial cell migration calcium ion binding ovary(1) 1 all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TGACAGTGATGAGTGCCAGGA 0.542 NA 4 184 0 0 0 0 ZBTB7B 51043 broad.mit.edu 37 1 154988249 154988249 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:154988249G>C uc001fgk.3 + 3 1271 c.1113G>C c.(1111-1113)GAG>GAC p.E371D ZBTB7B_uc009wpa.2_Missense_Mutation_p.E371D|ZBTB7B_uc001fgj.3_Missense_Mutation_p.E405D|ZBTB7B_uc010peq.1_Missense_Mutation_p.E405D|ZBTB7B_uc001fgl.3_Missense_Mutation_p.E371D NM_015872 NP_056956 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 371 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding 0 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) ACACAGGCGAGAAGCCCTTTG 0.647 NA 10 52 0 0 0 0 ADAM15 8751 broad.mit.edu 37 1 155026830 155026830 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:155026830G>C uc001fgr.1 + 6 561 c.460G>C c.(460-462)GAG>CAG p.E154Q ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_RNA|ADAM15_uc010pet.1_Missense_Mutation_p.E138Q|ADAM15_uc010peu.1_Missense_Mutation_p.E171Q|ADAM15_uc001fgt.1_Missense_Mutation_p.E154Q|ADAM15_uc010pev.1_Missense_Mutation_p.E164Q|ADAM15_uc001fgs.1_Missense_Mutation_p.E154Q|ADAM15_uc001fgu.1_Missense_Mutation_p.E154Q|ADAM15_uc001fgw.1_Missense_Mutation_p.E154Q|ADAM15_uc001fgv.1_Missense_Mutation_p.E154Q|ADAM15_uc001fgx.1_Missense_Mutation_p.E154Q|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA NM_207197 NP_997080 Q13444 ADA15_HUMAN a disintegrin and metalloproteinase domain 15 154 angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding central_nervous_system(3)|skin(2)|ovary(1) 6 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CTATACCCTGGAGCAGGGGCC 0.547 NA 24 87 0 0 0 0 FDPS 2224 broad.mit.edu 37 1 155279943 155279943 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:155279943G>A uc001fkc.2 + 3 505 c.286G>A c.(286-288)GAG>AAG p.E96K RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.E30K|FDPS_uc001fke.2_Missense_Mutation_p.E96K|FDPS_uc001fkf.2_Missense_Mutation_p.E30K NM_002004 NP_001995 P14324 FPPS_HUMAN farnesyl diphosphate synthase isoform a 96 cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process cytosol|nucleus dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399) GGTGCTGACTGAGGATGAGAT 0.512 NA 18 64 0 0 0 0 YY1AP1 55249 broad.mit.edu 37 1 155629559 155629559 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:155629559C>T uc001fln.2 - 11 2304 c.2280G>A c.(2278-2280)CCG>CCA p.P760P YY1AP1_uc001flg.2_Silent_p.P499P|YY1AP1_uc010pgg.1_Silent_p.P599P|YY1AP1_uc010pgh.1_Silent_p.P703P|YY1AP1_uc010pgi.1_Silent_p.P852P|YY1AP1_uc001flh.2_Silent_p.P832P|YY1AP1_uc009wqt.2_Silent_p.P683P|YY1AP1_uc001flk.2_Silent_p.P703P|YY1AP1_uc001fll.2_Silent_p.P714P|YY1AP1_uc009wqv.2_Silent_p.P431P|YY1AP1_uc001flm.2_Silent_p.P703P|YY1AP1_uc001fli.2_Silent_p.P714P|YY1AP1_uc009wqu.2_Silent_p.P547P|YY1AP1_uc001flj.2_Silent_p.P694P|YY1AP1_uc009wqw.2_Silent_p.P683P|YY1AP1_uc001flo.2_Silent_p.P648P|YY1AP1_uc001flp.2_Silent_p.P714P NM_139118 NP_620829 Q9H869 YYAP1_HUMAN YY1-associated protein isoform 2 760 regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) CCTGAGGGAGCGGCTCCAGAG 0.512 NA 25 105 0 0 0 0 IFI16 3428 broad.mit.edu 37 1 159015213 159015213 + Nonsense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:159015213C>T uc010pis.1 + 7 1467 c.1288C>T c.(1288-1290)CAG>TAG p.Q430* IFI16_uc001ftg.2_Intron|IFI16_uc001fth.2_Intron|IFI16_uc010pit.1_Nonsense_Mutation_p.Q85* NM_005531 NP_005522 Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 486 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) CCACACTCCTCAGATGCCTCC 0.483 NA 12 136 0 0 0 0 LMX1A 4009 broad.mit.edu 37 1 165322354 165322354 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:165322354G>A uc001gcy.1 - 2 443 c.222C>T c.(220-222)TTC>TTT p.F74F LMX1A_uc001gcz.1_Silent_p.F74F NM_177398 NP_796372 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 74 LIM zinc-binding 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 all_hematologic(923;0.248) TGTCCCGGTAGAAGCAGGTGG 0.602 NA 16 91 0 0 0 0 DNM3 26052 broad.mit.edu 37 1 172348233 172348233 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:172348233C>T uc001gie.2 + 18 2145 c.1969C>T c.(1969-1971)CGC>TGC p.R657C DNM3_uc001gif.2_Missense_Mutation_p.R653C|DNM3_uc001gih.1_Missense_Mutation_p.R13C NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN dynamin 3 isoform a 663 GED. endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding breast(1) 1 GGAGACCATTCGCAACCTCGT 0.383 NA 7 35 0 0 0 0 TNN 63923 broad.mit.edu 37 1 175048789 175048789 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:175048789G>C uc001gkl.1 + 3 843 c.730G>C c.(730-732)GAC>CAC p.D244H TNN_uc010pmx.1_Missense_Mutation_p.D244H NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 244 EGF-like 3. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CGGCTTCTGTGACACGGGCGA 0.662 NA 3 15 0 0 0 0 SOAT1 6646 broad.mit.edu 37 1 179311320 179311320 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:179311320G>C uc001gml.2 + 8 915 c.852G>C c.(850-852)GAG>GAC p.E284D SOAT1_uc010pni.1_Missense_Mutation_p.E219D|SOAT1_uc001gmm.2_Missense_Mutation_p.E226D|SOAT1_uc010pnj.1_Missense_Mutation_p.E20D|SOAT1_uc010pnk.1_Missense_Mutation_p.E219D NM_003101 NP_003092 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 284 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|skin(1) 2 Ezetimibe(DB00973)|Hesperetin(DB01094) CAGCTAAGGAGAAATCAAGTA 0.254 NA 9 40 0 0 0 0 CEP350 9857 broad.mit.edu 37 1 180080147 180080147 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:180080147G>C uc001gnt.2 + 38 9588 c.9205G>C c.(9205-9207)GAG>CAG p.E3069Q CEP350_uc009wxl.2_Missense_Mutation_p.E3068Q|CEP350_uc001gnv.2_Missense_Mutation_p.E1204Q|CEP350_uc001gnw.1_Missense_Mutation_p.E826Q|CEP350_uc001gnx.1_Missense_Mutation_p.E826Q NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 3069 centrosome|nucleus|spindle ovary(4) 4 GGAGCTCCATGAGGAGGAGGC 0.413 NA 14 71 0 0 0 0 NCF2 4688 broad.mit.edu 37 1 183543724 183543724 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:183543724C>G uc001gqj.3 - 4 674 c.399G>C c.(397-399)AAG>AAC p.K133N NCF2_uc010pod.1_Intron|NCF2_uc010poe.1_Intron|NCF2_uc001gqk.3_Missense_Mutation_p.K133N NM_000433 NP_000424 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 133 TPR 3. cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding ovary(3) 3 ATTCCTCCTTCTTGGCATACA 0.438 NA 27 79 0 0 0 0 FAM129A 116496 broad.mit.edu 37 1 184787891 184787891 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:184787891C>G uc001gra.2 - 9 1248 c.1054G>C c.(1054-1056)GAG>CAG p.E352Q FAM129A_uc001grb.1_Missense_Mutation_p.E115Q|FAM129A_uc009wyh.1_Missense_Mutation_p.E180Q|FAM129A_uc009wyi.1_Missense_Mutation_p.E150Q NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN niban protein isoform 2 352 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane ovary(3)|skin(1) 4 ATGAGCTCCTCCAGGATGGAT 0.527 NA 28 189 0 0 0 0 KCNT2 343450 broad.mit.edu 37 1 196395022 196395022 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:196395022G>C uc001gtd.1 - 11 1141 c.1081C>G c.(1081-1083)CAA>GAA p.Q361E KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.Q361E|KCNT2_uc001gtf.1_Missense_Mutation_p.Q361E|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Missense_Mutation_p.Q361E|KCNT2_uc009wyv.1_Missense_Mutation_p.Q336E NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 361 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 GCTGAACCTTGAAGGTAGATA 0.403 NA 29 59 0 0 0 0 CAMSAP1L1 23271 broad.mit.edu 37 1 200801916 200801916 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:200801916G>A uc001gvl.2 + 7 1173 c.903G>A c.(901-903)TTG>TTA p.L301L CAMSAP1L1_uc001gvk.2_Silent_p.L290L|CAMSAP1L1_uc001gvm.2_Silent_p.L290L NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 301 CH. cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 AAGAATACTTGAACCAGTGTT 0.323 NA 19 74 0 0 0 0 IRF6 3664 broad.mit.edu 37 1 209969798 209969798 + Missense_Mutation SNP C C G rs121434224 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:209969798C>G uc001hhq.1 - 4 537 c.274G>C c.(274-276)GAA>CAA p.E92Q IRF6_uc010psm.1_5'UTR|IRF6_uc009xct.1_Missense_Mutation_p.E92Q NM_006147 NP_006138 O14896 IRF6_HUMAN interferon regulatory factor 6 92 IRF tryptophan pentad repeat. cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0351) AGGTTGAATTCTCTGCTCTTA 0.532 NA HNSCC(57;0.16) 21 41 0 0 0 0 TATDN3 128387 broad.mit.edu 37 1 212977943 212977943 + Missense_Mutation SNP T T C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:212977943T>C uc001hjo.2 + 7 531 c.437T>C c.(436-438)GTG>GCG p.V146A TATDN3_uc010ptj.1_Missense_Mutation_p.V146A|TATDN3_uc010ptk.1_Missense_Mutation_p.V146A|TATDN3_uc001hjp.2_Missense_Mutation_p.V146A|TATDN3_uc010ptl.1_Missense_Mutation_p.V125A|TATDN3_uc010ptm.1_Missense_Mutation_p.V94A NM_001042552 NP_001036017 Q17R31 TATD3_HUMAN TatD DNase domain containing 3 isoform 1 146 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104) AACAGAAATGTGCACTCACGC 0.338 NA 6 39 0 0 0 0 C1orf124 83932 broad.mit.edu 37 1 231489093 231489093 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:231489093G>A uc001hur.2 + 5 1904 c.1456G>A c.(1456-1458)GAA>AAA p.E486K C1orf124_uc001hus.2_3'UTR|C1orf124_uc001hut.2_3'UTR NM_032018 NP_114407 Q9H040 CA124_HUMAN hypothetical protein LOC83932 isoform a 486 DNA repair nuclear speck DNA binding|metal ion binding 0 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) AGTCAAAAGCGAAGAAAGTCT 0.403 NA 4 34 0 0 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232649741 232649741 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:232649741G>A uc001hvg.2 - 1 1503 c.1345C>T c.(1345-1347)CAC>TAC p.H449Y NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 449 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TTTGTGCAGTGAGAGCTGAGT 0.522 NA 46 142 0 0 0 0 OR2L3 391192 broad.mit.edu 37 1 248224207 248224207 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:248224207C>G uc001idx.1 + 1 224 c.224C>G c.(223-225)ACC>AGC p.T75S OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 75 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TACATCTCCACCATTGTTCCT 0.438 NA 48 274 0 0 0 0 PGBD2 267002 broad.mit.edu 37 1 249211312 249211312 + Nonsense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:249211312C>T uc001ifh.2 + 3 676 c.529C>T c.(529-531)CAG>TAG p.Q177* PGBD2_uc001ifg.2_Intron|PGBD2_uc009xhd.2_Nonsense_Mutation_p.Q174* NM_170725 NP_733843 Q6P3X8 PGBD2_HUMAN hypothetical protein LOC267002 isoform a 177 ovary(1) 1 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TCTTACGGCTCAGGAATTGAA 0.368 NA 20 120 0 0 0 0 DIP2C 22982 broad.mit.edu 37 10 436786 436786 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:436786C>G uc001ifp.2 - 11 1368 c.1278G>C c.(1276-1278)CAG>CAC p.Q426H DIP2C_uc009xhj.1_Missense_Mutation_p.Q122H NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C 426 nucleus catalytic activity|transcription factor binding breast(4)|ovary(2)|large_intestine(1) 7 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) AGAAACCTATCTGCTGGCTCC 0.562 NA 34 121 0 0 0 0 NET1 10276 broad.mit.edu 37 10 5495245 5495245 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:5495245C>T uc001iia.2 + 7 765 c.627C>T c.(625-627)ATC>ATT p.I209I NET1_uc010qar.1_Silent_p.I28I|NET1_uc001iib.2_Silent_p.I155I|NET1_uc010qas.1_Silent_p.I28I NM_001047160 NP_001040625 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming gene 1 isoform 209 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(1) 1 AGTTGTCCATCATGTCAGAAG 0.408 NA 49 164 0 0 0 0 FBXO18 84893 broad.mit.edu 37 10 5951160 5951160 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:5951160C>T uc001iis.2 + 5 1018 c.923C>T c.(922-924)CCC>CTC p.P308L FBXO18_uc001iir.2_Missense_Mutation_p.P234L|FBXO18_uc009xig.2_Missense_Mutation_p.P234L|FBXO18_uc001iit.2_Missense_Mutation_p.P359L NM_178150 NP_835363 Q8NFZ0 FBX18_HUMAN F-box only protein, helicase, 18 isoform 2 308 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(2)|skin(1) 3 AGTGTGGATCCCGAGAGGGTG 0.592 NA 19 67 0 0 0 0 ITIH2 3698 broad.mit.edu 37 10 7769773 7769773 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:7769773G>C uc001ijs.2 + 11 1423 c.1261G>C c.(1261-1263)GAT>CAT p.D421H NM_002216 NP_002207 P19823 ITIH2_HUMAN inter-alpha globulin inhibitor H2 polypeptide 421 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(1)|pancreas(1)|skin(1) 3 TTTGGTTTCTGATGGAGATCC 0.453 NA 15 47 0 0 0 0 CUBN 8029 broad.mit.edu 37 10 16957877 16957877 + Nonsense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:16957877G>A uc001ioo.2 - 46 7205 c.7153C>T c.(7153-7155)CAG>TAG p.Q2385* NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2385 CUB 17. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GAAGAATTCTGAAGGTTAAAG 0.413 NA 14 94 0 0 0 0 CACNB2 783 broad.mit.edu 37 10 18827162 18827162 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:18827162C>G uc001ipr.2 + 13 1416 c.1356C>G c.(1354-1356)CAC>CAG p.H452Q CACNB2_uc009xjz.1_Missense_Mutation_p.H202Q|CACNB2_uc001ips.2_Missense_Mutation_p.H428Q|CACNB2_uc001ipt.2_Missense_Mutation_p.H414Q|CACNB2_uc001ipu.2_Missense_Mutation_p.H424Q|CACNB2_uc001ipv.2_Missense_Mutation_p.H400Q|CACNB2_uc009xka.1_Missense_Mutation_p.H386Q|CACNB2_uc001ipw.2_Missense_Mutation_p.H359Q|CACNB2_uc001ipx.2_Missense_Mutation_p.H397Q|CACNB2_uc001ipz.2_Missense_Mutation_p.H374Q|CACNB2_uc001ipy.2_Missense_Mutation_p.H398Q|CACNB2_uc010qco.1_Missense_Mutation_p.H366Q|CACNB2_uc001iqa.2_Missense_Mutation_p.H404Q|NSUN6_uc001iqb.2_Intron NM_201596 NP_963890 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 452 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity large_intestine(1)|central_nervous_system(1)|skin(1) 3 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CCTGTGAGCACCTTGCCGACT 0.552 NA 47 134 0 0 0 0 DNAJC1 64215 broad.mit.edu 37 10 22208791 22208791 + Nonsense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:22208791G>C uc001irc.2 - 5 892 c.605C>G c.(604-606)TCA>TGA p.S202* DNAJC1_uc001ird.2_Nonsense_Mutation_p.S88* NM_022365 NP_071760 Q96KC8 DNJC1_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 1 202 Cytoplasmic (By similarity). negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding lung(1) 1 Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262) ACCGAGTTTTGATACATCCAC 0.299 NA 34 123 0 0 0 0 MYO3A 53904 broad.mit.edu 37 10 26286125 26286125 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:26286125G>C uc001isn.2 + 6 806 c.446G>C c.(445-447)AGA>ACA p.R149T MYO3A_uc009xko.1_Missense_Mutation_p.R149T|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.R149T|MYO3A_uc001ism.2_Missense_Mutation_p.R149T NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 149 Protein kinase. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 ACTATCCACAGAGATGTGAAA 0.308 NA 20 61 0 0 0 0 KIAA1462 57608 broad.mit.edu 37 10 30317643 30317643 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:30317643C>G uc001iux.2 - 2 1493 c.1434G>C c.(1432-1434)CAG>CAC p.Q478H KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.Q340H|KIAA1462_uc009xle.1_Missense_Mutation_p.Q478H NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 478 ovary(4) 4 GTATTAAGCTCTGTGGATTCC 0.572 NA 43 124 0 0 0 0 CUL2 8453 broad.mit.edu 37 10 35327992 35327992 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:35327992C>G uc001ixv.2 - 9 943 c.733G>C c.(733-735)GAT>CAT p.D245H CUL2_uc009xma.2_Missense_Mutation_p.D114H|CUL2_uc010qer.1_Missense_Mutation_p.D264H|CUL2_uc001ixw.2_Missense_Mutation_p.D245H|CUL2_uc010qes.1_Missense_Mutation_p.D182H NM_003591 NP_003582 Q13617 CUL2_HUMAN cullin 2 245 cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding ovary(3) 3 ATTTCTTCATCTTTTAATCTA 0.323 NA 10 41 0 0 0 0 MAPK8 5599 broad.mit.edu 37 10 49618178 49618178 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:49618178C>G uc009xnz.2 + 5 641 c.417C>G c.(415-417)ATC>ATG p.I139M MAPK8_uc001jgl.2_Missense_Mutation_p.I139M|MAPK8_uc001jgm.2_Missense_Mutation_p.I139M|MAPK8_uc001jgo.2_Missense_Mutation_p.I139M|MAPK8_uc009xoa.2_Missense_Mutation_p.I139M|MAPK8_uc001jgn.2_Missense_Mutation_p.I139M|MAPK8_uc010qgk.1_Missense_Mutation_p.I139M|MAPK8_uc001jgp.2_Missense_Mutation_p.I139M|MAPK8_uc001jgq.2_Missense_Mutation_p.I139M NM_139047 NP_620635 P45983 MK08_HUMAN mitogen-activated protein kinase 8 isoform JNK1 139 Protein kinase. activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|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|nucleoplasm ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1) 8 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) TGTGTGGAATCAAGCACCTTC 0.348 NA 3 145 0 0 0 0 PCDH15 65217 broad.mit.edu 37 10 55782797 55782797 + Missense_Mutation SNP C C G rs146468805 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:55782797C>G uc001jju.1 - 19 2776 c.2381G>C c.(2380-2382)GGA>GCA p.G794A PCDH15_uc010qhq.1_Missense_Mutation_p.G799A|PCDH15_uc010qhr.1_Missense_Mutation_p.G794A|PCDH15_uc010qhs.1_Missense_Mutation_p.G806A|PCDH15_uc010qht.1_Missense_Mutation_p.G801A|PCDH15_uc010qhu.1_Missense_Mutation_p.G794A|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.G794A|PCDH15_uc010qhw.1_Missense_Mutation_p.G757A|PCDH15_uc010qhx.1_Missense_Mutation_p.G723A|PCDH15_uc010qhy.1_Missense_Mutation_p.G799A|PCDH15_uc010qhz.1_Missense_Mutation_p.G794A|PCDH15_uc010qia.1_Missense_Mutation_p.G772A|PCDH15_uc010qib.1_Missense_Mutation_p.G772A|PCDH15_uc001jjw.2_Missense_Mutation_p.G794A NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 794 Extracellular (Potential).|Cadherin 7. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) GTGTACTGCTCCATCTGTTGC 0.423 NA HNSCC(58;0.16) 27 99 0 0 0 0 USP54 159195 broad.mit.edu 37 10 75335391 75335391 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:75335391G>A uc001juo.2 - 1 43 c.26C>T c.(25-27)TCA>TTA p.S9L USP54_uc001jup.2_Missense_Mutation_p.S9L|USP54_uc010qkl.1_Missense_Mutation_p.S9L NM_152586 NP_689799 Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 9 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(3)|lung(2)|kidney(1) 6 Prostate(51;0.0112) ACGACCCCCTGAAAAATAATT 0.448 NA 18 105 0 0 0 0 MYST4 23522 broad.mit.edu 37 10 76789241 76789241 + Silent SNP C C T rs147158118 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:76789241C>T uc001jwn.1 + 18 5152 c.4659C>T c.(4657-4659)AGC>AGT p.S1553S MYST4_uc001jwo.1_Silent_p.S1261S|MYST4_uc001jwp.1_Silent_p.S1370S NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic 1553 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) AGGAGAGCAGCGAACAGGACG 0.527 NA T CREBBP AML 15 110 0 0 0 0 TLL2 7093 broad.mit.edu 37 10 98146809 98146809 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:98146809G>C uc001kml.1 - 14 1979 c.1753C>G c.(1753-1755)CAC>GAC p.H585D NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 585 EGF-like 1; calcium-binding (Potential). EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871). cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CACCCGCCGTGATCTGGCCAG 0.592 NA 18 48 0 0 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98362077 98362077 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:98362077C>G uc001kmq.2 - 16 2448 c.2320G>C c.(2320-2322)GAG>CAG p.E774Q PIK3AP1_uc001kmo.2_Missense_Mutation_p.E373Q|PIK3AP1_uc001kmp.2_Missense_Mutation_p.E596Q NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 774 Pro-rich. cytoplasm|plasma membrane upper_aerodigestive_tract(3)|ovary(1)|skin(1) 5 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) GGGGGTCTCTCGAGGGACATG 0.507 NA 26 40 0 0 0 0 CRTAC1 55118 broad.mit.edu 37 10 99655057 99655057 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:99655057G>A uc001kou.1 - 11 1787 c.1431C>T c.(1429-1431)ATC>ATT p.I477I CRTAC1_uc001kov.2_Silent_p.I466I|CRTAC1_uc001kot.1_Silent_p.I267I NM_018058 NP_060528 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 precursor 477 proteinaceous extracellular matrix calcium ion binding ovary(4)|pancreas(1) 5 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) AGCCCCCGTCGATGATCCTCA 0.632 NA 18 36 0 0 0 0 POLL 27343 broad.mit.edu 37 10 103344383 103344383 + Missense_Mutation SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:103344383G>T uc001ktg.1 - 4 1633 c.867C>A c.(865-867)TTC>TTA p.F289L DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_5'Flank|POLL_uc001kth.1_Intron|POLL_uc001kti.1_Missense_Mutation_p.F289L|POLL_uc001ktj.1_Missense_Mutation_p.F289L|POLL_uc001ktf.2_Intron|POLL_uc001ktk.1_Intron|POLL_uc010qqa.1_Intron|POLL_uc010qqb.1_Intron|POLL_uc001ktm.2_Missense_Mutation_p.F289L|POLL_uc001ktl.2_Missense_Mutation_p.F201L|POLL_uc010qqc.1_Intron|POLL_uc010qqd.1_Missense_Mutation_p.S147Y NM_013274 NP_037406 Q9UGP5 DPOLL_HUMAN DNA-directed DNA polymerase lambda 289 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding 0 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) CAGGCTTATGGAAGCTCTTGA 0.562 NA DNA_polymerases_(catalytic_subunits) 14 51 1.05e-09 1.11e-09 1 0 CCDC147 159686 broad.mit.edu 37 10 106152107 106152107 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:106152107G>C uc001kyh.2 + 10 1616 c.1482G>C c.(1480-1482)GTG>GTC p.V494V NM_001008723 NP_001008723 Q5T655 CC147_HUMAN coiled-coil domain containing 147 494 Potential. ovary(2)|central_nervous_system(2)|skin(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) ATGAAGCTGTGAGATCAGACA 0.299 NA 22 117 0 0 0 0 ADRB1 153 broad.mit.edu 37 10 115804636 115804636 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:115804636C>T uc001lba.2 + 1 831 c.745C>T c.(745-747)CGC>TGC p.R249C NM_000684 NP_000675 P08588 ADRB1_HUMAN beta-1-adrenergic receptor 249 Cytoplasmic (By similarity). positive regulation of cAMP biosynthetic process integral to plasma membrane alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0124)|all cancers(201;0.0298) Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246) GCGGGTGTTCCGCGAGGCCCA 0.547 NA 10 22 0 0 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118354333 118354333 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:118354333G>C uc001lco.1 + 5 440 c.422G>C c.(421-423)CGA>CCA p.R141P PNLIPRP1_uc001lcp.2_Missense_Mutation_p.R141P|PNLIPRP1_uc009xys.1_RNA NM_006229 NP_006220 P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 precursor 141 lipid metabolic process calcium ion binding|triglyceride lipase activity ovary(1)|breast(1) 2 all cancers(201;0.0161) AACAACGTGCGAGTGGTGGGC 0.592 NA 10 62 0 0 0 0 PDZD8 118987 broad.mit.edu 37 10 119044202 119044202 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:119044202G>A uc001lde.1 - 5 2241 c.2042C>T c.(2041-2043)TCA>TTA p.S681L NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 681 intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) AATTTCTGATGATTCCCATGT 0.413 NA 12 100 0 0 0 0 TACC2 10579 broad.mit.edu 37 10 123976183 123976183 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:123976183C>G uc001lfv.2 + 11 7746 c.7386C>G c.(7384-7386)ATC>ATG p.I2462M TACC2_uc001lfw.2_Missense_Mutation_p.I608M|TACC2_uc009xzx.2_Missense_Mutation_p.I2417M|TACC2_uc010qtv.1_Missense_Mutation_p.I2466M|TACC2_uc001lfx.2_Missense_Mutation_p.I166M|TACC2_uc001lfy.2_Missense_Mutation_p.I162M|TACC2_uc001lfz.2_Missense_Mutation_p.I540M|TACC2_uc001lga.2_Missense_Mutation_p.I540M|TACC2_uc009xzy.2_Missense_Mutation_p.I552M|TACC2_uc001lgb.2_Missense_Mutation_p.I497M|TACC2_uc010qtw.1_Missense_Mutation_p.I557M NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 2462 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) CACCAGTGATCTCTGCGGTGG 0.537 NA 4 101 0 0 0 0 DOCK1 1793 broad.mit.edu 37 10 129207596 129207596 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:129207596G>A uc001ljt.2 + 42 4285 c.4221G>A c.(4219-4221)GTG>GTA p.V1407V DOCK1_uc010qun.1_Silent_p.V1428V|DOCK1_uc009yaq.2_Silent_p.V402V NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1407 DHR-2. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) GCTTCACAGTGAAGCCCAAAC 0.493 NA 12 95 0 0 0 0 EBF3 253738 broad.mit.edu 37 10 131640406 131640406 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:131640406G>A uc001lki.1 - 13 1378 c.1319C>T c.(1318-1320)TCA>TTA p.S440L NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 449 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) TGACGTCTCTGACACGTTGAC 0.612 NA 35 92 0 0 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133946815 133946815 + Splice_Site SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:133946815G>C uc001lkx.3 + 3 634 c.634_splice c.e3-1 p.M212_splice NM_001105521 NP_001098991 Janus kinase and microtubule interacting protein breast(1) 1 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) TCTCCTTGTAGATGGAGGAGA 0.537 NA 3 10 0 0 0 0 PTDSS2 81490 broad.mit.edu 37 11 479110 479110 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:479110G>C uc001lpj.2 + 4 569 c.393G>C c.(391-393)GTG>GTC p.V131V PTDSS2_uc009ybv.1_Silent_p.V131V NM_030783 NP_110410 Q9BVG9 PTSS2_HUMAN phosphatidylserine synthase 2 131 Helical; (Potential). integral to membrane 0 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735) Phosphatidylserine(DB00144) GGCTCTGCGTGAGTGTGGTCT 0.567 NA 60 236 0 0 0 0 PHRF1 57661 broad.mit.edu 37 11 605232 605232 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:605232G>A uc001lqe.2 + 11 1397 c.1266G>A c.(1264-1266)CTG>CTA p.L422L PHRF1_uc010qwc.1_Silent_p.L422L|PHRF1_uc010qwd.1_Silent_p.L421L|PHRF1_uc010qwe.1_Silent_p.L418L|PHRF1_uc009ybz.1_Silent_p.L213L|PHRF1_uc009yca.1_5'Flank NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 422 RNA polymerase binding|zinc ion binding 0 TGGGGCTGCTGAGAGCGGATA 0.597 NA 33 95 0 0 0 0 PHLDA2 7262 broad.mit.edu 37 11 2950434 2950434 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:2950434G>C uc001lxa.1 - 1 217 c.161C>G c.(160-162)TCC>TGC p.S54C NM_003311 NP_003302 Q53GA4 PHLA2_HUMAN pleckstrin homology-like domain family A member 54 PH. apoptosis cytoplasm|membrane 0 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19) CTTGAGGATGGAGTGGAAGCG 0.657 NA 8 45 0 0 0 0 DCHS1 8642 broad.mit.edu 37 11 6662141 6662141 + Missense_Mutation SNP C C T rs143767864 byFrequency TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:6662141C>T uc001mem.1 - 2 1114 c.704G>A c.(703-705)CGG>CAG p.R235Q NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 235 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGGCCCTCCGGGGGGGTGA 0.587 NA 10 145 0 0 0 0 SBF2 81846 broad.mit.edu 37 11 9875240 9875240 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:9875240C>G uc001mib.2 - 20 2521 c.2383G>C c.(2383-2385)GAG>CAG p.E795Q SBF2_uc001mif.3_Missense_Mutation_p.E551Q|uc001mig.2_Intron NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN SET binding factor 2 795 myelination cytoplasm|membrane phosphatase activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) TCATAGCTCTCAGCTACACTT 0.373 NA 18 142 0 0 0 0 MICAL2 9645 broad.mit.edu 37 11 12263802 12263802 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:12263802C>G uc001mjz.2 + 19 2667 c.2379C>G c.(2377-2379)CTC>CTG p.L793L MICAL2_uc010rch.1_Intron|MICAL2_uc001mka.2_Silent_p.L793L|MICAL2_uc010rci.1_Silent_p.L793L|MICAL2_uc001mkb.2_Intron|MICAL2_uc001mkc.2_Intron|MICAL2_uc001mkd.2_Intron|MICAL2_uc010rcj.1_Intron|MICAL2_uc001mkf.2_RNA NM_014632 NP_055447 O94851 MICA2_HUMAN microtubule associated monoxygenase, calponin 793 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding upper_aerodigestive_tract(2) 2 Epithelial(150;0.00552) TCAGAGAGCTCAAGCAAGTGT 0.562 NA 10 29 0 0 0 0 BTBD10 84280 broad.mit.edu 37 11 13427228 13427228 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:13427228C>T uc001mkz.2 - 7 1241 c.984G>A c.(982-984)CAG>CAA p.Q328Q BTBD10_uc010rcl.1_Silent_p.Q336Q|BTBD10_uc001mla.2_Silent_p.Q312Q|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Silent_p.Q280Q|BTBD10_uc010rcn.1_Silent_p.Q297Q|BTBD10_uc009ygo.2_Silent_p.Q280Q NM_032320 NP_115696 Q9BSF8 BTBDA_HUMAN K+ channel tetramerization protein 328 nucleus 0 Epithelial(150;0.0214) CTTCTCCCATCTGTGGTGGAT 0.423 NA 50 147 0 0 0 0 COPB1 1315 broad.mit.edu 37 11 14520460 14520460 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:14520460C>G uc001mli.2 - 2 322 c.15G>C c.(13-15)GAG>GAC p.E5D COPB1_uc001mlg.2_Missense_Mutation_p.E5D|COPB1_uc001mlh.2_Missense_Mutation_p.E5D|PSMA1_uc010rcp.1_RNA NM_016451 NP_057535 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 5 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity ovary(1)|central_nervous_system(1) 2 AGCATACGTTCTCAGCCGCCG 0.343 NA 12 40 0 0 0 0 PSMA1 5682 broad.mit.edu 37 11 14539457 14539457 + Nonsense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:14539457G>C uc001mlk.2 - 3 265 c.119C>G c.(118-120)TCA>TGA p.S40* PSMA1_uc001mll.2_Nonsense_Mutation_p.S46*|PSMA1_uc010rcp.1_RNA|PSMA1_uc001mlj.2_Nonsense_Mutation_p.S15*|PSMA1_uc010rcq.1_Nonsense_Mutation_p.S40* NM_002786 NP_002777 P25786 PSA1_HUMAN proteasome alpha 1 subunit isoform 2 40 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex protein binding|RNA binding|threonine-type endopeptidase activity upper_aerodigestive_tract(1)|skin(1) 2 ATGAGTTTTTGATTTCAGACC 0.318 NA 18 37 0 0 0 0 NUCB2 4925 broad.mit.edu 37 11 17333590 17333590 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:17333590G>C uc001mmw.2 + 10 1080 c.835G>C c.(835-837)GAC>CAC p.D279H NUCB2_uc001mmv.1_Missense_Mutation_p.D279H|NUCB2_uc009ygz.2_Missense_Mutation_p.D279H NM_005013 NP_005004 P80303 NUCB2_HUMAN nucleobindin 2 precursor 279 Binds to necdin (By similarity). cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane calcium ion binding|DNA binding 0 GAAAGTATATGACCCTAAAAA 0.299 NA 10 133 0 0 0 0 ANO5 203859 broad.mit.edu 37 11 22281213 22281213 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:22281213C>T uc001mqi.2 + 15 1873 c.1556C>T c.(1555-1557)TCA>TTA p.S519L ANO5_uc001mqj.2_Missense_Mutation_p.S518L NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 519 Helical; (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 CTCACAGGATCATGCTTGAAC 0.378 NA 20 61 0 0 0 0 ANO5 203859 broad.mit.edu 37 11 22301235 22301235 + Missense_Mutation SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:22301235G>T uc001mqi.2 + 22 2983 c.2666G>T c.(2665-2667)GGA>GTA p.G889V ANO5_uc001mqj.2_Missense_Mutation_p.G888V NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 889 Cytoplasmic (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 GAGAACTTGGGAATTAATTCT 0.363 NA 7 75 0.00198382 0.00203006 1 0 LRRC4C 57689 broad.mit.edu 37 11 40137420 40137420 + Missense_Mutation SNP A A T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:40137420A>T uc001mxa.1 - 2 2387 c.423T>A c.(421-423)AAT>AAA p.N141K LRRC4C_uc001mxc.1_Missense_Mutation_p.N137K|LRRC4C_uc001mxd.1_Missense_Mutation_p.N137K|LRRC4C_uc001mxb.1_Missense_Mutation_p.N137K NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 141 LRR 3. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) CAAAAGCTCCATTCGGGATGG 0.428 NA 20 62 0 0 0 0 PHF21A 51317 broad.mit.edu 37 11 45975109 45975109 + Missense_Mutation SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:45975109G>T uc001ncc.3 - 10 1685 c.1061C>A c.(1060-1062)GCA>GAA p.A354E PHF21A_uc001ncb.3_Missense_Mutation_p.A355E|PHF21A_uc009ykx.2_Missense_Mutation_p.A355E|PHF21A_uc001nce.2_Missense_Mutation_p.A355E|PHF21A_uc001nca.1_Missense_Mutation_p.A90E NM_001101802 NP_001095272 Q96BD5 PF21A_HUMAN BRAF35/HDAC2 complex isoform a 354 blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 TGGTTTGGGTGCAGCAGGTGG 0.448 NA 6 51 1.13e-05 1.17e-05 1 0 LRP4 4038 broad.mit.edu 37 11 46897369 46897369 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:46897369C>T uc001ndn.3 - 26 3831 c.3685G>A c.(3685-3687)GAT>AAT p.D1229N NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 1229 Extracellular (Potential).|LDL-receptor class B 14. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) GTGTGGGCATCGGCCCATAGC 0.597 NA 8 62 0 0 0 0 OR5AP2 338675 broad.mit.edu 37 11 56409589 56409589 + Missense_Mutation SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:56409589G>T uc001njb.1 - 1 327 c.327C>A c.(325-327)TTC>TTA p.F109L NM_001002925 NP_001002925 Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, 109 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 AGGAGCCAAAGAAGTAGAACT 0.512 NA 17 41 0.006122 0.00624123 1 0 RTN4RL2 349667 broad.mit.edu 37 11 57235099 57235099 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:57235099C>G uc010rjt.1 + 2 49 c.49C>G c.(49-51)CTC>GTC p.L17V NM_178570 NP_848665 Q86UN3 R4RL2_HUMAN reticulon 4 receptor-like 2 precursor 17 axon regeneration anchored to plasma membrane receptor activity 0 CTCGGCCTGCCTCCTGCTGAT 0.677 NA 32 105 0 0 0 0 OR5A1 219982 broad.mit.edu 37 11 59211187 59211187 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:59211187C>T uc001nnx.1 + 1 546 c.546C>T c.(544-546)TGC>TGT p.C182C NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, 182 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 ACTTCTTCTGCGACCTCCCAC 0.537 NA 73 251 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62286867 62286867 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:62286867C>G uc001ntl.2 - 5 15322 c.15022G>C c.(15022-15024)GAG>CAG p.E5008Q AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 5008 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TCAGGAGTCTCAAGGTTCAGC 0.423 NA 58 147 0 0 0 0 MACROD1 28992 broad.mit.edu 37 11 63767135 63767135 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:63767135C>T uc001nyh.2 - 6 884 c.765G>A c.(763-765)CTG>CTA p.L255L NM_014067 NP_054786 Q9BQ69 MACD1_HUMAN MACRO domain containing 1 255 Macro. 0 GCCGGTGCTCCAGCAGCAGGT 0.716 NA 4 22 0 0 0 0 FERMT3 83706 broad.mit.edu 37 11 63974990 63974990 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:63974990C>G uc001nyl.2 + 2 303 c.154C>G c.(154-156)CAG>GAG p.Q52E FERMT3_uc001nym.2_Missense_Mutation_p.Q52E NM_178443 NP_848537 Q86UX7 URP2_HUMAN fermitin family homolog 3 long form 52 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding ovary(1) 1 GATTGTGGAGCAGATCAGTGA 0.667 NA 11 61 0 0 0 0 BAD 572 broad.mit.edu 37 11 64037697 64037697 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:64037697G>A uc001nzd.2 - 4 573 c.491C>T c.(490-492)TCC>TTC p.S164F BAD_uc001nzc.2_Missense_Mutation_p.S164F|GPR137_uc009ypj.1_5'UTR NM_032989 NP_116784 Q92934 BAD_HUMAN BCL2-associated agonist of cell death 164 activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation cytosol|mitochondrial outer membrane caspase activator activity|phospholipid binding|protein kinase binding central_nervous_system(1) 1 GGAGGGGGCGGAGCTTCCCCT 0.637 NA 11 42 0 0 0 0 GPR137 56834 broad.mit.edu 37 11 64054131 64054131 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:64054131C>G uc001nzg.1 + 2 443 c.135C>G c.(133-135)CTC>CTG p.L45L BAD_uc001nzd.2_5'Flank|BAD_uc001nzc.2_5'Flank|GPR137_uc009ypj.1_Silent_p.L51L|BAD_uc009ypk.2_5'Flank|GPR137_uc010rni.1_Silent_p.L103L|GPR137_uc001nze.1_Silent_p.L45L|GPR137_uc001nzf.2_Silent_p.L45L|GPR137_uc001nzh.1_Silent_p.L45L|GPR137_uc001nzi.2_Silent_p.L45L|GPR137_uc010rnj.1_Silent_p.L45L NM_020155 NP_064540 Q96N19 G137A_HUMAN G protein-coupled receptor 137 45 Helical; (Potential). integral to membrane central_nervous_system(1) 1 ATGCCCAGCTCTGGCTGGTGC 0.627 NA 44 138 0 0 0 0 ESRRA 2101 broad.mit.edu 37 11 64082296 64082296 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:64082296G>A uc001nzq.1 + 5 832 c.655G>A c.(655-657)GAT>AAT p.D219N ESRRA_uc001nzr.1_Missense_Mutation_p.D218N|ESRRA_uc001nzs.1_Missense_Mutation_p.D219N|ESRRA_uc009ypn.1_Intron NM_004451 NP_004442 P11474 ERR1_HUMAN estrogen-related receptor alpha 219 Ligand binding domain. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding 0 CGCAGGCCCTGATGGGCACCT 0.587 NA 12 59 0 0 0 0 RASGRP2 10235 broad.mit.edu 37 11 64510267 64510267 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:64510267G>A uc009ypu.2 - 2 299 c.72C>T c.(70-72)TTC>TTT p.F24F RASGRP2_uc001oat.2_5'Flank|RASGRP2_uc001oau.2_5'Flank|RASGRP2_uc009ypv.2_Silent_p.F24F|RASGRP2_uc009ypw.2_Silent_p.F24F|RASGRP2_uc001oaw.1_Missense_Mutation_p.S327L NM_001098671 NP_001092141 Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 24 N-terminal Ras-GEF. platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity 0 GCCACTCACCGAAGGCTTCGA 0.726 NA 4 18 0 0 0 0 ATG2A 23130 broad.mit.edu 37 11 64673226 64673226 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:64673226G>A uc001obx.2 - 23 3474 c.3359C>T c.(3358-3360)TCT>TTT p.S1120F ATG2A_uc001obw.2_5'Flank NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1120 protein binding ovary(1)|central_nervous_system(1) 2 ATAGTCCACAGAGCAGGAGAA 0.632 NA 7 84 0 0 0 0 EFEMP2 30008 broad.mit.edu 37 11 65635368 65635368 + Silent SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:65635368G>T uc001ofy.3 - 10 1328 c.1134C>A c.(1132-1134)ATC>ATA p.I378I EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Silent_p.I378I NM_016938 NP_058634 O95967 FBLN4_HUMAN EGF-containing fibulin-like extracellular matrix 378 blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(159;0.169) TTCCAGCACGGATCTGAAAGG 0.547 NA 33 116 2.68e-12 2.85e-12 1 0 TSGA10IP 254187 broad.mit.edu 37 11 65727397 65727397 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:65727397G>A uc001ogk.1 + 10 1689 c.1657G>A c.(1657-1659)GAG>AAG p.E553K TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_RNA|SART1_uc009yqy.1_5'Flank|SART1_uc010rot.1_5'Flank|SART1_uc001ogl.2_5'Flank NM_152762 NP_689975 Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein 553 0 CCTGGACCCGGAGTGCAGTCC 0.562 NA 5 21 0 0 0 0 RBM4B 83759 broad.mit.edu 37 11 66436418 66436418 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:66436418G>C uc001oja.2 - 2 1426 c.757C>G c.(757-759)CAA>GAA p.Q253E RBM4B_uc001ojb.2_Missense_Mutation_p.Q253E NM_031492 NP_113680 Q9BQ04 RBM4B_HUMAN RNA binding motif protein 4B 253 Interaction with TNPO3 (By similarity). circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing nucleolus nucleotide binding|RNA binding|zinc ion binding 0 CTTTGGACTTGAGGCAGATGG 0.542 NA 4 158 0 0 0 0 RBM4B 83759 broad.mit.edu 37 11 66436492 66436492 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:66436492G>C uc001oja.2 - 2 1352 c.683C>G c.(682-684)TCT>TGT p.S228C RBM4B_uc001ojb.2_Missense_Mutation_p.S228C NM_031492 NP_113680 Q9BQ04 RBM4B_HUMAN RNA binding motif protein 4B 228 Interaction with TNPO3 (By similarity). circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing nucleolus nucleotide binding|RNA binding|zinc ion binding 0 TGCCTCATAAGAGCGGACCCG 0.537 NA 3 76 0 0 0 0 IGHMBP2 3508 broad.mit.edu 37 11 68707045 68707045 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:68707045G>A uc001ook.1 + 15 2930 c.2828G>A c.(2827-2829)AGA>AAA p.R943K IGHMBP2_uc001ool.1_Missense_Mutation_p.R567K NM_002180 NP_002171 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 943 cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GCCCGGCAGAGAATCAGCCGG 0.642 NA 16 60 0 0 0 0 PDE2A 5138 broad.mit.edu 37 11 72290599 72290599 + Silent SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:72290599G>T uc010rrc.1 - 26 2478 c.2235C>A c.(2233-2235)ATC>ATA p.I745I PDE2A_uc001oso.2_Silent_p.I724I|PDE2A_uc010rra.1_Silent_p.I738I|PDE2A_uc001osn.2_Silent_p.I489I|PDE2A_uc010rrb.1_Silent_p.I736I|PDE2A_uc010rrd.1_Silent_p.I630I NM_002599 NP_002590 O00408 PDE2A_HUMAN phosphodiesterase 2A isoform 1 745 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(2)|breast(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) AATGATCAAAGATGTTGCAGC 0.418 NA 14 70 4.75e-09 5e-09 1 0 ARHGEF17 9828 broad.mit.edu 37 11 73073674 73073674 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:73073674G>A uc001otu.2 + 14 4912 c.4891G>A c.(4891-4893)GAG>AAG p.E1631K NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1631 actin cytoskeleton organization|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 Rho guanyl-nucleotide exchange factor activity 0 CCCCCGCCCAGAGCTGGTGCC 0.687 NA 17 35 0 0 0 0 MYO7A 4647 broad.mit.edu 37 11 76891443 76891443 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:76891443G>C uc001oyb.2 + 22 2882 c.2610G>C c.(2608-2610)GAG>GAC p.E870D MYO7A_uc010rsl.1_Missense_Mutation_p.E870D|MYO7A_uc010rsm.1_Missense_Mutation_p.E859D|MYO7A_uc001oyc.2_Missense_Mutation_p.E870D|MYO7A_uc001oyd.2_Missense_Mutation_p.E210D|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.E81D NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 870 Potential. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 TCGAGGCTGAGAAAATGCGGC 0.597 NA 12 23 0 0 0 0 BIRC3 330 broad.mit.edu 37 11 102195714 102195714 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:102195714G>A uc001pgx.2 + 3 696 c.474G>A c.(472-474)ATG>ATA p.M158I NM_182962 NP_892007 Q13489 BIRC3_HUMAN baculoviral IAP repeat-containing protein 3 158 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|skin(1) 4 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0146) CTGCCTTGATGAGAAGTTCCT 0.408 NA T MALT1 MALT 60 147 0 0 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103047052 103047052 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:103047052G>C uc001pho.2 + 37 5907 c.5763G>C c.(5761-5763)CTG>CTC p.L1921L DYNC2H1_uc001phn.1_Silent_p.L1921L|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 1921 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TTGATGCACTGATAAAAGATG 0.363 NA 5 18 0 0 0 0 CASP5 838 broad.mit.edu 37 11 104871152 104871152 + Missense_Mutation SNP A A T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:104871152A>T uc010rva.1 - 6 820 c.788T>A c.(787-789)GTA>GAA p.V263E CASP5_uc010ruz.1_Missense_Mutation_p.V276E|CASP5_uc010rvb.1_Missense_Mutation_p.V205E|CASP5_uc010rvc.1_Missense_Mutation_p.V121E|CASP5_uc009yxh.2_Missense_Mutation_p.V45E|CASP5_uc010rvd.1_Missense_Mutation_p.V45E NM_004347 NP_004338 P51878 CASP5_HUMAN caspase 5 isoform a precursor 263 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) AGACATGAGTACCAAGAACGT 0.458 NA 22 81 0 0 0 0 CUL5 8065 broad.mit.edu 37 11 107975080 107975080 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:107975080C>G uc001pjv.2 + 19 2979 c.2312C>G c.(2311-2313)TCT>TGT p.S771C CUL5_uc001pju.2_RNA NM_003478 NP_003469 Q93034 CUL5_HUMAN Vasopressin-activated calcium-mobilizing 771 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding ovary(1) 1 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) AGAGATGAATCTGATATCAAC 0.308 NA 29 112 0 0 0 0 SIK3 23387 broad.mit.edu 37 11 116730297 116730297 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:116730297G>C uc001ppy.2 - 19 2167 c.2131C>G c.(2131-2133)CAA>GAA p.Q711E SIK3_uc001ppz.2_Missense_Mutation_p.Q610E|SIK3_uc001pqa.2_Missense_Mutation_p.Q711E|SIK3_uc001ppw.2_Missense_Mutation_p.Q128E|SIK3_uc001ppx.2_Missense_Mutation_p.Q149E|SIK3_uc001pqb.2_Missense_Mutation_p.Q14E NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN serine/threonine-protein kinase QSK 711 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1) 12 GGTAAGCCTTGAAACTGGGAA 0.537 NA OREG0003491 type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 64 0 0 0 0 UBE4A 9354 broad.mit.edu 37 11 118239345 118239345 + Splice_Site SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:118239345G>C uc001psw.2 + 3 251 c.122_splice c.e3-1 p.D41_splice UBE4A_uc001psv.2_Splice_Site_p.D41_splice NM_004788 NP_004779 Q14139 UBE4A_HUMAN ubiquitination factor E4A ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 5 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) TTTTCTGGCAGATGAACTCCC 0.413 NA 87 249 0 0 0 0 TRAPPC4 51399 broad.mit.edu 37 11 118892481 118892481 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:118892481G>C uc010ryo.1 + 4 731 c.466G>C c.(466-468)GTG>CTG p.V156L TRAPPC4_uc010ryp.1_Missense_Mutation_p.V102L|TRAPPC4_uc001pup.2_RNA|TRAPPC4_uc010ryq.1_Intron NM_016146 NP_057230 Q9Y296 TPPC4_HUMAN trafficking protein particle complex 4 156 dendrite development|ER to Golgi vesicle-mediated transport cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle protein binding 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243) BRCA - Breast invasive adenocarcinoma(274;7.58e-05) GATCAAGTTTGTGGTTCTAGC 0.338 NA 13 60 0 0 0 0 FAM118B 79607 broad.mit.edu 37 11 126110786 126110786 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:126110786C>G uc001qdf.2 + 4 369 c.186C>G c.(184-186)CTC>CTG p.L62L FAM118B_uc009zca.2_Silent_p.L66L|FAM118B_uc001qdg.2_Silent_p.L62L NM_024556 NP_078832 Q9BPY3 F118B_HUMAN hypothetical protein LOC79607 62 0 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784) TTCCAGCCCTCAAATCCTGGA 0.453 NA 74 256 0 0 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130275461 130275461 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:130275461G>A uc001qgg.3 - 9 3020 c.2662C>T c.(2662-2664)CCC>TCC p.P888S ADAMTS8_uc001qgf.2_Missense_Mutation_p.P369S NM_007037 NP_008968 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 888 TSP type-1 2. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) AATCACAGGGGGCACAGCTGG 0.637 NA 14 97 0 0 0 0 IQSEC3 440073 broad.mit.edu 37 12 278251 278251 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:278251C>T uc001qhw.1 + 9 2141 c.2135C>T c.(2134-2136)TCA>TTA p.S712L IQSEC3_uc001qhu.1_Missense_Mutation_p.S712L NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 1015 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) GACCCACAGTCAAAGCAAGGA 0.642 NA 32 64 0 0 0 0 VWF 7450 broad.mit.edu 37 12 6103292 6103292 + Nonsense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:6103292G>A uc001qnn.1 - 37 6584 c.6334C>T c.(6334-6336)CAG>TAG p.Q2112* VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2112 VWFD 4. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) GTCCATTCCTGAACAAGTGTT 0.542 NA 12 51 0 0 0 0 VWF 7450 broad.mit.edu 37 12 6103365 6103365 + Silent SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:6103365G>T uc001qnn.1 - 37 6511 c.6261C>A c.(6259-6261)ATC>ATA p.I2087I VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2087 VWFD 4. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) TCTCATCACAGATCCCTAGAG 0.478 NA 14 42 2.62e-11 2.78e-11 1 0 SCNN1A 6337 broad.mit.edu 37 12 6457124 6457124 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:6457124G>A uc001qnx.2 - 13 2214 c.1925C>T c.(1924-1926)CCT>CTT p.P642L SCNN1A_uc001qnv.2_Missense_Mutation_p.P342L|SCNN1A_uc001qnw.2_Missense_Mutation_p.P701L|SCNN1A_uc010sfb.1_Missense_Mutation_p.P665L NM_001038 NP_001029 P37088 SCNNA_HUMAN sodium channel, nonvoltage-gated 1 alpha isoform 642 Cytoplasmic (By similarity). excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding 0 Amiloride(DB00594)|Triamterene(DB00384) ggcataggcagggggaggggc 0.244 NA 4 9 0 0 0 0 LAG3 3902 broad.mit.edu 37 12 6887472 6887472 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:6887472G>C uc001qqt.3 + 8 1843 c.1494G>C c.(1492-1494)AAG>AAC p.K498N LAG3_uc001qqu.2_3'UTR NM_002286 NP_002277 P18627 LAG3_HUMAN lymphocyte-activation protein 3 precursor 498 Cytoplasmic (Potential). integral to membrane antigen binding|MHC class II protein binding 0 CTCAGAGCAAGATAGAGGAGC 0.313 NA 11 28 0 0 0 0 APOLD1 81575 broad.mit.edu 37 12 12940238 12940238 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:12940238G>A uc001rau.3 + 2 576 c.492G>A c.(490-492)GAG>GAA p.E164E DDX47_uc001rav.2_Intron|APOLD1_uc001raw.3_Silent_p.E133E NM_001130415 NP_001123887 Q96LR9 APLD1_HUMAN apolipoprotein L domain containing 1 isoform 1 164 angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process extracellular region|integral to membrane|plasma membrane lipid binding ovary(1) 1 Prostate(47;0.0632) BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149) AGATGCGAGAGATCCTGAGCT 0.642 NA 40 99 0 0 0 0 GSG1 83445 broad.mit.edu 37 12 13243458 13243458 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:13243458C>T uc001rbn.2 - 2 516 c.343G>A c.(343-345)GAG>AAG p.E115K GSG1_uc001rbj.2_Missense_Mutation_p.E102K|GSG1_uc001rbk.2_Missense_Mutation_p.E102K|GSG1_uc001rbl.2_Missense_Mutation_p.E102K|GSG1_uc001rbm.2_Missense_Mutation_p.E102K|GSG1_uc001rbo.2_Missense_Mutation_p.E115K|GSG1_uc001rbp.2_Missense_Mutation_p.E115K|GSG1_uc001rbq.1_Missense_Mutation_p.E115K NM_001080555 NP_001074024 Q2KHT4 GSG1_HUMAN germ cell associated 1 isoform 4 102 endoplasmic reticulum membrane|integral to membrane 0 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) ACAGTTTCCTCACAGGATAGC 0.542 NA 21 53 0 0 0 0 C12orf39 80763 broad.mit.edu 37 12 21680692 21680692 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:21680692G>C uc001rfa.1 + 4 328 c.177G>C c.(175-177)CGG>CGC p.R59R C12orf39_uc009ziv.1_RNA|C12orf39_uc009ziw.1_5'Flank NM_030572 NP_085049 Q9BT56 SPXN_HUMAN spexin precursor 59 extracellular region|nucleus|transport vesicle 0 ACCAGAGCCGGAGAAAGGACC 0.647 NA 4 10 0 0 0 0 PRPF40B 25766 broad.mit.edu 37 12 50029224 50029224 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:50029224G>A uc001rur.1 + 13 1241 c.1177G>A c.(1177-1179)GAT>AAT p.D393N PRPF40B_uc001rup.1_Missense_Mutation_p.D415N|PRPF40B_uc001ruq.1_Missense_Mutation_p.D387N|PRPF40B_uc001rus.1_Missense_Mutation_p.D336N NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Huntingtin interacting protein C isoform 1 393 mRNA processing|RNA splicing nuclear speck skin(2)|ovary(1)|pancreas(1)|kidney(1) 5 GGTTTATGATGATGTCCTCTT 0.512 NA 46 154 0 0 0 0 BIN2 51411 broad.mit.edu 37 12 51685669 51685669 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:51685669G>C uc001ryg.2 - 10 1273 c.1221C>G c.(1219-1221)ATC>ATG p.I407M BIN2_uc009zlz.2_Missense_Mutation_p.I375M|BIN2_uc001ryh.2_Missense_Mutation_p.I283M|BIN2_uc010sng.1_Missense_Mutation_p.I381M NM_016293 NP_057377 Q9UBW5 BIN2_HUMAN bridging integrator 2 407 cytoplasm protein binding ovary(1) 1 AGGTCCTCTGGATAGAGGCTC 0.587 NA 29 93 0 0 0 0 KRT2 3849 broad.mit.edu 37 12 53045411 53045411 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:53045411C>G uc001sat.2 - 1 549 c.516G>C c.(514-516)CAG>CAC p.Q172H NM_000423 NP_000414 P35908 K22E_HUMAN keratin 2 172 Head. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.19) CCTTCACATTCTGGATCTCTG 0.527 NA 41 136 0 0 0 0 HNRNPA1 3178 broad.mit.edu 37 12 54675943 54675943 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:54675943G>A uc001sfl.2 + 4 453 c.349G>A c.(349-351)GAA>AAA p.E117K CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Missense_Mutation_p.E117K|HNRNPA1_uc009zng.2_Missense_Mutation_p.E117K|HNRNPA1_uc009znh.2_Missense_Mutation_p.E117K|HNRNPA1_uc009zni.2_Missense_Mutation_p.E117K|HNRNPA1_uc001sfn.2_Missense_Mutation_p.E117K|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc001sfp.1_Missense_Mutation_p.E72K|HNRNPA1_uc009znj.1_Missense_Mutation_p.E72K NM_031157 NP_112420 P09651 ROA1_HUMAN heterogeneous nuclear ribonucleoprotein A1 117 Globular B domain.|RRM 2. interspecies interaction between organisms|mRNA transport|nuclear import catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|single-stranded DNA binding skin(2)|ovary(1) 3 AGAAGACACTGAAGAACATCA 0.378 NA 16 38 0 0 0 0 COQ10A 93058 broad.mit.edu 37 12 56664084 56664084 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:56664084G>C uc001sko.3 + 5 988 c.727G>C c.(727-729)GAG>CAG p.E243Q COQ10A_uc001skp.3_Missense_Mutation_p.E211Q|COQ10A_uc001skq.3_Missense_Mutation_p.E226Q NM_144576 NP_653177 Q96MF6 CQ10A_HUMAN coenzyme Q10 homolog A isoform a 243 mitochondrial inner membrane ovary(1) 1 GATGTTCCATGAGGTGCACCA 0.498 NA 31 96 0 0 0 0 MBD6 114785 broad.mit.edu 37 12 57919593 57919593 + Missense_Mutation SNP A A C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:57919593A>C uc001soj.1 + 6 1066 c.842A>C c.(841-843)CAC>CCC p.H281P MBD6_uc001sok.1_Missense_Mutation_p.H148P|MBD6_uc001sol.1_5'Flank NM_052897 NP_443129 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 281 Pro-rich. chromosome|nucleus chromatin binding|DNA binding central_nervous_system(3)|ovary(1) 4 CTCCCCGCCCACCCTGGTCCT 0.662 NA 6 105 0 0 0 0 DCTN2 10540 broad.mit.edu 37 12 57924487 57924487 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:57924487C>T uc001som.1 - 14 1323 c.1191G>A c.(1189-1191)AAG>AAA p.K397K DCTN2_uc009zpu.1_Silent_p.K402K|DCTN2_uc009zpv.1_Silent_p.K310K|DCTN2_uc009zpw.1_Silent_p.K310K|DCTN2_uc001soo.1_RNA|DCTN2_uc001son.1_Silent_p.K310K|DCTN2_uc001sop.1_Silent_p.K310K|DCTN2_uc001soq.1_RNA|DCTN2_uc009zpx.1_Silent_p.K373K NM_006400 NP_006391 Q13561 DCTN2_HUMAN dynactin 2 397 Potential. cell proliferation|G2/M transition of mitotic cell cycle|mitosis centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle motor activity|protein binding ovary(1) 1 TTCCCAGCTTCTTCATCCGTT 0.473 NA 11 143 0 0 0 0 XPOT 11260 broad.mit.edu 37 12 64813889 64813889 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:64813889G>A uc001ssb.2 + 7 955 c.529G>A c.(529-531)GAA>AAA p.E177K XPOT_uc009zqm.1_Missense_Mutation_p.E87K NM_007235 NP_009166 O43592 XPOT_HUMAN tRNA exportin 177 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding ovary(2) 2 GBM - Glioblastoma multiforme(28;0.0404) TACCATGAGGGAACAGTGCAT 0.363 NA 23 46 0 0 0 0 CAPS2 84698 broad.mit.edu 37 12 75692498 75692498 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:75692498C>T uc001sxk.3 - 12 1267 c.1070G>A c.(1069-1071)GGA>GAA p.G357E CAPS2_uc001sxm.3_Missense_Mutation_p.G125E|CAPS2_uc009zsa.2_Intron|CAPS2_uc001sxi.3_Missense_Mutation_p.G93E|CAPS2_uc001sxj.3_Missense_Mutation_p.G268E|CAPS2_uc001sxl.3_Missense_Mutation_p.G338E NM_032606 NP_115995 Q9BXY5 CAYP2_HUMAN calcyphosine 2 357 calcium ion binding ovary(2) 2 GTATTGTTTTCCTTTTCTTCG 0.353 NA 13 50 0 0 0 0 SYT1 6857 broad.mit.edu 37 12 79689973 79689973 + Missense_Mutation SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:79689973G>T uc001sys.2 + 8 1270 c.599G>T c.(598-600)CGA>CTA p.R200L SYT1_uc001syt.2_Missense_Mutation_p.R200L|SYT1_uc001syu.2_Missense_Mutation_p.R197L|SYT1_uc001syv.2_Missense_Mutation_p.R200L NM_001135805 NP_001129277 P21579 SYT1_HUMAN synaptotagmin I 200 Cytoplasmic (Potential).|Phospholipid binding (Probable).|C2 1. detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity skin(3)|pancreas(2)|ovary(1) 6 AAAGTCCACCGAAAAACCCTT 0.383 NA 22 60 1.11e-09 1.17e-09 1 0 TMTC3 160418 broad.mit.edu 37 12 88547232 88547232 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:88547232G>C uc001tau.2 + 3 574 c.354G>C c.(352-354)AAG>AAC p.K118N TMTC3_uc009zsm.2_RNA NM_181783 NP_861448 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat 118 integral to membrane binding skin(1) 1 TGGACAACAAGAGTAGTGTGA 0.328 NA 19 67 0 0 0 0 DEPDC4 120863 broad.mit.edu 37 12 100657384 100657384 + Nonsense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:100657384C>A uc001thi.2 - 2 448 c.445G>T c.(445-447)GAA>TAA p.E149* DEPDC4_uc001thh.1_RNA|DEPDC4_uc001thj.1_Nonsense_Mutation_p.E82*|DEPDC4_uc009ztv.1_Nonsense_Mutation_p.E149*|DEPDC4_uc001thk.1_Intron|DEPDC4_uc001thl.1_Intron NM_152317 NP_689530 Q8N2C3 DEPD4_HUMAN DEP domain containing 4 149 DEP. intracellular signal transduction 0 TCTTCAAATTCTAATTCCTTT 0.338 NA 27 51 2.45e-14 2.61e-14 1 0 DEPDC4 120863 broad.mit.edu 37 12 100657450 100657450 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:100657450G>C uc001thi.2 - 2 382 c.379C>G c.(379-381)CTA>GTA p.L127V DEPDC4_uc001thh.1_RNA|DEPDC4_uc001thj.1_Missense_Mutation_p.L60V|DEPDC4_uc009ztv.1_Missense_Mutation_p.L127V|DEPDC4_uc001thk.1_Intron|DEPDC4_uc001thl.1_Intron NM_152317 NP_689530 Q8N2C3 DEPD4_HUMAN DEP domain containing 4 127 DEP. intracellular signal transduction 0 TGATTCATTAGAACTTGGCAA 0.358 NA 31 71 0 0 0 0 PAH 5053 broad.mit.edu 37 12 103248921 103248921 + Silent SNP G G A rs62517208 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:103248921G>A uc001tjq.1 - 7 1171 c.699C>T c.(697-699)TTC>TTT p.F233F PAH_uc010swc.1_Silent_p.F233F NM_000277 NP_000268 P00439 PH4H_HUMAN phenylalanine hydroxylase 233 F -> L (in PKU; haplotypes 2,3). catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity ovary(4) 4 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) TACTCTGCAGGAACTGAGAAA 0.488 NA 17 48 0 0 0 0 C12orf45 121053 broad.mit.edu 37 12 105388468 105388468 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:105388468G>C uc001tlb.2 + 4 585 c.552G>C c.(550-552)AAG>AAC p.K184N NM_152318 NP_689531 Q8N5I9 CL045_HUMAN hypothetical protein LOC121053 184 0 GTAAAAAAAAGAAATAGTCAA 0.368 NA 16 34 0 0 0 0 ALDH1L2 160428 broad.mit.edu 37 12 105446691 105446691 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:105446691C>T uc001tlc.2 - 11 1433 c.1306G>A c.(1306-1308)GAA>AAA p.E436K ALDH1L2_uc009zuo.2_5'UTR|ALDH1L2_uc009zup.2_RNA NM_001034173 NP_001029345 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 436 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding skin(1) 1 ACCATGATTTCATTGACCTCC 0.363 NA OREG0022073 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 55 0 0 0 0 ACACB 32 broad.mit.edu 37 12 109577263 109577263 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:109577263C>G uc001tob.2 + 2 172 c.53C>G c.(52-54)TCC>TGC p.S18C ACACB_uc001toc.2_Missense_Mutation_p.S18C NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 18 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) CTGACCTTTTCCTGGTTAAAA 0.433 NA 10 91 0 0 0 0 ACACB 32 broad.mit.edu 37 12 109629726 109629726 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:109629726C>T uc001tob.2 + 15 2489 c.2370C>T c.(2368-2370)TGC>TGT p.C790C ACACB_uc001toc.2_Silent_p.C790C NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 790 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) TCAGAACGTGCATGACAGATT 0.517 NA 6 76 0 0 0 0 TRAFD1 10906 broad.mit.edu 37 12 112590581 112590581 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:112590581G>A uc001ttp.2 + 12 1821 c.1735G>A c.(1735-1737)GAA>AAA p.E579K TRAFD1_uc001tto.2_Missense_Mutation_p.E579K NM_006700 NP_006691 O14545 TRAD1_HUMAN TRAF-type zinc finger domain containing 1 579 Poly-Glu. negative regulation of innate immune response intracellular protein binding|zinc ion binding 0 TGCAGAAGAGGAAGAGGAGGA 0.493 NA 14 72 0 0 0 0 C12orf51 283450 broad.mit.edu 37 12 112699141 112699141 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:112699141G>A uc009zwc.2 - 11 1563 c.1545C>T c.(1543-1545)CTC>CTT p.L515L C12orf51_uc010syk.1_Silent_p.L338L|C12orf51_uc001tts.2_Silent_p.L338L|C12orf51_uc001ttt.3_Silent_p.L336L NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 CACTATTTATGAGGGCAGTTG 0.458 NA 19 55 0 0 0 0 C12orf49 79794 broad.mit.edu 37 12 117175661 117175661 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:117175661C>G uc001tvz.1 - 1 183 c.45G>C c.(43-45)AAG>AAC p.K15N RNFT2_uc009zwn.2_5'Flank|RNFT2_uc001twb.3_5'Flank|RNFT2_uc001twa.3_5'Flank|C12orf49_uc009zwm.1_Missense_Mutation_p.E38Q NM_024738 NP_079014 Q9H741 CL049_HUMAN hypothetical protein LOC79794 precursor 15 extracellular region ovary(1) 1 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0281) GCACCCACCTCTTCCGCAGAA 0.592 NA 12 24 0 0 0 0 C12orf43 64897 broad.mit.edu 37 12 121448689 121448689 + Nonsense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:121448689G>A uc001tzh.1 - 3 252 c.229C>T c.(229-231)CAG>TAG p.Q77* C12orf43_uc009zxa.1_Nonsense_Mutation_p.Q108*|C12orf43_uc010szo.1_Nonsense_Mutation_p.Q35*|C12orf43_uc010szp.1_Nonsense_Mutation_p.Q77*|C12orf43_uc001tzi.1_Nonsense_Mutation_p.Q77* NM_022895 NP_075046 Q96C57 CL043_HUMAN hypothetical protein LOC64897 77 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GGGGTGGTCTGAAGCTCGTTG 0.418 NA 50 95 0 0 0 0 ZCCHC8 55596 broad.mit.edu 37 12 122962395 122962395 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:122962395G>A uc001ucn.2 - 13 1469 c.1338C>T c.(1336-1338)CTC>CTT p.L446L ZCCHC8_uc001ucl.2_Silent_p.L57L|ZCCHC8_uc001ucm.2_Silent_p.L208L|ZCCHC8_uc009zxp.2_Silent_p.L208L|ZCCHC8_uc009zxq.2_Silent_p.L208L NM_017612 NP_060082 Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 446 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) TACCTGAATCGAGCTCCATGT 0.333 NA 14 43 0 0 0 0 ZCCHC8 55596 broad.mit.edu 37 12 122967208 122967208 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:122967208C>G uc001ucn.2 - 8 837 c.706G>C c.(706-708)GAA>CAA p.E236Q ZCCHC8_uc001ucm.2_5'UTR|ZCCHC8_uc009zxp.2_5'UTR|ZCCHC8_uc009zxq.2_5'UTR NM_017612 NP_060082 Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 236 CCHC-type. catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) ATTTGGTGTTCTTCAGAACCA 0.289 NA 14 44 0 0 0 0 KNTC1 9735 broad.mit.edu 37 12 123014683 123014683 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:123014683G>C uc001ucv.2 + 2 236 c.73G>C c.(73-75)GAA>CAA p.E25Q KNTC1_uc010taf.1_Missense_Mutation_p.E25Q NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 25 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TTCAAGAAAAGAACATGGAAC 0.383 NA 34 113 0 0 0 0 SBNO1 55206 broad.mit.edu 37 12 123782660 123782660 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:123782660G>A uc010tap.1 - 30 3904 c.3904C>T c.(3904-3906)CGT>TGT p.R1302C SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Missense_Mutation_p.R1301C|SBNO1_uc010taq.1_Missense_Mutation_p.R253C NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 1302 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) TAATATGTACGGCAACGAAGA 0.413 NA 35 78 0 0 0 0 SBNO1 55206 broad.mit.edu 37 12 123810857 123810857 + Nonsense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:123810857G>A uc010tap.1 - 13 1717 c.1717C>T c.(1717-1719)CAG>TAG p.Q573* SBNO1_uc010tao.1_Nonsense_Mutation_p.Q572*|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Nonsense_Mutation_p.Q573*|SBNO1_uc001ueu.2_Nonsense_Mutation_p.Q572*|SBNO1_uc001uev.2_Nonsense_Mutation_p.Q571*|SBNO1_uc009zxy.1_Nonsense_Mutation_p.Q538* NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 573 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) GCAGCTTGCTGAAACCGCTCT 0.403 NA 20 175 0 0 0 0 GJB6 10804 broad.mit.edu 37 13 20797248 20797248 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr13:20797248C>T uc001umz.3 - 3 925 c.372G>A c.(370-372)CAG>CAA p.Q124Q GJB6_uc001unc.3_Silent_p.Q124Q|GJB6_uc001una.3_Silent_p.Q124Q|GJB6_uc001und.3_Silent_p.Q124Q|GJB6_uc001unb.3_Silent_p.Q124Q NM_006783 NP_006774 O95452 CXB6_HUMAN gap junction protein, beta 6 124 Cytoplasmic (Potential). Q -> H (in Ref. 1; CAA06611). cell communication|sensory perception of sound connexon complex|integral to membrane|intracellular membrane-bounded organelle ovary(1) 1 all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744) TCCGAACCTTCTGCTTTTTAA 0.463 NA 15 48 0 0 0 0 FLT1 2321 broad.mit.edu 37 13 29001376 29001376 + Silent SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr13:29001376C>A uc001usb.3 - 10 1641 c.1356G>T c.(1354-1356)CTG>CTT p.L452L FLT1_uc010aar.1_Silent_p.L452L|FLT1_uc001usc.3_Silent_p.L452L|FLT1_uc010tdp.1_Silent_p.L452L NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 452 Ig-like C2-type 5.|Extracellular (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) CGGTACAAGTCAGGATTTGTC 0.488 NA 18 61 9.17e-09 9.64e-09 1 0 KATNAL1 84056 broad.mit.edu 37 13 30804674 30804674 + Nonsense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr13:30804674G>A uc001uss.2 - 8 1044 c.943C>T c.(943-945)CGA>TGA p.R315* KATNAL1_uc001ust.2_Nonsense_Mutation_p.R315* NM_001014380 NP_001014402 Q9BW62 KATL1_HUMAN katanin p60 subunit A-like 1 315 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity 0 Lung SC(185;0.0257) all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213) GTTCCTCTTCGACTGCAGATA 0.348 NA 6 40 0 0 0 0 POSTN 10631 broad.mit.edu 37 13 38154776 38154776 + Missense_Mutation SNP G G A rs145787730 byFrequency TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr13:38154776G>A uc001uwo.3 - 11 1569 c.1451C>T c.(1450-1452)GCG>GTG p.A484V POSTN_uc010tet.1_Missense_Mutation_p.A12V|POSTN_uc001uwp.3_Missense_Mutation_p.A484V|POSTN_uc001uwr.2_Missense_Mutation_p.A484V|POSTN_uc001uwq.2_Missense_Mutation_p.A484V|POSTN_uc010teu.1_Missense_Mutation_p.A484V|POSTN_uc010tev.1_Missense_Mutation_p.A484V|POSTN_uc010tew.1_Missense_Mutation_p.A484V|POSTN_uc010tex.1_Missense_Mutation_p.A399V NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 484 FAS1 3. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding ovary(2) 2 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) TATGTGAATCGCACCGTTTCT 0.443 NA 22 145 0 0 0 0 FREM2 341640 broad.mit.edu 37 13 39450265 39450265 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr13:39450265G>C uc001uwv.2 + 19 8697 c.8388G>C c.(8386-8388)TGG>TGC p.W2796C NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 2796 Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TACAGCAGTGGAGCTTTGTCT 0.418 NA 27 150 0 0 0 0 NAA16 79612 broad.mit.edu 37 13 41894879 41894879 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr13:41894879C>G uc001uyf.2 + 4 645 c.321C>G c.(319-321)CTC>CTG p.L107L NAA16_uc010tfg.1_RNA|NAA16_uc001uye.3_Silent_p.L107L|NAA16_uc001uyd.3_Silent_p.L107L NM_024561 NP_078837 Q6N069 NAA16_HUMAN NMDA receptor regulated 1-like protein isoform 107 TPR 2. N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent cytoplasm|transcription factor complex binding central_nervous_system(1) 1 GAAATGCCCTCAAATTAGATA 0.358 NA 3 71 0 0 0 0 CPB2 1361 broad.mit.edu 37 13 46629983 46629983 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr13:46629983G>C uc001vaw.2 - 10 1068 c.1001C>G c.(1000-1002)TCT>TGT p.S334C uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Missense_Mutation_p.S297C NM_001872 NP_001863 Q96IY4 CBPB2_HUMAN plasma carboxypeptidase B2 isoform a 334 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) GGCTACTAGAGACTGGAAGCA 0.333 NA 16 72 0 0 0 0 RBM26 64062 broad.mit.edu 37 13 79911392 79911392 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr13:79911392G>A uc001vkz.2 - 19 2598 c.2584C>T c.(2584-2586)CAT>TAT p.H862Y RBM26_uc001vky.2_Missense_Mutation_p.H833Y|RBM26_uc001vla.2_Missense_Mutation_p.H836Y|RBM26_uc010tia.1_Missense_Mutation_p.H217Y|RBM26_uc001vkx.2_Missense_Mutation_p.H572Y NM_022118 NP_071401 Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 860 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) CCTCTTGAATGAATTCCTCTG 0.547 NA 4 100 0 0 0 0 ABCC4 10257 broad.mit.edu 37 13 95858999 95858999 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr13:95858999G>A uc001vmd.3 - 8 1067 c.948C>T c.(946-948)CTC>CTT p.L316L ABCC4_uc010afk.2_Silent_p.L316L|ABCC4_uc001vme.2_Silent_p.L316L|ABCC4_uc010tih.1_Silent_p.L241L|ABCC4_uc001vmf.2_Silent_p.L273L|ABCC4_uc010afl.1_Silent_p.L273L|ABCC4_uc010afm.1_Silent_p.L329L NM_005845 NP_005836 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C, member 4 316 ABC transmembrane type-1 1. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity central_nervous_system(3)|skin(1) 4 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TCATCCCTCTGAGGCAGGAAC 0.413 NA 21 220 0 0 0 0 RAP2A 5911 broad.mit.edu 37 13 98086811 98086811 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr13:98086811C>T uc001vnd.2 + 1 337 c.87C>T c.(85-87)ATC>ATT p.I29I NM_021033 NP_066361 P10114 RAP2A_HUMAN RAP2A, member of RAS oncogene family precursor 29 actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade recycling endosome membrane GTP binding|GTPase activity|protein binding central_nervous_system(1) 1 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.166) GCACCTTCATCGAGAAATACG 0.607 NA 18 90 0 0 0 0 TM9SF2 9375 broad.mit.edu 37 13 100204467 100204467 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr13:100204467G>A uc001voj.1 + 13 1508 c.1375G>A c.(1375-1377)GAA>AAA p.E459K TM9SF2_uc010afz.1_Missense_Mutation_p.E294K NM_004800 NP_004791 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 precursor 459 Lumenal (Potential). transport endosome membrane|integral to plasma membrane ovary(1) 1 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) CCTCTGGGGAGAAGGATCTTC 0.423 NA 22 132 0 0 0 0 PCCA 5095 broad.mit.edu 37 13 100764110 100764110 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr13:100764110C>G uc001voo.2 + 3 237 c.199C>G c.(199-201)CTT>GTT p.L67V PCCA_uc010aga.2_Missense_Mutation_p.L41V|PCCA_uc010tiz.1_Missense_Mutation_p.L67V NM_000282 NP_000273 P05165 PCCA_HUMAN propionyl-Coenzyme A carboxylase, alpha 67 Biotin carboxylation. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity skin(2) 2 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) TGATAAAATTCTTGTTGCTAA 0.303 NA 9 24 0 0 0 0 RBM23 55147 broad.mit.edu 37 14 23371581 23371581 + Missense_Mutation SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr14:23371581G>T uc001whg.2 - 11 1140 c.941C>A c.(940-942)TCT>TAT p.S314Y RBM23_uc001whh.2_Missense_Mutation_p.S298Y|RBM23_uc001whi.2_Missense_Mutation_p.S280Y|RBM23_uc010tne.1_Missense_Mutation_p.S144Y|RBM23_uc001whj.2_Missense_Mutation_p.S64Y NM_001077351 NP_001070819 Q86U06 RBM23_HUMAN RNA binding motif protein 23 isoform 1 314 RRM 2. mRNA processing nucleus nucleotide binding|RNA binding skin(1) 1 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.0128) GGCACACTCAGAATCAGAGAA 0.532 NA 15 35 3.46e-05 3.57e-05 1 0 MYH7 4625 broad.mit.edu 37 14 23884362 23884362 + Nonsense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr14:23884362C>A uc001wjx.2 - 37 5507 c.5401G>T c.(5401-5403)GAG>TAG p.E1801* NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1801 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GCGATCTGCTCGGCTTCGTCC 0.622 NA 15 103 1.36e-06 1.42e-06 1 0 PSME1 5720 broad.mit.edu 37 14 24606752 24606752 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr14:24606752G>C uc001wmg.2 + 5 364 c.270G>C c.(268-270)AAG>AAC p.K90N PSME1_uc001wmh.2_Missense_Mutation_p.K90N NM_006263 NP_006254 Q06323 PSME1_HUMAN proteasome activator subunit 1 isoform 1 90 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|proteasome activator complex ovary(1) 1 GBM - Glioblastoma multiforme(265;0.00831) ATGAAAAGAAGAAGGGGGAGG 0.483 NA 12 64 0 0 0 0 RNF31 55072 broad.mit.edu 37 14 24618025 24618025 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr14:24618025G>C uc001wmn.1 + 5 820 c.571G>C c.(571-573)GAA>CAA p.E191Q PSME2_uc001wmj.2_5'Flank|PSME2_uc001wmk.2_5'Flank|RNF31_uc001wml.1_Missense_Mutation_p.E40Q|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.E6Q|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank NM_017999 NP_060469 Q96EP0 RNF31_HUMAN ring finger protein 31 191 Polyubiquitin-binding. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00861) GCAGCTTTCAGAATTTGACCC 0.483 NA 47 240 0 0 0 0 LTB4R 1241 broad.mit.edu 37 14 24785338 24785338 + Missense_Mutation SNP T T C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr14:24785338T>C uc001wos.2 + 2 802 c.481T>C c.(481-483)TGG>CGG p.W161R LTB4R_uc010alp.2_Missense_Mutation_p.W161R|LTB4R_uc001wou.2_Missense_Mutation_p.W161R NM_001143919 NP_001137391 Q15722 LT4R1_HUMAN leukotriene B4 receptor 161 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction integral to plasma membrane nucleotide binding 0 GBM - Glioblastoma multiforme(265;0.018) AGTAGTGCCCTGGAAAACGAA 0.637 NA 3 119 0 0 0 0 KIAA0391 9692 broad.mit.edu 37 14 35593114 35593114 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr14:35593114C>T uc001wsy.1 + 2 1023 c.663C>T c.(661-663)ATC>ATT p.I221I KIAA0391_uc010tps.1_Silent_p.I126I|KIAA0391_uc001wsz.1_Silent_p.I221I|KIAA0391_uc001wta.2_RNA|KIAA0391_uc001wtb.1_Silent_p.I221I|KIAA0391_uc001wtc.1_Intron|PPP2R3C_uc001wss.2_5'Flank|PPP2R3C_uc001wst.2_5'Flank|PPP2R3C_uc010tpr.1_5'Flank|PPP2R3C_uc001wsu.2_5'Flank|PPP2R3C_uc010amn.1_5'Flank|PPP2R3C_uc001wsw.2_5'Flank|PPP2R3C_uc001wsx.1_5'Flank NM_014672 NP_055487 O15091 MRRP3_HUMAN mitochondrial RNase P protein 3 precursor 221 tRNA processing mitochondrion 0 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) GGGGATTGATCCATTCAGACA 0.373 NA 17 35 0 0 0 0 FSCB 84075 broad.mit.edu 37 14 44974621 44974621 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr14:44974621C>T uc001wvn.2 - 1 1879 c.1570G>A c.(1570-1572)GAA>AAA p.E524K NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 524 Ala-rich. cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) AGCTGAATTTCAGCAGAGGCC 0.507 NA 5 35 0 0 0 0 KLHL28 54813 broad.mit.edu 37 14 45414609 45414609 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr14:45414609C>G uc001wvq.2 - 2 769 c.523G>C c.(523-525)GAG>CAG p.E175Q KLHL28_uc001wvr.2_Missense_Mutation_p.E175Q|KLHL28_uc001wvt.3_Missense_Mutation_p.E175Q NM_017658 NP_060128 Q9NXS3 KLH28_HUMAN BTB (POZ) domain containing 5 175 ovary(1) 1 TGTGTAAGCTCAAAAAACTCT 0.383 NA 4 103 0 0 0 0 C14orf101 54916 broad.mit.edu 37 14 57082694 57082694 + Nonsense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr14:57082694C>A uc001xcm.2 + 8 1012 c.890C>A c.(889-891)TCA>TAA p.S297* C14orf101_uc001xcj.2_RNA|C14orf101_uc010aot.1_Nonsense_Mutation_p.S297*|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_5'UTR|C14orf101_uc001xco.2_5'UTR NM_017799 NP_060269 Q9NX78 CN101_HUMAN hypothetical protein LOC54916 297 integral to membrane breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(311;0.226) ACCGAACTCTCATTCAACATC 0.313 NA 38 123 6.69e-21 7.19e-21 1 0 EXOC5 10640 broad.mit.edu 37 14 57699411 57699411 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr14:57699411G>C uc001xct.2 - 10 1163 c.912C>G c.(910-912)CTC>CTG p.L304L EXOC5_uc001xcs.2_5'Flank|EXOC5_uc010trg.1_Silent_p.L249L|EXOC5_uc010trh.1_Silent_p.L239L NM_006544 NP_006535 O00471 EXOC5_HUMAN SEC10 protein 304 exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking cytoplasm ovary(2)|breast(1) 3 AGAGATTTTTGAGATATTGCT 0.254 NA 3 55 0 0 0 0 SPTB 6710 broad.mit.edu 37 14 65259779 65259779 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr14:65259779C>G uc001xht.2 - 13 2656 c.2602G>C c.(2602-2604)GAG>CAG p.E868Q SPTB_uc001xhr.2_Missense_Mutation_p.E868Q|SPTB_uc001xhs.2_Missense_Mutation_p.E868Q|SPTB_uc001xhu.2_Missense_Mutation_p.E868Q NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 868 Spectrin 6. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) AGCCACTTCTCCTTCTCTCCC 0.602 NA 19 44 0 0 0 0 SERPINA9 327657 broad.mit.edu 37 14 94935785 94935785 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr14:94935785C>G uc001ydf.2 - 2 608 c.447G>C c.(445-447)AAG>AAC p.K149N SERPINA9_uc001yde.2_Intron|SERPINA9_uc010avc.2_5'UTR|SERPINA9_uc001ydg.2_Missense_Mutation_p.K113N|SERPINA9_uc001ydh.1_Missense_Mutation_p.K149N|SERPINA9_uc001ydi.1_Missense_Mutation_p.K113N NM_175739 NP_783866 Q86WD7 SPA9_HUMAN serine (or cysteine) proteinase inhibitor, clade 131 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity lung(1)|central_nervous_system(1) 2 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) CACTTCCCATCTTCAAGGTCA 0.512 NA 30 153 0 0 0 0 MKRN3 7681 broad.mit.edu 37 15 23811327 23811327 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:23811327C>T uc001ywh.3 + 1 874 c.398C>T c.(397-399)TCG>TTG p.S133L MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.S133L NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 133 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GGTGGCGTTTCGCCGCCTGGG 0.627 NA 15 61 0 0 0 0 MTMR15 22909 broad.mit.edu 37 15 31220836 31220836 + Missense_Mutation SNP G G A rs139319999 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:31220836G>A uc001zff.2 + 11 2860 c.2569G>A c.(2569-2571)GAT>AAT p.D857N MTMR15_uc001zfe.2_Missense_Mutation_p.D462N NM_014967 NP_055782 Q9Y2M0 FAN1_HUMAN myotubularin related protein 15 isoform a 857 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding 0 all_lung(180;2.23e-09) all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168) TGGGATTCCGGATGTCTTCAG 0.557 NA Direct_reversal_of_damage|Editing_and_processing_nucleases 22 135 0 0 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40257961 40257961 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:40257961G>C uc001zkm.1 + 8 984 c.934G>C c.(934-936)GAG>CAG p.E312Q EIF2AK4_uc001zkl.2_Missense_Mutation_p.E312Q|EIF2AK4_uc010bbj.1_Missense_Mutation_p.E41Q NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 312 Protein kinase 1. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity lung(2)|stomach(1)|skin(1) 4 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) CTTGTTGTATGAGTGGGTCCT 0.408 NA 16 63 0 0 0 0 GANC 2595 broad.mit.edu 37 15 42632913 42632913 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:42632913G>A uc001zpi.2 + 18 2427 c.2113G>A c.(2113-2115)GAA>AAA p.E705K NM_198141 NP_937784 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 705 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity central_nervous_system(2) 2 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) GTTCCCTGATGAACTAAAGAC 0.239 NA 23 71 0 0 0 0 LCMT2 9836 broad.mit.edu 37 15 43620956 43620956 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:43620956C>T uc001zrg.2 - 1 1936 c.1732G>A c.(1732-1734)GAC>AAC p.D578N LCMT2_uc010udn.1_Missense_Mutation_p.D157N|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank NM_014793 NP_055608 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 578 tRNA processing methyltransferase activity|protein binding 0 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) GGCTGGATGTCTACTGACTCC 0.517 NA 35 81 0 0 0 0 LCMT2 9836 broad.mit.edu 37 15 43621022 43621022 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:43621022C>G uc001zrg.2 - 1 1870 c.1666G>C c.(1666-1668)GAG>CAG p.E556Q LCMT2_uc010udn.1_Missense_Mutation_p.E135Q|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank NM_014793 NP_055608 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 556 tRNA processing methyltransferase activity|protein binding 0 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) AATGGCTCCTCAGAAGCCCCG 0.557 NA 9 121 0 0 0 0 ZSCAN29 146050 broad.mit.edu 37 15 43653641 43653641 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:43653641C>T uc001zrk.1 - 5 2336 c.2189G>A c.(2188-2190)GGA>GAA p.G730E ZSCAN29_uc001zrj.1_Missense_Mutation_p.G610E|ZSCAN29_uc010bdf.1_3'UTR|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Missense_Mutation_p.G340E NM_152455 NP_689668 Q8IWY8 ZSC29_HUMAN zinc finger protein 690 730 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.97e-07) AGGTTTCTCTCCTGTGTGGAT 0.433 NA 15 59 0 0 0 0 DUOXA1 90527 broad.mit.edu 37 15 45415129 45415129 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:45415129G>A uc001zuq.1 - 1 113 c.84C>T c.(82-84)ATC>ATT p.I28I DUOXA1_uc010uem.1_Silent_p.I28I|DUOXA1_uc001zup.2_Silent_p.I28I|DUOXA1_uc010bec.2_Silent_p.I28I|DUOXA1_uc001zur.1_Silent_p.I28I|DUOXA1_uc010bed.1_Silent_p.I28I NM_144565 NP_653166 Q1HG43 DOXA1_HUMAN Numb-interacting protein 28 Helical; (Potential). protein transport endoplasmic reticulum membrane|integral to membrane ovary(1) 1 all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686) GAAAGATCATGATGATGCTGG 0.562 NA 30 62 0 0 0 0 SPATA5L1 79029 broad.mit.edu 37 15 45695714 45695714 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:45695714G>C uc001zve.2 + 1 1196 c.1087G>C c.(1087-1089)GAG>CAG p.E363Q uc001zvd.2_5'Flank|SPATA5L1_uc001zvf.2_RNA NM_024063 NP_076968 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 363 cytoplasm ATP binding|nucleoside-triphosphatase activity ovary(3)|skin(1) 4 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) ATTTGACCGAGAGGTGAATGG 0.662 NA 6 53 0 0 0 0 USP50 373509 broad.mit.edu 37 15 50830917 50830917 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:50830917G>A uc001zyq.3 - 5 987 c.807C>T c.(805-807)TTC>TTT p.F269F NM_203494 NP_987090 E9PP86 E9PP86_HUMAN ubiquitin specific protease 50 264 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity lung(1)|breast(1) 2 all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288) TTTTTAGGTGGAAAATAATTA 0.274 NA 6 5 0 0 0 0 LDHAL6B 92483 broad.mit.edu 37 15 59499805 59499805 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:59499805G>C uc002agb.2 + 1 764 c.666G>C c.(664-666)TTG>TTC p.L222F MYO1E_uc002aga.2_Intron NM_033195 NP_149972 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 222 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding 0 NADH(DB00157) TTCGTTTCTTGATTGGACAAA 0.438 NA 16 72 0 0 0 0 LDHAL6B 92483 broad.mit.edu 37 15 59499959 59499959 + Missense_Mutation SNP G G C rs139039522 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:59499959G>C uc002agb.2 + 1 918 c.820G>C c.(820-822)GAG>CAG p.E274Q MYO1E_uc002aga.2_Intron NM_033195 NP_149972 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 274 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding 0 NADH(DB00157) TAAAGATCCTGAGCAATGGAA 0.433 NA 9 61 0 0 0 0 PDCD7 10081 broad.mit.edu 37 15 65412134 65412134 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:65412134C>G uc002aol.2 - 3 1223 c.1168G>C c.(1168-1170)GAA>CAA p.E390Q NM_005707 NP_005698 Q8N8D1 PDCD7_HUMAN programmed cell death 7 390 Potential. apoptosis|induction of apoptosis|response to glucocorticoid stimulus U12-type spliceosomal complex 0 tgtttcttttctaattctctt 0.274 NA 12 55 0 0 0 0 MAP2K1 5604 broad.mit.edu 37 15 66781559 66781559 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:66781559C>G uc010bhq.2 + 9 1442 c.967C>G c.(967-969)CCA>GCA p.P323A MAP2K1_uc010ujp.1_Missense_Mutation_p.P301A NM_002755 NP_002746 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 323 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|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|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 GCAGCCTCCTCCAAAACTGCC 0.483 NA Cardiofaciocutaneous_syndrome 18 60 0 0 0 0 KIF23 9493 broad.mit.edu 37 15 69733362 69733362 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:69733362G>C uc002asb.2 + 18 2440 c.2323G>C c.(2323-2325)GAG>CAG p.E775Q KIF23_uc002asc.2_Intron|KIF23_uc010bii.2_Missense_Mutation_p.E665Q|KIF23_uc010ukc.1_Intron NM_138555 NP_612565 Q02241 KIF23_HUMAN kinesin family member 23 isoform 1 775 blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding 0 TGAAGGCAGGGAGGTGGTTCC 0.448 NA 5 42 0 0 0 0 PKM2 5315 broad.mit.edu 37 15 72499611 72499611 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:72499611C>T uc002atx.1 - 7 1085 c.844G>A c.(844-846)GAA>AAA p.E282K PKM2_uc002ats.1_5'Flank|PKM2_uc002att.1_Missense_Mutation_p.E48K|PKM2_uc002atu.1_Missense_Mutation_p.E48K|PKM2_uc010bit.1_Missense_Mutation_p.E287K|PKM2_uc010uki.1_Missense_Mutation_p.E356K|PKM2_uc002atv.1_Missense_Mutation_p.E317K|PKM2_uc002atw.1_Missense_Mutation_p.E282K|PKM2_uc002aty.1_Missense_Mutation_p.E282K|PKM2_uc010ukj.1_Missense_Mutation_p.E267K|PKM2_uc010ukk.1_Missense_Mutation_p.E208K|PKM2_uc010biu.1_Missense_Mutation_p.E303K|PKM2_uc002atz.1_RNA NM_182471 NP_872271 P14618 KPYM_HUMAN pyruvate kinase, muscle isoform M1 282 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) TCCAGGATTTCATCAAACCTG 0.478 NA 15 46 0 0 0 0 CELF6 60677 broad.mit.edu 37 15 72608214 72608214 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:72608214G>A uc002auh.2 - 2 627 c.317C>T c.(316-318)GCA>GTA p.A106V uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010ukm.1_Missense_Mutation_p.A106V|CELF6_uc002aui.2_Silent_p.C228C|CELF6_uc002auj.2_5'UTR NM_052840 NP_443072 Q96J87 CELF6_HUMAN bruno-like 6, RNA binding protein 106 RRM 1. mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus nucleotide binding|RNA binding large_intestine(1)|central_nervous_system(1)|skin(1) 3 CTCGTGCAGTGCACTCTGGGC 0.627 NA 7 13 0 0 0 0 TMEM202 338949 broad.mit.edu 37 15 72691140 72691140 + Silent SNP A A G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:72691140A>G uc002auq.2 + 2 228 c.228A>G c.(226-228)CCA>CCG p.P76P TMEM202_uc002aur.2_Intron NM_001080462 NP_001073931 A6NGA9 TM202_HUMAN transmembrane protein 202 76 integral to membrane central_nervous_system(1)|skin(1) 2 CCATGTCCCCACTGAACTGGG 0.527 NA 26 56 0 0 0 0 STRA6 64220 broad.mit.edu 37 15 74477352 74477352 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:74477352G>C uc002axk.2 - 13 1317 c.1135C>G c.(1135-1137)CTG>GTG p.L379V STRA6_uc002axi.2_Missense_Mutation_p.L188V|STRA6_uc010ulh.1_Missense_Mutation_p.L417V|STRA6_uc002axj.2_Missense_Mutation_p.L418V|STRA6_uc010bji.2_Missense_Mutation_p.L379V|STRA6_uc002axl.2_Missense_Mutation_p.L311V|STRA6_uc002axm.2_Missense_Mutation_p.L379V|STRA6_uc002axn.2_Missense_Mutation_p.L370V|STRA6_uc010uli.1_Missense_Mutation_p.L416V|STRA6_uc010bjj.1_RNA NM_022369 NP_071764 Q9BX79 STRA6_HUMAN stimulated by retinoic acid gene 6 homolog 379 Helical; (Potential). adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity central_nervous_system(1) 1 ATCAGGACCAGGAAGGTGAGT 0.597 NA 10 36 0 0 0 0 CYP1A2 1544 broad.mit.edu 37 15 75044189 75044189 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:75044189G>C uc002ayr.1 + 4 1100 c.1036G>C c.(1036-1038)GAG>CAG p.E346Q NM_000761 NP_000752 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, 346 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding ovary(3)|breast(1) 4 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) GATCCAGAAGGAGCTGGGTAC 0.433 NA 16 70 0 0 0 0 CYP1A2 1544 broad.mit.edu 37 15 75047131 75047131 + Splice_Site SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:75047131G>C uc002ayr.1 + 7 1318 c.1254_splice c.e7-1 p.P418_splice NM_000761 NP_000752 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding ovary(3)|breast(1) 4 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) TCCTCTTGCAGAGAGCTGTGG 0.592 NA 18 112 0 0 0 0 LINGO1 84894 broad.mit.edu 37 15 77907918 77907918 + Nonsense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:77907918C>A uc002bct.1 - 2 383 c.331G>T c.(331-333)GAG>TAG p.E111* LINGO1_uc002bcu.1_Nonsense_Mutation_p.E105* NM_032808 NP_116197 Q96FE5 LIGO1_HUMAN leucine-rich repeat neuronal 6A 111 Extracellular (Potential).|LRR 2. negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane ovary(1)|lung(1) 2 GCGCCGGGCTCCACGGCGCTC 0.617 NA 6 10 5.94e-07 6.19e-07 1 0 FAM154B 283726 broad.mit.edu 37 15 82575272 82575272 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:82575272G>C uc002bgv.2 + 3 1135 c.1066G>C c.(1066-1068)GAG>CAG p.E356Q FAM154B_uc010unr.1_Missense_Mutation_p.E341Q|FAM154B_uc010uns.1_RNA NM_001008226 NP_001008227 Q658L1 F154B_HUMAN hypothetical protein LOC283726 356 skin(2) 2 GTACTCTGTAGAGTACACACC 0.398 NA 11 59 0 0 0 0 BNC1 646 broad.mit.edu 37 15 83932315 83932315 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:83932315G>A uc002bjt.1 - 4 1776 c.1688C>T c.(1687-1689)TCA>TTA p.S563L BNC1_uc010uos.1_Missense_Mutation_p.S551L NM_001717 NP_001708 Q01954 BNC1_HUMAN basonuclin 1 563 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 GTCTTCATCTGAGCTGAGGTT 0.478 NA 25 174 0 0 0 0 ISG20 3669 broad.mit.edu 37 15 89195491 89195491 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:89195491C>T uc002bmv.1 + 3 672 c.379C>T c.(379-381)CGT>TGT p.R127C ISG20_uc002bmu.1_RNA|ISG20_uc002bmw.1_RNA|ISG20_uc010upn.1_RNA NM_002201 NP_002192 Q96AZ6 ISG20_HUMAN interferon stimulated exonuclease 127 cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway PML body 3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity 0 Lung NSC(78;0.0554)|all_lung(78;0.103) BRCA - Breast invasive adenocarcinoma(143;0.12) CCACTGCAGGCGTGTCTCCCT 0.463 NA 9 76 0 0 0 0 WDR90 197335 broad.mit.edu 37 16 706411 706411 + Nonsense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:706411C>G uc002cii.1 + 18 2130 c.2076C>G c.(2074-2076)TAC>TAG p.Y692* WDR90_uc002cig.1_3'UTR|WDR90_uc002cih.1_3'UTR|WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Nonsense_Mutation_p.Y219*|WDR90_uc002cil.1_5'Flank|WDR90_uc002cim.1_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 692 WD 5. ovary(1) 1 Hepatocellular(780;0.0218) CCCGGGTGTACCACATGCTGG 0.697 NA 5 19 0 0 0 0 RPUSD1 113000 broad.mit.edu 37 16 836894 836894 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:836894G>A uc002cka.2 - 4 678 c.444C>T c.(442-444)CTC>CTT p.L148L RPUSD1_uc002ckb.2_Silent_p.L148L|RPUSD1_uc002ckc.2_Silent_p.L19L|RPUSD1_uc002ckd.2_Missense_Mutation_p.S114L|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.3_5'Flank|CHTF18_uc002ckf.3_5'Flank|CHTF18_uc010brf.2_5'Flank|CHTF18_uc002ckg.3_5'Flank NM_058192 NP_478072 Q9UJJ7 RUSD1_HUMAN RNA pseudouridylate synthase domain containing 148 pseudouridine synthesis pseudouridine synthase activity|RNA binding 0 Hepatocellular(780;0.00335) CCAGAACCACGAGATCTGTGA 0.632 NA 31 95 0 0 0 0 TBC1D24 57465 broad.mit.edu 37 16 2547031 2547031 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:2547031C>T uc002cql.2 + 2 1022 c.882C>T c.(880-882)CTC>CTT p.L294L TBC1D24_uc002cqk.2_Silent_p.L294L|TBC1D24_uc002cqm.2_Silent_p.L294L|TBC1D24_uc010bsm.2_5'Flank NM_020705 NP_065756 Q9ULP9 TBC24_HUMAN TBC1 domain family, member 24 294 neuron projection development cytoplasm protein binding|Rab GTPase activator activity 0 CCATCCGCCTCTTCTCCCGCA 0.597 NA 21 51 0 0 0 0 ACSM2A 123876 broad.mit.edu 37 16 20487070 20487070 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:20487070G>A uc010bwe.2 + 9 1312 c.1073G>A c.(1072-1074)CGA>CAA p.R358Q ACSM2A_uc010vax.1_Missense_Mutation_p.R279Q|ACSM2A_uc002dhf.3_Missense_Mutation_p.R358Q|ACSM2A_uc002dhg.3_Missense_Mutation_p.R358Q|ACSM2A_uc010vay.1_Missense_Mutation_p.R279Q|ACSM2A_uc002dhh.3_5'UTR NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 358 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 CTGGACATCCGAGAATCCTAT 0.493 NA 27 245 0 0 0 0 USP31 57478 broad.mit.edu 37 16 23113736 23113736 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:23113736C>G uc002dll.2 - 6 1138 c.1138G>C c.(1138-1140)GAT>CAT p.D380H NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 380 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1) 10 GBM - Glioblastoma multiforme(48;0.0187) TCGTCTGTATCACAAAAGGAA 0.383 NA 29 70 0 0 0 0 KCTD13 253980 broad.mit.edu 37 16 29934634 29934634 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:29934634G>C uc002duv.2 - 2 482 c.291C>G c.(289-291)CTC>CTG p.L97L uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|KCTD13_uc010vee.1_RNA NM_178863 NP_849194 Q8WZ19 BACD1_HUMAN potassium channel tetramerisation domain 97 BTB. cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity 0 GCAGGTAATTGAGGATTGTAC 0.612 NA 8 45 0 0 0 0 ZNF764 92595 broad.mit.edu 37 16 30569449 30569449 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:30569449C>G uc002dyq.2 - 1 136 c.55G>C c.(55-57)GAG>CAG p.E19Q ZNF764_uc002dyr.1_Missense_Mutation_p.E19Q NM_033410 NP_219363 Q96H86 ZN764_HUMAN zinc finger protein 764 19 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TCCCTCCACTCGGGTCCGGCC 0.726 NA 11 11 0 0 0 0 ZNF629 23361 broad.mit.edu 37 16 30793399 30793399 + Missense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:30793399C>A uc002dzs.1 - 3 2458 c.2250G>T c.(2248-2250)AAG>AAT p.K750N NM_001080417 NP_001073886 Q9UEG4 ZN629_HUMAN zinc finger protein 629 750 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(24;0.198) CGGAAGAGCTCTTCCCCAGCT 0.617 NA 36 100 6.06e-23 6.52e-23 1 0 STX4 6810 broad.mit.edu 37 16 31049870 31049870 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:31049870G>A uc002eal.2 + 8 828 c.604G>A c.(604-606)GAG>AAG p.E202K STX4_uc002eak.2_Missense_Mutation_p.E200K|STX4_uc002eam.2_Missense_Mutation_p.E124K NM_004604 NP_004595 Q12846 STX4_HUMAN syntaxin 4 202 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 GGCCTTAAATGAGATCTCGGC 0.552 NA 20 55 0 0 0 0 PYCARD 29108 broad.mit.edu 37 16 31213912 31213912 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:31213912C>G uc010cak.2 - 1 340 c.100G>C c.(100-102)GAG>CAG p.E34Q PYCARD_uc002ebm.2_Missense_Mutation_p.E34Q NM_013258 NP_037390 Q9ULZ3 ASC_HUMAN PYD and CARD domain containing isoform a 34 DAPIN. induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway IkappaB kinase complex caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding 0 CCGTAGCCCTCGCGCAGCGGC 0.677 NA 20 31 0 0 0 0 NKD1 85407 broad.mit.edu 37 16 50666202 50666202 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:50666202G>A uc002egg.1 + 9 930 c.706G>A c.(706-708)GAC>AAC p.D236N NM_033119 NP_149110 Q969G9 NKD1_HUMAN naked cuticle homolog 1 236 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding 0 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) GTTCCAGGGTGACAGCCGCCT 0.557 NA 16 38 0 0 0 0 CCDC135 84229 broad.mit.edu 37 16 57761225 57761225 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:57761225G>A uc002emi.2 + 15 2189 c.2100G>A c.(2098-2100)CTG>CTA p.L700L CCDC135_uc002emj.2_Silent_p.L700L|CCDC135_uc002emk.2_Silent_p.L635L NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 700 Potential. cytoplasm central_nervous_system(1) 1 TGGAGATTCTGAAGCTTCGAG 0.433 NA 44 111 0 0 0 0 CES2 8824 broad.mit.edu 37 16 66975679 66975679 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:66975679G>A uc002eqr.2 + 8 2257 c.1257G>A c.(1255-1257)AGG>AGA p.R419R CES2_uc002eqq.2_Silent_p.R419R|CES2_uc002eqs.2_Silent_p.R262R NM_003869 NP_003860 O00748 EST2_HUMAN carboxylesterase 2 isoform 1 355 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) AGGTCATGAGGATCTATGATA 0.572 NA 62 177 0 0 0 0 HSD11B2 3291 broad.mit.edu 37 16 67469873 67469873 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:67469873C>T uc002etd.2 + 3 608 c.492C>T c.(490-492)CTC>CTT p.L164L NM_000196 NP_000187 P80365 DHI2_HUMAN hydroxysteroid (11-beta) dehydrogenase 2 164 glucocorticoid biosynthetic process endoplasmic reticulum|microsome 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891) NADH(DB00157) TGTGGGGCCTCGTCAACAACG 0.602 NA 22 78 0 0 0 0 NFATC3 4775 broad.mit.edu 37 16 68160439 68160439 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:68160439C>T uc002evo.1 + 3 1537 c.1327C>T c.(1327-1329)CAT>TAT p.H443Y NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.H443Y|NFATC3_uc002evm.1_Missense_Mutation_p.H443Y|NFATC3_uc002evn.1_Missense_Mutation_p.H443Y|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR NM_173165 NP_775188 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, 443 RHD. inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) TAAAACTCATCATCGAGCCCA 0.433 NA 33 71 0 0 0 0 ZFP1 162239 broad.mit.edu 37 16 75203755 75203755 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:75203755C>T uc002fdo.2 + 4 911 c.747C>T c.(745-747)TTC>TTT p.F249F ZFP1_uc002fdp.2_Silent_p.F194F|ZFP1_uc010cgt.2_Silent_p.F216F|ZFP1_uc010cgs.2_Silent_p.F194F|ZFP1_uc002fdq.2_Silent_p.F249F NM_153688 NP_710155 Q6P2D0 ZFP1_HUMAN zinc finger protein 1 homolog 249 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 GAAAAGCTTTCACCCACCAGT 0.443 NA 28 59 0 0 0 0 PKD1L2 114780 broad.mit.edu 37 16 81145966 81145966 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:81145966G>A uc002fgh.1 - 42 6786 c.6786C>T c.(6784-6786)TTC>TTT p.F2262F PKD1L2_uc002fgf.1_Silent_p.F62F|PKD1L2_uc002fgg.1_RNA NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 2262 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 CTGTCTCACTGAAGCTGATGC 0.532 NA 19 38 0 0 0 0 TRAPPC2L 51693 broad.mit.edu 37 16 88925146 88925146 + Silent SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:88925146C>A uc002fmc.2 + 2 206 c.153C>A c.(151-153)GTC>GTA p.V51V GALNS_uc002fly.3_5'Flank|GALNS_uc010cid.2_5'Flank|GALNS_uc002flz.3_5'Flank|GALNS_uc002fma.2_5'Flank|TRAPPC2L_uc010cie.2_RNA|TRAPPC2L_uc002fmd.3_Silent_p.V51V|TRAPPC2L_uc002fme.3_Silent_p.V51V|TRAPPC2L_uc002fmf.2_5'Flank|uc002fmg.2_5'Flank NM_016209 NP_057293 Q9UL33 TPC2L_HUMAN trafficking protein particle complex 2-like 51 ER to Golgi vesicle-mediated transport endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm 0 BRCA - Breast invasive adenocarcinoma(80;0.0477) AGGCCCTGGTCGACCAGAGGG 0.577 NA 15 51 0.00316338 0.00323468 1 0 ABR 29 broad.mit.edu 37 17 960284 960284 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:960284G>C uc002fsd.2 - 13 1550 c.1440C>G c.(1438-1440)TTC>TTG p.F480L ABR_uc002fse.2_Missense_Mutation_p.F434L|ABR_uc010vqg.1_Missense_Mutation_p.F262L|ABR_uc002fsg.2_Missense_Mutation_p.F443L|ABR_uc002fsh.1_Intron NM_021962 NP_068781 Q12979 ABR_HUMAN active breakpoint cluster region-related 480 C2. 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 GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) TCCTAAGCTTGAAACAGGATC 0.582 NA 82 118 0 0 0 0 TMEM95 339168 broad.mit.edu 37 17 7259355 7259355 + Silent SNP T T C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:7259355T>C uc002ggh.1 + 4 342 c.315T>C c.(313-315)TGT>TGC p.C105C TMEM95_uc002ggf.1_Silent_p.C105C|TMEM95_uc002ggg.1_Silent_p.C105C NM_198154 NP_937797 Q3KNT9 TMM95_HUMAN transmembrane protein 95 105 Extracellular (Potential). integral to membrane 0 Prostate(122;0.173) CAGCTCTCTGTCCCCCCGCCT 0.592 NA OREG0024137 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 104 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C T rs28934575 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:7577548C>T uc002gim.2 - 7 927 c.733G>A c.(733-735)GGC>AGC p.G245S TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.2_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 245 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGGTTCATGCCGCCCATGCAG 0.577 G245S(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKMEL2_SKIN) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 43 59 0 0 0 0 MYH13 8735 broad.mit.edu 37 17 10206785 10206785 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:10206785C>T uc002gmk.1 - 38 5587 c.5497G>A c.(5497-5499)GAA>AAA p.E1833K NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1833 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 CTCTTCTGTTCCACATCAAGC 0.517 NA 74 106 0 0 0 0 LRRC48 83450 broad.mit.edu 37 17 17898417 17898417 + Silent SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:17898417C>A uc010vxd.1 + 9 1195 c.816C>A c.(814-816)CTC>CTA p.L272L LRRC48_uc002gsa.2_Silent_p.L272L|LRRC48_uc010vxc.1_Silent_p.L272L|LRRC48_uc002gsb.2_Silent_p.L272L|LRRC48_uc010vxe.1_5'Flank NM_001130090 NP_001123562 Q9H069 LRC48_HUMAN leucine rich repeat containing 48 isoform a 272 cytoplasm pancreas(1) 1 all_neural(463;0.228) TCGGTGAGCTCCTTGAGACAT 0.338 NA 25 21 3.8e-18 4.07e-18 1 0 MAP2K3 5606 broad.mit.edu 37 17 21208407 21208407 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:21208407C>T uc002gys.2 + 9 1006 c.741C>T c.(739-741)GTC>GTT p.V247V MAP2K3_uc002gyt.2_Silent_p.V218V|MAP2K3_uc002gyu.2_Silent_p.V218V NM_145109 NP_659731 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 247 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|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|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) GCTACAATGTCAAGTCCGACG 0.592 NA 25 125 0 0 0 0 ATAD5 79915 broad.mit.edu 37 17 29220740 29220740 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:29220740G>A uc002hfs.1 + 21 5215 c.4869G>A c.(4867-4869)AAG>AAA p.K1623K NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1623 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) CAGAGACAAAGAAATCTATTC 0.393 NA 61 101 0 0 0 0 C17orf75 64149 broad.mit.edu 37 17 30661853 30661853 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:30661853C>G uc002hhg.2 - 7 706 c.675G>C c.(673-675)TTG>TTC p.L225F NM_022344 NP_071739 Q9HAS0 NJMU_HUMAN hypothetical protein LOC64149 225 spermatogenesis ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) GAGTGTAACTCAAAGCCTATG 0.363 NA 10 21 0 0 0 0 C17orf75 64149 broad.mit.edu 37 17 30662447 30662447 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:30662447C>G uc002hhg.2 - 6 595 c.564G>C c.(562-564)GAG>GAC p.E188D NM_022344 NP_071739 Q9HAS0 NJMU_HUMAN hypothetical protein LOC64149 188 spermatogenesis ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) TTATGTGACTCTCCAGGCCCC 0.398 NA 27 150 0 0 0 0 LIG3 3980 broad.mit.edu 37 17 33316674 33316674 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:33316674C>T uc002hik.1 + 4 989 c.881C>T c.(880-882)TCA>TTA p.S294L LIG3_uc002hii.2_Missense_Mutation_p.S294L|LIG3_uc002hij.2_Missense_Mutation_p.S294L|LIG3_uc010cth.1_Missense_Mutation_p.S303L NM_013975 NP_039269 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent isoform alpha 294 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1) 9 Ovarian(249;0.17) Bleomycin(DB00290) CGGAAAGGCTCAGCAGGAGGT 0.423 NA Other_BER_factors 21 98 0 0 0 0 PLXDC1 57125 broad.mit.edu 37 17 37264415 37264415 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:37264415C>T uc002hrg.2 - 5 765 c.553G>A c.(553-555)GGC>AGC p.G185S uc002hrf.1_3'UTR|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA NM_020405 NP_065138 Q8IUK5 PXDC1_HUMAN plexin domain containing 1 precursor 185 Extracellular (Potential). angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction ovary(1)|kidney(1)|skin(1) 3 TCGGAGTAGCCAGGGTTGAAG 0.522 NA 51 107 0 0 0 0 MSL1 339287 broad.mit.edu 37 17 38285648 38285648 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:38285648G>C uc002hub.2 + 3 559 c.540G>C c.(538-540)TTG>TTC p.L180F MSL1_uc002hua.3_Missense_Mutation_p.L118F|MSL1_uc002huc.2_Missense_Mutation_p.L118F|MSL1_uc002hud.2_5'Flank NM_001012241 NP_001012241 Q68DK7 MSL1_HUMAN hampin 381 histone H4-K16 acetylation MSL complex 0 AACGTGAATTGAGGAGCCAAG 0.473 NA 19 109 0 0 0 0 TOP2A 7153 broad.mit.edu 37 17 38567942 38567942 + Silent SNP T T C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:38567942T>C uc002huq.2 - 8 1044 c.918A>G c.(916-918)AAA>AAG p.K306K TOP2A_uc002hur.1_5'Flank NM_001067 NP_001058 P11388 TOP2A_HUMAN DNA topoisomerase II, alpha isozyme 306 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) GCTGAAAGCCTTTTTCACTCA 0.318 NA 3 93 0 0 0 0 DHX8 1659 broad.mit.edu 37 17 41599574 41599574 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:41599574C>T uc002idu.1 + 22 3496 c.3423C>T c.(3421-3423)CTC>CTT p.L1141L DHX8_uc010wig.1_Silent_p.L1141L NM_004941 NP_004932 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 1141 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1)|pancreas(1) 4 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) CCAGTGCCCTCTTCAACAGAC 0.512 NA 14 57 0 0 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43517535 43517535 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:43517535G>A uc002ija.2 - 10 3065 c.2895C>T c.(2893-2895)CTC>CTT p.L965L PLEKHM1_uc010wjm.1_Silent_p.L937L|PLEKHM1_uc002ijb.2_Silent_p.L440L|PLEKHM1_uc010wjn.1_Silent_p.L914L NM_014798 NP_055613 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M 965 intracellular signal transduction cytoplasm metal ion binding 0 Renal(3;0.0405) TTACCTGTTGGAGGTCAGCAA 0.473 NA 16 105 0 0 0 0 LPO 4025 broad.mit.edu 37 17 56342211 56342211 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:56342211C>G uc002ivt.2 + 10 1711 c.1395C>G c.(1393-1395)CGC>CGG p.R465R LPO_uc010wns.1_Silent_p.R406R|LPO_uc010dcp.2_Silent_p.R382R|LPO_uc010dcq.2_Silent_p.R136R|LPO_uc010dcr.2_Silent_p.R28R NM_006151 NP_006142 P22079 PERL_HUMAN lactoperoxidase isoform 1 preproprotein 465 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|breast(1) 2 TCGCCTTCCGCTTTGGCCACT 0.517 NA 15 103 0 0 0 0 RNF43 54894 broad.mit.edu 37 17 56440747 56440747 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:56440747C>T uc002iwf.2 - 4 2427 c.471G>A c.(469-471)CTG>CTA p.L157L RNF43_uc010wnv.1_Silent_p.L116L|RNF43_uc002iwh.3_Silent_p.L157L|RNF43_uc002iwg.3_Silent_p.L157L|RNF43_uc010dcw.2_Silent_p.L30L NM_017763 NP_060233 Q68DV7 RNF43_HUMAN ring finger protein 43 precursor 157 Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding ovary(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGGCCAGGTCAGCCCCAGCG 0.567 NA 17 165 0 0 0 0 KPNA2 3838 broad.mit.edu 37 17 66033573 66033573 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:66033573G>A uc002jgk.2 + 3 307 c.175G>A c.(175-177)GAT>AAT p.D59N KPNA2_uc002jgl.2_Missense_Mutation_p.D59N NM_002266 NP_002257 P52292 IMA2_HUMAN karyopherin alpha 2 59 IBB. DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity central_nervous_system(2) 2 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) ATTTCCTGATGATGCTACTTC 0.423 NA 65 78 0 0 0 0 ABCA10 10349 broad.mit.edu 37 17 67150091 67150091 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:67150091G>A uc010dfa.1 - 33 4725 c.3846C>T c.(3844-3846)TTC>TTT p.F1282F ABCA10_uc010wqs.1_Silent_p.F274F|ABCA10_uc010wqt.1_RNA NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 1282 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) AGTACCCCAAGAACTTGAGGC 0.478 NA 27 124 0 0 0 0 FAM104A 84923 broad.mit.edu 37 17 71228289 71228289 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:71228289G>A uc002jji.3 - 1 245 c.157C>T c.(157-159)CTT>TTT p.L53F FAM104A_uc002jjj.3_Missense_Mutation_p.L53F|C17orf80_uc010wqu.1_5'Flank|C17orf80_uc010dfj.2_5'Flank|C17orf80_uc002jjk.1_5'Flank|C17orf80_uc002jjm.3_5'Flank|C17orf80_uc002jjl.3_5'Flank NM_032837 NP_116226 Q969W3 F104A_HUMAN hypothetical protein LOC84923 isoform 2 53 0 LUSC - Lung squamous cell carcinoma(166;0.197) GCTCCGCGAAGAGAGGGAACA 0.701 NA 4 32 0 0 0 0 CD300A 11314 broad.mit.edu 37 17 72469964 72469964 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:72469964C>T uc002jkv.2 + 2 651 c.330C>T c.(328-330)CTC>CTT p.L110L CD300A_uc002jkw.2_Intron|CD300A_uc010dfr.2_Intron|CD300A_uc010dfs.2_Intron NM_007261 NP_009192 Q9UGN4 CLM8_HUMAN leukocyte membrane antigen 110 Extracellular (Potential).|Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 CACCATGGCTCCGAGACTTTC 0.562 NA 12 109 0 0 0 0 GALR2 8811 broad.mit.edu 37 17 74071153 74071153 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:74071153C>T uc002jqm.1 + 1 270 c.189C>T c.(187-189)TTC>TTT p.F63F SRP68_uc010wsu.1_5'Flank|SRP68_uc002jqk.1_5'Flank|SRP68_uc002jql.1_5'Flank NM_003857 NP_003848 O43603 GALR2_HUMAN galanin receptor 2 63 Helical; Name=2; (Potential). digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction integral to membrane|plasma membrane galanin receptor activity 0 CCAACCTGTTCATCCTTAACC 0.652 NA 11 70 0 0 0 0 GALR2 8811 broad.mit.edu 37 17 74071276 74071276 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:74071276C>T uc002jqm.1 + 1 393 c.312C>T c.(310-312)CTC>CTT p.L104L SRP68_uc010wsu.1_5'Flank|SRP68_uc002jqk.1_5'Flank|SRP68_uc002jql.1_5'Flank NM_003857 NP_003848 O43603 GALR2_HUMAN galanin receptor 2 104 Helical; Name=3; (Potential). digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction integral to membrane|plasma membrane galanin receptor activity 0 TGCACTTCCTCATCTTCCTCA 0.647 NA 14 70 0 0 0 0 ZACN 353174 broad.mit.edu 37 17 74077658 74077658 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:74077658C>G uc002jqn.2 + 7 785 c.702C>G c.(700-702)ATC>ATG p.I234M ZACN_uc002jqo.2_RNA|ZACN_uc010dgu.2_Intron|EXOC7_uc002jqp.1_3'UTR|EXOC7_uc010dgv.1_3'UTR|EXOC7_uc002jqs.2_3'UTR|EXOC7_uc002jqq.2_3'UTR|EXOC7_uc010wsw.1_3'UTR|EXOC7_uc010wsx.1_3'UTR|EXOC7_uc002jqr.2_3'UTR|EXOC7_uc010wsv.1_3'UTR NM_180990 NP_851321 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 234 Leu-rich.|Helical; Name=1; (Potential). response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity 0 TCAAGTCCATCATCGCTCTCT 0.642 NA 4 175 0 0 0 0 RHBDF2 79651 broad.mit.edu 37 17 74475233 74475233 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:74475233C>T uc002jrq.1 - 5 779 c.486G>A c.(484-486)CTG>CTA p.L162L RHBDF2_uc002jrp.1_Silent_p.L133L|RHBDF2_uc002jrr.1_Silent_p.L14L|RHBDF2_uc010wtf.1_Silent_p.L133L|RHBDF2_uc002jrs.1_Silent_p.L133L NM_024599 NP_078875 Q6PJF5 RHDF2_HUMAN rhomboid, veinlet-like 6 isoform 1 162 Cytoplasmic (Potential). negative regulation of protein secretion|protein transport|proteolysis endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity 0 TGGGGAGCTCCAGGTCACGCT 0.692 NA 11 77 0 0 0 0 SEPT9 10801 broad.mit.edu 37 17 75398526 75398526 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:75398526C>T uc002jts.3 + 3 588 c.462C>T c.(460-462)ATC>ATT p.I154I SEPT9_uc010wtk.1_Silent_p.I135I|SEPT9_uc002jtt.3_5'UTR|SEPT9_uc002jtu.3_Silent_p.I136I|SEPT9_uc002jtv.2_Silent_p.I147I|SEPT9_uc002jtw.2_5'UTR|SEPT9_uc002jtx.1_5'UTR|SEPT9_uc010wtl.1_5'Flank NM_001113491 NP_001106963 Q9UHD8 SEPT9_HUMAN septin 9 isoform a 154 cell cycle|cell division|protein heterooligomerization microtubule|perinuclear region of cytoplasm|stress fiber GTP binding|GTPase activity|protein binding|protein binding breast(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(99;0.153) AGATCACCATCGTCAAACCCC 0.706 NA 8 13 0 0 0 0 NPTX1 4884 broad.mit.edu 37 17 78449452 78449452 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:78449452C>G uc002jyp.1 - 2 669 c.511G>C c.(511-513)GAT>CAT p.D171H NM_002522 NP_002513 Q15818 NPTX1_HUMAN neuronal pentraxin I precursor 171 central nervous system development|synaptic transmission|transport transport vesicle metal ion binding 0 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487) TCCAGCTCATCGATCTTGCTC 0.637 NA 17 48 0 0 0 0 AATK 9625 broad.mit.edu 37 17 79094803 79094803 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:79094803C>T uc010dia.2 - 11 3013 c.2933G>A c.(2932-2934)CGG>CAG p.R978Q AATK_uc010dhz.2_Intron NM_001080395 NP_001073864 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 978 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1) 9 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GGTGGAGAGCCGTGTCTCGGG 0.652 NA 4 24 0 0 0 0 FASN 2194 broad.mit.edu 37 17 80054216 80054216 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:80054216C>T uc002kdu.2 - 2 223 c.106G>A c.(106-108)GAT>AAT p.D36N NM_004104 NP_004095 P49327 FAS_HUMAN fatty acid synthase 36 Beta-ketoacyl synthase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CGACGGTCATCGTCCGTGACC 0.632 NA 12 92 0 0 0 0 CCDC57 284001 broad.mit.edu 37 17 80141798 80141798 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:80141798C>T uc002kdz.1 - 9 1418 c.1063G>A c.(1063-1065)GAT>AAT p.D355N CCDC57_uc002kdx.1_Missense_Mutation_p.D355N|CCDC57_uc010dik.1_5'UTR NM_198082 NP_932348 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 355 Potential. ovary(2) 2 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) GTTGATGCATCTTCACGAAGT 0.453 NA 24 32 0 0 0 0 LRRC30 339291 broad.mit.edu 37 18 7232012 7232012 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr18:7232012C>G uc010wzk.1 + 1 876 c.876C>G c.(874-876)TTC>TTG p.F292L NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 292 ovary(1)|liver(1) 2 AGATGCTCTTCGGCTACCTGA 0.587 NA 66 137 0 0 0 0 ROCK1 6093 broad.mit.edu 37 18 18566941 18566941 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr18:18566941C>G uc002kte.2 - 19 3215 c.2274G>C c.(2272-2274)TTG>TTC p.L758F NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 758 Glu-rich. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) TATTTCCAGTCAAATGTTCTA 0.368 NA 8 111 0 0 0 0 ROCK1 6093 broad.mit.edu 37 18 18586476 18586476 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr18:18586476G>A uc002kte.2 - 16 2662 c.1721C>T c.(1720-1722)TCA>TTA p.S574L NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 574 Interaction with FHOD1.|Potential. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) CTGACTAATTGACTTGCTCAT 0.383 NA 44 121 0 0 0 0 ZNF521 25925 broad.mit.edu 37 18 22805754 22805754 + Nonsense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr18:22805754G>A uc002kvk.2 - 4 2375 c.2128C>T c.(2128-2130)CAG>TAG p.Q710* ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Nonsense_Mutation_p.Q710*|ZNF521_uc002kvl.2_Nonsense_Mutation_p.Q490* NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 710 C2H2-type 16. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) AGGTGTTTCTGAAGGTCATCC 0.443 NA T PAX5 ALL 24 101 0 0 0 0 ZNF397OS 100101467 broad.mit.edu 37 18 32843968 32843968 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr18:32843968C>G uc002kym.2 - 2 577 c.349G>C c.(349-351)GAG>CAG p.E117Q ZNF397_uc010dmr.2_Intron|ZNF397OS_uc010xce.1_Missense_Mutation_p.E117Q|ZNF397OS_uc002kyn.1_Missense_Mutation_p.E117Q NM_001112734 NP_001106205 Q86W11 ZSC30_HUMAN zinc finger protein 397 opposite strand 117 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 ACAGCTTCCTCTCCATTCTCT 0.498 NA 11 70 0 0 0 0 KATNAL2 83473 broad.mit.edu 37 18 44595607 44595607 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr18:44595607C>T uc002lco.2 + 9 820 c.626C>T c.(625-627)ACA>ATA p.T209I KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lcp.3_Missense_Mutation_p.T136I NM_031303 NP_112593 Q8IYT4 KATL2_HUMAN katanin p60 subunit A-like 2 281 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1) 4 CAGCTATTTACAGGAATTCTT 0.463 NA 25 94 0 0 0 0 CTDP1 9150 broad.mit.edu 37 18 77474881 77474881 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr18:77474881C>G uc002lnh.1 + 8 1568 c.1421C>G c.(1420-1422)TCT>TGT p.S474C CTDP1_uc002lni.1_Missense_Mutation_p.S474C|CTDP1_uc010drd.1_Missense_Mutation_p.S474C NM_004715 NP_004706 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 474 Ser-rich. positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) TCCTCCGCCTCTGATGGCGAA 0.677 NA 2 4 0 0 0 0 SHC2 25759 broad.mit.edu 37 19 422154 422154 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:422154C>T uc002loq.3 - 11 1612 c.1612G>A c.(1612-1614)GAG>AAG p.E538K SHC2_uc002lop.3_Missense_Mutation_p.E279K NM_012435 NP_036567 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) 538 SH2. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol 0 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCACGCCCTCGGGGTCCACG 0.687 NA 5 10 0 0 0 0 POLRMT 5442 broad.mit.edu 37 19 621366 621366 + Nonsense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:621366C>A uc002lpf.1 - 10 2388 c.2332G>T c.(2332-2334)GAG>TAG p.E778* NM_005035 NP_005026 O00411 RPOM_HUMAN mitochondrial DNA-directed RNA polymerase 778 transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding ovary(1)|pancreas(1) 2 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TACAGCGCCTCCGCCCGCAGG 0.746 NA 4 10 0.00909568 0.00923134 1 0 MEX3D 399664 broad.mit.edu 37 19 1556393 1556393 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:1556393C>G uc010dsn.2 - 2 1125 c.1125G>C c.(1123-1125)AAG>AAC p.K375N NM_203304 NP_976049 Q86XN8 MEX3D_HUMAN ring finger and KH domain containing 1 375 mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis nucleus|perinuclear region of cytoplasm AU-rich element binding|zinc ion binding lung(1) 1 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGTTGGGGGTCTTGGCCCAGA 0.776 NA 3 9 0 0 0 0 TCF3 6929 broad.mit.edu 37 19 1621849 1621849 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:1621849C>T uc002ltr.2 - 11 1010 c.943G>A c.(943-945)GAC>AAC p.D315N TCF3_uc002lto.2_Missense_Mutation_p.D77N|TCF3_uc002ltt.3_Missense_Mutation_p.D315N|TCF3_uc002ltq.2_Missense_Mutation_p.D264N|TCF3_uc002lts.1_Missense_Mutation_p.D231N|TCF3_uc010dso.1_5'Flank NM_003200 NP_003191 P15923 TFE2_HUMAN transcription factor 3 isoform E12 315 B cell lineage commitment|B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|protein complex|transcription factor complex bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding lung(2)|breast(2)|ovary(1)|large_intestine(1)|skin(1) 7 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGAGGCTGTCGGCCCCGCTG 0.711 NA T PBX1|HLF|TFPT pre B-ALL 3 14 0 0 0 0 REXO1 57455 broad.mit.edu 37 19 1818554 1818554 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:1818554G>A uc002lua.3 - 10 3038 c.2943C>T c.(2941-2943)CTC>CTT p.L981L REXO1_uc010dsq.2_Silent_p.L290L|REXO1_uc010xgs.1_5'UTR|MIR1909_hsa-mir-1909|MI0008330_5'Flank|REXO1_uc010dsp.1_RNA NM_020695 NP_065746 Q8N1G1 REXO1_HUMAN transcription elongation factor B polypeptide 3 981 nucleus exonuclease activity|nucleic acid binding 0 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AAGAGGACACGAGGTACTCGG 0.672 NA 3 18 0 0 0 0 DIRAS1 148252 broad.mit.edu 37 19 2717417 2717417 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:2717417C>T uc002lwf.3 - 2 546 c.388G>A c.(388-390)GTG>ATG p.V130M NM_145173 NP_660156 O95057 DIRA1_HUMAN DIRAS family, GTP-binding RAS-like 1 130 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGCGTGTCCACCTCCCGCTGC 0.617 NA 15 32 0 0 0 0 MAP2K2 5605 broad.mit.edu 37 19 4099284 4099284 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:4099284G>C uc002lzk.2 - 7 1088 c.834C>G c.(832-834)ATC>ATG p.I278M MAP2K2_uc002lzj.2_Missense_Mutation_p.I88M NM_030662 NP_109587 P36507 MP2K2_HUMAN mitogen-activated protein kinase kinase 2 278 Protein kinase.|Pro-rich. activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|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|extracellular region ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) GCCGGCCAAAGATGGCCTCCA 0.697 NA Cardiofaciocutaneous_syndrome 3 13 0 0 0 0 SAFB 6294 broad.mit.edu 37 19 5664440 5664440 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:5664440G>A uc002mcf.2 + 17 2377 c.2324G>A c.(2323-2325)CGA>CAA p.R775Q SAFB_uc002mcg.2_Missense_Mutation_p.R775Q|SAFB_uc002mce.3_Missense_Mutation_p.R774Q|SAFB_uc010xir.1_Missense_Mutation_p.R774Q|SAFB_uc010xis.1_Missense_Mutation_p.R706Q|SAFB_uc010xit.1_Missense_Mutation_p.R617Q|SAFB_uc010xiu.1_Missense_Mutation_p.R574Q NM_002967 NP_002958 Q15424 SAFB1_HUMAN scaffold attachment factor B 775 Interaction with SAFB2.|Interaction with POLR2A.|Arg-rich. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding ovary(1)|liver(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) ATGGGAGAACGAGAAGGACAG 0.458 NA 5 36 0 0 0 0 DENND1C 79958 broad.mit.edu 37 19 6471307 6471307 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:6471307C>T uc002mfe.2 - 17 1351 c.1259G>A c.(1258-1260)CGA>CAA p.R420Q DENND1C_uc002mfb.2_5'UTR|DENND1C_uc002mfc.2_5'UTR|DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Missense_Mutation_p.R376Q NM_024898 NP_079174 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 420 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity large_intestine(1) 1 CTGATAGGATCGAAGGGCCCC 0.463 NA 7 11 0 0 0 0 COL5A3 50509 broad.mit.edu 37 19 10085036 10085036 + Missense_Mutation SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:10085036G>T uc002mmq.1 - 46 3477 c.3391C>A c.(3391-3393)CAG>AAG p.Q1131K NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 1131 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) TCTCCTTTCTGCCCAAAGAGG 0.542 NA 14 38 1.5e-05 1.55e-05 1 0 EIF3G 8666 broad.mit.edu 37 19 10226446 10226446 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:10226446C>G uc002mnd.2 - 9 818 c.754G>C c.(754-756)GAG>CAG p.E252Q NM_003755 NP_003746 O75821 EIF3G_HUMAN eukaryotic translation initiation factor 3, 252 RRM. cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity 0 OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05) AGGTCGGTCTCACGCGTGTCC 0.637 NA 44 87 0 0 0 0 ICAM1 3383 broad.mit.edu 37 19 10395703 10395703 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:10395703C>T uc002mnq.2 + 6 1744 c.1425C>T c.(1423-1425)CTC>CTT p.L475L ICAM1_uc010xle.1_Silent_p.L253L|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank NM_000201 NP_000192 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 precursor 475 Extracellular (Potential). adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) TGAATGTGCTCTGTGAGTGAG 0.622 NA 15 37 0 0 0 0 ICAM5 7087 broad.mit.edu 37 19 10402810 10402810 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:10402810C>T uc002mnu.3 + 4 838 c.773C>T c.(772-774)TCA>TTA p.S258L ICAM5_uc002mnv.3_Missense_Mutation_p.S133L NM_003259 NP_003250 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5 precursor 258 Extracellular (Potential).|Ig-like C2-type 3. cell-cell adhesion integral to plasma membrane breast(3) 3 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) TTTCCAGCCTCAGAGGCCAGG 0.647 NA 6 111 0 0 0 0 DOCK6 57572 broad.mit.edu 37 19 11354276 11354276 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:11354276C>T uc002mqs.3 - 11 1256 c.1215G>A c.(1213-1215)GTG>GTA p.V405V NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 405 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 CAGCGCTGCTCACGATGTTGG 0.692 NA OREG0025252 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 17 0 0 0 0 ZNF625 90589 broad.mit.edu 37 19 12256165 12256165 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:12256165C>T uc002mth.2 - 4 1218 c.868G>A c.(868-870)GAA>AAA p.E290K ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Missense_Mutation_p.E324K NM_145233 NP_660276 Q96I27 ZN625_HUMAN zinc finger protein 625 290 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CAGGGTTTTTCTCCAGTGTGA 0.428 NA 39 72 0 0 0 0 TRMT1 55621 broad.mit.edu 37 19 13226280 13226280 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:13226280C>T uc002mwj.2 - 4 704 c.454G>A c.(454-456)GAA>AAA p.E152K NACC1_uc002mwm.2_5'Flank|TRMT1_uc002mwk.2_Missense_Mutation_p.E152K|TRMT1_uc002mwl.3_Missense_Mutation_p.E152K|TRMT1_uc010xmz.1_5'UTR NM_017722 NP_060192 Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 isoform 1 152 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) TGCAGGCCTTCCTGTTGGAGT 0.587 NA 8 29 0 0 0 0 OR10H4 126541 broad.mit.edu 37 19 16060070 16060070 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:16060070G>A uc010xov.1 + 1 253 c.253G>A c.(253-255)GAT>AAT p.D85N NM_001004465 NP_001004465 Q8NGA5 O10H4_HUMAN olfactory receptor, family 10, subfamily H, 85 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 CATGCTGGCTGATCTGCTTTC 0.507 NA 6 349 0 0 0 0 ZNF486 90649 broad.mit.edu 37 19 20307969 20307969 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:20307969G>C uc002nou.2 + 4 507 c.450G>C c.(448-450)CAG>CAC p.Q150H NM_052852 NP_443084 Q96H40 ZN486_HUMAN zinc finger protein 486 150 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CAACTACCCAGAGCAAAATAT 0.303 NA 33 95 0 0 0 0 ZNF91 7644 broad.mit.edu 37 19 23544945 23544945 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:23544945G>A uc002nre.2 - 4 949 c.836C>T c.(835-837)TCA>TTA p.S279L ZNF91_uc010xrj.1_Missense_Mutation_p.S247L NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 279 C2H2-type 5. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) AGTTAGGGTTGAGGACCATAG 0.388 NA 11 83 0 0 0 0 CATSPERG 57828 broad.mit.edu 37 19 38853162 38853162 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:38853162C>T uc002oih.3 + 19 2391 c.2304C>T c.(2302-2304)TTC>TTT p.F768F CATSPERG_uc002oig.3_Silent_p.F728F|CATSPERG_uc002oif.3_Silent_p.F408F|CATSPERG_uc010efw.2_RNA NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN cation channel, sperm-associated, gamma 768 Extracellular (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane p.S768F(1) ovary(1)|skin(1) 2 AGTACAGCTTCGCCATCTTCC 0.612 NA 9 54 0 0 0 0 FCGBP 8857 broad.mit.edu 37 19 40368869 40368869 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:40368869C>T uc002omp.3 - 28 12487 c.12479G>A c.(12478-12480)GGT>GAT p.G4160D NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4160 VWFD 10. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TGTGAGCACACCGTTCACCTG 0.637 NA 25 217 0 0 0 0 GSK3A 2931 broad.mit.edu 37 19 42737444 42737444 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:42737444G>A uc002otb.1 - 7 1115 c.996C>T c.(994-996)ATC>ATT p.I332I GSK3A_uc002ota.1_Silent_p.I250I|GSK3A_uc002otc.2_RNA NM_019884 NP_063937 P49840 GSK3A_HUMAN glycogen synthase kinase 3 alpha 332 Protein kinase. insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process beta-catenin destruction complex|cytosol ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity ovary(2)|lung(2) 4 Prostate(69;0.00682) TCACCTTGATGATCTCCACCA 0.642 NA 4 10 0 0 0 0 GEMIN7 79760 broad.mit.edu 37 19 45593559 45593559 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:45593559C>T uc002pap.1 + 3 338 c.187C>T c.(187-189)CGG>TGG p.R63W uc002pas.2_5'Flank|GEMIN7_uc002paq.1_Missense_Mutation_p.R63W|GEMIN7_uc002par.1_Missense_Mutation_p.R63W NM_001007270 NP_001007271 Q9H840 GEMI7_HUMAN gemin 7 63 ncRNA metabolic process|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding ovary(1) 1 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0131) AGCCGCCCTTCGGGAGCGTTA 0.632 NA 4 57 0 0 0 0 PPM1N 147699 broad.mit.edu 37 19 46002055 46002055 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:46002055C>G uc002pce.2 + 1 325 c.325C>G c.(325-327)CGA>GGA p.R109G RTN2_uc002pcb.2_5'Flank|RTN2_uc002pcc.2_5'Flank|RTN2_uc002pcd.2_5'Flank|PPM1N_uc002pcf.2_5'Flank NM_001080401 NP_001073870 Q8N819 PPM1N_HUMAN protein phosphatase 1B-like 109 PP2C-like. magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity 0 CGGTGGGGCTCGAGCTGCCCG 0.711 NA 2 3 0 0 0 0 STRN4 29888 broad.mit.edu 37 19 47226133 47226133 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:47226133C>T uc002pfl.2 - 14 1873 c.1840G>A c.(1840-1842)GAC>AAC p.D614N STRN4_uc002pfm.2_Missense_Mutation_p.D621N|STRN4_uc010xyf.1_RNA NM_013403 NP_037535 Q9NRL3 STRN4_HUMAN zinedin isoform 1 614 WD 4. 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) AAGACGGTGTCGCCAGAGCGG 0.637 NA 29 99 0 0 0 0 SLC1A5 6510 broad.mit.edu 37 19 47278850 47278850 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:47278850C>T uc002pfs.2 - 8 2163 c.1543G>A c.(1543-1545)GAG>AAG p.E515K SLC1A5_uc010xyh.1_Missense_Mutation_p.E313K|SLC1A5_uc002pfq.2_Missense_Mutation_p.E339K|SLC1A5_uc002pfr.2_Missense_Mutation_p.E287K NM_005628 NP_005619 Q15758 AAAT_HUMAN solute carrier family 1 member 5 isoform 1 515 cellular nitrogen compound metabolic process integral to plasma membrane|melanosome|membrane fraction neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity 0 all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341) L-Asparagine(DB00174)|L-Glutamine(DB00130) TTTCCTTCCTCAGTGGGGACT 0.582 NA 53 201 0 0 0 0 EHD2 30846 broad.mit.edu 37 19 48229328 48229328 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:48229328C>T uc002phj.3 + 4 1012 c.762C>T c.(760-762)ATC>ATT p.I254I EHD2_uc010xyu.1_Silent_p.I118I|EHD2_uc010xyv.1_5'Flank NM_014601 NP_055416 Q9NZN4 EHD2_HUMAN EH-domain containing 2 254 blood coagulation|endocytic recycling nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding ovary(1)|skin(1) 2 all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537) GCGTCTACATCGGCTCCTTCT 0.697 NA 6 6 0 0 0 0 MYH14 79784 broad.mit.edu 37 19 50721024 50721024 + Silent SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:50721024G>T uc002prr.1 + 3 605 c.558G>T c.(556-558)CTG>CTT p.L186L MYH14_uc010enu.1_Silent_p.L186L|MYH14_uc002prq.1_Silent_p.L186L NM_024729 NP_079005 Q7Z406 MYH14_HUMAN myosin, heavy chain 14 isoform 2 186 Myosin head-like. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1) 1 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GGAGCATGCTGCAGGGTGAGT 0.642 NA 29 57 7.01e-11 7.41e-11 1 0 SIGLEC8 27181 broad.mit.edu 37 19 51958028 51958028 + Nonsense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:51958028G>C uc002pwt.2 - 5 1125 c.1058C>G c.(1057-1059)TCA>TGA p.S353* SIGLEC8_uc010yda.1_Nonsense_Mutation_p.S244*|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Nonsense_Mutation_p.S260* NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 precursor 353 Extracellular (Potential). cell adhesion integral to membrane sugar binding|transmembrane receptor activity ovary(2)|kidney(1)|central_nervous_system(1)|skin(1) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TACAGGTCTTGAGGTGCCTGC 0.547 NA 11 97 0 0 0 0 ZNF350 59348 broad.mit.edu 37 19 52468574 52468574 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:52468574C>G uc002pyd.2 - 5 1360 c.1132G>C c.(1132-1134)GAA>CAA p.E378Q uc002pyb.2_Intron|uc002pyc.2_Intron NM_021632 NP_067645 Q9GZX5 ZN350_HUMAN zinc finger protein 350 378 C2H2-type 7. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|transcriptional repressor complex DNA binding|protein binding|zinc ion binding breast(1) 1 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179) TTCCCACATTCACTACATTCA 0.433 NA 11 43 0 0 0 0 ZNF615 284370 broad.mit.edu 37 19 52497896 52497896 + Missense_Mutation SNP T T A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:52497896T>A uc002pye.1 - 6 725 c.433A>T c.(433-435)AAC>TAC p.N145Y ZNF615_uc002pyf.1_Missense_Mutation_p.N156Y|ZNF615_uc002pyg.1_Missense_Mutation_p.N37Y|ZNF615_uc002pyh.1_Missense_Mutation_p.N156Y|ZNF615_uc010epi.1_Missense_Mutation_p.N152Y|ZNF615_uc010ydg.1_Missense_Mutation_p.N150Y NM_198480 NP_940882 Q8N8J6 ZN615_HUMAN zinc finger protein 615 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) CTTTTCTGGTTTTCAAAACTT 0.318 NA 8 87 0 0 0 0 OSCAR 126014 broad.mit.edu 37 19 54600369 54600369 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:54600369C>G uc002qdd.2 - 4 345 c.228G>C c.(226-228)TTG>TTC p.L76F OSCAR_uc002qcy.2_Missense_Mutation_p.L55F|OSCAR_uc002qcz.2_Missense_Mutation_p.L51F|OSCAR_uc002qda.2_Missense_Mutation_p.L55F|OSCAR_uc002qdb.2_Missense_Mutation_p.L40F|OSCAR_uc010erc.2_Missense_Mutation_p.E19Q|OSCAR_uc002qdc.2_Missense_Mutation_p.L65F NM_206818 NP_996554 Q8IYS5 OSCAR_HUMAN osteoclast-associated receptor isoform 1 51 Ig-like 1. extracellular region|integral to membrane|plasma membrane receptor activity 0 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) CCCGGCATCTCAAGGTCACGT 0.592 NA 28 122 0 0 0 0 NLRP5 126206 broad.mit.edu 37 19 56539850 56539850 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:56539850G>A uc002qmj.2 + 7 2251 c.2251G>A c.(2251-2253)GAG>AAG p.E751K NLRP5_uc002qmi.2_Missense_Mutation_p.E732K NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 751 LRR 2. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TGAGTCCGCTGAGGCATGTCC 0.522 NA 58 202 0 0 0 0 USP29 57663 broad.mit.edu 37 19 57642360 57642360 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:57642360G>A uc002qny.2 + 4 2673 c.2317G>A c.(2317-2319)GAA>AAA p.E773K NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 773 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCAGTCTACAGAATTAAGACT 0.463 NA 17 24 0 0 0 0 TRIM28 10155 broad.mit.edu 37 19 59060728 59060728 + Missense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:59060728C>A uc002qtg.1 + 13 1982 c.1693C>A c.(1693-1695)CCT>ACT p.P565T TRIM28_uc010eut.1_Missense_Mutation_p.P483T|TRIM28_uc002qth.1_Missense_Mutation_p.P180T NM_005762 NP_005753 Q13263 TIF1B_HUMAN tripartite motif-containing 28 protein 565 epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) CATTGGAGCCCCTCCTACTGC 0.607 NA 53 195 6.57e-35 7.08e-35 1 0 RSAD2 91543 broad.mit.edu 37 2 7023543 7023543 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:7023543C>G uc002qyp.1 + 2 524 c.388C>G c.(388-390)CAA>GAA p.Q130E NM_080657 NP_542388 Q8WXG1 RSAD2_HUMAN radical S-adenosyl methionine domain containing 130 defense response to virus endoplasmic reticulum membrane|Golgi apparatus catalytic activity|iron-sulfur cluster binding|metal ion binding 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) OV - Ovarian serous cystadenocarcinoma(76;0.191) GCCATTTCTTCAAGACCGGGG 0.453 NA 12 88 0 0 0 0 ADAM17 6868 broad.mit.edu 37 2 9630344 9630344 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:9630344G>A uc002qzu.2 - 19 2620 c.2437C>T c.(2437-2439)CGT>TGT p.R813C IAH1_uc010yiz.1_Intron|ADAM17_uc010ewy.2_Missense_Mutation_p.R796C|ADAM17_uc010ewz.2_Missense_Mutation_p.R156C NM_003183 NP_003174 P78536 ADA17_HUMAN a disintegrin and metalloprotease domain 17 813 Cytoplasmic (Potential). B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding lung(1)|kidney(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.225) CGATTCTGACGCTGCAGTTTA 0.438 NA 5 67 0 0 0 0 TRIB2 28951 broad.mit.edu 37 2 12858450 12858450 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:12858450C>G uc002rbv.3 + 1 1453 c.17C>G c.(16-18)TCT>TGT p.S6C TRIB2_uc010yjp.1_Intron NM_021643 NP_067675 Q92519 TRIB2_HUMAN tribbles homolog 2 6 negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity stomach(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ATACACAGGTCTACCCCCATC 0.537 NA OREG0014450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 62 0 0 0 0 APOB 338 broad.mit.edu 37 2 21226113 21226113 + Missense_Mutation SNP C C T rs121918385 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:21226113C>T uc002red.2 - 29 12309 c.12181G>A c.(12181-12183)GAG>AAG p.E4061K NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 4061 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) GAAGCTGCCTCTTCTTCCCAA 0.453 NA 107 295 0 0 0 0 ATAD2B 54454 broad.mit.edu 37 2 23980730 23980730 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:23980730G>A uc002rek.3 - 25 3930 c.3636C>T c.(3634-3636)ATC>ATT p.I1212I ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Silent_p.I452I|ATAD2B_uc002rej.3_Silent_p.I380I NM_017552 NP_060022 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 1212 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCAAGTCCATGATGTCACAGG 0.443 NA 31 101 0 0 0 0 C2orf44 80304 broad.mit.edu 37 2 24255769 24255769 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:24255769G>A uc002rep.2 - 3 1997 c.1866C>T c.(1864-1866)CTC>CTT p.L622L C2orf44_uc010eya.2_Intron NM_025203 NP_079479 Q9H6R7 CB044_HUMAN hypothetical protein LOC80304 isoform 1 622 protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TACCATCACAGAGAAGCACCG 0.383 NA 46 151 0 0 0 0 TMEM214 54867 broad.mit.edu 37 2 27263361 27263361 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:27263361G>A uc002ria.3 + 16 2050 c.1940G>A c.(1939-1941)TGC>TAC p.C647Y TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Missense_Mutation_p.C602Y NM_017727 NP_060197 Q6NUQ4 TM214_HUMAN transmembrane protein 214 isoform 1 647 integral to membrane protein binding 0 CATGAGGCATGCAGGTGAGAC 0.637 NA 5 56 0 0 0 0 GTF3C2 2976 broad.mit.edu 37 2 27566224 27566224 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:27566224C>G uc002rjv.1 - 3 561 c.198G>C c.(196-198)CAG>CAC p.Q66H GTF3C2_uc002rju.1_Missense_Mutation_p.Q77H|GTF3C2_uc002rjw.1_Missense_Mutation_p.Q66H|GTF3C2_uc010eyz.1_Missense_Mutation_p.Q66H NM_001521 NP_001512 Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 66 transcription factor TFIIIC complex ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGAGCCTCCTCTGATCAGGAG 0.488 NA 9 282 0 0 0 0 GTF3C2 2976 broad.mit.edu 37 2 27566241 27566241 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:27566241C>G uc002rjv.1 - 3 544 c.181G>C c.(181-183)GAG>CAG p.E61Q GTF3C2_uc002rju.1_Missense_Mutation_p.E72Q|GTF3C2_uc002rjw.1_Missense_Mutation_p.E61Q|GTF3C2_uc010eyz.1_Missense_Mutation_p.E61Q NM_001521 NP_001512 Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 61 transcription factor TFIIIC complex ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGAGAATCCTCAAATCCAGGC 0.488 NA 5 260 0 0 0 0 GTF3C2 2976 broad.mit.edu 37 2 27566274 27566274 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:27566274C>G uc002rjv.1 - 3 511 c.148G>C c.(148-150)GAG>CAG p.E50Q GTF3C2_uc002rju.1_Missense_Mutation_p.E61Q|GTF3C2_uc002rjw.1_Missense_Mutation_p.E50Q|GTF3C2_uc010eyz.1_Missense_Mutation_p.E50Q NM_001521 NP_001512 Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 50 transcription factor TFIIIC complex ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AATGACATCTCTACGGAAGCC 0.522 NA 5 254 0 0 0 0 GTF3C2 2976 broad.mit.edu 37 2 27566301 27566301 + Nonsense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:27566301C>A uc002rjv.1 - 3 484 c.121G>T c.(121-123)GAA>TAA p.E41* GTF3C2_uc002rju.1_Nonsense_Mutation_p.E52*|GTF3C2_uc002rjw.1_Nonsense_Mutation_p.E41*|GTF3C2_uc010eyz.1_Nonsense_Mutation_p.E41* NM_001521 NP_001512 Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 41 transcription factor TFIIIC complex ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGGTCATTTCTGAAGAGGTC 0.542 NA 6 239 2.53e-12 2.69e-12 1 0 SPDYA 245711 broad.mit.edu 37 2 29063067 29063067 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:29063067C>T uc002rmj.2 + 7 788 c.582C>T c.(580-582)ATC>ATT p.I194I SPDYA_uc002rmi.2_Silent_p.I194I|SPDYA_uc002rmk.2_Silent_p.I194I|SPDYA_uc002rml.2_Silent_p.I194I NM_182756 NP_877433 Q5MJ70 SPDYA_HUMAN speedy homolog A isoform 1 194 Speedy/Ringo box; Required for CDK- binding (By similarity). G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus nucleus protein kinase binding upper_aerodigestive_tract(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) CCCATTATATCTGGCAAAGAG 0.378 NA 7 37 0 0 0 0 C2orf71 388939 broad.mit.edu 37 2 29294902 29294902 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:29294902C>T uc002rmt.1 - 1 2226 c.2226G>A c.(2224-2226)GAG>GAA p.E742E NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 742 response to stimulus|visual perception photoreceptor outer segment skin(1) 1 TCCTCAGACTCTCCGTGGGAC 0.562 NA 27 65 0 0 0 0 XDH 7498 broad.mit.edu 37 2 31598258 31598258 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:31598258C>T uc002rnv.1 - 15 1669 c.1590G>A c.(1588-1590)GAG>GAA p.E530E NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 530 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) CTTCCAGGTTCTCTTGGCCCA 0.552 NA 39 120 0 0 0 0 CCDC75 253635 broad.mit.edu 37 2 37319076 37319076 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:37319076C>T uc010ezz.2 + 5 479 c.334C>T c.(334-336)CAT>TAT p.H112Y CCDC75_uc002rpr.3_Missense_Mutation_p.H9Y NM_174931 NP_777591 Q8N954 CCD75_HUMAN coiled-coil domain containing 75 112 G-patch. intracellular nucleic acid binding 0 all_hematologic(82;0.21) TGGCATTGGTCATGAGGCATC 0.348 NA 9 36 0 0 0 0 CDKL4 344387 broad.mit.edu 37 2 39406448 39406448 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:39406448C>T uc002rrm.2 - 8 807 c.807G>A c.(805-807)ATG>ATA p.M269I CDKL4_uc010fal.1_Missense_Mutation_p.M269I NM_001009565 NP_001009565 Q5MAI5 CDKL4_HUMAN cyclin-dependent kinase-like 4 269 Protein kinase. cytoplasm ATP binding|cyclin-dependent protein kinase activity ovary(1) 1 all_hematologic(82;0.248) CATCTGGATTCATCTTCAGAC 0.423 NA 14 90 0 0 0 0 LOC728819 728819 broad.mit.edu 37 2 43902889 43902889 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:43902889C>T uc010fav.1 - 1 573 c.573G>A c.(571-573)TTG>TTA p.L191L PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.1_Intron NM_001101330 NP_001094800 C1GALT1-specific chaperone 1-like 0 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GTCTTTTCATCAACTCTCTGC 0.448 NA 53 167 0 0 0 0 SIX3 6496 broad.mit.edu 37 2 45169452 45169453 + Missense_Mutation DNP CC CC AT TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:45169452_45169453CC>AT uc002run.1 + 1 416_417 c.209_210CC>AT c.(208-210)TCC>TAT p.S70Y NM_005413 NP_005404 O95343 SIX3_HUMAN SIX homeobox 3 70 visual perception nucleus 0 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ggcggcggcTCCAGGGCCCCCC 0.342 NA 4 9 0 0 0 0 RHOQ 23433 broad.mit.edu 37 2 46770215 46770215 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:46770215C>T uc002rva.2 + 1 349 c.30C>T c.(28-30)CTC>CTT p.L10L ATP6V1E2_uc002ruz.2_5'Flank NM_012249 NP_036381 P17081 RHOQ_HUMAN ras-like protein TC10 precursor 10 cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction actin filament|cytosol|plasma membrane GBD domain binding|GTP binding|GTPase activity|profilin binding skin(2) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) CGCTGATGCTCAAGTGCGTGG 0.587 NA 6 49 0 0 0 0 SOCS5 9655 broad.mit.edu 37 2 46986870 46986870 + Missense_Mutation SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:46986870G>T uc002rvf.2 + 2 1365 c.1201G>T c.(1201-1203)GGC>TGC p.G401C SOCS5_uc010yoe.1_Missense_Mutation_p.G370C|SOCS5_uc002rvg.2_Missense_Mutation_p.G401C NM_014011 NP_054730 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 401 SH2. cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth ovary(1)|lung(1)|central_nervous_system(1) 3 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) GAAACCTGAAGGCACGTTTTT 0.527 NA 26 78 7.93e-12 8.42e-12 1 0 FBXO11 80204 broad.mit.edu 37 2 48063095 48063095 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:48063095C>T uc010fbl.2 - 5 495 c.381G>A c.(379-381)ATG>ATA p.M127I FBXO11_uc002rwe.2_Missense_Mutation_p.M127I|FBXO11_uc002rwf.2_Missense_Mutation_p.M127I|FBXO11_uc002rwg.1_Missense_Mutation_p.M127I NM_025133 NP_079409 Q86XK2 FBX11_HUMAN F-box only protein 11 isoform 1 211 ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1) 2 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GTTCAGGATGCATCATAGGGC 0.328 NA 7 54 0 0 0 0 SPTBN1 6711 broad.mit.edu 37 2 54852072 54852072 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:54852072G>A uc002rxu.2 + 11 1563 c.1314G>A c.(1312-1314)CTG>CTA p.L438L SPTBN1_uc002rxv.1_Silent_p.L438L|SPTBN1_uc002rxx.2_Silent_p.L425L NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 438 Spectrin 2. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) AGACTTGGCTGAGCGAAAACC 0.488 NA 6 102 0 0 0 0 MTIF2 4528 broad.mit.edu 37 2 55471167 55471167 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:55471167C>G uc002ryn.2 - 12 2046 c.1309G>C c.(1309-1311)GAG>CAG p.E437Q MTIF2_uc010yox.1_Missense_Mutation_p.E106Q|MTIF2_uc002ryo.2_Missense_Mutation_p.E437Q NM_001005369 NP_001005369 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 437 regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity ovary(1) 1 TGATACACCTCAGATTCTACT 0.338 NA 7 31 0 0 0 0 CCDC104 112942 broad.mit.edu 37 2 55747049 55747049 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:55747049G>A uc002ryy.2 + 1 310 c.112G>A c.(112-114)GAA>AAA p.E38K CCDC104_uc002ryx.2_Missense_Mutation_p.E38K NM_080667 NP_542398 Q96G28 CC104_HUMAN coiled-coil domain containing 104 38 ovary(1) 1 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) ACAGAAATGTGAAGGTAAAAA 0.567 NA 26 50 0 0 0 0 ETAA1 54465 broad.mit.edu 37 2 67630409 67630409 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:67630409G>C uc002sdz.1 + 5 734 c.595G>C c.(595-597)GAT>CAT p.D199H NM_019002 NP_061875 Q9NY74 ETAA1_HUMAN ETAA16 protein 199 Potential. cytoplasm|nucleus ovary(3)|large_intestine(1) 4 TAAACAATTTGATAAAAATAT 0.259 NA 29 65 0 0 0 0 CLEC4F 165530 broad.mit.edu 37 2 71043679 71043679 + Missense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:71043679C>A uc002shf.2 - 4 911 c.834G>T c.(832-834)TTG>TTT p.L278F CLEC4F_uc010yqv.1_Missense_Mutation_p.L278F NM_173535 NP_775806 Q8N1N0 CLC4F_HUMAN C-type lectin, superfamily member 13 278 Extracellular (Potential). endocytosis integral to membrane receptor activity|sugar binding ovary(5) 5 TGGCTCCTTCCAAACTATTTC 0.408 NA 32 114 3.99e-17 4.28e-17 1 0 RAB11FIP5 26056 broad.mit.edu 37 2 73303223 73303223 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:73303223C>T uc002siu.3 - 4 1897 c.1656G>A c.(1654-1656)CTG>CTA p.L552L RAB11FIP5_uc002sis.3_5'UTR|RAB11FIP5_uc002sit.3_Silent_p.L474L NM_015470 NP_056285 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 552 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding 0 GCCCACTGCTCAGGGCTATGC 0.622 NA 27 261 0 0 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73339833 73339833 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:73339833C>T uc002siu.3 - 1 314 c.73G>A c.(73-75)GTG>ATG p.V25M NM_015470 NP_056285 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 25 C2. protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding 0 GCCCGCAGCACCGTCACCTGG 0.751 NA 3 3 0 0 0 0 TPRKB 51002 broad.mit.edu 37 2 73959362 73959362 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:73959362G>C uc002sjn.2 - 3 303 c.192C>G c.(190-192)CTC>CTG p.L64L TPRKB_uc002sjm.2_Silent_p.L103L|TPRKB_uc002sjl.2_Silent_p.L31L|TPRKB_uc002sjo.2_Silent_p.L64L|TPRKB_uc010yrm.1_Silent_p.L31L NM_016058 NP_057142 Q9Y3C4 TPRKB_HUMAN TP53RK binding protein 64 protein catabolic process cytosol|nucleus protein kinase binding ovary(1)|skin(1) 2 CCAGTTTGTAGAGGTGAACTG 0.358 NA 23 52 0 0 0 0 RTKN 6242 broad.mit.edu 37 2 74657432 74657432 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:74657432C>T uc002sle.2 - 5 609 c.492G>A c.(490-492)ATG>ATA p.M164I RTKN_uc002slc.2_Missense_Mutation_p.M151I|RTKN_uc002sld.2_Missense_Mutation_p.M114I NM_001015055 NP_001015055 Q9BST9 RTKN_HUMAN rhotekin isoform a 164 apoptosis|regulation of anti-apoptosis|Rho protein signal transduction intracellular GTP binding|GTP-Rho binding|GTPase inhibitor activity skin(1) 1 CCACTAGGATCATCTCTGTGT 0.547 NA 7 36 0 0 0 0 C2orf3 6936 broad.mit.edu 37 2 75929407 75929407 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:75929407C>G uc002sno.2 - 3 667 c.537G>C c.(535-537)GAG>GAC p.E179D C2orf3_uc010ffs.2_5'Flank|C2orf3_uc002snn.2_Missense_Mutation_p.E10D|C2orf3_uc010fft.2_5'UTR|C2orf3_uc002snp.3_Missense_Mutation_p.E179D NM_003203 NP_003194 P16383 GCF_HUMAN hypothetical protein LOC6936 179 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 CAGGCTCACTCTCAGGGTCAT 0.423 NA 40 120 0 0 0 0 LRRTM4 80059 broad.mit.edu 37 2 76975904 76975904 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:76975904C>G uc002snr.2 - 4 2105 c.1690G>C c.(1690-1692)GAG>CAG p.E564Q LRRTM4_uc002snq.2_Missense_Mutation_p.E564Q NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 564 Cytoplasmic (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) CGGCCCAGCTCCAGGCCGGGG 0.602 NA 32 121 0 0 0 0 ZNF514 84874 broad.mit.edu 37 2 95815860 95815860 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:95815860C>T uc002sue.1 - 5 744 c.370G>A c.(370-372)GAG>AAG p.E124K ZNF514_uc002sud.1_Missense_Mutation_p.E197K NM_032788 NP_116177 Q96K75 ZN514_HUMAN zinc finger protein 514 124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGCTGCATCTCTAACTGGCCA 0.423 NA 40 82 0 0 0 0 ZNF514 84874 broad.mit.edu 37 2 95818421 95818421 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:95818421G>A uc002sue.1 - 4 589 c.215C>T c.(214-216)TCA>TTA p.S72L ZNF514_uc002sud.1_Missense_Mutation_p.S145L NM_032788 NP_116177 Q96K75 ZN514_HUMAN zinc finger protein 514 72 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCACTCACCTGAGTGGGCTCC 0.522 NA 54 150 0 0 0 0 FER1L5 90342 broad.mit.edu 37 2 97361634 97361634 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:97361634G>C uc010fia.2 + 35 4131 c.4131G>C c.(4129-4131)AAG>AAC p.K1377N FER1L5_uc002sws.3_Missense_Mutation_p.K95N|FER1L5_uc010fib.1_RNA|FER1L5_uc002swt.3_Missense_Mutation_p.K95N|FER1L5_uc010yus.1_Missense_Mutation_p.K94N NM_001113382 NP_001106853 A0AVI2 FR1L5_HUMAN fer-1-like 5 isoform 2 1377 integral to membrane ovary(1) 1 TGCACCCAAAGCTTCCAAGTA 0.632 NA 6 29 0 0 0 0 ANKRD36 375248 broad.mit.edu 37 2 97869931 97869931 + Missense_Mutation SNP A A T rs76309140 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:97869931A>T uc010yva.1 + 50 3236 c.2992A>T c.(2992-2994)ACA>TCA p.T998S ANKRD36_uc002sxp.3_RNA NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 998 0 CATTCAGGCTACAAGTGATGA 0.289 NA 4 37 0 0 0 0 ZC3H8 84524 broad.mit.edu 37 2 112989456 112989456 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:112989456G>A uc002thp.2 - 7 908 c.802C>T c.(802-804)CAT>TAT p.H268Y NM_032494 NP_115883 Q8N5P1 ZC3H8_HUMAN zinc finger CCCH-type containing 8 268 C3H1-type 3. apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic|T cell homeostasis nucleus RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 AGTGGAGCATGAGAAAACTTG 0.303 NA 20 81 0 0 0 0 POLR1B 84172 broad.mit.edu 37 2 113322029 113322029 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:113322029G>C uc002thw.2 + 10 2279 c.1699G>C c.(1699-1701)GAT>CAT p.D567H POLR1B_uc010fkn.2_Missense_Mutation_p.D511H|POLR1B_uc002thx.2_Missense_Mutation_p.D428H|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Missense_Mutation_p.D6H|POLR1B_uc010yxn.1_Missense_Mutation_p.D605H|POLR1B_uc002thy.2_Missense_Mutation_p.D428H|POLR1B_uc010yxo.1_Missense_Mutation_p.D344H NM_019014 NP_061887 Q9H9Y6 RPA2_HUMAN RNA polymerase I polypeptide B isoform 1 567 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding ovary(1) 1 TGGCTGGGTGGATAAGGATCT 0.507 NA 42 212 0 0 0 0 KYNU 8942 broad.mit.edu 37 2 143790866 143790866 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:143790866C>G uc002tvl.2 + 12 1147 c.1017C>G c.(1015-1017)GTC>GTG p.V339V KYNU_uc010fnm.2_Silent_p.V339V NM_003937 NP_003928 Q16719 KYNU_HUMAN kynureninase (L-kynurenine hydrolase) isoform a 339 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity skin(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) TTTTGTTGGTCTGTTCCTTGC 0.378 NA 10 179 0 0 0 0 LRP2 4036 broad.mit.edu 37 2 170115654 170115654 + Silent SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:170115654G>T uc002ues.2 - 17 2607 c.2394C>A c.(2392-2394)CTC>CTA p.L798L LRP2_uc010zdf.1_Silent_p.L661L NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 798 LDL-receptor class B 7.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CTGTCCAATAGAGATTCTTTG 0.378 NA 38 66 2.05e-20 2.2e-20 1 0 HAT1 8520 broad.mit.edu 37 2 172822934 172822934 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:172822934G>C uc002uhi.2 + 7 692 c.616G>C c.(616-618)GAG>CAG p.E206Q HAT1_uc010fqi.2_Missense_Mutation_p.E41Q|HAT1_uc002uhj.2_Missense_Mutation_p.E121Q NM_003642 NP_003633 O14929 HAT1_HUMAN histone acetyltransferase 1 206 chromatin silencing at telomere|DNA packaging cytoplasm|nuclear matrix|nucleoplasm histone acetyltransferase activity|protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.216) CTGCAGATTTGAGAAGTATAA 0.438 NA 3 40 0 0 0 0 EVX2 344191 broad.mit.edu 37 2 176948129 176948129 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:176948129G>A uc010zeu.1 - 1 562 c.376C>T c.(376-378)CGC>TGC p.R126C NM_001080458 NP_001073927 Q03828 EVX2_HUMAN even-skipped homeobox 2 126 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) CCGGGGGAGCGAAGCGCGGAG 0.682 NA 6 13 0 0 0 0 TTC30B 150737 broad.mit.edu 37 2 178415907 178415907 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:178415907C>G uc002uln.2 - 1 1618 c.1585G>C c.(1585-1587)GAG>CAG p.E529Q TTC30B_uc010zfc.1_Missense_Mutation_p.E301Q NM_152517 NP_689730 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B 529 Potential. cell projection organization cilium binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) GAGAGCTGCTCTTCCTCCTTT 0.378 NA 64 143 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179428814 179428814 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:179428814G>C uc010zfg.1 - 275 74565 c.74341C>G c.(74341-74343)CTG>GTG p.L24781V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.L18476V|TTN_uc010zfi.1_Missense_Mutation_p.L18409V|TTN_uc010zfj.1_Missense_Mutation_p.L18284V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 25708 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGAGTTTCAGAATATATTGT 0.413 NA 29 173 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179572396 179572396 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:179572396G>A uc010zfg.1 - 97 25390 c.25166C>T c.(25165-25167)TCA>TTA p.S8389L TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S5050L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9316 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCATCTGTCTGAAGGCTTTAT 0.483 NA 18 36 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179611231 179611231 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:179611231G>A uc002unb.2 - 46 16120 c.15896C>T c.(15895-15897)ACC>ATC p.T5299I TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 8817 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGATGATGTGGTGTGTTCCAA 0.408 NA 13 34 0 0 0 0 CFLAR 8837 broad.mit.edu 37 2 202025553 202025553 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:202025553G>A uc002uxb.3 + 9 1644 c.1192G>A c.(1192-1194)GAA>AAA p.E398K CFLAR_uc010zhk.1_Missense_Mutation_p.E302K|CFLAR_uc002uxc.3_Missense_Mutation_p.E363K|CFLAR_uc010zhl.1_Missense_Mutation_p.E302K|CFLAR_uc010fsw.1_RNA|CFLAR_uc002uxd.3_Missense_Mutation_p.E398K|CFLAR_uc002uxf.2_Missense_Mutation_p.E398K|CFLAR_uc010fsy.2_RNA|CFLAR_uc010fsx.2_Intron|CFLAR_uc010zhm.1_Missense_Mutation_p.E302K|CFLAR_uc010fsz.2_Missense_Mutation_p.E153K|CFLAR_uc002uxg.2_Missense_Mutation_p.E153K NM_003879 NP_003870 O15519 CFLAR_HUMAN CASP8 and FADD-like apoptosis regulator isoform 398 Interaction with caspase-8.|Interaction with caspase-3.|Interaction with TRAF1 and TRAF2.|Not proteolytically processed and involved in apoptosis inhibition.|Interaction with caspase-8 subunits p18 and p10. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis cysteine-type endopeptidase activity|protein binding 0 AGTTCACCGAGAAGCTGACTT 0.577 NA 15 33 0 0 0 0 ALS2 57679 broad.mit.edu 37 2 202625889 202625889 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:202625889G>A uc002uyo.2 - 4 1184 c.828C>T c.(826-828)CTC>CTT p.L276L ALS2_uc002uyp.3_Silent_p.L276L|ALS2_uc002uyq.2_Silent_p.L276L|ALS2_uc002uyr.2_Silent_p.L276L NM_020919 NP_065970 Q96Q42 ALS2_HUMAN alsin isoform 1 276 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity skin(5)|lung(1)|breast(1) 7 TGGAGGGGCTGAGAGCAGTGC 0.453 NA 22 46 0 0 0 0 C2orf62 375307 broad.mit.edu 37 2 219222441 219222441 + Silent SNP C C T rs150544491 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:219222441C>T uc002vhr.2 + 3 332 c.303C>T c.(301-303)TGC>TGT p.C101C C2orf62_uc002vhs.2_RNA NM_198559 NP_940961 Q7Z7H3 CB062_HUMAN hypothetical protein LOC375307 101 0 Renal(207;0.0915) Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAATGCTCTGCGGAAATTCCC 0.527 NA 22 69 0 0 0 0 CHPF 79586 broad.mit.edu 37 2 220405145 220405145 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:220405145G>C uc002vmc.3 - 4 1515 c.1288C>G c.(1288-1290)CTA>GTA p.L430V CHPF_uc010zlh.1_Missense_Mutation_p.L268V NM_024536 NP_078812 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 430 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding 0 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) AGCTCCTCTAGAGCTGTCCCC 0.647 NA 20 18 0 0 0 0 PTMA 5757 broad.mit.edu 37 2 232576621 232576621 + Nonsense_Mutation SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:232576621G>T uc002vsc.3 + 3 324 c.142G>T c.(142-144)GAG>TAG p.E48* PTMA_uc002vsb.3_Nonsense_Mutation_p.E47*|PTMA_uc010zmf.1_RNA|MIR1244_hsa-mir-1244-1|MI0006379_5'Flank NM_001099285 NP_001092755 P06454 PTMA_HUMAN prothymosin, alpha isoform 1 48 Asp/Glu-rich (acidic). transcription, DNA-dependent nucleus 0 Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142) Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) TGGGGAGCAGGAGGCTGACAA 0.418 NA 6 9 3.6e-05 3.71e-05 1 0 NSFL1C 55968 broad.mit.edu 37 20 1426360 1426360 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr20:1426360G>A uc002wfc.2 - 8 1849 c.901C>T c.(901-903)CGG>TGG p.R301W NSFL1C_uc002wfd.2_Missense_Mutation_p.R190W|NSFL1C_uc002wfe.2_Missense_Mutation_p.R270W|NSFL1C_uc002wff.2_RNA|NSFL1C_uc010gag.2_Missense_Mutation_p.R67W NM_016143 NP_057227 Q9UNZ2 NSF1C_HUMAN p47 protein isoform a 301 UBX. chromosome|Golgi stack|nucleus lipid binding|protein binding 0 TCTGCAAGCCGAATTTGGATG 0.517 NA 26 258 0 0 0 0 ZNF343 79175 broad.mit.edu 37 20 2474452 2474452 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr20:2474452C>T uc002wge.1 - 3 578 c.90G>A c.(88-90)AAG>AAA p.K30K ZNF343_uc010gao.1_Silent_p.K30K|ZNF343_uc002wgd.1_5'Flank NM_024325 NP_077301 Q6P1L6 ZN343_HUMAN zinc finger protein 343 30 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 GGGTCAATTTCTTCATAGTCT 0.458 NA 35 154 0 0 0 0 ZNF343 79175 broad.mit.edu 37 20 2474463 2474463 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr20:2474463C>G uc002wge.1 - 3 567 c.79G>C c.(79-81)GAG>CAG p.E27Q ZNF343_uc010gao.1_Missense_Mutation_p.E27Q|ZNF343_uc002wgd.1_5'Flank NM_024325 NP_077301 Q6P1L6 ZN343_HUMAN zinc finger protein 343 27 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E27K(1) upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TTCATAGTCTCTACATTTTCC 0.473 NA 36 161 0 0 0 0 ATRN 8455 broad.mit.edu 37 20 3529964 3529964 + Nonsense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr20:3529964C>G uc002wim.2 + 6 1181 c.1091C>G c.(1090-1092)TCA>TGA p.S364* ATRN_uc002wil.2_Nonsense_Mutation_p.S364* NM_139321 NP_647537 O75882 ATRN_HUMAN attractin isoform 1 364 Extracellular (Potential).|Kelch 1. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding ovary(1)|breast(1) 2 TTCAACCACTCAGATTATAAC 0.299 NA 21 99 0 0 0 0 C20orf185 359710 broad.mit.edu 37 20 31647253 31647253 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr20:31647253G>A uc002wym.1 + 3 351 c.351G>A c.(349-351)CTG>CTA p.L117L NM_182658 NP_872599 P59826 LPLC3_HUMAN antimicrobial peptide RYA3 precursor 117 Leu-rich. innate immune response cytoplasm|extracellular region lipid binding|protein binding ovary(4) 4 GGGTGCAGCTGAGCCTGCACA 0.582 NA 13 24 0 0 0 0 TGM2 7052 broad.mit.edu 37 20 36789876 36789876 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr20:36789876C>T uc002xhr.2 - 2 236 c.136G>A c.(136-138)GAG>AAG p.E46K TGM2_uc010zvx.1_Missense_Mutation_p.E46K|TGM2_uc010zvy.1_Intron|TGM2_uc002xhs.1_Missense_Mutation_p.E46K|TGM2_uc002xht.2_Missense_Mutation_p.E46K|TGM2_uc002xhu.3_Missense_Mutation_p.E46K NM_004613 NP_004604 P21980 TGM2_HUMAN transglutaminase 2 isoform a 46 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity large_intestine(1)|lung(1)|ovary(1) 3 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) TTGCGGCCCTCAAAGTGCAGG 0.557 NA 9 72 0 0 0 0 ADA 100 broad.mit.edu 37 20 43251500 43251500 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr20:43251500G>A uc002xmj.2 - 8 878 c.750C>T c.(748-750)AAC>AAT p.N250N ADA_uc010ggt.2_RNA NM_000022 NP_000013 P00813 ADA_HUMAN adenosine deaminase 250 adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome adenosine deaminase activity|protein binding|zinc ion binding pancreas(2)|ovary(1) 3 all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194) GCCGCAGCCTGTTATAAAGGG 0.557 NA Adenosine_Deaminase_Deficiency 27 133 0 0 0 0 NEURL2 140825 broad.mit.edu 37 20 44517447 44517447 + Missense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr20:44517447C>A uc002xqg.1 - 2 1079 c.808G>T c.(808-810)GAT>TAT p.D270Y C20orf165_uc002xqf.2_5'Flank|CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank NM_080749 NP_542787 Q9BR09 NEUL2_HUMAN neuralized-like protein 2 270 SOCS box. intracellular signal transduction 0 Myeloproliferative disorder(115;0.0122) TGGAGCCCATCAATGGCCAGC 0.542 NA 5 73 0.000602214 0.000617179 1 0 RBM38 55544 broad.mit.edu 37 20 55982766 55982766 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr20:55982766C>T uc010zzj.1 + 4 759 c.584C>T c.(583-585)TCG>TTG p.S195L RBM38_uc010zzk.1_3'UTR NM_017495 NP_059965 Q9H0Z9 RBM38_HUMAN RNA-binding region containing protein 1 isoform 195 3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing cytosol|cytosol|nucleus|nucleus mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding 0 Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08) TACGCCGCCTCGCCTGCCACG 0.692 NA 8 20 0 0 0 0 YTHDF1 54915 broad.mit.edu 37 20 61846954 61846954 + Splice_Site SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr20:61846954C>G uc002yeh.2 - 2 322 c.28_splice c.e2-1 p.R10_splice NM_017798 NP_060268 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 ovary(2) 2 CTTTTGTTCTCTGCACCGCCG 0.622 NA 17 29 0 0 0 0 KCNQ2 3785 broad.mit.edu 37 20 62038284 62038284 + Nonsense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr20:62038284C>A uc002yey.1 - 17 2509 c.2332G>T c.(2332-2334)GAG>TAG p.E778* KCNQ2_uc002yez.1_Nonsense_Mutation_p.E747*|KCNQ2_uc002yfa.1_Nonsense_Mutation_p.E760*|KCNQ2_uc002yfb.1_Nonsense_Mutation_p.E750* NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 778 Cytoplasmic (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) AGGTTCCCCTCGGGGGGCCTG 0.701 NA 4 10 5.94e-07 6.19e-07 1 0 PRIC285 85441 broad.mit.edu 37 20 62203596 62203596 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr20:62203596G>C uc002yfm.2 - 2 1035 c.143C>G c.(142-144)ACC>AGC p.T48S PRIC285_uc002yfn.2_Missense_Mutation_p.T48S NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 48 C2H2-type; atypical. cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) AGAGTGGCAGGTGACCAAGCA 0.706 NA 9 7 0 0 0 0 CXADR 1525 broad.mit.edu 37 21 18931416 18931416 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr21:18931416G>A uc002yki.2 + 4 656 c.538G>A c.(538-540)GAC>AAC p.D180N CXADR_uc002ykh.1_Missense_Mutation_p.D180N|CXADR_uc010gld.1_Intron|CXADR_uc010gle.1_Intron|CXADR_uc002ykj.1_Missense_Mutation_p.D153N NM_001338 NP_001329 P78310 CXAR_HUMAN coxsackie virus and adenovirus receptor 180 Extracellular (Potential).|Ig-like C2-type 2. blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction receptor activity ovary(1) 1 Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782) AAAATTGTCTGACTCACAGAA 0.383 NA 18 68 0 0 0 0 KRTAP15-1 254950 broad.mit.edu 37 21 31812732 31812732 + Missense_Mutation SNP C C G rs138157793 byFrequency TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr21:31812732C>G uc002yod.2 + 1 87 c.87C>G c.(85-87)TTC>TTG p.F29L NM_181623 NP_853654 Q3LI76 KR151_HUMAN keratin associated protein 15-1 29 intermediate filament 0 ATAATTTGTTCTACCCCAGCA 0.478 NA 3 111 0 0 0 0 SON 6651 broad.mit.edu 37 21 34931614 34931614 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr21:34931614G>A uc002yse.1 + 5 6449 c.6400G>A c.(6400-6402)GAA>AAA p.E2134K SON_uc002ysc.2_Missense_Mutation_p.E2134K|SON_uc002ysd.2_Missense_Mutation_p.E1125K|SON_uc002ysf.1_Missense_Mutation_p.E162K|SON_uc002ysg.2_Missense_Mutation_p.E1125K NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 2134 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 TGAAGAGGAAGAAGAACCTCC 0.323 NA 11 143 0 0 0 0 DSCAM 1826 broad.mit.edu 37 21 41684117 41684117 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr21:41684117C>G uc002yyq.1 - 9 2405 c.1953G>C c.(1951-1953)ACG>ACC p.T651T DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 651 Extracellular (Potential).|Ig-like C2-type 7. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TCAAGGAGCTCGTGAAGTCAA 0.547 NA 20 78 0 0 0 0 UFD1L 7353 broad.mit.edu 37 22 19463117 19463117 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:19463117G>C uc002zpm.2 - 2 142 c.12C>G c.(10-12)TTC>TTG p.F4L UFD1L_uc002zpo.2_Missense_Mutation_p.F4L|UFD1L_uc011agy.1_Missense_Mutation_p.F4L|UFD1L_uc002zpp.2_5'UTR|UFD1L_uc010grq.2_5'UTR NM_005659 NP_005650 Q92890 UFD1_HUMAN ubiquitin fusion degradation 1-like isoform A 4 skeletal system development|ubiquitin-dependent protein catabolic process cytosol|nucleus protein binding|ubiquitin-specific protease activity 0 Colorectal(54;0.0993) CGAACATGTTGAAAGAGAACT 0.423 NA 14 61 0 0 0 0 DGCR8 54487 broad.mit.edu 37 22 20079432 20079432 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:20079432C>G uc002zri.2 + 7 1895 c.1545C>G c.(1543-1545)ATC>ATG p.I515M DGCR8_uc010grz.2_Missense_Mutation_p.I515M|DGCR8_uc002zrj.2_Missense_Mutation_p.I158M NM_022720 NP_073557 Q8WYQ5 DGCR8_HUMAN DiGeorge syndrome critical region gene 8 515 Necessary for interaction with DROSHA.|Necessary for heme-binding and pri-miRNA processing.|DRBM 1. primary miRNA processing cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding 0 Colorectal(54;0.0993) AGGTCTGCATCCTGCACGAGT 0.468 NA 10 34 0 0 0 0 TRMT2A 27037 broad.mit.edu 37 22 20102116 20102116 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:20102116G>C uc002zrk.1 - 8 1429 c.1214C>G c.(1213-1215)TCT>TGT p.S405C TRMT2A_uc002zrl.1_Missense_Mutation_p.S405C|TRMT2A_uc002zrm.1_Missense_Mutation_p.S227C|TRMT2A_uc002zrn.1_Missense_Mutation_p.S405C|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank NM_182984 NP_892029 Q8IZ69 TRM2A_HUMAN HpaII tiny fragments locus 9C 405 RNA processing nucleotide binding|RNA binding|RNA methyltransferase activity breast(1) 1 GGCGTGTGGAGAGATCCGGAA 0.632 NA 21 98 0 0 0 0 ZNF280B 140883 broad.mit.edu 37 22 22843165 22843165 + Missense_Mutation SNP T T C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:22843165T>C uc002zwc.1 - 4 1335 c.559A>G c.(559-561)AGG>GGG p.R187G LOC96610_uc011aim.1_Intron NM_080764 NP_542942 Q86YH2 Z280B_HUMAN zinc finger protein 280B 187 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) AGTTTAGCCCTTTTGGGATTT 0.388 NA 4 189 0 0 0 0 BCR 613 broad.mit.edu 37 22 23523385 23523385 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:23523385G>A uc002zww.2 + 1 834 c.238G>A c.(238-240)GCG>ACG p.A80T BCR_uc002zwx.2_Missense_Mutation_p.A80T NM_004327 NP_004318 P11274 BCR_HUMAN breakpoint cluster region isoform 1 80 Kinase. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1) 12 CTTCCGGCGCGCGGCGCAGGC 0.736 NA T ABL1| FGFR1|JAK2 CML|ALL|AML 3 4 0 0 0 0 ASPHD2 57168 broad.mit.edu 37 22 26829810 26829810 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:26829810C>G uc003acg.2 + 2 626 c.229C>G c.(229-231)CAC>GAC p.H77D NM_020437 NP_065170 Q6ICH7 ASPH2_HUMAN aspartate beta-hydroxylase domain containing 2 77 Helical; (Potential). peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity ovary(1) 1 GTACTGTTATCACGTGGGCAG 0.637 NA 23 74 0 0 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30691787 30691787 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:30691787C>T uc011akt.1 - 4 487 c.463G>A c.(463-465)GAG>AAG p.E155K GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_RNA|GATSL3_uc003ahh.2_RNA|GATSL3_uc010gvq.2_RNA|GATSL3_uc003ahi.2_Missense_Mutation_p.E13K|TBC1D10A_uc003ahj.3_Missense_Mutation_p.E67K|TBC1D10A_uc010gvu.2_Missense_Mutation_p.E162K|TBC1D10A_uc003ahk.3_Missense_Mutation_p.E155K NM_031937 NP_114143 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 155 Rab-GAP TBC. intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity ovary(1) 1 AGGTCACGCTCAATCACGTCC 0.617 NA 9 48 0 0 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119504 38119504 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:38119504C>T uc003atr.2 + 7 1212 c.941C>T c.(940-942)TCC>TTC p.S314F TRIOBP_uc003atu.2_Missense_Mutation_p.S142F|TRIOBP_uc003atq.1_Missense_Mutation_p.S314F|TRIOBP_uc003ats.1_Missense_Mutation_p.S142F NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 314 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) AGGGCCTCATCCACCCAAGAG 0.607 NA 62 159 0 0 0 0 H1F0 3005 broad.mit.edu 37 22 38202088 38202088 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:38202088G>A uc003aty.2 + 1 975 c.537G>A c.(535-537)GTG>GTA p.V179V GCAT_uc003atz.2_5'Flank|GCAT_uc003aua.1_5'Flank NM_005318 NP_005309 P07305 H10_HUMAN H1 histone family, member 0 179 DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome DNA binding 0 Melanoma(58;0.045) CCAAACCAGTGAAACCCAAAG 0.502 NA 19 44 0 0 0 0 C22orf23 84645 broad.mit.edu 37 22 38349119 38349119 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:38349119C>G uc003auj.1 - 2 129 c.38G>C c.(37-39)GGA>GCA p.G13A C22orf23_uc003auk.1_Missense_Mutation_p.G13A|POLR2F_uc010gxi.2_5'Flank|POLR2F_uc003aul.2_5'Flank|POLR2F_uc003aum.2_5'Flank NM_032561 NP_115950 Q9BZE7 EVG1_HUMAN hypothetical protein LOC84645 13 0 Melanoma(58;0.045) GAACCCAGTTCCTTTGGTCAC 0.522 NA 39 143 0 0 0 0 DMC1 11144 broad.mit.edu 37 22 38945946 38945946 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:38945946C>G uc003avz.1 - 8 653 c.478G>C c.(478-480)GAT>CAT p.D160H DMC1_uc011anv.1_Intron|DMC1_uc003awa.1_Missense_Mutation_p.D160H NM_007068 NP_008999 Q14565 DMC1_HUMAN DMC1 dosage suppressor of mck1 homolog 160 reciprocal meiotic recombination condensed nuclear chromosome ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding ovary(1) 1 Melanoma(58;0.0286) TTTTCTGTATCAATGAAGATA 0.328 NA Homologous_recombination 8 40 0 0 0 0 SUN2 25777 broad.mit.edu 37 22 39138314 39138314 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:39138314G>A uc003awh.1 - 10 1344 c.1060C>T c.(1060-1062)CGC>TGC p.R354C SUN2_uc011anz.1_Missense_Mutation_p.R389C|SUN2_uc011aoa.1_Missense_Mutation_p.R343C|SUN2_uc003awi.1_Missense_Mutation_p.R354C|SUN2_uc010gxq.1_Missense_Mutation_p.R375C|SUN2_uc010gxr.1_Missense_Mutation_p.R354C|SUN2_uc010gxs.1_Missense_Mutation_p.R354C NM_015374 NP_056189 Q9UH99 SUN2_HUMAN unc-84 homolog B 354 Potential.|Perinuclear space. centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex lamin binding|microtubule binding large_intestine(1)|skin(1) 2 ACCTGGATGCGAGCAGCAGTT 0.607 NA 9 43 0 0 0 0 L3MBTL2 83746 broad.mit.edu 37 22 41613186 41613186 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:41613186C>T uc003azo.2 + 5 634 c.580C>T c.(580-582)CCC>TCC p.P194S L3MBTL2_uc010gyi.1_Missense_Mutation_p.P103S|L3MBTL2_uc003azn.2_RNA|uc003azp.1_RNA NM_031488 NP_113676 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 194 MBT 1. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 CAAGGCTGCTCCCGTCAGCTG 0.632 NA 25 54 0 0 0 0 L3MBTL2 83746 broad.mit.edu 37 22 41613200 41613200 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:41613200C>T uc003azo.2 + 5 648 c.594C>T c.(592-594)TTC>TTT p.F198F L3MBTL2_uc010gyi.1_Silent_p.F107F|L3MBTL2_uc003azn.2_RNA|uc003azp.1_RNA NM_031488 NP_113676 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 198 MBT 1. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 TCAGCTGTTTCAAGCACGTGA 0.627 NA 20 51 0 0 0 0 POLR3H 171568 broad.mit.edu 37 22 41925317 41925317 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:41925317C>T uc003baf.2 - 7 645 c.585G>A c.(583-585)CTG>CTA p.L195L POLR3H_uc003bae.2_RNA|POLR3H_uc003bag.2_Silent_p.L195L|POLR3H_uc003bai.2_Silent_p.L166L NM_138338 NP_612211 Q9Y535 RPC8_HUMAN polymerase (RNA) III (DNA directed) polypeptide 195 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity skin(1) 1 AGAGAAGGCCCAGGCCTGGCT 0.597 NA 9 34 0 0 0 0 ITPR1 3708 broad.mit.edu 37 3 4699900 4699900 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:4699900C>G uc003bqa.2 + 13 1437 c.1089C>G c.(1087-1089)GAC>GAG p.D363E ITPR1_uc010hca.1_Missense_Mutation_p.D348E|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.D348E NM_001099952 NP_001093422 Q14643 ITPR1_HUMAN inositol 1,4,5-triphosphate receptor, type 1 363 Cytoplasmic (Potential).|MIR 4. activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1) 21 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) AAGGCAATGACATCTCCTCCA 0.507 NA 18 64 0 0 0 0 ITPR1 3708 broad.mit.edu 37 3 4725457 4725457 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:4725457G>C uc003bqa.2 + 28 3794 c.3446G>C c.(3445-3447)GGA>GCA p.G1149A ITPR1_uc010hca.1_Missense_Mutation_p.G1134A|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.G80A NM_001099952 NP_001093422 Q14643 ITPR1_HUMAN inositol 1,4,5-triphosphate receptor, type 1 1158 Cytoplasmic (Potential). activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1) 21 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GGTGCATCTGGAGAAAATGAA 0.473 NA 19 44 0 0 0 0 PRRT3 285368 broad.mit.edu 37 3 9990498 9990498 + Nonsense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:9990498G>C uc003bul.2 - 3 1245 c.1115C>G c.(1114-1116)TCA>TGA p.S372* CIDEC_uc003bto.2_Intron|PRRT3_uc003buk.2_RNA|PRRT3_uc003bum.2_Nonsense_Mutation_p.S372* NM_207351 NP_997234 Q5FWE3 PRRT3_HUMAN proline-rich transmembrane protein 3 precursor 372 Extracellular (Potential).|Pro-rich. integral to membrane 0 GCCAGGGTCTGAGGGACCAGG 0.642 NA 63 168 0 0 0 0 VHL 7428 broad.mit.edu 37 3 10188211 10188211 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:10188211C>T uc003bvc.2 + 2 567 c.354C>T c.(352-354)CTC>CTT p.L118L VHL_uc003bvd.2_Intron NM_000551 NP_000542 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor isoform 1 118 Involved in binding to CCT complex. L -> R (in VHLD). anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus protein binding|transcription factor binding p.L118P(4)|p.W117fs*40(1)|p.L118fs*14(1)|p.L118H(1)|p.?(1) kidney(1273)|soft_tissue(24)|adrenal_gland(15)|large_intestine(13)|pancreas(5)|endometrium(4)|thyroid(3)|upper_aerodigestive_tract(3)|central_nervous_system(2)|lung(2)|pleura(1)|paratesticular_tissues(1) 1346 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) ACCTTTGGCTCTTCAGAGATG 0.353 1 D|Mis|N|F|S renal|hemangioma|pheochromocytoma renal|hemangioma|pheochromocytoma von_Hippel-Lindau_disease|Chuvash_Polycythemia_|Pheochromocytoma_(Adrenal)_Familial 58 146 0 0 0 0 ATP2B2 491 broad.mit.edu 37 3 10392202 10392202 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:10392202G>A uc003bvt.2 - 15 2635 c.2196C>T c.(2194-2196)GGC>GGT p.G732G ATP2B2_uc003bvv.2_Silent_p.G687G|ATP2B2_uc003bvw.2_Silent_p.G687G|ATP2B2_uc010hdo.2_Silent_p.G437G NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 732 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 TGATATTGTCGCCAGTGACCA 0.632 NA 26 72 0 0 0 0 IQSEC1 9922 broad.mit.edu 37 3 12983123 12983123 + Nonsense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:12983123G>C uc003bxt.2 - 2 317 c.308C>G c.(307-309)TCA>TGA p.S103* IQSEC1_uc003bxu.3_5'UTR|IQSEC1_uc011auw.1_Nonsense_Mutation_p.S89* NM_014869 NP_055684 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 isoform b 103 regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity ovary(1) 1 GAGTGAGCGTGAGCGCTTGAT 0.662 NA 5 22 0 0 0 0 C3orf20 84077 broad.mit.edu 37 3 14769987 14769987 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:14769987G>A uc003byy.2 + 12 2136 c.1732G>A c.(1732-1734)GAA>AAA p.E578K C3orf20_uc003byz.2_Missense_Mutation_p.E456K|C3orf20_uc003bza.2_Missense_Mutation_p.E456K|C3orf20_uc003bzb.1_Missense_Mutation_p.E79K NM_032137 NP_115513 Q8ND61 CC020_HUMAN hypothetical protein LOC84077 578 Poly-Glu. cytoplasm|integral to membrane ovary(3)|skin(1) 4 GGAGGAGGAAGAATTTGTTCG 0.473 NA 23 94 0 0 0 0 COLQ 8292 broad.mit.edu 37 3 15512102 15512102 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:15512102C>T uc003bzx.2 - 11 784 c.658G>A c.(658-660)GAA>AAA p.E220K COLQ_uc003bzv.2_Missense_Mutation_p.E210K|COLQ_uc003bzz.2_Missense_Mutation_p.E211K|COLQ_uc010heo.2_Missense_Mutation_p.E186K|COLQ_uc003cac.1_RNA|COLQ_uc003cae.1_Missense_Mutation_p.E79K|COLQ_uc003cad.1_RNA NM_005677 NP_005668 Q9Y215 COLQ_HUMAN acetylcholinesterase collagen-like tail subunit 220 Collagen-like 1. acetylcholine catabolic process in synaptic cleft|asymmetric protein localization basal lamina|cell junction|collagen|extracellular space|synaptic cleft 0 ATCCCAGGTTCACCTTTTGGA 0.537 NA 63 194 0 0 0 0 BTD 686 broad.mit.edu 37 3 15686312 15686312 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:15686312C>T uc003cah.2 + 4 1052 c.949C>T c.(949-951)CTG>TTG p.L317L BTD_uc011avv.1_Silent_p.L319L|BTD_uc011avw.1_Silent_p.L319L|BTD_uc011avx.1_Silent_p.L297L NM_000060 NP_000051 P43251 BTD_HUMAN biotinidase precursor 317 CN hydrolase. central nervous system development|epidermis development|nitrogen compound metabolic process extracellular space biotin carboxylase activity|biotinidase activity 0 ACACACCCCTCTGGAGTCCTT 0.488 NA 27 89 0 0 0 0 CRTAP 10491 broad.mit.edu 37 3 33155701 33155701 + Silent SNP C C T rs114946269 by1000genomes TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:33155701C>T uc003cfl.3 + 1 252 c.132C>T c.(130-132)CTC>CTT p.L44L CRTAP_uc010hfz.2_Silent_p.L44L|CRTAP_uc003cfm.2_5'UTR|CRTAP_uc003cfn.2_5'UTR NM_006371 NP_006362 O75718 CRTAP_HUMAN cartilage associated protein precursor 44 proteinaceous extracellular matrix binding 0 TGATGCCGCTCGAGTCGGCCT 0.697 NA 6 22 0 0 0 0 ARPP21 10777 broad.mit.edu 37 3 35778790 35778790 + Missense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:35778790C>A uc003cgb.2 + 16 1844 c.1580C>A c.(1579-1581)TCC>TAC p.S527Y ARPP21_uc003cga.2_Missense_Mutation_p.S473Y|ARPP21_uc011axy.1_Missense_Mutation_p.S493Y|ARPP21_uc003cgf.2_Missense_Mutation_p.S328Y|ARPP21_uc003cgg.2_Missense_Mutation_p.S15Y NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 527 Gln-rich. cytoplasm nucleic acid binding ovary(2)|skin(1) 3 CAGCAGCCCTCCCCGCAGCCC 0.642 NA 21 41 5.45e-15 5.83e-15 1 0 OXSR1 9943 broad.mit.edu 37 3 38266073 38266073 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:38266073G>A uc003chy.2 + 8 1056 c.714G>A c.(712-714)CTG>CTA p.L238L OXSR1_uc010hhb.2_Silent_p.L172L|OXSR1_uc010hha.1_Silent_p.L170L NM_005109 NP_005100 O95747 OXSR1_HUMAN oxidative-stress responsive 1 238 Protein kinase. intracellular protein kinase cascade|response to oxidative stress ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TTTTAATGCTGACACTGCAGA 0.289 NA 6 80 0 0 0 0 XIRP1 165904 broad.mit.edu 37 3 39226071 39226071 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:39226071C>G uc003cjk.1 - 2 5087 c.4866G>C c.(4864-4866)CAG>CAC p.Q1622H XIRP1_uc003cji.2_3'UTR|XIRP1_uc003cjj.2_Missense_Mutation_p.Q305H NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1622 actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TGACTTGACTCTGGGCCTCAG 0.562 NA 54 161 0 0 0 0 ZNF167 55888 broad.mit.edu 37 3 44612228 44612228 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:44612228G>C uc010hin.2 + 6 2014 c.1626G>C c.(1624-1626)CAG>CAC p.Q542H ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.Q542H|ZNF167_uc003cnk.2_Intron NM_018651 NP_061121 Q9P0L1 ZN167_HUMAN zinc finger protein 167 isoform 1 542 C2H2-type 6. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609) TTGACCATCAGAGAATCCACA 0.463 NA 48 123 0 0 0 0 COL7A1 1294 broad.mit.edu 37 3 48625737 48625737 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:48625737G>A uc003ctz.2 - 20 2689 c.2688C>T c.(2686-2688)TTC>TTT p.F896F NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 896 Fibronectin type-III 8.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AGTGCAGAAGGAAGCCCTGCG 0.682 NA 17 42 0 0 0 0 COL7A1 1294 broad.mit.edu 37 3 48626388 48626388 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:48626388G>A uc003ctz.2 - 18 2356 c.2355C>T c.(2353-2355)CTC>CTT p.L785L NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 785 Nonhelical region (NC1).|Fibronectin type-III 7. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGGAAGCATTGAGGATCTGCA 0.607 NA 30 92 0 0 0 0 BSN 8927 broad.mit.edu 37 3 49692476 49692476 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:49692476C>G uc003cxe.3 + 5 5601 c.5487C>G c.(5485-5487)CTC>CTG p.L1829L NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 1829 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GCATTGGCCTCAAGCCAGGCC 0.612 NA 6 96 0 0 0 0 MST1R 4486 broad.mit.edu 37 3 49936568 49936568 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:49936568C>T uc003cxy.3 - 2 1623 c.1359G>A c.(1357-1359)GTG>GTA p.V453V MST1R_uc011bdd.1_Silent_p.V453V|MST1R_uc011bde.1_Silent_p.V453V|MST1R_uc011bdf.1_Intron|MST1R_uc011bdg.1_Silent_p.V453V|MST1R_uc011bdc.1_5'Flank NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor 453 Extracellular (Potential).|Sema. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding ovary(5)|lung(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CAAGGCGTGTCACATACAATG 0.577 NA 43 97 0 0 0 0 NT5DC2 64943 broad.mit.edu 37 3 52559068 52559068 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:52559068C>G uc003deo.2 - 12 1571 c.1147G>C c.(1147-1149)GAG>CAG p.E383Q NT5DC2_uc003dem.2_Missense_Mutation_p.E253Q|NT5DC2_uc003den.2_Missense_Mutation_p.E420Q|NT5DC2_uc010hmi.2_Missense_Mutation_p.E395Q|NT5DC2_uc010hmj.2_Missense_Mutation_p.E199Q NM_022908 NP_075059 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 isoform 2 383 hydrolase activity|metal ion binding 0 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) ATCTCACGCTCCAGCTCGGGG 0.682 NA 3 14 0 0 0 0 ERC2 26059 broad.mit.edu 37 3 55717821 55717821 + Splice_Site SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:55717821C>G uc003dhr.1 - 17 3169 c.2913_splice c.e17+1 ERC2_uc003dhq.1_Splice_Site NM_015576 NP_056391 O15083 ERC2_HUMAN cytomatrix protein p110 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) TGGTTTCTCACCCCTCAAAAC 0.478 NA 4 63 0 0 0 0 ATXN7 6314 broad.mit.edu 37 3 63973786 63973786 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:63973786G>C uc003dlw.3 + 9 1700 c.1147G>C c.(1147-1149)GAT>CAT p.D383H ATXN7_uc003dlv.2_Missense_Mutation_p.D383H|ATXN7_uc010hnv.2_Missense_Mutation_p.D383H|ATXN7_uc011bfn.1_Missense_Mutation_p.D238H NM_000333 NP_000324 O15265 ATX7_HUMAN ataxin 7 isoform a 383 SCA7. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding 0 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) AAAACGATTTGATGTGTTATT 0.458 NA 74 201 0 0 0 0 MITF 4286 broad.mit.edu 37 3 70014321 70014321 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:70014321C>T uc003dnz.2 + 10 1601 c.1485C>T c.(1483-1485)TCC>TCT p.S495S MITF_uc011bgb.1_Silent_p.S443S|MITF_uc003doa.2_Silent_p.S494S|MITF_uc003dob.2_Silent_p.S479S|MITF_uc003dod.2_Silent_p.S470S|MITF_uc003doe.2_Silent_p.S388S|MITF_uc003dof.2_Silent_p.S394S NM_198159 NP_937802 O75030 MITF_HUMAN microphthalmia-associated transcription factor 501 melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription ovary(2) 2 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) CACTCCTTTCCTCAGTGTCCC 0.532 NA A melanoma Waardenburg syndrome type 2|Tietz syndrome 20 74 0 0 0 0 ROBO2 6092 broad.mit.edu 37 3 77666728 77666728 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:77666728G>C uc003dpy.3 + 22 4001 c.3358G>C c.(3358-3360)GAT>CAT p.D1120H ROBO2_uc003dpz.2_Missense_Mutation_p.D1124H|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.D1124H|ROBO2_uc003dqa.2_Missense_Mutation_p.D247H NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 1120 Cytoplasmic (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AGGTCTGGAAGATGAACTGGA 0.458 NA 31 84 0 0 0 0 GABRR3 200959 broad.mit.edu 37 3 97711819 97711819 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:97711819G>C uc011bgr.1 - 8 981 c.981C>G c.(979-981)CTC>CTG p.L327L NM_001105580 NP_001099050 A8MPY1 GBRR3_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 3 327 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity 0 CCACAGCCTTGAGGTAGGACA 0.532 NA 16 132 0 0 0 0 ST3GAL6 10402 broad.mit.edu 37 3 98512551 98512551 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:98512551C>G uc003dsz.2 + 10 1178 c.942C>G c.(940-942)CTC>CTG p.L314L ST3GAL6_uc003dsy.2_Silent_p.L228L|ST3GAL6_uc003dta.2_Silent_p.L196L|ST3GAL6_uc003dtb.2_Silent_p.L170L|ST3GAL6_uc003dtc.2_Silent_p.L314L|ST3GAL6_uc010hpd.2_Silent_p.L367L NM_006100 NP_006091 Q9Y274 SIA10_HUMAN alpha2,3-sialyltransferase VI 314 Lumenal (Potential). amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity ovary(1) 1 CAGAGCAGCTCTTTTTGAAGG 0.353 NA 36 107 0 0 0 0 ZNF80 7634 broad.mit.edu 37 3 113955429 113955429 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:113955429C>G uc010hqo.2 - 1 997 c.493G>C c.(493-495)GAA>CAA p.E165Q ZNF80_uc003ebf.2_RNA NM_007136 NP_009067 P51504 ZNF80_HUMAN zinc finger protein 80 165 C2H2-type 5. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(201;0.0233)|all_neural(597;0.0837) TTTCCACATTCTTTGCACCCA 0.488 NA 17 156 0 0 0 0 PODXL2 50512 broad.mit.edu 37 3 127390296 127390296 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:127390296C>G uc003ejq.2 + 7 1469 c.1445C>G c.(1444-1446)TCC>TGC p.S482C ABTB1_uc003ejr.2_5'Flank|ABTB1_uc003ejs.2_5'Flank|ABTB1_uc003ejt.2_5'Flank|ABTB1_uc003eju.2_5'Flank NM_015720 NP_056535 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 precursor 482 Extracellular (Potential). leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding ovary(1)|central_nervous_system(1) 2 CAGAACTATTCCACAACCAGC 0.632 NA 23 88 0 0 0 0 COL6A6 131873 broad.mit.edu 37 3 130300643 130300643 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:130300643G>C uc010htl.2 + 8 3817 c.3786G>C c.(3784-3786)CTG>CTC p.L1262L COL6A6_uc003eni.3_5'Flank NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1262 VWFA 7.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 AAAACATACTGAATAGCTTGA 0.413 NA 61 164 0 0 0 0 TF 7018 broad.mit.edu 37 3 133496034 133496034 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:133496034G>A uc003epu.1 + 21 3742 c.2014G>A c.(2014-2016)GAA>AAA p.E672K TF_uc011blt.1_Missense_Mutation_p.E545K|TF_uc003epw.1_Missense_Mutation_p.E111K|TF_uc003epv.1_Missense_Mutation_p.E672K NM_001063 NP_001054 P02787 TRFE_HUMAN transferrin precursor 672 Transferrin-like 2. E -> Q (in Ref. 12; AA sequence). cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding ovary(1)|skin(1) 2 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) ATACTTAGGAGAAGAATATGT 0.443 NA 13 40 0 0 0 0 NCK1 4690 broad.mit.edu 37 3 136664663 136664663 + Missense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:136664663C>A uc003erh.2 + 3 572 c.465C>A c.(463-465)TTC>TTA p.F155L NCK1_uc011bme.1_Missense_Mutation_p.F91L NM_006153 NP_006144 P16333 NCK1_HUMAN NCK adaptor protein 1 155 SH3 2. axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway cytosol|endoplasmic reticulum|nucleus cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity pancreas(1) 1 TTGGATGGTTCCCTTCAAACT 0.443 NA 19 169 1.16e-05 1.2e-05 1 0 C3orf58 205428 broad.mit.edu 37 3 143691432 143691432 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:143691432C>G uc003evo.2 + 1 793 c.258C>G c.(256-258)CTC>CTG p.L86L C3orf58_uc011bnl.1_5'Flank NM_173552 NP_775823 Q8NDZ4 CC058_HUMAN hypothetical protein LOC205428 isoform a 86 COPI vesicle coat|extracellular region ovary(1) 1 TGGACTTCCTCAACGTGAAGA 0.697 NA 7 48 0 0 0 0 PLOD2 5352 broad.mit.edu 37 3 145828128 145828128 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:145828128C>G uc003evs.1 - 4 952 c.446G>C c.(445-447)AGA>ACA p.R149T PLOD2_uc011bnm.1_Missense_Mutation_p.R94T|PLOD2_uc003evr.1_Missense_Mutation_p.R149T NM_000935 NP_000926 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 149 protein modification process|response to hypoxia 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 Vitamin C(DB00126) GTCTGCTAGTCTTTTATCTGG 0.388 NA 25 76 0 0 0 0 IGSF10 285313 broad.mit.edu 37 3 151155923 151155923 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:151155923C>T uc011bod.1 - 6 6426 c.6426G>A c.(6424-6426)CGG>CGA p.R2142R IGSF10_uc011bob.1_Silent_p.R169R|IGSF10_uc011boc.1_Silent_p.R121R NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 2142 Ig-like C2-type 8. cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCTGCCTTATCCGGGGAGCAG 0.458 NA 25 62 0 0 0 0 USP13 8975 broad.mit.edu 37 3 179481862 179481862 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:179481862C>G uc003fkh.2 + 18 2246 c.2165C>G c.(2164-2166)TCT>TGT p.S722C NM_003940 NP_003931 Q92995 UBP13_HUMAN ubiquitin thiolesterase 13 722 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(1) 1 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) TTTGGTGCTTCTGGACTGGAT 0.502 NA 31 98 0 0 0 0 TP63 8626 broad.mit.edu 37 3 189582183 189582183 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:189582183G>A uc003fry.2 + 5 831 c.742G>A c.(742-744)GAG>AAG p.E248K TP63_uc003frx.2_Missense_Mutation_p.E248K|TP63_uc003frz.2_Missense_Mutation_p.E248K|TP63_uc010hzc.1_Missense_Mutation_p.E248K|TP63_uc003fsa.2_Missense_Mutation_p.E154K|TP63_uc003fsb.2_Missense_Mutation_p.E154K|TP63_uc003fsc.2_Missense_Mutation_p.E154K|TP63_uc003fsd.2_Missense_Mutation_p.E154K|TP63_uc010hzd.1_Missense_Mutation_p.E69K|TP63_uc003fse.1_Missense_Mutation_p.E129K NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 248 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 12 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CCCCAACCATGAGCTGAGCCG 0.517 NA Hay-Wells_syndrome HNSCC(45;0.13) 25 64 0 0 0 0 TP63 8626 broad.mit.edu 37 3 189586432 189586432 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:189586432G>A uc003fry.2 + 8 1145 c.1056G>A c.(1054-1056)AGG>AGA p.R352R TP63_uc003frx.2_Silent_p.R352R|TP63_uc003frz.2_Silent_p.R352R|TP63_uc010hzc.1_Silent_p.R352R|TP63_uc003fsa.2_Silent_p.R258R|TP63_uc003fsb.2_Silent_p.R258R|TP63_uc003fsc.2_Silent_p.R258R|TP63_uc003fsd.2_Silent_p.R258R|TP63_uc010hzd.1_Silent_p.R173R|TP63_uc003fse.1_Silent_p.R233R NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 352 |Interaction with HIPK2. R -> G (in EDRH and OFC8). anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 12 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) GAAGAGACAGGAAGGCGGATG 0.502 NA Hay-Wells_syndrome HNSCC(45;0.13) 17 66 0 0 0 0 PIGZ 80235 broad.mit.edu 37 3 196674441 196674441 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:196674441C>G uc003fxh.2 - 3 1474 c.1327G>C c.(1327-1329)GAG>CAG p.E443Q NM_025163 NP_079439 Q86VD9 PIGZ_HUMAN phosphatidylinositol glycan anchor biosynthesis, 443 GPI anchor biosynthetic process integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity ovary(3) 3 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) ACCACCTGCTCCAGGTACTCC 0.647 NA 4 46 0 0 0 0 BDH1 622 broad.mit.edu 37 3 197259341 197259341 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:197259341G>A uc003fxr.2 - 5 611 c.209C>T c.(208-210)TCA>TTA p.S70L BDH1_uc003fxs.2_Missense_Mutation_p.S70L|BDH1_uc003fxt.2_5'UTR|BDH1_uc003fxu.2_Missense_Mutation_p.S70L NM_203314 NP_976059 Q02338 BDH_HUMAN 3-hydroxybutyrate dehydrogenase, type 1 70 NAD (By similarity). S -> A (in Ref. 3; AAH11964). cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix 3-hydroxybutyrate dehydrogenase activity ovary(1) 1 all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437) Lung NSC(153;0.118) Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06) GBM - Glioblastoma multiforme(93;0.0977) NADH(DB00157) CTTGGCCAATGAGAACCCAAA 0.473 NA 10 42 0 0 0 0 MXD4 10608 broad.mit.edu 37 4 2259719 2259719 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:2259719C>G uc003geu.1 - 3 216 c.184G>C c.(184-186)GAA>CAA p.E62Q MXD4_uc003gev.1_RNA NM_006454 NP_006445 Q14582 MAD4_HUMAN MAD4 62 Basic motif. negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|transcription corepressor activity 0 CTGTGCTTTTCTAGCTCGTTG 0.582 NA 13 47 0 0 0 0 LDB2 9079 broad.mit.edu 37 4 16590367 16590367 + Missense_Mutation SNP C C A rs142034467 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:16590367C>A uc003goz.2 - 4 813 c.497G>T c.(496-498)CGA>CTA p.R166L LDB2_uc003gpa.2_Missense_Mutation_p.R166L|LDB2_uc003gpb.2_Missense_Mutation_p.R166L|LDB2_uc011bxh.1_Missense_Mutation_p.R166L|LDB2_uc010iee.2_Missense_Mutation_p.R166L|LDB2_uc003goy.2_Missense_Mutation_p.R42L|LDB2_uc011bxi.1_Missense_Mutation_p.R42L NM_001290 NP_001281 O43679 LDB2_HUMAN LIM domain binding 2 isoform a 166 LIM domain binding|transcription cofactor activity 0 GACTAACTCTCGGTATTGTCT 0.393 NA 26 71 7.26e-15 7.76e-15 1 0 APBB2 323 broad.mit.edu 37 4 41016114 41016114 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:41016114G>A uc003gvl.2 - 6 951 c.321C>T c.(319-321)CTC>CTT p.L107L APBB2_uc003gvm.2_Silent_p.L107L|APBB2_uc003gvn.2_Silent_p.L107L|APBB2_uc011byt.1_Silent_p.L90L NM_173075 NP_775098 Q92870 APBB2_HUMAN amyloid beta A4 precursor protein-binding, 107 cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding ovary(2)|large_intestine(1) 3 CAGCCTTACGGAGCTGGTTCT 0.562 NA 23 70 0 0 0 0 KCTD8 386617 broad.mit.edu 37 4 44176989 44176989 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:44176989G>C uc003gwu.2 - 2 1524 c.1240C>G c.(1240-1242)CAG>GAG p.Q414E NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 414 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 ATGAGGGTCTGAAAGAGTTCA 0.428 NA HNSCC(17;0.042) 77 247 0 0 0 0 LNX1 84708 broad.mit.edu 37 4 54364928 54364928 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:54364928G>C uc003hag.3 - 5 1114 c.858C>G c.(856-858)CTC>CTG p.L286L PDGFRA_uc003haa.2_Intron|LNX1_uc003haf.3_Silent_p.L190L|LNX1_uc003hah.3_Intron NM_001126328 NP_001119800 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1 isoform a 286 PDZ 1. cytoplasm zinc ion binding ovary(2)|central_nervous_system(2) 4 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) GCCTAATAGAGAGGCTTTCAC 0.483 NA 21 60 0 0 0 0 EPHA5 2044 broad.mit.edu 37 4 66217204 66217204 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:66217204C>T uc003hcy.2 - 14 2604 c.2411G>A c.(2410-2412)AGA>AAA p.R804K EPHA5_uc003hcx.2_Missense_Mutation_p.R736K|EPHA5_uc003hcz.2_Missense_Mutation_p.R782K|EPHA5_uc011cah.1_Missense_Mutation_p.R805K|EPHA5_uc011cai.1_Missense_Mutation_p.R783K|EPHA5_uc003hda.2_Missense_Mutation_p.R805K NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 804 Cytoplasmic (Potential).|Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 TAAGATGTTTCTGGCAGCAAG 0.473 NA TSP Lung(17;0.13) 18 65 0 0 0 0 UBA6 55236 broad.mit.edu 37 4 68514899 68514899 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:68514899G>A uc003hdg.3 - 14 1187 c.1135C>T c.(1135-1137)CTC>TTC p.L379F UBA6_uc003hdh.1_5'UTR NM_018227 NP_060697 A0AVT1 UBA6_HUMAN ubiquitin-activating enzyme E1-like 2 379 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding 0 GTCCAAGAGAGCCAATGCACA 0.398 NA 12 49 0 0 0 0 UGT2B15 7366 broad.mit.edu 37 4 69535910 69535910 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:69535910C>T uc011cal.1 - 1 465 c.427G>A c.(427-429)GAG>AAG p.E143K NM_001076 NP_001067 P54855 UDB15_HUMAN UDP glycosyltransferase 2B15 precursor 143 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity 0 AACTTTGACTCTTGTAGTTTC 0.363 NA 95 271 0 0 0 0 UGT2A3 79799 broad.mit.edu 37 4 69816835 69816835 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:69816835G>A uc003hef.2 - 1 675 c.644C>T c.(643-645)TCA>TTA p.S215L UGT2A3_uc010ihp.1_RNA NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, 215 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(1)|skin(1) 2 GAACAAAACTGAAAGCATTGA 0.358 NA 13 33 0 0 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73149386 73149386 + Nonsense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:73149386G>A uc003hgk.1 - 22 3122 c.3085C>T c.(3085-3087)CAA>TAA p.Q1029* NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 1029 PLAC. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ACTTCCATTTGACAGAATATG 0.393 NA 25 63 0 0 0 0 PARM1 25849 broad.mit.edu 37 4 75938051 75938051 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:75938051C>G uc003hih.1 + 2 700 c.460C>G c.(460-462)CCA>GCA p.P154A NM_015393 NP_056208 Q6UWI2 PARM1_HUMAN prostatic androgen-repressed message-1 154 Extracellular (Potential). positive regulation of telomerase activity early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane ovary(1) 1 CCCTCAAGCTCCAGCCTCATC 0.587 NA 59 204 0 0 0 0 USO1 8615 broad.mit.edu 37 4 76703974 76703974 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:76703974C>G uc003hiu.2 + 8 993 c.818C>G c.(817-819)TCT>TGT p.S273C USO1_uc003hiv.2_Missense_Mutation_p.S108C|USO1_uc003hiw.2_Missense_Mutation_p.S108C NM_003715 NP_003706 O60763 USO1_HUMAN USO1 homolog, vesicle docking protein 273 ARM 5.|Globular head. intracellular protein transport|vesicle fusion with Golgi apparatus cytosol|Golgi membrane protein binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TCTGGCTGGTCTGCACAGAAA 0.328 NA 5 30 0 0 0 0 SEC31A 22872 broad.mit.edu 37 4 83791497 83791497 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:83791497G>C uc003hnf.2 - 8 1027 c.863C>G c.(862-864)TCC>TGC p.S288C SEC31A_uc003hne.2_Missense_Mutation_p.S60C|SEC31A_uc011ccl.1_Missense_Mutation_p.S288C|SEC31A_uc003hnl.2_Missense_Mutation_p.S288C|SEC31A_uc003hng.2_Missense_Mutation_p.S288C|SEC31A_uc003hnh.2_Missense_Mutation_p.S288C|SEC31A_uc003hni.2_Missense_Mutation_p.S288C|SEC31A_uc003hnj.2_Missense_Mutation_p.S288C|SEC31A_uc011ccm.1_Missense_Mutation_p.S283C|SEC31A_uc011ccn.1_Missense_Mutation_p.S288C|SEC31A_uc003hnk.2_Missense_Mutation_p.S288C|SEC31A_uc003hnm.2_Missense_Mutation_p.S288C|SEC31A_uc003hnn.1_Missense_Mutation_p.S288C|SEC31A_uc003hno.2_Missense_Mutation_p.S288C NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 288 Interaction with SEC13.|WD 5. 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) GTTTGGATTGGAGCAGAGAAT 0.408 NA 38 134 0 0 0 0 MANBA 4126 broad.mit.edu 37 4 103585971 103585971 + Nonsense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:103585971C>T uc003hwg.2 - 11 1456 c.1356G>A c.(1354-1356)TGG>TGA p.W452* MANBA_uc011ces.1_Nonsense_Mutation_p.W395* NM_005908 NP_005899 O00462 MANBA_HUMAN mannosidase, beta A, lysosomal precursor 452 carbohydrate metabolic process|protein modification process lysosome beta-mannosidase activity|cation binding ovary(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) TATTGCCACTCCATATGATGA 0.343 NA 24 73 0 0 0 0 ENPEP 2028 broad.mit.edu 37 4 111470954 111470954 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:111470954G>C uc003iab.3 + 17 2755 c.2413G>C c.(2413-2415)GAG>CAG p.E805Q NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 805 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) CTACACTCTTGAGCAATACCA 0.413 NA 22 61 0 0 0 0 C4orf21 55345 broad.mit.edu 37 4 113468485 113468485 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:113468485C>T uc003iau.2 - 24 5765 c.5554G>A c.(5554-5556)GAA>AAA p.E1852K C4orf21_uc003iav.2_RNA|C4orf21_uc003iat.2_Missense_Mutation_p.E310K NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like 674 integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) AATCCATTTTCATGAGCTGCA 0.363 NA 10 57 0 0 0 0 SEC24D 9871 broad.mit.edu 37 4 119736304 119736304 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:119736304G>C uc003ici.3 - 6 952 c.680C>G c.(679-681)TCT>TGT p.S227C SEC24D_uc003icj.3_Missense_Mutation_p.S228C|SEC24D_uc003icl.2_RNA|SEC24D_uc010imz.1_RNA|SEC24D_uc011cgg.1_RNA NM_014822 NP_055637 O94855 SC24D_HUMAN Sec24-related protein D 227 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 CTGGGGACCAGAGTTGGCTGC 0.498 NA 20 64 0 0 0 0 FAT4 79633 broad.mit.edu 37 4 126241934 126241934 + Silent SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:126241934C>A uc003ifj.3 + 1 4368 c.4368C>A c.(4366-4368)TCC>TCA p.S1456S NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1456 Cadherin 14.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GTCAACTATCCTACACAATCA 0.388 NA 27 101 4.23e-11 4.48e-11 1 0 TUBB4Q 56604 broad.mit.edu 37 4 190903695 190903695 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:190903695C>T uc011clg.1 - 4 1288 c.1285G>A c.(1285-1287)GAG>AAG p.E429K NM_020040 NP_064424 Q99867 TBB4Q_HUMAN tubulin, beta polypeptide 4, member Q 430 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity 0 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155) CCTCCTCCCTCGGCCGTGGCA 0.532 NA 84 209 0 0 0 0 PDZD2 23037 broad.mit.edu 37 5 32091009 32091009 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:32091009G>C uc003jhl.2 + 20 7843 c.7455G>C c.(7453-7455)CTG>CTC p.L2485L PDZD2_uc003jhm.2_Silent_p.L2485L NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 2485 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 TCCAGGAGCTGAGAGCCTTGA 0.607 NA 30 59 0 0 0 0 SKP2 6502 broad.mit.edu 37 5 36181975 36181975 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:36181975G>C uc003jkc.1 + 10 1299 c.1117G>C c.(1117-1119)GAT>CAT p.D373H SKP2_uc011cou.1_Missense_Mutation_p.D159H|SKP2_uc003jkd.2_Intron NM_005983 NP_005974 Q13309 SKP2_HUMAN S-phase kinase-associated protein 2 isoform 1 373 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle nucleoplasm|SCF ubiquitin ligase complex protein binding central_nervous_system(2)|ovary(1)|breast(1) 4 all_lung(31;5.63e-05) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AATCGTGCCAGATGGTACCCT 0.403 NA 65 159 0 0 0 0 WDR70 55100 broad.mit.edu 37 5 37479940 37479940 + Nonsense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:37479940C>T uc003jkv.2 + 8 749 c.691C>T c.(691-693)CAG>TAG p.Q231* WDR70_uc010iva.1_Nonsense_Mutation_p.Q231* NM_018034 NP_060504 Q9NW82 WDR70_HUMAN WD repeat domain 70 231 WD 2. ovary(1)|central_nervous_system(1) 2 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTACAGCCATCAGATCAAGTC 0.338 NA 30 107 0 0 0 0 C5orf51 285636 broad.mit.edu 37 5 41911231 41911231 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:41911231C>G uc003jmo.2 + 4 436 c.436C>G c.(436-438)CTT>GTT p.L146V NM_175921 NP_787117 A6NDU8 CE051_HUMAN hypothetical protein LOC285636 146 0 TTGTCATTCTCTTACCAAAAG 0.388 NA 16 44 0 0 0 0 PAIP1 10605 broad.mit.edu 37 5 43535702 43535702 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:43535702C>T uc003job.2 - 7 1260 c.1013G>A c.(1012-1014)GGA>GAA p.G338E PAIP1_uc003joa.2_Missense_Mutation_p.G259E|PAIP1_uc010ivp.2_Missense_Mutation_p.G259E|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.G226E NM_006451 NP_006442 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 338 MIF4G. mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity ovary(1) 1 Lung NSC(6;2.07e-05) ATCCATCTTTCCTTTTTCCTT 0.328 NA 15 46 0 0 0 0 NNT 23530 broad.mit.edu 37 5 43616149 43616149 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:43616149C>T uc003joe.2 + 4 836 c.581C>T c.(580-582)TCC>TTC p.S194F NNT_uc003jof.2_Missense_Mutation_p.S194F NM_012343 NP_036475 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 194 Mitochondrial matrix. tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding ovary(2)|central_nervous_system(1) 3 Lung NSC(6;2.58e-06) NADH(DB00157) GCGCTAAGCTCCATGGCCAAC 0.433 NA 64 133 0 0 0 0 PARP8 79668 broad.mit.edu 37 5 50091070 50091070 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:50091070G>C uc003jon.3 + 13 1429 c.1247G>C c.(1246-1248)AGA>ACA p.R416T PARP8_uc011cpz.1_Missense_Mutation_p.R308T|PARP8_uc003joo.2_Missense_Mutation_p.R416T|PARP8_uc003jop.2_Missense_Mutation_p.R416T NM_024615 NP_078891 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 416 intracellular NAD+ ADP-ribosyltransferase activity lung(3)|large_intestine(1)|ovary(1) 5 Lung NSC(810;0.0305)|Breast(144;0.222) AGTAATCTCAGAATGGAAGAA 0.418 NA 12 76 0 0 0 0 MAST4 375449 broad.mit.edu 37 5 66456300 66456300 + Nonsense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:66456300C>G uc003jut.1 + 26 3166 c.3098C>G c.(3097-3099)TCA>TGA p.S1033* MAST4_uc003juw.2_Nonsense_Mutation_p.S961* NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 1225 PDZ. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) AATAAGGTGTCAATCACTACT 0.423 NA 64 186 0 0 0 0 GCNT4 51301 broad.mit.edu 37 5 74324700 74324700 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:74324700C>T uc003kdn.2 - 1 2025 c.1163G>A c.(1162-1164)CGA>CAA p.R388Q NM_016591 NP_057675 Q9P109 GCNT4_HUMAN core 2 beta-1,6-N-acetylglucosaminyltransferase 388 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(2)|skin(1) 3 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) ACACACGCTTCGAAGGTGAGA 0.418 NA 24 64 0 0 0 0 HMGCR 3156 broad.mit.edu 37 5 74646146 74646146 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:74646146G>A uc003kdp.2 + 8 883 c.727G>A c.(727-729)GAA>AAA p.E243K HMGCR_uc011cst.1_Missense_Mutation_p.E263K|HMGCR_uc003kdq.2_Missense_Mutation_p.E243K|HMGCR_uc010izn.1_Intron NM_000859 NP_000850 P04035 HMDH_HUMAN 3-hydroxy-3-methylglutaryl-Coenzyme A reductase 243 cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding ovary(1) 1 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) CCGAGTTTTAGAAGAAGAAGA 0.413 NA 5 65 0 0 0 0 S100Z 170591 broad.mit.edu 37 5 76171314 76171314 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:76171314G>A uc003kep.1 + 3 460 c.130G>A c.(130-132)GAA>AAA p.E44K S100Z_uc003keq.3_Missense_Mutation_p.E44K NM_130772 NP_570128 Q8WXG8 S100Z_HUMAN S100 calcium binding protein Z 44 EF-hand 1. calcium ion binding ovary(1) 1 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40) AGAGCTCACGGAATTCCTCTC 0.493 NA 32 111 0 0 0 0 ATP6AP1L 92270 broad.mit.edu 37 5 81613993 81613993 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:81613993C>T uc003khv.2 + 10 1874 c.549C>T c.(547-549)ATC>ATT p.I183I ATP6AP1L_uc003khw.2_Silent_p.I183I NM_001017971 NP_001017971 Q52LC2 VAS1L_HUMAN ATPase, H+ transporting, lysosomal accessory 183 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism 0 ATGATCTCATCGCCTCTCCTG 0.557 NA 17 70 0 0 0 0 CETN3 1070 broad.mit.edu 37 5 89705476 89705476 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:89705476C>T uc003kjo.2 - 1 128 c.3G>A c.(1-3)ATG>ATA p.M1I NM_004365 NP_004356 O15182 CETN3_HUMAN centrin 3 1 cell division|centrosome cycle|mitosis centriole calcium ion binding 0 all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23) GAGCTAAACTCATTATCTCTT 0.582 NA 38 114 0 0 0 0 NR2F1 7025 broad.mit.edu 37 5 92929548 92929548 + Nonstop_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:92929548G>C uc003kkj.2 + 3 2959 c.1272G>C c.(1270-1272)TAG>TAC p.*424Y NM_005654 NP_005645 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 424 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding urinary_tract(1)|ovary(1)|lung(1) 3 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) AGTGCTCCTAGACCTTGGGCG 0.597 NA 8 85 0 0 0 0 FBN2 2201 broad.mit.edu 37 5 127654636 127654636 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:127654636G>C uc003kuu.2 - 35 4968 c.4529C>G c.(4528-4530)CCT>CGT p.P1510R NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1510 EGF-like 25; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) AAACATTCCAGGCAGGTTATT 0.358 NA 5 113 0 0 0 0 SLC27A6 28965 broad.mit.edu 37 5 128364098 128364098 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:128364098C>T uc003kuy.2 + 9 1911 c.1515C>T c.(1513-1515)TTC>TTT p.F505F SLC27A6_uc003kuz.2_Silent_p.F505F NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 505 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding 0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TGTTGGATTTCATACAGGAAG 0.343 NA 18 68 0 0 0 0 SPOCK1 6695 broad.mit.edu 37 5 136403477 136403477 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:136403477G>A uc003lbo.2 - 5 707 c.516C>T c.(514-516)CTC>CTT p.L172L SPOCK1_uc003lbp.2_Silent_p.L172L NM_004598 NP_004589 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains 172 Kazal-like. cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGAGGGTGGCGAGGCTTTTGC 0.527 NA 48 159 0 0 0 0 KLHL3 26249 broad.mit.edu 37 5 136964011 136964011 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:136964011G>A uc010jek.2 - 13 2010 c.1566C>T c.(1564-1566)GAC>GAT p.D522D KLHL3_uc011cyc.1_Silent_p.D257D|KLHL3_uc003lbr.3_Silent_p.D440D|KLHL3_uc011cyd.1_RNA NM_017415 NP_059111 Q9UH77 KLHL3_HUMAN kelch-like 3 522 Kelch 5. cytoplasm|cytoskeleton actin binding|structural molecule activity 0 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) ACATGTTCATGTCTGCCACTT 0.547 NA 29 195 0 0 0 0 KLHL3 26249 broad.mit.edu 37 5 137028128 137028128 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:137028128G>A uc010jek.2 - 5 816 c.372C>T c.(370-372)CTC>CTT p.L124L KLHL3_uc003lbr.3_Silent_p.L42L|KLHL3_uc011cyd.1_RNA|MYOT_uc011cye.1_Intron|KLHL3_uc010jem.1_Silent_p.L84L|KLHL3_uc010jen.1_RNA|KLHL3_uc003lbs.1_5'UTR NM_017415 NP_059111 Q9UH77 KLHL3_HUMAN kelch-like 3 124 cytoplasm|cytoskeleton actin binding|structural molecule activity 0 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) TGGCTGCCGGGAGCAGCACCT 0.527 NA 8 43 0 0 0 0 BRD8 10902 broad.mit.edu 37 5 137497522 137497522 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:137497522C>T uc003lcf.1 - 17 2267 c.2212G>A c.(2212-2214)GAT>AAT p.D738N BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Missense_Mutation_p.D517N|BRD8_uc003lcg.2_Missense_Mutation_p.D811N|BRD8_uc003lci.2_Missense_Mutation_p.D741N|BRD8_uc003lch.2_Missense_Mutation_p.D632N|BRD8_uc011cym.1_Missense_Mutation_p.D722N|BRD8_uc010jer.1_Missense_Mutation_p.D707N|BRD8_uc011cyn.1_Missense_Mutation_p.D697N NM_139199 NP_631938 Q9H0E9 BRD8_HUMAN bromodomain containing 8 isoform 2 738 Bromo 1. cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GCTATGTCATCTGTAACAGGC 0.463 NA 16 65 0 0 0 0 KDM3B 51780 broad.mit.edu 37 5 137754821 137754821 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:137754821G>A uc003lcy.1 + 14 3815 c.3615G>A c.(3613-3615)CTG>CTA p.L1205L KDM3B_uc010jew.1_Silent_p.L861L|KDM3B_uc011cys.1_Silent_p.L237L NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN jumonji domain containing 1B 1205 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1) 11 ATAGTGAACTGAAAGCCATCA 0.522 NA 20 50 0 0 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236754 140236754 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:140236754C>G uc003lhx.2 + 1 1121 c.1121C>G c.(1120-1122)TCT>TGT p.S374C PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.S374C|PCDHA10_uc011dad.1_Missense_Mutation_p.S374C NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 374 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCAGCGTTTCTGACCATGAT 0.488 NA 33 133 0 0 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236766 140236766 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:140236766C>T uc003lhx.2 + 1 1133 c.1133C>T c.(1132-1134)TCA>TTA p.S378L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.S378L|PCDHA10_uc011dad.1_Missense_Mutation_p.S378L NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 378 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACCATGATTCAGGAGCCAAC 0.512 NA 32 136 0 0 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140764372 140764372 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:140764372G>C uc003lka.1 + 1 1906 c.1906G>C c.(1906-1908)GAT>CAT p.D636H PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.D636H NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 636 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGGACAGAGATGCCCTCAA 0.652 NA 16 46 0 0 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140774356 140774356 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:140774356C>T uc003lkd.1 + 1 2874 c.1976C>T c.(1975-1977)ACG>ATG p.T659M PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.T659M NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 659 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCACTGTCACGCTCACCGTA 0.642 NA 10 36 0 0 0 0 PCDHGA10 56106 broad.mit.edu 37 5 140793078 140793078 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:140793078C>G uc003lkl.1 + 1 336 c.336C>G c.(334-336)ATC>ATG p.I112M PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.I112M NM_018913 NP_061736 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 isoform 1 112 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTTTAATATCCTTGTGGAAG 0.488 NA 42 99 0 0 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142283207 142283207 + Nonsense_Mutation SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:142283207G>T uc011dbj.1 + 8 840 c.805G>T c.(805-807)GAG>TAG p.E269* ARHGAP26_uc003lmt.2_Nonsense_Mutation_p.E269*|ARHGAP26_uc003lmw.2_Nonsense_Mutation_p.E269* NM_015071 NP_055886 Q9UNA1 RHG26_HUMAN GTPase regulator associated with the focal 269 PH. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(1) 1 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTACACCATGGAGGGATACCT 0.473 NA 22 73 2.89e-11 3.06e-11 1 0 SLC36A2 153201 broad.mit.edu 37 5 150723127 150723127 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:150723127G>A uc003lty.2 - 3 418 c.288C>T c.(286-288)TTC>TTT p.F96F GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_5'UTR|SLC36A2_uc010jhv.2_Silent_p.F96F|SLC36A2_uc011dct.1_Silent_p.F96F NM_181776 NP_861441 Q495M3 S36A2_HUMAN solute carrier family 36, member 2 96 Helical; (Potential). cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGCAGGCAATGAAGCCCATCA 0.527 NA 31 109 0 0 0 0 G3BP1 10146 broad.mit.edu 37 5 151169928 151169928 + Nonsense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:151169928C>G uc003lun.2 + 3 311 c.140C>G c.(139-141)TCA>TGA p.S47* G3BP1_uc010jhy.1_Nonsense_Mutation_p.S47*|G3BP1_uc003lum.2_Nonsense_Mutation_p.S47*|G3BP1_uc011dcu.1_5'UTR|G3BP1_uc010jhz.2_5'UTR NM_005754 NP_005745 Q13283 G3BP1_HUMAN Ras-GTPase-activating protein SH3-domain-binding 47 NTF2. Ras protein signal transduction|transport cytosol|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding skin(3)|ovary(1) 4 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) GGATTGGATTCAAATGGAAAG 0.343 NA 6 30 0 0 0 0 SLIT3 6586 broad.mit.edu 37 5 168127613 168127613 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:168127613C>G uc003mab.2 - 27 3336 c.2916G>C c.(2914-2916)CTG>CTC p.L972L SLIT3_uc010jjg.2_Silent_p.L979L NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 972 EGF-like 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGCTGTCACTCAGGTGGCAGG 0.453 NA 27 71 0 0 0 0 GPRIN1 114787 broad.mit.edu 37 5 176026363 176026363 + Nonsense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:176026363G>C uc003meo.1 - 2 648 c.473C>G c.(472-474)TCA>TGA p.S158* NM_052899 NP_443131 Q7Z2K8 GRIN1_HUMAN G protein-regulated inducer of neurite outgrowth 158 growth cone|plasma membrane ovary(2) 2 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCCTGCTTTGAGGACTTGAA 0.502 NA 42 108 0 0 0 0 ZFP2 80108 broad.mit.edu 37 5 178358745 178358745 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:178358745C>T uc003mjn.1 + 5 940 c.431C>T c.(430-432)TCC>TTC p.S144F ZFP2_uc010jky.2_Missense_Mutation_p.S144F|ZFP2_uc010jkx.1_Missense_Mutation_p.S144F NM_030613 NP_085116 Q6ZN57 ZFP2_HUMAN zinc finger protein 2 homolog 144 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) GAACGATCCTCCCTTACTGTA 0.403 NA 19 58 0 0 0 0 ZFP2 80108 broad.mit.edu 37 5 178359095 178359095 + Nonsense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:178359095C>T uc003mjn.1 + 5 1290 c.781C>T c.(781-783)CAG>TAG p.Q261* ZFP2_uc010jky.2_Nonsense_Mutation_p.Q261*|ZFP2_uc010jkx.1_Nonsense_Mutation_p.Q261* NM_030613 NP_085116 Q6ZN57 ZFP2_HUMAN zinc finger protein 2 homolog 261 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) TATTGTACATCAGAGAAGCCA 0.398 NA 23 76 0 0 0 0 HLA-A 3105 broad.mit.edu 37 6 29910683 29910683 + Missense_Mutation SNP T T C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:29910683T>C uc003nol.2 + 2 223 c.223T>C c.(223-225)TGG>CGG p.W75R HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Missense_Mutation_p.W75R|HLA-A_uc003noo.2_Missense_Mutation_p.W75R|HLA-A_uc010jrr.2_Missense_Mutation_p.W75R|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Missense_Mutation_p.W47R|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank NM_002116 NP_002107 P30443 1A01_HUMAN major histocompatibility complex, class I, A 75 Extracellular (Potential).|Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 GCGGGCGCCGTGGATAGAGCA 0.677 NA Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of Multiple Myeloma(9;0.094) 11 16 0 0 0 0 EGFL8 80864 broad.mit.edu 37 6 32135415 32135415 + Missense_Mutation SNP G G C rs17853434 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:32135415G>C uc003oab.1 + 8 875 c.817G>C c.(817-819)GAG>CAG p.E273Q PPT2_uc003nzy.1_RNA|EGFL8_uc003oac.1_Missense_Mutation_p.E273Q NM_030652 NP_085155 Q99944 EGFL8_HUMAN NG3 protein precursor 273 E -> Q (in Ref. 6; AAH35574). extracellular region|integral to membrane calcium ion binding 0 GCTGCTGCTGGAGGAGAGGCT 0.612 NA 23 28 0 0 0 0 BRD2 6046 broad.mit.edu 37 6 32942323 32942323 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:32942323C>T uc003ocn.3 + 3 1815 c.114C>T c.(112-114)CTC>CTT p.L38L BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Silent_p.L38L|BRD2_uc003ocp.3_5'UTR|BRD2_uc010juh.2_Silent_p.L38L NM_005104 NP_005095 P25440 BRD2_HUMAN bromodomain containing 2 38 spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 AACCCTCTCTCTTGTATGAGG 0.582 NA 10 80 0 0 0 0 ANKS1A 23294 broad.mit.edu 37 6 35027938 35027938 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:35027938G>A uc003ojx.3 + 13 2234 c.2092G>A c.(2092-2094)GAG>AAG p.E698K ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Missense_Mutation_p.E238K|ANKS1A_uc010jvp.1_Missense_Mutation_p.E72K NM_015245 NP_056060 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain 698 SAM 1. cytoplasm protein binding ovary(3)|upper_aerodigestive_tract(1) 4 ACGGACGCTGGAGCAGAGTGT 0.527 NA 6 17 0 0 0 0 DEF6 50619 broad.mit.edu 37 6 35280429 35280429 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:35280429G>A uc003okk.2 + 5 726 c.687G>A c.(685-687)CTG>CTA p.L229L DEF6_uc010jvs.2_Silent_p.L229L|DEF6_uc010jvt.2_Intron NM_022047 NP_071330 Q9H4E7 DEFI6_HUMAN differentially expressed in FDCP 6 homolog 229 PH. cytoplasm|nucleus|plasma membrane 0 GAGGGCACCTGAGAAGGAACT 0.612 NA 3 29 0 0 0 0 SRPK1 6732 broad.mit.edu 37 6 35888247 35888247 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:35888247C>T uc003olj.2 - 2 195 c.72G>A c.(70-72)AGG>AGA p.R24R SRPK1_uc003olh.2_5'UTR|SRPK1_uc003oli.2_5'UTR NM_003137 NP_003128 Q96SB4 SRPK1_HUMAN SFRS protein kinase 1 24 cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing cytoplasm|nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 AGACTCACTTCCTTTGGGCTT 0.542 NA 59 102 0 0 0 0 STK38 11329 broad.mit.edu 37 6 36475338 36475338 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:36475338C>T uc003omg.2 - 7 1299 c.711G>A c.(709-711)CTG>CTA p.L237L STK38_uc003omh.2_Silent_p.L237L|STK38_uc003omi.2_Silent_p.L237L NM_007271 NP_009202 Q15208 STK38_HUMAN serine/threonine kinase 38 237 Protein kinase. intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 6 GTGCTTTTTTCAGTCCTGTGC 0.408 NA 92 176 0 0 0 0 DNAH8 1769 broad.mit.edu 37 6 38791364 38791364 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:38791364G>C uc003ooe.1 + 26 3696 c.3096G>C c.(3094-3096)CTG>CTC p.L1032L NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 ACCCCTCTCTGACTGAAATCA 0.318 NA 11 61 0 0 0 0 FOXP4 116113 broad.mit.edu 37 6 41552527 41552527 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:41552527G>A uc003oql.2 + 4 779 c.321G>A c.(319-321)ATG>ATA p.M107I FOXP4_uc003oqm.2_Missense_Mutation_p.M107I|FOXP4_uc003oqn.2_Missense_Mutation_p.M107I NM_001012426 NP_001012426 Q8IVH2 FOXP4_HUMAN forkhead box P4 isoform 1 107 Gln-rich. embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding breast(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) CGGTGGCCATGATGTCGCCGC 0.662 NA 3 6 0 0 0 0 TRERF1 55809 broad.mit.edu 37 6 42227372 42227372 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:42227372C>T uc003osd.2 - 9 2537 c.1974G>A c.(1972-1974)CCG>CCA p.P658P TRERF1_uc011duq.1_Silent_p.P575P|TRERF1_uc003osb.2_Silent_p.P414P|TRERF1_uc003osc.2_Silent_p.P414P|TRERF1_uc003ose.2_Silent_p.P678P NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 658 Pro-rich.|Interacts with CREBBP. P -> S (in Ref. 2; CAB88206/CAB88207). cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) AGAGAGGTTCCGGCCGGTGCC 0.652 NA 21 66 0 0 0 0 YIPF3 25844 broad.mit.edu 37 6 43480834 43480834 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:43480834G>A uc003ovl.1 - 6 796 c.639C>T c.(637-639)ATC>ATT p.I213I C6orf154_uc003ovk.1_5'Flank|YIPF3_uc011dvk.1_Silent_p.I178I|YIPF3_uc010jyr.1_Silent_p.I219I|YIPF3_uc010jys.1_Silent_p.I56I|YIPF3_uc003ovm.1_Silent_p.I87I|YIPF3_uc010jyt.1_Silent_p.I162I NM_015388 NP_056203 Q9GZM5 YIPF3_HUMAN natural killer cell-specific antigen KLIP1 213 cell differentiation integral to membrane|plasma membrane|transport vesicle 0 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) GCAGCATGGTGATCTGGGCGT 0.562 NA 52 154 0 0 0 0 RUNX2 860 broad.mit.edu 37 6 45514677 45514677 + Missense_Mutation SNP A A C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:45514677A>C uc011dvx.1 + 9 1411 c.1201A>C c.(1201-1203)ACC>CCC p.T401P RUNX2_uc011dvy.1_Missense_Mutation_p.T379P|RUNX2_uc003oxt.2_Missense_Mutation_p.T387P NM_001024630 NP_001019801 Q13950 RUNX2_HUMAN runt-related transcription factor 2 isoform a 401 Interaction with MYST3 (By similarity).|Pro/Ser/Thr-rich.|Interaction with MYST4. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 CTTTACTTACACCCCGCCAGT 0.587 NA 7 63 0 0 0 0 GPR116 221395 broad.mit.edu 37 6 46851916 46851916 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:46851916C>G uc003oyo.3 - 5 710 c.421G>C c.(421-423)GAG>CAG p.E141Q GPR116_uc003oyp.3_Missense_Mutation_p.E141Q|GPR116_uc003oyq.3_Missense_Mutation_p.E141Q|GPR116_uc003oyr.2_Missense_Mutation_p.E141Q NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 141 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|skin(1) 2 Lung(136;0.192) ACGTCACGCTCTTGACAAATG 0.502 NA 17 125 0 0 0 0 GPR110 266977 broad.mit.edu 37 6 46977116 46977116 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:46977116C>T uc003oyt.2 - 11 2254 c.2055G>A c.(2053-2055)CGG>CGA p.R685R GPR110_uc011dwl.1_Silent_p.R373R NM_153840 NP_722582 Q5T601 GP110_HUMAN G-protein coupled receptor 110 isoform 1 685 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|pancreas(1) 3 CGAGGATGATCCGGTAAGCCA 0.483 NA 15 47 0 0 0 0 GPR110 266977 broad.mit.edu 37 6 46977149 46977149 + Nonsense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:46977149C>T uc003oyt.2 - 11 2221 c.2022G>A c.(2020-2022)TGG>TGA p.W674* GPR110_uc011dwl.1_Nonsense_Mutation_p.W362* NM_153840 NP_722582 Q5T601 GP110_HUMAN G-protein coupled receptor 110 isoform 1 674 Helical; Name=3; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|pancreas(1) 3 GCATGAGCATCCAGAAGAACA 0.498 NA 11 48 0 0 0 0 GPR110 266977 broad.mit.edu 37 6 46977208 46977208 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:46977208C>T uc003oyt.2 - 11 2162 c.1963G>A c.(1963-1965)GGA>AGA p.G655R GPR110_uc011dwl.1_Missense_Mutation_p.G343R NM_153840 NP_722582 Q5T601 GP110_HUMAN G-protein coupled receptor 110 isoform 1 655 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|pancreas(1) 3 GTGCAGACTCCAGAAGGGTTC 0.498 NA 7 33 0 0 0 0 GPR110 266977 broad.mit.edu 37 6 46977266 46977266 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:46977266C>G uc003oyt.2 - 11 2104 c.1905G>C c.(1903-1905)TTG>TTC p.L635F GPR110_uc011dwl.1_Missense_Mutation_p.L323F NM_153840 NP_722582 Q5T601 GP110_HUMAN G-protein coupled receptor 110 isoform 1 635 Helical; Name=2; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|pancreas(1) 3 CATCAGCAATCAAGAGGGACA 0.468 NA 8 40 0 0 0 0 GPR110 266977 broad.mit.edu 37 6 46977332 46977332 + Missense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:46977332C>A uc003oyt.2 - 11 2038 c.1839G>T c.(1837-1839)CAG>CAT p.Q613H GPR110_uc011dwl.1_Missense_Mutation_p.Q301H NM_153840 NP_722582 Q5T601 GP110_HUMAN G-protein coupled receptor 110 isoform 1 613 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|pancreas(1) 3 TTTTTTTAATCTGCTTCCAAA 0.443 NA 10 50 3.86e-05 3.98e-05 1 0 GPR110 266977 broad.mit.edu 37 6 46977338 46977338 + Nonsense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:46977338C>T uc003oyt.2 - 11 2032 c.1833G>A c.(1831-1833)TGG>TGA p.W611* GPR110_uc011dwl.1_Nonsense_Mutation_p.W299* NM_153840 NP_722582 Q5T601 GP110_HUMAN G-protein coupled receptor 110 isoform 1 611 Helical; Name=1; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|pancreas(1) 3 TAATCTGCTTCCAAAACAAAG 0.438 NA 12 53 0 0 0 0 GPR110 266977 broad.mit.edu 37 6 46977410 46977410 + Missense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:46977410C>A uc003oyt.2 - 11 1960 c.1761G>T c.(1759-1761)TGG>TGT p.W587C GPR110_uc011dwl.1_Missense_Mutation_p.W275C NM_153840 NP_722582 Q5T601 GP110_HUMAN G-protein coupled receptor 110 isoform 1 587 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|pancreas(1) 3 CATAGGTGATCCATTTTACAA 0.433 NA 18 91 5.26e-13 5.61e-13 1 0 GPR110 266977 broad.mit.edu 37 6 46977535 46977535 + Missense_Mutation SNP C C T rs112946460 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:46977535C>T uc003oyt.2 - 11 1835 c.1636G>A c.(1636-1638)GAT>AAT p.D546N GPR110_uc011dwl.1_Missense_Mutation_p.D234N NM_153840 NP_722582 Q5T601 GP110_HUMAN G-protein coupled receptor 110 isoform 1 546 GPS.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|pancreas(1) 3 CAgcctgcatcgttccactgc 0.264 NA 13 43 0 0 0 0 GPR110 266977 broad.mit.edu 37 6 46977656 46977656 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:46977656C>G uc003oyt.2 - 11 1714 c.1515G>C c.(1513-1515)GTG>GTC p.V505V GPR110_uc011dwl.1_Silent_p.V193V NM_153840 NP_722582 Q5T601 GP110_HUMAN G-protein coupled receptor 110 isoform 1 505 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|pancreas(1) 3 CCGTGGATATCACAGGTCCAT 0.313 NA 20 82 0 0 0 0 GPR110 266977 broad.mit.edu 37 6 46977742 46977742 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:46977742C>T uc003oyt.2 - 11 1628 c.1429G>A c.(1429-1431)GAA>AAA p.E477K GPR110_uc011dwl.1_Missense_Mutation_p.E165K NM_153840 NP_722582 Q5T601 GP110_HUMAN G-protein coupled receptor 110 isoform 1 477 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|pancreas(1) 3 ATAATAGTTTCTGGAAGGGAT 0.443 NA 22 77 0 0 0 0 CRISP3 10321 broad.mit.edu 37 6 49698947 49698947 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:49698947C>T uc003ozs.2 - 7 554 c.539G>A c.(538-540)AGA>AAA p.R180K NM_006061 NP_006052 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 precursor 180 innate immune response proteinaceous extracellular matrix|specific granule skin(2) 2 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) GACATATAGTCTATTAGCCCA 0.333 NA 17 54 0 0 0 0 SENP6 26054 broad.mit.edu 37 6 76407199 76407199 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:76407199G>C uc003pid.3 + 18 2873 c.2254G>C c.(2254-2256)GAG>CAG p.E752Q SENP6_uc003pie.3_Missense_Mutation_p.E745Q|SENP6_uc010kbf.2_RNA NM_015571 NP_056386 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 isoform 1 752 Protease. proteolysis cytoplasm|nucleus cysteine-type peptidase activity breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1) 6 all_hematologic(105;0.189) AGATATTTTTGAGAAGGATTT 0.303 NA 10 25 0 0 0 0 TCF21 6943 broad.mit.edu 37 6 134212923 134212923 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:134212923G>A uc003qei.3 + 2 799 c.523G>A c.(523-525)GGA>AGA p.G175R uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.G175R NM_003206 NP_003197 O43680 TCF21_HUMAN transcription factor 21 175 branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity 0 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) CCGCTTATGTGGAACCACCGC 0.657 NA 11 34 0 0 0 0 HECA 51696 broad.mit.edu 37 6 139487747 139487747 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:139487747G>A uc003qin.2 + 2 883 c.598G>A c.(598-600)GAG>AAG p.E200K NM_016217 NP_057301 Q9UBI9 HDC_HUMAN headcase 200 respiratory tube development 0 GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387) GATGCAGGACGAGAAAAAGAA 0.582 NA 37 45 0 0 0 0 MICALL2 79778 broad.mit.edu 37 7 1479682 1479682 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:1479682C>T uc003skj.3 - 9 1992 c.1845G>A c.(1843-1845)CCG>CCA p.P615P MICALL2_uc003skh.3_5'Flank|MICALL2_uc003ski.3_Silent_p.P102P NM_182924 NP_891554 Q8IY33 MILK2_HUMAN MICAL-like 2 isoform 1 615 cytoplasm|cytoskeleton zinc ion binding central_nervous_system(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) CCCCCGCCCTCGGCTCTGCCA 0.687 NA 28 61 0 0 0 0 KIAA0415 9907 broad.mit.edu 37 7 4830913 4830913 + Missense_Mutation SNP T T A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:4830913T>A uc003sne.2 + 17 2404 c.2321T>A c.(2320-2322)GTG>GAG p.V774E KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_Missense_Mutation_p.V251E NM_014855 NP_055670 O43299 K0415_HUMAN hypothetical protein LOC9907 774 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding central_nervous_system(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15) AGCACGGAGGTGTGCAGCCCC 0.697 NA 8 21 0 0 0 0 GLCCI1 113263 broad.mit.edu 37 7 8062158 8062158 + Missense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:8062158C>A uc003srk.2 + 3 1214 c.655C>A c.(655-657)CAG>AAG p.Q219K NM_138426 NP_612435 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 219 0 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) GAGGTCACATCAGCGTTCTGC 0.363 NA 7 99 5.18e-06 5.37e-06 1 0 DNAH11 8701 broad.mit.edu 37 7 21695520 21695520 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:21695520C>T uc003svc.2 + 29 5061 c.5030C>T c.(5029-5031)TCT>TTT p.S1677F NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1677 Stem (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 CAGGATGTTTCTGCACACAGG 0.403 NA Kartagener_syndrome 7 49 0 0 0 0 VPS41 27072 broad.mit.edu 37 7 38785177 38785177 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:38785177C>G uc003tgy.2 - 23 1989 c.1963G>C c.(1963-1965)GAG>CAG p.E655Q VPS41_uc003tgz.2_Missense_Mutation_p.E630Q|VPS41_uc010kxn.2_Missense_Mutation_p.E566Q|VPS41_uc003tgx.2_RNA NM_014396 NP_055211 P49754 VPS41_HUMAN vacuolar protein sorting 41 isoform 1 655 Clathrin. Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 TAAACTGTCTCTTCTACAAAG 0.338 NA 45 154 0 0 0 0 POM121L12 285877 broad.mit.edu 37 7 53103800 53103800 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:53103800C>T uc003tpz.2 + 1 452 c.436C>T c.(436-438)CGT>TGT p.R146C NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 146 0 GCCCCCTGAGCGTCAGGAGAG 0.577 NA 13 29 0 0 0 0 HGF 3082 broad.mit.edu 37 7 81334827 81334827 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:81334827C>G uc003uhl.2 - 17 2054 c.1889G>C c.(1888-1890)CGA>CCA p.R630P HGF_uc003uhm.2_Missense_Mutation_p.R625P NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 630 Peptidase S1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 ATGTGCCACTCGTAATAGGCC 0.368 NA 8 53 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82583504 82583504 + Silent SNP A A C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:82583504A>C uc003uhx.2 - 5 7054 c.6765T>G c.(6763-6765)GGT>GGG p.G2255G PCLO_uc003uhv.2_Silent_p.G2255G|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2186 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CACTAGCTCTACCATCTGGTG 0.393 NA 9 76 0 0 0 0 ABCB4 5244 broad.mit.edu 37 7 87072722 87072722 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:87072722C>T uc003uiv.1 - 12 1345 c.1269G>A c.(1267-1269)CAG>CAA p.Q423Q ABCB4_uc003uiw.1_Silent_p.Q423Q|ABCB4_uc003uix.1_Silent_p.Q423Q NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 423 ABC transporter 1.|Cytoplasmic (By similarity). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) GGGCCACCGTCTGCCCACTCT 0.493 NA 10 84 0 0 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95434085 95434085 + Missense_Mutation SNP A A G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:95434085A>G uc003uoc.3 + 2 321 c.44A>G c.(43-45)AAG>AGG p.K15R DYNC1I1_uc003uod.3_Missense_Mutation_p.K15R|DYNC1I1_uc003uob.2_Missense_Mutation_p.K15R|DYNC1I1_uc003uoe.3_Missense_Mutation_p.K15R|DYNC1I1_uc010lfl.2_Missense_Mutation_p.K21R NM_004411 NP_004402 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 15 Interaction with DCTN1 (By similarity). vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity ovary(3)|kidney(1) 4 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) GAGCGCAAAAAGCAGCGCTTA 0.294 NA 3 5 0 0 0 0 ZAN 7455 broad.mit.edu 37 7 100350144 100350144 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:100350144G>A uc003uwj.2 + 14 2581 c.2416G>A c.(2416-2418)GAG>AAG p.E806K ZAN_uc003uwk.2_Missense_Mutation_p.E806K|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 806 66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CACCCCCACTGAGGAGACCAC 0.527 NA 9 74 0 0 0 0 CUX1 1523 broad.mit.edu 37 7 101813790 101813790 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:101813790C>G uc003uyx.3 + 10 826 c.788C>G c.(787-789)TCC>TGC p.S263C CUX1_uc003uys.3_Missense_Mutation_p.S274C|CUX1_uc003uyt.2_Missense_Mutation_p.S274C|CUX1_uc011kkn.1_Missense_Mutation_p.S237C|CUX1_uc003uyw.2_Missense_Mutation_p.S228C|CUX1_uc003uyv.2_Missense_Mutation_p.S258C|CUX1_uc003uyu.2_Missense_Mutation_p.S274C NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 263 Potential. negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 GCCAATCACTCCCTCCAGCTG 0.602 NA 2 7 0 0 0 0 ALKBH4 54784 broad.mit.edu 37 7 102100194 102100194 + Nonsense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:102100194C>A uc003uzl.2 - 2 183 c.178G>T c.(178-180)GAG>TAG p.E60* ALKBH4_uc003uzm.2_Intron NM_017621 NP_060091 Q9NXW9 ALKB4_HUMAN alkB, alkylation repair homolog 4 60 cytoplasm|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 AAGTCAGACTCCTCTGTGCCC 0.493 NA 13 77 1.5e-05 1.55e-05 1 0 PUS7 54517 broad.mit.edu 37 7 105146708 105146708 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:105146708G>A uc003vcx.2 - 3 630 c.411C>T c.(409-411)TTC>TTT p.F137F PUS7_uc010lji.2_Silent_p.F137F|PUS7_uc003vcy.2_Silent_p.F137F|PUS7_uc003vcz.1_Silent_p.F137F NM_019042 NP_061915 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog 137 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1) 1 CATGAACAACGAAGTCGGAGT 0.363 NA 7 34 0 0 0 0 NAMPT 10135 broad.mit.edu 37 7 105893498 105893498 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:105893498C>G uc003vdq.2 - 10 1638 c.1330G>C c.(1330-1332)GAG>CAG p.E444Q NM_005746 NP_005737 P43490 NAMPT_HUMAN nicotinamide phosphoribosyltransferase 444 cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process cytosol cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity large_intestine(1) 1 TTTCCTTCCTCCAGTGTAACA 0.408 NA 10 55 0 0 0 0 FOXP2 93986 broad.mit.edu 37 7 114329955 114329955 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:114329955G>A uc003vhb.2 + 17 2496 c.2122G>A c.(2122-2124)GAG>AAG p.E708K FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.E733K|FOXP2_uc003vha.2_Missense_Mutation_p.E616K|FOXP2_uc011kmu.1_Missense_Mutation_p.E725K|FOXP2_uc011kmv.1_Missense_Mutation_p.E707K|FOXP2_uc010ljz.1_Missense_Mutation_p.E523K NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 708 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 GATTGAAGAAGAGCCTTTATC 0.438 NA 9 60 0 0 0 0 CADPS2 93664 broad.mit.edu 37 7 122261717 122261717 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:122261717C>G uc010lkp.2 - 5 1085 c.922G>C c.(922-924)GAG>CAG p.E308Q CADPS2_uc003vkg.3_Missense_Mutation_p.E8Q|CADPS2_uc010lkq.2_Missense_Mutation_p.E308Q NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 308 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 GACCGCAACTCTTCTATATAC 0.299 NA 9 48 0 0 0 0 RBM28 55131 broad.mit.edu 37 7 127975631 127975631 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:127975631C>G uc003vmp.2 - 8 1027 c.912G>C c.(910-912)CAG>CAC p.Q304H RBM28_uc003vmo.2_5'UTR|RBM28_uc011koj.1_Missense_Mutation_p.Q163H|RBM28_uc011kok.1_Missense_Mutation_p.Q251H NM_018077 NP_060547 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 304 mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding ovary(2) 2 TGGTATCACTCTGAGCCAGTT 0.423 NA 5 37 0 0 0 0 NUP205 23165 broad.mit.edu 37 7 135289087 135289087 + Splice_Site SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:135289087G>C uc003vsw.2 + 19 2734 c.2703_splice c.e19-1 p.R901_splice NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 TTTCTTTAAAGATACCTATAT 0.279 NA 7 23 0 0 0 0 BRAF 673 broad.mit.edu 37 7 140453110 140453110 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:140453110G>C uc003vwc.3 - 15 1886 c.1825C>G c.(1825-1827)CAG>GAG p.Q609E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 609 Protein kinase. activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.Q609R(1)|p.Q609Q(1)|p.Q609*(1) KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) TGTTCAAACTGATGGGACCCA 0.393 61 Mis|T|O AKAP9|KIAA1549 melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous_syndrome 10 52 0 0 0 0 CUL1 8454 broad.mit.edu 37 7 148495716 148495716 + Nonsense_Mutation SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:148495716G>T uc010lpg.2 + 20 2609 c.2083G>T c.(2083-2085)GAA>TAA p.E695* CUL1_uc003wey.2_Nonsense_Mutation_p.E695*|CUL1_uc003wez.2_Nonsense_Mutation_p.E585*|CUL1_uc003wfa.2_Nonsense_Mutation_p.E356* NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 695 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding lung(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) ACAGAAGCAGGAACAAGAAAC 0.418 NA 14 72 1.15e-07 1.21e-07 1 0 ZNF425 155054 broad.mit.edu 37 7 148801943 148801943 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:148801943G>A uc003wfj.2 - 4 1093 c.1020C>T c.(1018-1020)CGC>CGT p.R340R NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN zinc finger protein 425 340 C2H2-type 5. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CCCTCTTCAGGCGGAAGCACC 0.662 NA 9 38 0 0 0 0 GIMAP6 474344 broad.mit.edu 37 7 150327212 150327212 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:150327212C>G uc003whn.2 - 2 443 c.19G>C c.(19-21)GAA>CAA p.E7Q GIMAP6_uc003whm.2_Missense_Mutation_p.M1I NM_024711 NP_078987 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 7 GTP binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGAATTTGTTCATATTCTTCT 0.428 NA 3 89 0 0 0 0 RNF32 140545 broad.mit.edu 37 7 156437207 156437207 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:156437207G>C uc003wmo.2 + 3 212 c.30G>C c.(28-30)AAG>AAC p.K10N RNF32_uc010lql.1_RNA|RNF32_uc010lqm.2_Missense_Mutation_p.K10N|RNF32_uc003wmp.2_Missense_Mutation_p.K10N|RNF32_uc003wmq.2_Missense_Mutation_p.K10N|RNF32_uc003wmr.2_Missense_Mutation_p.K10N|RNF32_uc003wms.2_Missense_Mutation_p.K10N|RNF32_uc003wmu.2_RNA|RNF32_uc003wmt.2_Missense_Mutation_p.K10N NM_030936 NP_112198 Q9H0A6 RNF32_HUMAN ring finger protein 32 10 aggresome|endosome protein binding|zinc ion binding 0 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00291) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) ACTCATCTAAGAAAGATAACT 0.333 NA 5 53 0 0 0 0 CSMD1 64478 broad.mit.edu 37 8 2823375 2823375 + Missense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:2823375C>A uc011kwk.1 - 59 9595 c.9205G>T c.(9205-9207)GTC>TTC p.V3069F CSMD1_uc011kwj.1_Missense_Mutation_p.V2398F|CSMD1_uc010lrg.2_Intron NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3069 Extracellular (Potential).|Sushi 24. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GCTTCCATGACATAGCCTGGG 0.493 NA 9 6 2.18e-05 2.25e-05 1 0 SOX7 83595 broad.mit.edu 37 8 10583925 10583925 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:10583925C>G uc003wtf.2 - 2 569 c.490G>C c.(490-492)GAG>CAG p.E164Q SOX7_uc011kwz.1_Missense_Mutation_p.E216Q|uc003wtg.1_5'Flank NM_031439 NP_113627 Q9BT81 SOX7_HUMAN SRY-box 7 164 endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1) 1 COAD - Colon adenocarcinoma(149;0.0732) GGGGAGTACTCACCCCTGTCC 0.726 NA 8 15 0 0 0 0 CSGALNACT1 55790 broad.mit.edu 37 8 19297418 19297418 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:19297418C>T uc011kyn.1 - 6 1940 c.876G>A c.(874-876)GGG>GGA p.G292G CSGALNACT1_uc011kyo.1_Silent_p.G292G|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Silent_p.G291G|CSGALNACT1_uc003wzh.2_RNA NM_001130518 NP_001123990 Q8TDX6 CGAT1_HUMAN chondroitin sulfate 292 Lumenal (Potential). anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity central_nervous_system(2)|ovary(1) 3 Colorectal(111;0.182) GATGGACTCTCCCATCCTGCT 0.418 NA 17 36 0 0 0 0 FAM160B2 64760 broad.mit.edu 37 8 21960135 21960135 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:21960135G>A uc011kyx.1 + 16 2140 c.2089G>A c.(2089-2091)GAG>AAG p.E697K FAM160B2_uc011kyy.1_RNA NM_022749 NP_073586 Q86V87 F16B2_HUMAN retinoic acid induced 16 697 0 GGCTCCTGGGGAGCAGTGAGT 0.622 NA 5 4 0 0 0 0 ADAM7 8756 broad.mit.edu 37 8 24356805 24356805 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:24356805C>T uc003xeb.2 + 17 2012 c.1899C>T c.(1897-1899)TGC>TGT p.C633C ADAM7_uc003xec.2_Silent_p.C405C NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN a disintegrin and metalloproteinase domain 7 633 Extracellular (Potential).|Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding skin(3)|ovary(1)|kidney(1) 5 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) CAACCAATTGCCCCTCTCAGT 0.328 NA 3 46 0 0 0 0 EBF2 64641 broad.mit.edu 37 8 25708194 25708194 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:25708194G>C uc003xes.1 - 15 1629 c.1612C>G c.(1612-1614)CAG>GAG p.Q538E PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA NM_022659 NP_073150 Q9HAK2 COE2_HUMAN early B-cell factor 2 538 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding ovary(3)|skin(1) 4 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) GCACTCTTCTGTTTGACAGCA 0.522 NA 41 70 0 0 0 0 UBXN8 7993 broad.mit.edu 37 8 30608921 30608921 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:30608921G>A uc003xii.2 + 2 114 c.97G>A c.(97-99)GAT>AAT p.D33N UBXN8_uc010lvi.2_Intron|UBXN8_uc011lbb.1_RNA|UBXN8_uc003xij.2_RNA NM_005671 NP_005662 O00124 UBXN8_HUMAN reproduction 8 33 single fertilization 0 AGGAATCAAGGATTTTCTTTT 0.244 NA 3 18 0 0 0 0 C8orf41 80185 broad.mit.edu 37 8 33369604 33369604 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:33369604G>A uc003xjl.3 - 1 1053 c.528C>T c.(526-528)CTC>CTT p.L176L C8orf41_uc003xjk.3_Silent_p.L176L|C8orf41_uc010lvv.2_Silent_p.L176L|C8orf41_uc003xjm.3_Silent_p.L176L|C8orf41_uc003xjn.1_Silent_p.L176L NM_025115 NP_079391 Q6NXR4 CH041_HUMAN hypothetical protein LOC80185 176 binding 0 KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111) GCAGTGAGGTGAGCACCTCCC 0.493 NA 6 269 0 0 0 0 PRKDC 5591 broad.mit.edu 37 8 48719860 48719860 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:48719860C>G uc003xqi.2 - 70 9642 c.9585G>C c.(9583-9585)GAG>GAC p.E3195D PRKDC_uc003xqj.2_Missense_Mutation_p.E3195D|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 3195 KIP-binding.|FAT. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GGGTAAGCTTCTCCTCTATTT 0.423 NA NHEJ 46 127 0 0 0 0 PRKDC 5591 broad.mit.edu 37 8 48777319 48777319 + Nonsense_Mutation SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:48777319G>T uc003xqi.2 - 42 5426 c.5369C>A c.(5368-5370)TCA>TAA p.S1790* PRKDC_uc003xqj.2_Nonsense_Mutation_p.S1790*|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 1790 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TGTGACACATGAACCCCTAAG 0.443 NA NHEJ 3 14 6.4e-05 6.59e-05 1 0 MCM4 4173 broad.mit.edu 37 8 48883280 48883280 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:48883280G>A uc003xqk.1 + 12 1739 c.1644G>A c.(1642-1644)ATG>ATA p.M548I MCM4_uc003xql.1_Missense_Mutation_p.M548I|MCM4_uc011ldi.1_Missense_Mutation_p.M535I NM_182746 NP_877423 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 548 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(2)|skin(2) 4 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) CGTACGTAATGAAAGACCCTG 0.552 NA 14 41 0 0 0 0 PXDNL 137902 broad.mit.edu 37 8 52284541 52284541 + Nonsense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:52284541G>A uc003xqu.3 - 19 3894 c.3793C>T c.(3793-3795)CAG>TAG p.Q1265* PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1265 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TGCACTTGCTGAATGCTGTCA 0.532 NA 5 26 0 0 0 0 MYBL1 4603 broad.mit.edu 37 8 67504755 67504755 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:67504755C>T uc003xwj.2 - 8 1194 c.787G>A c.(787-789)GAT>AAT p.D263N MYBL1_uc003xwl.2_Missense_Mutation_p.D263N|MYBL1_uc003xwk.2_Missense_Mutation_p.D263N NM_001080416 NP_001073885 P10243 MYBA_HUMAN v-myb myeloblastosis viral oncogene homolog 263 Transcriptional activation domain (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1) 3 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) TTTTCCTTATCAGGATCTTCA 0.284 NA 6 89 0 0 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68150972 68150972 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:68150972C>T uc003xxo.1 - 21 3526 c.3136G>A c.(3136-3138)GAG>AAG p.E1046K ARFGEF1_uc003xxl.1_Missense_Mutation_p.E500K|ARFGEF1_uc003xxn.1_Missense_Mutation_p.E29K NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 1046 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GCTTATACCTCATGCCATGAA 0.323 NA 24 76 0 0 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68165736 68165736 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:68165736G>A uc003xxo.1 - 18 3038 c.2648C>T c.(2647-2649)TCA>TTA p.S883L ARFGEF1_uc003xxl.1_Missense_Mutation_p.S337L NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 883 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) TTCTTTCATTGATATCTTTTT 0.308 NA 6 62 0 0 0 0 TERF1 7013 broad.mit.edu 37 8 73942628 73942628 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:73942628G>A uc003xzd.2 + 7 970 c.945G>A c.(943-945)TTG>TTA p.L315L TERF1_uc003xze.2_Intron NM_017489 NP_059523 P54274 TERF1_HUMAN telomeric repeat binding factor 1 isoform 1 315 Interaction with RLIM. age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomerase|telomere maintenance via telomere shortening chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding ovary(1)|lung(1)|skin(1) 3 Breast(64;0.218) Epithelial(68;0.0984) TATCCTTATTGAGGTGAAGTA 0.318 NA 6 28 0 0 0 0 TCEB1 6921 broad.mit.edu 37 8 74859029 74859029 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:74859029C>T uc003xzx.1 - 4 260 c.175G>A c.(175-177)GAG>AAG p.E59K TCEB1_uc003xzy.1_Missense_Mutation_p.E59K|TCEB1_uc003xzz.1_Missense_Mutation_p.E43K|TCEB1_uc003yaa.1_Missense_Mutation_p.E59K NM_005648 NP_005639 Q15369 ELOC_HUMAN elongin C 59 interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction cytosol|nucleoplasm protein binding 0 Breast(64;0.0311) Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499) AAATTGACCTCATTGGTTTCG 0.289 NA 18 55 0 0 0 0 JPH1 56704 broad.mit.edu 37 8 75227373 75227373 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:75227373C>T uc003yae.2 - 2 902 c.862G>A c.(862-864)GAC>AAC p.D288N JPH1_uc003yaf.2_Missense_Mutation_p.D288N|JPH1_uc003yag.1_Missense_Mutation_p.D152N NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN junctophilin 1 288 Cytoplasmic (Potential).|MORN 6. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane ovary(1) 1 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) TTGCGCTTGTCGTTCTTCCAC 0.542 NA 50 122 0 0 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617904 77617904 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:77617904G>A uc003yav.2 + 2 1968 c.1581G>A c.(1579-1581)GCG>GCA p.A527A ZFHX4_uc003yat.1_Silent_p.A527A|ZFHX4_uc003yau.1_Silent_p.A527A|ZFHX4_uc003yaw.1_Silent_p.A527A NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 527 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCTCCTCGGCGACTGTTTCTG 0.433 NA HNSCC(33;0.089) 14 57 0 0 0 0 TPD52 7163 broad.mit.edu 37 8 80976724 80976724 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:80976724C>G uc003ybr.1 - 2 566 c.244G>C c.(244-246)GAA>CAA p.E82Q TPD52_uc010lzr.2_RNA|TPD52_uc010lzs.1_RNA|TPD52_uc003ybs.1_Missense_Mutation_p.E42Q|TPD52_uc003ybt.1_Missense_Mutation_p.E42Q|TPD52_uc003ybq.1_RNA|TPD52_uc003ybu.1_RNA NM_001025252 NP_001020423 P55327 TPD52_HUMAN tumor protein D52 isoform 1 82 Potential. anatomical structure morphogenesis|B cell differentiation|secretion endoplasmic reticulum|perinuclear region of cytoplasm calcium ion binding|protein heterodimerization activity|protein homodimerization activity ovary(1) 1 all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06) Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158) BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612) TTTGCAAGTTCTCTTCTTAGC 0.428 NA 43 105 0 0 0 0 RBM12B 389677 broad.mit.edu 37 8 94746326 94746326 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:94746326G>A uc003yfz.2 - 3 2506 c.2313C>T c.(2311-2313)TTC>TTT p.F771F NM_203390 NP_976324 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 771 nucleotide binding|RNA binding 0 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) GCGGGCGCCTGAAATGCTCTG 0.662 NA 25 88 0 0 0 0 ESRP1 54845 broad.mit.edu 37 8 95690463 95690463 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:95690463C>T uc003ygq.3 + 13 1867 c.1684C>T c.(1684-1686)CCT>TCT p.P562S ESRP1_uc003ygr.3_Missense_Mutation_p.P558S|ESRP1_uc003ygs.3_Missense_Mutation_p.P558S|ESRP1_uc003ygt.3_Missense_Mutation_p.P562S|ESRP1_uc003ygu.3_Missense_Mutation_p.P558S|ESRP1_uc003ygv.2_Missense_Mutation_p.P402S|ESRP1_uc003ygw.2_Missense_Mutation_p.P402S NM_017697 NP_060167 Q6NXG1 ESRP1_HUMAN RNA binding motif protein 35A isoform 1 562 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) prostate(4) 4 ATTTCCAGCTCCTGCTGCAGT 0.493 NA 24 81 0 0 0 0 NIPAL2 79815 broad.mit.edu 37 8 99215352 99215352 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:99215352G>C uc003yil.1 - 8 1120 c.864C>G c.(862-864)ATC>ATG p.I288M NIPAL2_uc011lgw.1_Missense_Mutation_p.I84M|NIPAL2_uc003yim.1_Missense_Mutation_p.I288M NM_024759 NP_079035 Q9H841 NPAL2_HUMAN NIPA-like domain containing 2 288 Helical; (Potential). integral to membrane 0 TGATGGCACTGATTGTAAAGA 0.398 NA 23 38 0 0 0 0 VPS13B 157680 broad.mit.edu 37 8 100654378 100654378 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:100654378G>A uc003yiv.2 + 34 5746 c.5635G>A c.(5635-5637)GAA>AAA p.E1879K VPS13B_uc003yiw.2_Missense_Mutation_p.E1854K NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 1879 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AAATCTCCCAGAAGTTGATTC 0.388 NA 20 189 0 0 0 0 VPS13B 157680 broad.mit.edu 37 8 100844830 100844830 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:100844830G>C uc003yiv.2 + 52 9750 c.9639G>C c.(9637-9639)CAG>CAC p.Q3213H VPS13B_uc003yiw.2_Missense_Mutation_p.Q3188H NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3213 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TTCCCAGACAGAGTGTGGCAG 0.473 NA 23 104 0 0 0 0 YWHAZ 7534 broad.mit.edu 37 8 101936232 101936232 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:101936232G>A uc011lhe.1 - 5 806 c.629C>T c.(628-630)TCA>TTA p.S210L YWHAZ_uc003yjv.2_Missense_Mutation_p.S210L|YWHAZ_uc011lhf.1_Missense_Mutation_p.S210L|YWHAZ_uc003yjw.2_Missense_Mutation_p.S210L|YWHAZ_uc010mbq.2_Missense_Mutation_p.S133L|YWHAZ_uc011lhg.1_Missense_Mutation_p.S90L|YWHAZ_uc010mbr.2_Missense_Mutation_p.S210L|YWHAZ_uc003yjx.2_Missense_Mutation_p.S210L|YWHAZ_uc003yjy.2_Missense_Mutation_p.S210L NM_001135702 NP_001129174 P63104 1433Z_HUMAN tyrosine 3/tryptophan 5 -monooxygenase 210 anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction cytosol|melanosome transcription factor binding 0 all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197) Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05) Ginkgo biloba(DB01381) GTCTTTGTATGACTCTTCACT 0.343 NA 42 159 0 0 0 0 NCALD 83988 broad.mit.edu 37 8 102701558 102701558 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:102701558C>T uc003yke.2 - 4 930 c.561G>A c.(559-561)CCG>CCA p.P187P NCALD_uc003ykf.2_Silent_p.P187P|NCALD_uc003ykg.2_Silent_p.P187P|NCALD_uc003ykh.2_Silent_p.P187P|NCALD_uc003yki.2_Silent_p.P187P|NCALD_uc003ykj.2_Silent_p.P187P|NCALD_uc003ykk.2_Silent_p.P187P|NCALD_uc003ykl.2_Silent_p.P187P NM_032041 NP_114430 P61601 NCALD_HUMAN neurocalcin delta 187 synaptic transmission|vesicle-mediated transport clathrin coat of trans-Golgi network vesicle|cytosol actin binding|calcium ion binding|clathrin binding|tubulin binding 0 all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05) all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699) CGGCACTGCTCGGGTCGCACT 0.502 NA 5 27 0 0 0 0 TNFRSF11B 4982 broad.mit.edu 37 8 119940992 119940992 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:119940992G>C uc003yon.3 - 3 900 c.577C>G c.(577-579)CAA>GAA p.Q193E TNFRSF11B_uc010mdc.1_RNA NM_002546 NP_002537 O00300 TR11B_HUMAN osteoprotegerin precursor 193 apoptosis|skeletal system development cytokine activity|receptor activity central_nervous_system(2) 2 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) CCACATTTTTGAGTTGATTCA 0.393 NA 4 200 0 0 0 0 SNTB1 6641 broad.mit.edu 37 8 121823639 121823639 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:121823639C>T uc010mdg.2 - 1 671 c.445G>A c.(445-447)GAC>AAC p.D149N SNTB1_uc003ype.2_Missense_Mutation_p.D149N NM_021021 NP_066301 Q13884 SNTB1_HUMAN basic beta 1 syntrophin 149 PH 1.|PDZ. muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding skin(5) 5 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) TGGGTCTGGTCCGCCGCCAGC 0.657 NA 22 88 0 0 0 0 WDR67 93594 broad.mit.edu 37 8 124140671 124140671 + Missense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:124140671C>A uc003ypp.1 + 14 2125 c.2035C>A c.(2035-2037)CAA>AAA p.Q679K WDR67_uc011lig.1_Missense_Mutation_p.Q679K|WDR67_uc011lih.1_Missense_Mutation_p.Q569K|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Intron|WDR67_uc003ypt.1_Missense_Mutation_p.Q136K|WDR67_uc003ypu.1_Missense_Mutation_p.Q136K NM_145647 NP_663622 Q96DN5 WDR67_HUMAN WD repeat domain 67 isoform 1 679 centrosome Rab GTPase activator activity skin(1) 1 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) AGTATTTAATCAATATCCAAA 0.358 NA 36 63 1.84e-18 1.97e-18 1 0 KLHL38 340359 broad.mit.edu 37 8 124664436 124664436 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:124664436G>A uc003yqs.1 - 1 755 c.731C>T c.(730-732)TCC>TTC p.S244F NM_001081675 NP_001075144 Q2WGJ6 KLH38_HUMAN kelch-like 38 244 0 TGCAGGCGAGGACTGCAGGAG 0.552 NA 19 80 0 0 0 0 FER1L6 654463 broad.mit.edu 37 8 125072457 125072457 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:125072457G>C uc003yqw.2 + 23 3117 c.2911G>C c.(2911-2913)GAG>CAG p.E971Q uc003yqy.1_RNA NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 971 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CCCACCCGTTGAGCCACCAGA 0.582 NA 41 119 0 0 0 0 TMEM71 137835 broad.mit.edu 37 8 133740154 133740154 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:133740154G>A uc003ytp.2 - 6 792 c.563C>T c.(562-564)TCT>TTT p.S188F TMEM71_uc003ytm.1_Missense_Mutation_p.S10F|TMEM71_uc003ytn.2_Missense_Mutation_p.S170F|TMEM71_uc003yto.2_Intron NM_144649 NP_653250 Q6P5X7 TMM71_HUMAN transmembrane protein 71 isoform 1 189 integral to membrane ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GTGGCTGGAAGAGGAGGTGAT 0.473 NA 16 144 0 0 0 0 CYP11B2 1585 broad.mit.edu 37 8 143993975 143993975 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:143993975C>G uc003yxk.1 - 8 1372 c.1369G>C c.(1369-1371)GAG>CAG p.E457Q NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 457 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) ATCTCTGCCTCTGCCAGGCGC 0.692 NA Familial_Hyperaldosteronism_type_I 15 69 0 0 0 0 ZNF623 9831 broad.mit.edu 37 8 144732148 144732148 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:144732148G>A uc003yzd.2 + 1 195 c.106G>A c.(106-108)GAC>AAC p.D36N ZNF623_uc011lkp.1_5'UTR|ZNF623_uc003yzc.2_5'UTR NM_014789 NP_055604 O75123 ZN623_HUMAN zinc finger protein 623 isoform 1 36 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GACGACGTCAGACAGACTCAC 0.502 NA 41 74 0 0 0 0 EPPK1 83481 broad.mit.edu 37 8 144941431 144941431 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:144941431G>A uc003zaa.1 - 1 6004 c.5991C>T c.(5989-5991)CTC>CTT p.L1997L NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 1997 Plectin 33. 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) CCTTCTCGATGAGCTGCTTCT 0.647 NA 11 30 0 0 0 0 ZNF16 7564 broad.mit.edu 37 8 146157135 146157135 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:146157135C>T uc003zet.2 - 4 1225 c.1038G>A c.(1036-1038)GAG>GAA p.E346E ZNF16_uc003zeu.2_Silent_p.E346E NM_001029976 NP_001025147 P17020 ZNF16_HUMAN zinc finger protein 16 346 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) CATACGGTTTCTCCCCAGAAT 0.488 NA 15 81 0 0 0 0 C9orf68 55064 broad.mit.edu 37 9 4605410 4605410 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:4605410C>T uc011llz.1 - 9 1090 c.852G>A c.(850-852)AAG>AAA p.K284K C9orf68_uc003zik.2_RNA|C9orf68_uc003zil.2_RNA|C9orf68_uc010mhj.2_Silent_p.K342K|C9orf68_uc011lly.1_Silent_p.K219K NM_001039395 NP_001034484 B4DIY4 B4DIY4_HUMAN hypothetical protein LOC55064 284 0 Breast(48;0.0456) GBM - Glioblastoma multiforme(50;0.0222) CATGGATATTCTTCCATGTGG 0.343 NA 20 79 0 0 0 0 CNTLN 54875 broad.mit.edu 37 9 17143343 17143343 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:17143343C>G uc003zmz.2 + 2 444 c.418C>G c.(418-420)CTC>GTC p.L140V CNTLN_uc003zmx.3_Missense_Mutation_p.L140V|CNTLN_uc003zmy.2_Missense_Mutation_p.L140V|CNTLN_uc003zmw.1_Missense_Mutation_p.L140V NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN centlein isoform 1 140 centriole|membrane two-component sensor activity pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.14e-10) AAACCCAGATCTCACACAAGT 0.348 NA 5 178 0 0 0 0 KIF24 347240 broad.mit.edu 37 9 34290296 34290296 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:34290296G>A uc003zua.3 - 5 1123 c.1003C>T c.(1003-1005)CTA>TTA p.L335L KIF24_uc010mkb.2_Silent_p.L366L NM_194313 NP_919289 Q5T7B8 KIF24_HUMAN kinesin family member 24 335 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0107) TTGGCAGCTAGAGCATACAAT 0.458 NA 60 51 0 0 0 0 KIF27 55582 broad.mit.edu 37 9 86518637 86518637 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:86518637G>C uc004ana.2 - 4 940 c.796C>G c.(796-798)CAA>GAA p.Q266E KIF27_uc010mpw.2_Missense_Mutation_p.Q266E|KIF27_uc010mpx.2_Missense_Mutation_p.Q266E NM_017576 NP_060046 Q86VH2 KIF27_HUMAN kinesin family member 27 266 Kinesin-motor. cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity lung(4)|skin(1) 5 CTATTGATTTGAATGGATTCT 0.428 NA 30 81 0 0 0 0 NTRK2 4915 broad.mit.edu 37 9 87482318 87482318 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:87482318C>T uc004aoa.1 + 15 2495 c.1557C>T c.(1555-1557)ATC>ATT p.I519I NTRK2_uc004any.1_Silent_p.I519I|NTRK2_uc004anz.1_Silent_p.I535I|NTRK2_uc011lsz.1_Silent_p.I535I|NTRK2_uc011lta.1_Silent_p.I519I|NTRK2_uc004aoc.2_Silent_p.I70I NM_001018064 NP_001018074 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 519 Cytoplasmic (Potential). activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1) 16 ACTTTGGCATCACCAACAGTC 0.453 NA TSP Lung(25;0.17) 35 93 0 0 0 0 NOL8 55035 broad.mit.edu 37 9 95077643 95077643 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:95077643C>T uc004arv.2 - 7 1601 c.1264G>A c.(1264-1266)GAT>AAT p.D422N NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.D354N NM_017948 NP_060418 Q76FK4 NOL8_HUMAN nucleolar protein 8 422 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding ovary(1) 1 ATACAGTGATCAGAAAGCTCA 0.333 NA 7 30 0 0 0 0 NOL8 55035 broad.mit.edu 37 9 95077919 95077919 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:95077919C>T uc004arv.2 - 7 1325 c.988G>A c.(988-990)GAA>AAA p.E330K NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.E262K NM_017948 NP_060418 Q76FK4 NOL8_HUMAN nucleolar protein 8 330 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding ovary(1) 1 GGATCACTTTCAGATTCATTT 0.353 NA 21 35 0 0 0 0 ZNF484 83744 broad.mit.edu 37 9 95610741 95610741 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:95610741C>T uc004asu.1 - 5 477 c.328G>A c.(328-330)GAC>AAC p.D110N ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.D112N|ZNF484_uc010mrb.1_Missense_Mutation_p.D74N|ZNF484_uc004asv.1_Missense_Mutation_p.D74N NM_031486 NP_113674 Q5JVG2 ZN484_HUMAN zinc finger protein 484 isoform a 110 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAATATGGGTCATCTCTTGTG 0.353 NA 39 110 0 0 0 0 GABBR2 9568 broad.mit.edu 37 9 101304180 101304180 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:101304180G>A uc004ays.2 - 3 761 c.605C>T c.(604-606)ACG>ATG p.T202M NM_005458 NP_005449 O75899 GABR2_HUMAN G protein-coupled receptor 51 precursor 202 Extracellular (Potential). negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(2)|skin(2) 4 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) AACGTCTTGCGTCAGCGTGCC 0.532 NA 9 48 0 0 0 0 GALNT12 79695 broad.mit.edu 37 9 101608279 101608279 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:101608279G>C uc004ayz.2 + 9 1479 c.1479G>C c.(1477-1479)CAG>CAC p.Q493H NM_024642 NP_078918 Q8IXK2 GLT12_HUMAN N-acetylgalactosaminyltransferase 12 493 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(1)|ovary(1) 2 Acute lymphoblastic leukemia(62;0.0559) ACACGTCCCAGAAAGAAATAC 0.483 NA 11 41 0 0 0 0 COL15A1 1306 broad.mit.edu 37 9 101763192 101763192 + Missense_Mutation SNP G G C rs137949756 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:101763192G>C uc004azb.1 + 7 1230 c.1024G>C c.(1024-1026)GGC>CGC p.G342R NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 342 Nonhelical region 1 (NC1). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding p.G342S(1) ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) TACTGACAGCGGCTCAGGGGC 0.468 NA OREG0019364 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 54 0 0 0 0 OR13C3 138803 broad.mit.edu 37 9 107298345 107298345 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:107298345G>A uc004bcb.1 - 1 750 c.750C>T c.(748-750)TTC>TTT p.F250F NM_001001961 NP_001001961 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, 250 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 TGTAGAGGATGAACATATAGG 0.428 NA 37 81 0 0 0 0 OR13D1 286365 broad.mit.edu 37 9 107456838 107456838 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:107456838C>G uc011lvs.1 + 1 136 c.136C>G c.(136-138)CTG>GTG p.L46V NM_001004484 NP_001004484 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, 46 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TGAATTCTTTCTGGTGGGGCT 0.438 NA 27 69 0 0 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112899402 112899402 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:112899402C>G uc004bei.2 + 9 2466 c.2274C>G c.(2272-2274)CTC>CTG p.L758L PALM2-AKAP2_uc004bek.3_Silent_p.L526L|PALM2-AKAP2_uc004bej.3_Silent_p.L526L|PALM2-AKAP2_uc004bel.1_Silent_p.L336L|AKAP2_uc011lwi.1_Silent_p.L384L|AKAP2_uc004bem.2_Silent_p.L384L|PALM2-AKAP2_uc010mtw.1_Silent_p.L344L|AKAP2_uc011lwj.1_Silent_p.L295L|PALM2-AKAP2_uc004ben.2_Silent_p.L295L NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 295 enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 CATCGCAGCTCTGCACAGCCC 0.378 NA 10 22 0 0 0 0 SUSD1 64420 broad.mit.edu 37 9 114875121 114875121 + Nonsense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:114875121G>C uc004bfu.2 - 7 955 c.914C>G c.(913-915)TCA>TGA p.S305* SUSD1_uc010mui.2_Nonsense_Mutation_p.S305*|SUSD1_uc010muj.2_Nonsense_Mutation_p.S305* NM_022486 NP_071931 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 precursor 305 Extracellular (Potential). integral to membrane calcium ion binding 0 ATTAAACAGTGATACATCATT 0.343 NA 23 52 0 0 0 0 FKBP15 23307 broad.mit.edu 37 9 115952852 115952852 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:115952852C>T uc004bgs.2 - 12 1190 c.1072G>A c.(1072-1074)GAT>AAT p.D358N FKBP15_uc010muu.1_Missense_Mutation_p.D422N|FKBP15_uc011lxc.1_5'Flank|FKBP15_uc011lxd.1_Missense_Mutation_p.D290N|FKBP15_uc010mut.1_Missense_Mutation_p.D226N|FKBP15_uc004bgt.2_Missense_Mutation_p.D358N NM_015258 NP_056073 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 358 endocytosis|protein folding axon|early endosome actin binding ovary(3) 3 TTGACTGCATCGGGACTCTAA 0.458 NA 5 6 0 0 0 0 TNC 3371 broad.mit.edu 37 9 117848518 117848518 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:117848518C>T uc004bjj.3 - 3 1854 c.1492G>A c.(1492-1494)GAT>AAT p.D498N TNC_uc010mvf.2_Missense_Mutation_p.D498N NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 498 EGF-like 12. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 CATTGGCGATCCCGGCAGTCT 0.602 NA 43 140 0 0 0 0 CEP110 11064 broad.mit.edu 37 9 123924347 123924347 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:123924347G>C uc004bkx.1 + 32 5252 c.5221G>C c.(5221-5223)GAG>CAG p.E1741Q CEP110_uc004blb.1_Missense_Mutation_p.E410Q|CEP110_uc010mvp.1_Intron NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN centrosomal protein 110kDa 1741 Potential. cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding 0 ACTGGAGTTAGAGAATTTGCA 0.413 NA 20 70 0 0 0 0 TTLL11 158135 broad.mit.edu 37 9 124794104 124794104 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:124794104C>T uc004blt.1 - 3 1049 c.861G>A c.(859-861)CTG>CTA p.L287L TTLL11_uc011lyl.1_Silent_p.L287L|TTLL11_uc004blr.2_Intron|TTLL11_uc011lym.1_Intron|TTLL11_uc004blu.1_Intron NM_194252 NP_919228 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 287 TTL. protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity 0 CTGCTCTGCTCAGAGTAATTT 0.478 NA 32 99 0 0 0 0 RABEPK 10244 broad.mit.edu 37 9 127990317 127990317 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:127990317G>A uc004bpi.2 + 7 828 c.655G>A c.(655-657)GAC>AAC p.D219N RABEPK_uc004bpj.2_Missense_Mutation_p.D168N|RABEPK_uc004bpk.2_Missense_Mutation_p.D219N|RABEPK_uc004bpl.1_Missense_Mutation_p.D168N|RABEPK_uc004bpm.2_Missense_Mutation_p.D219N NM_005833 NP_005824 Q7Z6M1 RABEK_HUMAN Rab9 effector protein with kelch motifs 219 Kelch 4. receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane ovary(1) 1 ATTCTATGATGACCTCCACTG 0.403 NA 13 26 0 0 0 0 LRSAM1 90678 broad.mit.edu 37 9 130263396 130263396 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:130263396G>C uc004brb.1 + 25 2365 c.2020G>C c.(2020-2022)GAG>CAG p.E674Q LRSAM1_uc010mxk.1_Missense_Mutation_p.E647Q|LRSAM1_uc004brc.1_Missense_Mutation_p.E674Q|LRSAM1_uc004brd.1_Missense_Mutation_p.E674Q|LRSAM1_uc004bre.1_Missense_Mutation_p.E254Q|LRSAM1_uc004brg.1_Missense_Mutation_p.E105Q NM_001005373 NP_001005373 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif 674 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding 0 GCAGGCCTCAGAGTGTGTCGT 0.662 NA 13 35 0 0 0 0 LRRC8A 56262 broad.mit.edu 37 9 131671590 131671590 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:131671590C>T uc004bwl.3 + 3 2401 c.2147C>T c.(2146-2148)ACG>ATG p.T716M LRRC8A_uc010myp.2_Missense_Mutation_p.T716M|LRRC8A_uc010myq.2_Missense_Mutation_p.T716M NM_019594 NP_062540 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member 716 LRR 15. pre-B cell differentiation integral to membrane 0 CTAGCCATCACGGCCAACCGG 0.667 NA 29 71 0 0 0 0 RALGDS 5900 broad.mit.edu 37 9 135975666 135975666 + Nonsense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:135975666G>C uc004cco.2 - 17 2578 c.2558C>G c.(2557-2559)TCA>TGA p.S853* RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccn.2_Nonsense_Mutation_p.S41*|RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Nonsense_Mutation_p.S841*|RALGDS_uc004ccr.2_Nonsense_Mutation_p.S852*|RALGDS_uc011mcv.1_Nonsense_Mutation_p.S824*|RALGDS_uc004ccs.2_Nonsense_Mutation_p.S798*|RALGDS_uc011mcw.1_Nonsense_Mutation_p.S924*|RALGDS_uc004ccv.1_3'UTR|RALGDS_uc004ccu.1_3'UTR NM_006266 NP_006257 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 853 Ras-associating. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity large_intestine(1)|lung(1)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) CCGGTCATCTGAGAGAATCTG 0.582 NA T CIITA PMBL|Hodgkin Lymphona| 79 253 0 0 0 0 C9orf116 138162 broad.mit.edu 37 9 138391608 138391608 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:138391608C>G uc004cft.1 - 1 154 c.90G>C c.(88-90)GTG>GTC p.V30V C9orf116_uc004cfs.1_Silent_p.V30V|C9orf116_uc004cfu.1_RNA|MRPS2_uc004cfv.3_5'Flank|MRPS2_uc004cfw.3_5'Flank|MRPS2_uc004cfx.3_5'Flank|MRPS2_uc010nat.2_5'Flank NM_001048265 NP_001041730 Q5BN46 CI116_HUMAN hypothetical protein LOC138162 isoform 1 30 0 OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05) GGTCCGCGCTCACGCGGTAGT 0.697 NA 3 19 0 0 0 0 C8G 733 broad.mit.edu 37 9 139840549 139840549 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:139840549G>A uc004cka.2 + 4 434 c.359G>A c.(358-360)CGA>CAA p.R120Q FBXW5_uc004cjx.2_5'Flank|FBXW5_uc004cjy.2_5'Flank|FBXW5_uc004cjz.2_5'Flank NM_000606 NP_000597 P07360 CO8G_HUMAN complement component 8, gamma polypeptide 120 complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex retinol binding|transporter activity 0 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107) CGAGACGCCCGAGGGGCTGTG 0.642 NA 16 23 0 0 0 0 ASMTL 8623 broad.mit.edu 37 X 1546743 1546743 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chrX:1546743C>T uc004cpx.1 - 7 892 c.781G>A c.(781-783)GAG>AAG p.E261K ASMTL_uc011mhe.1_Missense_Mutation_p.E185K|ASMTL_uc004cpy.1_Missense_Mutation_p.E245K|ASMTL_uc011mhf.1_Missense_Mutation_p.E203K NM_004192 NP_004183 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 261 melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TCTCCCGCCTCGGCCTTCTCA 0.697 NA 7 57 0 0 0 0 TBL1X 6907 broad.mit.edu 37 X 9679750 9679750 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chrX:9679750C>T uc010ndq.2 + 16 1907 c.1539C>T c.(1537-1539)TTC>TTT p.F513F TBL1X_uc004csq.3_Silent_p.F462F|TBL1X_uc010ndr.2_Silent_p.F462F|TBL1X_uc004csr.2_Silent_p.F513F|TBL1X_uc004css.2_Silent_p.F464F NM_001139466 NP_001132938 O60907 TBL1X_HUMAN transducin beta-like 1X isoform a 513 WD 7. canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Hepatocellular(5;0.000888) GCGTAGCTTTCAGCCCTGATG 0.527 NA 15 21 0 0 0 0 CDKL5 6792 broad.mit.edu 37 X 18646649 18646649 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chrX:18646649G>A uc004cym.2 + 18 2908 c.2655G>A c.(2653-2655)GGG>GGA p.G885G CDKL5_uc004cyn.2_Silent_p.G885G NM_003159 NP_003150 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 885 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1) 6 Hepatocellular(33;0.183) CCTCTGGCGGGAGCAGCAACA 0.592 NA 43 47 0 0 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19764535 19764535 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chrX:19764535C>T uc004czm.2 - 3 503 c.187G>A c.(187-189)GAC>AAC p.D63N SH3KBP1_uc004czl.2_Missense_Mutation_p.D26N NM_031892 NP_114098 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 isoform a 63 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding 0 GTGAGAGGGTCTTTCTTCATC 0.403 NA 54 51 0 0 0 0 OTUD5 55593 broad.mit.edu 37 X 48783269 48783269 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chrX:48783269C>G uc004dlu.2 - 6 1193 c.1132G>C c.(1132-1134)GAA>CAA p.E378Q OTUD5_uc004dlt.3_Missense_Mutation_p.E373Q|OTUD5_uc004dlv.2_Missense_Mutation_p.E373Q|OTUD5_uc011mmp.1_Missense_Mutation_p.E156Q NM_017602 NP_060072 Q96G74 OTUD5_HUMAN OTU domain containing 5 isoform a 378 negative regulation of type I interferon production cysteine-type peptidase activity pancreas(1) 1 ATCTGCTGTTCAATCCATGAC 0.507 NA 8 45 0 0 0 0 CCNB3 85417 broad.mit.edu 37 X 50094305 50094305 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chrX:50094305G>A uc004dox.3 + 12 4324 c.4026G>A c.(4024-4026)CTG>CTA p.L1342L CCNB3_uc004doy.2_Silent_p.L1342L|CCNB3_uc004doz.2_Silent_p.L238L|CCNB3_uc010njq.2_Silent_p.L234L|CCNB3_uc004dpa.2_Silent_p.L181L NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 1342 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) TCAGACAGCTGAACAAACTGC 0.458 NA 71 49 0 0 0 0 EFNB1 1947 broad.mit.edu 37 X 68058466 68058466 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chrX:68058466G>A uc004dxd.3 + 2 915 c.135G>A c.(133-135)CTG>CTA p.L45L EFNB1_uc004dxe.2_Silent_p.L45L NM_004429 NP_004420 P98172 EFNB1_HUMAN ephrin-B1 precursor 45 Extracellular (Potential). cell adhesion|cell-cell signaling integral to plasma membrane|soluble fraction|synapse ephrin receptor binding 0 GCAGGTTCCTGAGTGGGAAGG 0.592 NA 17 11 0 0 0 0 DGAT2L6 347516 broad.mit.edu 37 X 69424864 69424864 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chrX:69424864C>G uc004dxx.1 + 7 1019 c.922C>G c.(922-924)CAC>GAC p.H308D NM_198512 NP_940914 Q6ZPD8 DG2L6_HUMAN diacylglycerol O-acyltransferase 2-like 6 308 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity ovary(1) 1 AGACAAGTATCACGCACTCTA 0.468 NA 18 18 0 0 0 0 NAP1L3 4675 broad.mit.edu 37 X 92927287 92927287 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chrX:92927287G>C uc004efq.2 - 1 1322 c.1017C>G c.(1015-1017)TTC>TTG p.F339L FAM133A_uc004efr.1_5'Flank NM_004538 NP_004529 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 339 nucleosome assembly chromatin assembly complex ovary(1)|skin(1) 2 CATCCGACAAGAACTTCAGAA 0.423 NA 14 27 0 0 0 0 GUCY2F 2986 broad.mit.edu 37 X 108625366 108625366 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chrX:108625366C>G uc004eod.3 - 17 3407 c.3131G>C c.(3130-3132)CGA>CCA p.R1044P GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 1044 Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 TGTTCTTCCTCGAAGCTCCAC 0.423 NA 3 166 0 0 0 0 WDR44 54521 broad.mit.edu 37 X 117530989 117530989 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chrX:117530989G>C uc004eqn.2 + 7 1535 c.1110G>C c.(1108-1110)TTG>TTC p.L370F WDR44_uc004eqo.2_Missense_Mutation_p.L370F|WDR44_uc011mtr.1_Missense_Mutation_p.L345F|WDR44_uc010nqi.2_Missense_Mutation_p.L80F NM_019045 NP_061918 Q5JSH3 WDR44_HUMAN WD repeat domain 44 protein 370 cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 AAATACCTTTGAGTCTTGCAG 0.363 NA 33 42 0 0 0 0 ODZ1 10178 broad.mit.edu 37 X 123514646 123514646 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chrX:123514646C>G uc004euj.2 - 31 7982 c.7918G>C c.(7918-7920)GAA>CAA p.E2640Q ODZ1_uc011muj.1_Missense_Mutation_p.E2646Q|ODZ1_uc010nqy.2_Missense_Mutation_p.E2647Q NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2640 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TTTTCCTCTTCGACAGTTGTC 0.532 NA 3 83 0 0 0 0 EMD 2010 broad.mit.edu 37 X 153608306 153608306 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chrX:153608306G>C uc004fkl.2 + 3 440 c.192G>C c.(190-192)TTG>TTC p.L64F NM_000117 NP_000108 P50402 EMD_HUMAN emerin 64 Interaction with F-actin (Probable). cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane actin binding|beta-tubulin binding 0 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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) ATCCAGACTTGAATTCGACTA 0.567 NA 69 100 0 0 0 0 KIAA1199 57214 broad.mit.edu 37 15 81171075 81171075 + Frame_Shift_Del DEL C C - TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:81171075delC uc002bfw.1 + 3 368 c.108delC c.(106-108)TGCfs p.C36fs KIAA1199_uc010unn.1_Frame_Shift_Del_p.C36fs NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN KIAA1199 precursor 36 upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 CTGCTGGGTGCCCTGACCAGA 0.582 NA 11 77 --- --- --- --- NA NA NA NA COL25A1 84570 broad.mit.edu 37 4 109780855 109780856 + Frame_Shift_Ins INS - - TGGC TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:109780855_109780856insTGGC uc003hze.1 - 23 1807_1808 c.1276_1277insGCCA c.(1276-1278)ACTfs p.T426fs COL25A1_uc003hzg.2_Frame_Shift_Ins_p.T426fs|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Frame_Shift_Ins_p.T192fs NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 426 Extracellular (Potential). collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) TATGATCTCAGTGGCTCCTTGA 0.51 NA 11 70 --- --- --- --- NA NA NA NA SFTPC 6440 broad.mit.edu 37 8 22021060 22021061 + Splice_Site DEL GT GT - TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:22021060_22021061delGT uc003xax.3 + 4 593 c.435_splice c.e4+1 p.Q145_splice SFTPC_uc003xaw.3_Splice_Site_p.Q194_splice|SFTPC_uc011kza.1_Intron|SFTPC_uc003xaz.2_Splice_Site_p.Q145_splice|SFTPC_uc003xay.3_Splice_Site_p.Q145_splice|BMP1_uc011kzb.1_5'Flank|BMP1_uc003xba.2_5'Flank|BMP1_uc003xbb.2_5'Flank|BMP1_uc003xbe.2_5'Flank|BMP1_uc003xbc.2_5'Flank|BMP1_uc003xbd.2_5'Flank|BMP1_uc003xbf.2_5'Flank|BMP1_uc003xbg.2_5'Flank|BMP1_uc011kzc.1_5'Flank|BMP1_uc003xbh.2_5'Flank|BMP1_uc003xbi.2_5'Flank NM_003018 NP_003009 P11686 PSPC_HUMAN surfactant protein C precursor respiratory gaseous exchange extracellular space 0 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CAACTTCCAGGTGTGTGTGTGT 0.545 NA 7 55 --- --- --- --- NA NA NA NA COL14A1 7373 broad.mit.edu 37 8 121180418 121180418 + Frame_Shift_Del DEL G G - TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:121180418delG uc003yox.2 + 5 633 c.368delG c.(367-369)AGAfs p.R123fs NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 123 cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TTAGAAAAAAGAAAGGATCCA 0.353 NA 69 124 --- --- --- --- NA NA NA NA