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 MEGF6 1953 broad.mit.edu 37 1 3422007 3422007 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr1:3422007G>A uc001akl.2 - 16 2259 c.2032C>T c.(2032-2034)CGG>TGG p.R678W MEGF6_uc001akk.2_Missense_Mutation_p.R573W NM_001409 NP_001400 O75095 MEGF6_HUMAN EGF-like-domain, multiple 3 precursor 678 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) CGCTCGCCCCGGAAGCCAGCC 0.697 NA 3 9 0 0 0 0 SPEN 23013 broad.mit.edu 37 1 16203028 16203028 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr1:16203028C>T uc001axk.1 + 3 940 c.736C>T c.(736-738)CAT>TAT p.H246Y SPEN_uc010obp.1_Missense_Mutation_p.H205Y NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 246 Ser-rich.|Arg-rich.|By similarity. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TCGGTCACCACATTCATCCCA 0.542 NA 30 30 0 0 0 0 HSPG2 3339 broad.mit.edu 37 1 22169404 22169404 + Silent SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr1:22169404C>T uc001bfj.2 - 67 8809 c.8769G>A c.(8767-8769)CTG>CTA p.L2923L HSPG2_uc009vqd.2_Silent_p.L2924L NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 2923 Ig-like C2-type 14. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TGGGCTGGGCCAGTCCTGGAG 0.637 NA 6 54 0 0 0 0 TCEA3 6920 broad.mit.edu 37 1 23724057 23724057 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr1:23724057C>T uc001bgx.1 - 7 780 c.645G>A c.(643-645)ATG>ATA p.M215I TCEA3_uc009vqn.1_Missense_Mutation_p.M194I NM_003196 NP_003187 O75764 TCEA3_HUMAN transcription elongation factor A (SII), 3 215 TFIIS central. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent nucleus DNA binding|translation elongation factor activity|zinc ion binding 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198) TTTCTGATGCCATCTTGTCAC 0.498 NA 8 45 0 0 0 0 GRHL3 57822 broad.mit.edu 37 1 24663602 24663602 + Missense_Mutation SNP C C T rs149044763 by1000genomes TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr1:24663602C>T uc001biy.2 + 5 708 c.662C>T c.(661-663)CCG>CTG p.P221L GRHL3_uc001bix.2_Missense_Mutation_p.P216L|GRHL3_uc001biz.2_Missense_Mutation_p.P123L NM_021180 NP_067003 Q8TE85 GRHL3_HUMAN sister-of-mammalian grainyhead protein isoform 216 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) AAAACCTCCCCGGAACCCCCA 0.547 NA 5 25 0 0 0 0 TFAP2E 339488 broad.mit.edu 37 1 36060122 36060122 + Missense_Mutation SNP G G T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr1:36060122G>T uc010ohy.1 + 7 1382 c.1174G>T c.(1174-1176)GGC>TGC p.G392C PSMB2_uc001bzd.1_Intron NM_178548 NP_848643 Q6VUC0 AP2E_HUMAN transcription factor AP-2 epsilon (activating 392 H-S-H (helix-span-helix), dimerization. nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) CATCACCCATGGCTTCGGTGG 0.587 NA 22 26 5.26e-13 5.86e-13 1 0 GUCA2A 2980 broad.mit.edu 37 1 42628622 42628622 + Silent SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr1:42628622C>T uc001chd.1 - 3 315 c.303G>A c.(301-303)CCG>CCA p.P101P NM_033553 NP_291031 Q02747 GUC2A_HUMAN guanylate cyclase activator 2A precursor 101 signal transduction extracellular region guanylate cyclase activator activity|hormone activity pancreas(1) 1 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CACATGTGCCCGGGTCCTCAG 0.617 NA 10 46 0 0 0 0 CNN3 1266 broad.mit.edu 37 1 95367290 95367290 + Missense_Mutation SNP C C G TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr1:95367290C>G uc010otw.1 - 6 518 c.436G>C c.(436-438)GAA>CAA p.E146Q CNN3_uc010otv.1_Missense_Mutation_p.E105Q|CNN3_uc001dqz.3_Missense_Mutation_p.E146Q|CNN3_uc010otx.1_Missense_Mutation_p.E100Q NM_001839 NP_001830 Q15417 CNN3_HUMAN calponin 3 146 actomyosin structure organization|smooth muscle contraction actin binding|calmodulin binding|tropomyosin binding|troponin C binding 0 all_lung(203;0.00206)|Lung NSC(277;0.00948) all cancers(265;0.0325)|Epithelial(280;0.0861) GTTTGTTTTTCTGCATACTTA 0.363 NA 8 26 0 0 0 0 NOTCH2 4853 broad.mit.edu 37 1 120539834 120539834 + Nonsense_Mutation SNP A A T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr1:120539834A>T uc001eik.2 - 4 793 c.537T>A c.(535-537)TGT>TGA p.C179* NOTCH2_uc001eil.2_Nonsense_Mutation_p.C179*|NOTCH2_uc001eim.3_Nonsense_Mutation_p.C96* NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 179 Extracellular (Potential).|EGF-like 4. anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CATCAGTCTCACATTTCTGCC 0.552 NA N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 18 37 0 0 0 0 RNASEL 6041 broad.mit.edu 37 1 182555479 182555479 + Nonsense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr1:182555479G>A uc001gpj.1 - 1 630 c.463C>T c.(463-465)CGA>TGA p.R155* RNASEL_uc009wxz.1_Nonsense_Mutation_p.R155*|RNASEL_uc001gpk.2_Nonsense_Mutation_p.R155*|RNASEL_uc009wya.1_Nonsense_Mutation_p.R155* NM_021133 NP_066956 Q05823 RN5A_HUMAN ribonuclease L 155 mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding ovary(4)|stomach(1) 5 TTTGTCTTTCGCCTCAAATTC 0.468 NA Hereditary_Prostate_Cancer 3 23 0 0 0 0 RBM34 23029 broad.mit.edu 37 1 235301488 235301488 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr1:235301488G>A uc001hwn.2 - 7 733 c.703C>T c.(703-705)CGT>TGT p.R235C RBM34_uc001hwo.2_RNA|ARID4B_uc001hwp.2_RNA NM_015014 NP_055829 P42696 RBM34_HUMAN RNA binding motif protein 34 isoform 1 235 RRM 1. nucleolus nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121) TGAATTTTACGTCTACACCAA 0.333 NA 5 10 0 0 0 0 FMN2 56776 broad.mit.edu 37 1 240256066 240256066 + Silent SNP A A G TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr1:240256066A>G uc010pyd.1 + 1 882 c.657A>G c.(655-657)CAA>CAG p.Q219Q FMN2_uc010pye.1_Silent_p.Q219Q NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 219 Potential.|Gln-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) agctccagcaacagcagcagc 0.468 NA 6 6 0 0 0 0 CUBN 8029 broad.mit.edu 37 10 17142048 17142048 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr10:17142048C>T uc001ioo.2 - 14 1773 c.1721G>A c.(1720-1722)AGA>AAA p.R574K NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 574 CUB 1. 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) TCTCCCATTTCTTAAATGTTC 0.403 NA 22 149 0 0 0 0 ITGB1 3688 broad.mit.edu 37 10 33208820 33208820 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr10:33208820C>T uc001iws.3 - 11 1598 c.1462G>A c.(1462-1464)GCG>ACG p.A488T ITGB1_uc001iwp.3_Missense_Mutation_p.A488T|ITGB1_uc001iwq.3_Missense_Mutation_p.A488T|ITGB1_uc001iwr.3_Missense_Mutation_p.A488T|ITGB1_uc001iwt.3_Missense_Mutation_p.A488T|ITGB1_uc001iwu.1_Missense_Mutation_p.A488T NM_133376 NP_596867 P05556 ITB1_HUMAN integrin beta 1 isoform 1A precursor 488 Extracellular (Potential).|I.|Cysteine-rich tandem repeats. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(717;1.34e-05)|Breast(68;0.0634) TACCTGCACGCGCCACACTCA 0.453 NA 7 61 0 0 0 0 PCDH15 65217 broad.mit.edu 37 10 55566403 55566403 + Missense_Mutation SNP G G C TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr10:55566403G>C uc010qhq.1 - 36 5380 c.4985C>G c.(4984-4986)TCT>TGT p.S1662C PCDH15_uc010qhr.1_Missense_Mutation_p.S1657C NM_001142771 NP_001136243 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD3-1 precursor Error:Variant_position_missing_in_Q96QU1_after_alignment 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) TTCATCATCAGACTGTGTGTG 0.378 NA HNSCC(58;0.16) 34 44 0 0 0 0 GHITM 27069 broad.mit.edu 37 10 85903817 85903817 + Missense_Mutation SNP A A G TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr10:85903817A>G uc001kcs.1 + 4 500 c.296A>G c.(295-297)TAT>TGT p.Y99C GHITM_uc010qma.1_Missense_Mutation_p.M55V|GHITM_uc010qmb.1_Missense_Mutation_p.Y29C NM_014394 NP_055209 Q9H3K2 GHITM_HUMAN growth hormone inducible transmembrane protein 99 Helical; (Potential). apoptosis integral to membrane|mitochondrial inner membrane 0 TTGTGCTACTATGGCTTGGGA 0.418 NA 34 71 0 0 0 0 CCNJ 54619 broad.mit.edu 37 10 97810064 97810064 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr10:97810064C>T uc001klm.2 + 3 480 c.121C>T c.(121-123)CGG>TGG p.R41W uc001klg.1_Intron|uc001klj.1_Intron|uc009xvb.1_Intron|CCNJ_uc010qoq.1_Missense_Mutation_p.R41W|CCNJ_uc001kln.2_Missense_Mutation_p.R41W NM_019084 NP_061957 Q5T5M9 CCNJ_HUMAN cyclin J isoform 2 41 Cyclin N-terminal. nucleus ovary(1) 1 Epithelial(162;6.1e-08)|all cancers(201;2.32e-06) AAGTCTCAGACGGTATTTTGC 0.478 NA 21 47 0 0 0 0 DRD4 1815 broad.mit.edu 37 11 640559 640559 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr11:640559G>A uc001lqp.1 + 4 1216 c.1216G>A c.(1216-1218)GAG>AAG p.E406K NM_000797 NP_000788 P21917 DRD4_HUMAN dopamine receptor D4 454 Cytoplasmic (Potential). activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior integral to plasma membrane dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding 0 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703) Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246) CTTCAACGCCGAGTTCCGCAA 0.697 NA 16 72 0 0 0 0 MRPL17 63875 broad.mit.edu 37 11 6704513 6704513 + Silent SNP G G C TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr11:6704513G>C uc001men.2 - 1 120 c.15C>G c.(13-15)GTC>GTG p.V5V NM_022061 NP_071344 Q9NRX2 RM17_HUMAN mitochondrial ribosomal protein L17 precursor 5 translation ribosome protein domain specific binding|structural constituent of ribosome 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCGCTGCAGCGACCGACAGCC 0.632 NA OREG0020719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 15 0 0 0 0 MICAL2 9645 broad.mit.edu 37 11 12265567 12265567 + Missense_Mutation SNP C C A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr11:12265567C>A uc001mjz.2 + 21 2980 c.2692C>A c.(2692-2694)CAT>AAT p.H898N MICAL2_uc010rch.1_Intron|MICAL2_uc001mka.2_Missense_Mutation_p.H898N|MICAL2_uc010rci.1_Missense_Mutation_p.H898N|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 898 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding upper_aerodigestive_tract(2) 2 Epithelial(150;0.00552) GTCTCATACTCATCCTCCATC 0.473 NA 30 126 1.89e-17 2.12e-17 1 0 NAV2 89797 broad.mit.edu 37 11 20119263 20119263 + Silent SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr11:20119263G>A uc001mpr.3 + 31 6523 c.6162G>A c.(6160-6162)GAG>GAA p.E2054E NAV2_uc001mpp.2_Silent_p.E1987E|NAV2_uc009yhx.2_Silent_p.E1115E|NAV2_uc009yhz.2_Silent_p.E696E|NAV2_uc001mpu.2_Silent_p.E489E NM_182964 NP_892009 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 1 2110 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 TGGTTGGAGAGAACACGACCA 0.478 NA 18 76 0 0 0 0 OR5AR1 219493 broad.mit.edu 37 11 56432082 56432082 + Silent SNP A A G TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr11:56432082A>G uc010rjm.1 + 1 921 c.921A>G c.(919-921)AAA>AAG p.K307K NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, 307 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TAATTGGAAAAAAATCTCAAT 0.348 NA 11 14 0 0 0 0 KCNK4 50801 broad.mit.edu 37 11 64065047 64065047 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr11:64065047G>A uc001nzj.1 + 5 906 c.583G>A c.(583-585)GAG>AAG p.E195K KCNK4_uc001nzk.1_Intron|KCNK4_uc010rnk.1_Missense_Mutation_p.E23K|KCNK4_uc001nzl.1_Intron|KCNK4_uc001nzm.3_RNA|KCNK4_uc001nzn.1_Missense_Mutation_p.E195K|KCNK4_uc001nzo.2_Missense_Mutation_p.E195K|KCNK4_uc001nzp.1_Missense_Mutation_p.E81K|C11orf20_uc009ypm.2_5'Flank NM_033310 NP_201567 Q9NYG8 KCNK4_HUMAN TRAAK 195 integral to membrane potassium channel activity|voltage-gated ion channel activity 0 CTGCTATATGGAGGACTGGAG 0.577 NA 12 100 0 0 0 0 EHD1 10938 broad.mit.edu 37 11 64627529 64627529 + Missense_Mutation SNP G G A rs137874978 TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr11:64627529G>A uc001obu.1 - 3 1037 c.782C>T c.(781-783)CCG>CTG p.P261L EHD1_uc001obv.1_Missense_Mutation_p.P261L|EHD1_uc010rnq.1_Missense_Mutation_p.P275L NM_006795 NP_006786 Q9H4M9 EHD1_HUMAN EH-domain containing 1 261 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding 0 GATGAGGAGCGGGTGGGACCA 0.627 NA 6 71 0 0 0 0 INPPL1 3636 broad.mit.edu 37 11 71942214 71942214 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr11:71942214C>T uc001osf.2 + 12 1625 c.1478C>T c.(1477-1479)ACG>ATG p.T493M INPPL1_uc001osg.2_Missense_Mutation_p.T251M NM_001567 NP_001558 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 493 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding skin(2)|ovary(1)|breast(1) 4 AAGGAGCTTACGGATCTGGAT 0.592 NA 154 164 0 0 0 0 GDPD5 81544 broad.mit.edu 37 11 75152211 75152211 + Silent SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr11:75152211G>A uc001owo.3 - 15 2007 c.1470C>T c.(1468-1470)ATC>ATT p.I490I GDPD5_uc001owp.3_Silent_p.I490I|GDPD5_uc001own.3_Silent_p.I245I|GDPD5_uc009yuc.2_Silent_p.I352I|GDPD5_uc009yud.2_Silent_p.I371I NM_030792 NP_110419 Q8WTR4 GDPD5_HUMAN glycerophosphodiester phosphodiesterase domain 490 Extracellular (Potential). glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity ovary(1) 1 AACTCACCATGATCCAGAGGG 0.662 NA 10 35 0 0 0 0 KDM5A 5927 broad.mit.edu 37 12 406330 406330 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr12:406330G>A uc001qif.1 - 25 4474 c.4111C>T c.(4111-4113)CCC>TCC p.P1371S KDM5A_uc001qie.1_Missense_Mutation_p.P1371S NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 1371 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 AAAAGATTGGGTTCAAGACTA 0.413 NA T NUP98 AML 22 30 0 0 0 0 ZNF641 121274 broad.mit.edu 37 12 48737262 48737262 + Missense_Mutation SNP T T C TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr12:48737262T>C uc001rrn.1 - 6 976 c.811A>G c.(811-813)AAA>GAA p.K271E ZNF641_uc001rro.1_Missense_Mutation_p.K257E|ZNF641_uc010sls.1_Missense_Mutation_p.K248E NM_152320 NP_689533 Q96N77 ZN641_HUMAN zinc finger protein 641 271 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 ACAAACTGTTTCCCACACTGG 0.532 NA 13 52 0 0 0 0 KRT7 3855 broad.mit.edu 37 12 52627278 52627278 + Silent SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr12:52627278C>T uc001saa.1 + 1 325 c.198C>T c.(196-198)GTC>GTT p.V66V KRT7_uc009zmf.1_Silent_p.V66V NM_005556 NP_005547 P08729 K2C7_HUMAN keratin 7 66 Head. cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation Golgi apparatus|keratin filament|nucleus protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.105) TCCGCGAGGTCACCATTAACC 0.721 NA 12 15 0 0 0 0 C12orf12 196477 broad.mit.edu 37 12 91348029 91348029 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr12:91348029G>A uc001tbj.2 - 1 925 c.491C>T c.(490-492)GCG>GTG p.A164V NM_152638 NP_689851 Q8TC90 CL012_HUMAN hypothetical protein LOC196477 164 central_nervous_system(1)|pancreas(1) 2 GCTCACATCCGCTGGCGGGCT 0.687 NA 5 31 0 0 0 0 C12orf63 374467 broad.mit.edu 37 12 97085024 97085024 + Missense_Mutation SNP G G T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr12:97085024G>T uc001tet.1 + 11 1553 c.1475G>T c.(1474-1476)TGC>TTC p.C492F NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 492 skin(6)|ovary(1) 7 GCTGACATTTGCTCTGTAATT 0.363 NA 11 39 0.000978159 0.00102947 1 0 RPH3A 22895 broad.mit.edu 37 12 113332462 113332462 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr12:113332462G>A uc010syl.1 + 20 2217 c.1855G>A c.(1855-1857)GAG>AAG p.E619K RPH3A_uc001ttz.2_Missense_Mutation_p.E619K|RPH3A_uc001tty.2_Missense_Mutation_p.E615K|RPH3A_uc009zwe.1_Missense_Mutation_p.E614K|RPH3A_uc010sym.1_Missense_Mutation_p.E570K|RPH3A_uc001tua.2_Missense_Mutation_p.E379K NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog isoform 1 619 C2 2. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding ovary(3)|central_nervous_system(2)|skin(2) 7 BRCA - Breast invasive adenocarcinoma(302;0.00453) CGAATTCAATGAGGTAAGGCT 0.448 NA 3 11 0 0 0 0 MCF2L 23263 broad.mit.edu 37 13 113728844 113728844 + Silent SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr13:113728844G>A uc001vsu.2 + 10 1276 c.1254G>A c.(1252-1254)CTG>CTA p.L418L MCF2L_uc001vsq.2_Silent_p.L418L|MCF2L_uc010tjr.1_Silent_p.L361L|MCF2L_uc001vsr.2_Silent_p.L365L|MCF2L_uc001vss.3_Silent_p.L359L|MCF2L_uc010tjs.1_Silent_p.L359L|MCF2L_uc001vst.1_Silent_p.L323L NM_001112732 NP_001106203 O15068 MCF2L_HUMAN MCF.2 cell line derived transforming 391 Spectrin. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(1)|kidney(1) 2 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) AGCACCTGCTGAGGGACCTGG 0.617 NA 11 76 0 0 0 0 PCNX 22990 broad.mit.edu 37 14 71517433 71517433 + Missense_Mutation SNP G G T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr14:71517433G>T uc001xmo.2 + 23 4849 c.4403G>T c.(4402-4404)TGG>TTG p.W1468L PCNX_uc010are.1_Missense_Mutation_p.W1357L|PCNX_uc010arf.1_Missense_Mutation_p.W328L NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 1468 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CAGATCACATGGGGTTCTGCT 0.388 NA 84 31 6.16e-50 7.01e-50 1 0 DICER1 23405 broad.mit.edu 37 14 95570037 95570037 + Silent SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr14:95570037G>A uc001ydw.2 - 22 3878 c.3696C>T c.(3694-3696)AGC>AGT p.S1232S DICER1_uc010avh.1_Silent_p.S130S|DICER1_uc001ydv.2_Silent_p.S1222S|DICER1_uc001ydx.2_Silent_p.S1232S|DICER1_uc001ydy.1_Silent_p.S84S NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 1232 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TACATTCATCGCTGGGCTGGG 0.433 NA Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 39 77 0 0 0 0 IGF1R 3480 broad.mit.edu 37 15 99250815 99250815 + Missense_Mutation SNP G G T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr15:99250815G>T uc002bul.2 + 2 169 c.119G>T c.(118-120)CGC>CTC p.R40L IGF1R_uc010urq.1_Missense_Mutation_p.R40L|IGF1R_uc010bon.2_Missense_Mutation_p.R40L NM_000875 NP_000866 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor precursor 40 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding lung(3)|kidney(3)|ovary(1)|central_nervous_system(1) 8 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) ATCGACATCCGCAACGACTAT 0.502 NA 10 11 2.27e-07 2.47e-07 1 0 RNPS1 10921 broad.mit.edu 37 16 2314602 2314602 + Missense_Mutation SNP T T C TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr16:2314602T>C uc002cpt.2 - 2 589 c.43A>G c.(43-45)AAA>GAA p.K15E RNPS1_uc002cpu.2_Missense_Mutation_p.K15E|RNPS1_uc002cpv.2_Intron|RNPS1_uc002cpw.2_Missense_Mutation_p.K15E|RNPS1_uc002cpx.2_Intron|RNPS1_uc010uwa.1_Intron NM_080594 NP_542161 Q15287 RNPS1_HUMAN RNA-binding protein S1, serine-rich domain 15 Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|Lys-rich. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription cytosol|nuclear speck mRNA 3'-UTR binding|nucleotide binding|protein binding ovary(1) 1 TTATTTTCTTTGACTCCTAGC 0.443 NA 22 43 0 0 0 0 ZNF646 9726 broad.mit.edu 37 16 31091299 31091299 + Silent SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr16:31091299C>T uc002eap.2 + 2 3943 c.3654C>T c.(3652-3654)CTC>CTT p.L1218L NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 1218 C2H2-type 20. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 CCGGCAGCCTCATCAACCACC 0.637 NA 5 24 0 0 0 0 SALL1 6299 broad.mit.edu 37 16 51174003 51174003 + Silent SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr16:51174003G>A uc010vgs.1 - 2 2161 c.2130C>T c.(2128-2130)ATC>ATT p.I710I SALL1_uc010vgr.1_Silent_p.I613I|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 710 C2H2-type 3. adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CCCGGTGGCAGATGATGCACT 0.542 NA 28 49 0 0 0 0 GPR97 222487 broad.mit.edu 37 16 57719693 57719693 + Silent SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr16:57719693G>A uc002emh.2 + 11 1498 c.1395G>A c.(1393-1395)GCG>GCA p.A465A GPR97_uc010vhv.1_Silent_p.A345A|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_Silent_p.A73A NM_170776 NP_740746 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 precursor 465 Cytoplasmic (Potential). A -> V (in Ref. 4; AAH64508). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 GTGCTACAGCGGTCAAGGAGC 0.607 NA 8 48 0 0 0 0 PLA2G15 23659 broad.mit.edu 37 16 68289698 68289698 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr16:68289698C>T uc002evr.2 + 5 615 c.532C>T c.(532-534)CGC>TGC p.R178C PLA2G15_uc010vld.1_Intron|PLA2G15_uc010vle.1_Intron|PLA2G15_uc010vlf.1_Intron|PLA2G15_uc002evs.2_5'UTR NM_012320 NP_036452 Q8NCC3 PAG15_HUMAN lysophospholipase 3 (lysosomal phospholipase A2) 178 fatty acid catabolic process extracellular region|lysosome lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding ovary(1) 1 CCTGGCCCTCCGCGAGATGAT 0.607 NA 16 38 0 0 0 0 TMCO7 79613 broad.mit.edu 37 16 69056846 69056846 + Missense_Mutation SNP G G C TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr16:69056846G>C uc002ewi.3 + 16 2970 c.2958G>C c.(2956-2958)CAG>CAC p.Q986H NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN transmembrane and coiled-coil domains 7 986 HEAT 2. integral to membrane binding 0 Ovarian(137;0.0568) OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198) AGCTGTGCCAGAGGCTGGACT 0.517 NA 4 13 0 0 0 0 KCNG4 93107 broad.mit.edu 37 16 84255948 84255948 + Missense_Mutation SNP G G T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr16:84255948G>T uc010voc.1 - 3 1556 c.1435C>A c.(1435-1437)CAA>AAA p.Q479K NM_172347 NP_758857 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, 479 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3) 3 CCGGTGTTTTGGAGGTGGCGG 0.587 NA 34 103 1.42e-22 1.61e-22 1 0 TP53 7157 broad.mit.edu 37 17 7574003 7574003 + Nonsense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr17:7574003G>A uc002gim.2 - 10 1218 c.1024C>T c.(1024-1026)CGA>TGA p.R342* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.R210*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.R342* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 342 Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Nuclear export signal.|Interaction with HIPK2. R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> L (in a sporadic cancer; 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.R342*(49)|p.0?(7)|p.R342fs*3(5)|p.R342P(3)|p.R342Q(2)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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) TTCAGCTCTCGGAACATCTCG 0.498 111 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) 20 8 0 0 0 0 AP2B1 163 broad.mit.edu 37 17 34001260 34001260 + Silent SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr17:34001260G>A uc002hjr.2 + 16 2391 c.2202G>A c.(2200-2202)GGG>GGA p.G734G AP2B1_uc002hjq.2_Silent_p.G748G|AP2B1_uc010wci.1_Silent_p.G710G|AP2B1_uc002hjs.2_Silent_p.G677G|AP2B1_uc002hjt.2_Silent_p.G748G|AP2B1_uc010ctv.2_Silent_p.G748G|AP2B1_uc010wcj.1_Silent_p.G485G NM_001282 NP_001273 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 734 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity ovary(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) ACCGCCAAGGGCACATCTATA 0.418 NA 43 99 0 0 0 0 CASC3 22794 broad.mit.edu 37 17 38320341 38320341 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr17:38320341G>A uc010cwt.1 + 7 1688 c.1393G>A c.(1393-1395)GAT>AAT p.D465N CASC3_uc010cws.1_Missense_Mutation_p.D465N|CASC3_uc002hue.2_Missense_Mutation_p.D465N NM_007359 NP_031385 O15234 CASC3_HUMAN metastatic lymph node 51 465 Necessary for localization in cytoplasmic stress granules.|Nuclear export signal. mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding ovary(1) 1 ACTTGAGCAAGATGTGGCACA 0.517 NA 4 30 0 0 0 0 ITGA3 3675 broad.mit.edu 37 17 48145460 48145460 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr17:48145460C>T uc010dbl.2 + 4 919 c.455C>T c.(454-456)TCA>TTA p.S152L ITGA3_uc010dbm.2_Missense_Mutation_p.S152L NM_002204 NP_002195 P26006 ITA3_HUMAN integrin alpha 3 isoform a precursor 152 FG-GAP 2.|Extracellular (Potential). blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity ovary(2)|pancreas(1) 3 TGGTCAGGGTCAGAAGACCAG 0.617 NA 25 82 0 0 0 0 RNMT 8731 broad.mit.edu 37 18 13741657 13741657 + Missense_Mutation SNP T T C TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr18:13741657T>C uc002ksk.1 + 6 1008 c.941T>C c.(940-942)TTT>TCT p.F314S RNMT_uc002ksl.1_Missense_Mutation_p.F314S|RNMT_uc002ksm.1_Missense_Mutation_p.F314S|RNMT_uc010dlk.2_Missense_Mutation_p.F314S|RNMT_uc010xae.1_RNA NM_003799 NP_003790 O43148 MCES_HUMAN RNA (guanine-7-) methyltransferase 314 mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm mRNA (guanine-N7-)-methyltransferase activity|RNA binding 0 GGGGGCTATTTTATTGGTACT 0.363 NA 11 50 0 0 0 0 CDH7 1005 broad.mit.edu 37 18 63511084 63511084 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr18:63511084C>T uc002ljz.2 + 7 1343 c.1018C>T c.(1018-1020)CGG>TGG p.R340W CDH7_uc002lka.2_Missense_Mutation_p.R340W|CDH7_uc002lkb.2_Missense_Mutation_p.R340W NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 340 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) TTACACGCTACGGATAGAAGC 0.423 NA 14 26 0 0 0 0 CDH7 1005 broad.mit.edu 37 18 63547695 63547695 + Silent SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr18:63547695C>T uc002ljz.2 + 12 2248 c.1923C>T c.(1921-1923)GAC>GAT p.D641D CDH7_uc002lkb.2_Silent_p.D641D NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 641 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) TTATTTTTGACGAAGAAAGAG 0.443 NA 8 24 0 0 0 0 CPAMD8 27151 broad.mit.edu 37 19 17004117 17004117 + Silent SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr19:17004117G>A uc002nfb.2 - 42 5633 c.5601C>T c.(5599-5601)AGC>AGT p.S1867S CPAMD8_uc010xpj.1_3'UTR|CPAMD8_uc002nfd.1_3'UTR NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 1820 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 CCAGGTTCCCGCTGCTCACAG 0.642 NA 3 2 0 0 0 0 CLPTM1 1209 broad.mit.edu 37 19 45496031 45496031 + Missense_Mutation SNP C C T rs148362509 byFrequency TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr19:45496031C>T uc002pai.2 + 14 1901 c.1886C>T c.(1885-1887)ACG>ATG p.T629M CLPTM1_uc010xxf.1_Missense_Mutation_p.T527M|CLPTM1_uc010xxg.1_Missense_Mutation_p.T615M NM_001294 NP_001285 O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane 629 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) GCACCCACCACGACCACCGCC 0.697 NA 5 35 0 0 0 0 ZNF347 84671 broad.mit.edu 37 19 53644779 53644779 + Silent SNP G G A rs77716783 byFrequency TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr19:53644779G>A uc002qbb.1 - 5 1371 c.1302C>T c.(1300-1302)TGC>TGT p.C434C ZNF347_uc010eql.1_Silent_p.C435C|ZNF347_uc002qbc.1_Silent_p.C435C NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 434 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) AGGCTTTGCCGCACTCATTAC 0.423 NA 38 51 0 0 0 0 MTA3 57504 broad.mit.edu 37 2 42836614 42836614 + Missense_Mutation SNP A A C TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr2:42836614A>C uc002rso.1 + 5 709 c.39A>C c.(37-39)GAA>GAC p.E13D MTA3_uc002rsp.1_Missense_Mutation_p.E13D|MTA3_uc002rsq.2_Missense_Mutation_p.E69D|MTA3_uc002rsr.2_Missense_Mutation_p.E69D NM_020744 NP_065795 Q9BTC8 MTA3_HUMAN metastasis associated 1 family, member 3 69 BAH. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 TTGAGGAAGAATCTGAAACAA 0.343 NA 5 33 0 0 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026288 129026288 + Silent SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr2:129026288C>T uc002tpt.3 - 2 718 c.684G>A c.(682-684)ACG>ACA p.T228T NM_004807 NP_004798 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 228 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity pancreas(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) CCGACCAGTCCGTGCCCTCGT 0.662 NA 6 62 0 0 0 0 SCN1A 6323 broad.mit.edu 37 2 166908262 166908262 + Missense_Mutation SNP C C G TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr2:166908262C>G uc010zcz.1 - 6 949 c.931G>C c.(931-933)GAG>CAG p.E311Q SCN1A_uc002udo.3_Missense_Mutation_p.E180Q|SCN1A_uc010fpk.2_Missense_Mutation_p.E180Q NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 311 I. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CAGTCAAACTCAAAGACAGTT 0.234 NA 4 21 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179417913 179417913 + Missense_Mutation SNP T T C TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr2:179417913T>C uc010zfg.1 - 284 82234 c.82010A>G c.(82009-82011)AAT>AGT p.N27337S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N21032S|TTN_uc010zfi.1_Missense_Mutation_p.N20965S|TTN_uc010zfj.1_Missense_Mutation_p.N20840S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 28264 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) TCCTGTATCATTGCGAGTAAC 0.408 NA 8 81 0 0 0 0 CCDC141 285025 broad.mit.edu 37 2 179730517 179730517 + Missense_Mutation SNP C C T rs139607358 byFrequency TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr2:179730517C>T uc002unf.1 - 7 1033 c.976G>A c.(976-978)GCC>ACC p.A326T NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 326 Potential. protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TCTCTCATGGCGCAGTACTCC 0.532 NA 45 192 0 0 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802876 185802876 + Missense_Mutation SNP T T C TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr2:185802876T>C uc002uph.2 + 4 3347 c.2753T>C c.(2752-2754)GTC>GCC p.V918A NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 918 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 ACCACATCTGTCTGTGTAGCT 0.388 NA 11 64 0 0 0 0 CPS1 1373 broad.mit.edu 37 2 211471538 211471538 + Missense_Mutation SNP C C T rs147443001 TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr2:211471538C>T uc002vee.3 + 18 2197 c.2065C>T c.(2065-2067)CGC>TGC p.R689C CPS1_uc010fur.2_Missense_Mutation_p.R695C|CPS1_uc010fus.2_Missense_Mutation_p.R238C NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 689 ATP-grasp 1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CAATGTTGTTCGCCACTTGGG 0.468 NA 10 48 0 0 0 0 PYGB 5834 broad.mit.edu 37 20 25262744 25262744 + Silent SNP G G T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr20:25262744G>T uc002wup.2 + 12 1588 c.1479G>T c.(1477-1479)CTG>CTT p.L493L NM_002862 NP_002853 P11216 PYGB_HUMAN brain glycogen phosphorylase 493 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 Pyridoxal Phosphate(DB00114) GCCGGTGGCTGCTGCTGTGCA 0.592 NA 11 22 9.77e-05 0.000104143 1 0 ZNFX1 57169 broad.mit.edu 37 20 47864939 47864939 + Missense_Mutation SNP G G C TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr20:47864939G>C uc002xui.2 - 14 4869 c.4622C>G c.(4621-4623)ACT>AGT p.T1541S NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1541 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TAGCAGCTTAGTACAAGGCAC 0.572 NA 43 60 0 0 0 0 TH1L 51497 broad.mit.edu 37 20 57568743 57568743 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr20:57568743C>T uc002yag.2 + 13 1559 c.1532C>T c.(1531-1533)CCT>CTT p.P511L TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Intron NM_198976 NP_945327 Q8IXH7 NELFD_HUMAN TH1-like protein 511 negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_lung(29;0.00711) Colorectal(105;0.109) TATGTACTTCCTGTTGTCAGT 0.483 NA 12 51 0 0 0 0 PRAME 23532 broad.mit.edu 37 22 22899234 22899234 + Missense_Mutation SNP A A G rs2266988 byFrequency TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr22:22899234A>G uc002zwf.2 - 2 175 c.19T>C c.(19-21)TGG>CGG p.W7R LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_5'Flank|PRAME_uc010gtr.2_Missense_Mutation_p.W7R|PRAME_uc002zwg.2_Missense_Mutation_p.W7R|PRAME_uc002zwh.2_Missense_Mutation_p.W7R|PRAME_uc002zwi.2_Missense_Mutation_p.W7R|PRAME_uc002zwj.2_Missense_Mutation_p.W7R|PRAME_uc002zwk.2_Missense_Mutation_p.W7R|LOC648691_uc011ais.1_5'Flank NM_206956 NP_996839 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 7 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding p.W7R(1) central_nervous_system(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)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) CTTCTTACCCACAAACGCCTT 0.562 NA 8 148 0 0 0 0 GRAMD4 23151 broad.mit.edu 37 22 47059754 47059754 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr22:47059754C>T uc003bhx.2 + 6 658 c.619C>T c.(619-621)CGG>TGG p.R207W GRAMD4_uc010had.2_Missense_Mutation_p.R146W NM_015124 NP_055939 Q6IC98 GRAM4_HUMAN death-inducing-protein 207 apoptosis integral to membrane|mitochondrial membrane ovary(1) 1 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) AAATATGAGACGGCTCAGTGA 0.617 NA 9 34 0 0 0 0 BRPF1 7862 broad.mit.edu 37 3 9785382 9785382 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr3:9785382G>A uc003bse.2 + 8 2813 c.2414G>A c.(2413-2415)CGC>CAC p.R805H BRPF1_uc003bsf.2_Missense_Mutation_p.R811H|BRPF1_uc003bsg.2_Missense_Mutation_p.R804H|BRPF1_uc011ati.1_Missense_Mutation_p.R805H NM_004634 NP_004625 P55201 BRPF1_HUMAN bromodomain and PHD finger-containing protein 1 805 Required for RUNX1 and RUNX2 transcriptional activation.|Interaction with MEAF6 and ING5. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 Medulloblastoma(99;0.227) AGTGTGGGCCGCTCACGGCGT 0.592 NA 13 8 0 0 0 0 ABTB1 80325 broad.mit.edu 37 3 127394943 127394943 + Missense_Mutation SNP C C G rs75647091 by1000genomes TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr3:127394943C>G uc003ejt.2 + 4 394 c.306C>G c.(304-306)GAC>GAG p.D102E ABTB1_uc003ejr.2_5'UTR|ABTB1_uc003ejs.2_Missense_Mutation_p.D77E|ABTB1_uc003eju.2_5'UTR|ABTB1_uc010hsm.2_5'Flank NM_172027 NP_742024 Q969K4 ABTB1_HUMAN ankyrin repeat and BTB (POZ) domain containing 1 102 cytoplasm|nucleolus|plasma membrane translation elongation factor activity 0 ATTACTATGACGACTTCTTGC 0.642 NA 31 18 0 0 0 0 SENP2 59343 broad.mit.edu 37 3 185347618 185347618 + Nonsense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr3:185347618C>T uc003fpn.2 + 17 1927 c.1756C>T c.(1756-1758)CAG>TAG p.Q586* SENP2_uc011brv.1_Nonsense_Mutation_p.Q576*|SENP2_uc011brw.1_Nonsense_Mutation_p.Q399* NM_021627 NP_067640 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific protease 2 586 mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway cytoplasm|nuclear membrane|nuclear pore protein binding|SUMO-specific protease activity 0 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) AATCCTTCATCAGCAGTTGCT 0.468 NA 9 54 0 0 0 0 FAT4 79633 broad.mit.edu 37 4 126411278 126411278 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr4:126411278C>T uc003ifj.3 + 17 13301 c.13301C>T c.(13300-13302)CCG>CTG p.P4434L FAT4_uc011cgp.1_Missense_Mutation_p.P2675L|FAT4_uc003ifi.1_Missense_Mutation_p.P1911L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4434 EGF-like 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GCCTCCCACCCGTGCCAGAAT 0.607 NA 45 49 0 0 0 0 CDH9 1007 broad.mit.edu 37 5 26885757 26885757 + Silent SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr5:26885757G>A uc003jgs.1 - 11 2017 c.1848C>T c.(1846-1848)CTC>CTT p.L616L CDH9_uc011cnv.1_Silent_p.L209L NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 616 Helical; (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 GAATCGCAACGAGAGCTCCCG 0.512 NA 8 13 0 0 0 0 NNT 23530 broad.mit.edu 37 5 43616103 43616103 + Missense_Mutation SNP C C G TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr5:43616103C>G uc003joe.2 + 4 790 c.535C>G c.(535-537)CAG>GAG p.Q179E NNT_uc003jof.2_Missense_Mutation_p.Q179E NM_012343 NP_036475 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 179 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) GGCAATGGACCAGGTTCCAAG 0.423 NA 8 73 0 0 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202723 140202723 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr5:140202723G>A uc003lhl.2 + 1 1363 c.1363G>A c.(1363-1365)GCG>ACG p.A455T 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_Missense_Mutation_p.A455T|PCDHA5_uc003lhj.1_Missense_Mutation_p.A455T NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 455 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCGGCGTTCGCGCAGCCCCA 0.677 NA 12 40 0 0 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263856 140263856 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr5:140263856C>T uc003lif.2 + 1 2003 c.2003C>T c.(2002-2004)TCG>TTG p.S668L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.S668L|PCDHA13_uc003lid.2_Missense_Mutation_p.S668L NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 668 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGCTGTTGTCGCTGGTGGAG 0.672 NA 24 22 0 0 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140730444 140730444 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr5:140730444G>A uc003ljo.1 + 1 617 c.617G>A c.(616-618)CGC>CAC p.R206H PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.R206H NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 206 Extracellular (Potential).|Cadherin 2. 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) AGCTCTCATCGCTTAATCCTG 0.493 NA 20 24 0 0 0 0 GABRA1 2554 broad.mit.edu 37 5 161302579 161302579 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr5:161302579G>A uc010jiw.2 + 7 958 c.490G>A c.(490-492)GCT>ACT p.A164T GABRA1_uc010jix.2_Missense_Mutation_p.A164T|GABRA1_uc010jiy.2_Missense_Mutation_p.A164T|GABRA1_uc003lyx.3_Missense_Mutation_p.A164T|GABRA1_uc010jiz.2_Missense_Mutation_p.A164T|GABRA1_uc010jja.2_Missense_Mutation_p.A164T|GABRA1_uc010jjb.2_Missense_Mutation_p.A164T NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 164 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) GACAGTGAGAGCTGAATGTCC 0.373 NA 20 50 0 0 0 0 FGFR4 2264 broad.mit.edu 37 5 176523713 176523713 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr5:176523713G>A uc003mfl.2 + 16 2291 c.2124G>A c.(2122-2124)ATG>ATA p.M708I FGFR4_uc003mfm.2_Missense_Mutation_p.M708I|FGFR4_uc011dfu.1_Missense_Mutation_p.M640I|FGFR4_uc003mfo.2_Missense_Mutation_p.M668I NM_002011 NP_002002 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 isoform 1 708 Protein kinase.|Cytoplasmic (Potential). insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1) 16 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) GACATCGGATGGACCGACCCC 0.657 NA TSP Lung(9;0.080) 4 20 0 0 0 0 NSD1 64324 broad.mit.edu 37 5 176719035 176719035 + Missense_Mutation SNP C C G TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr5:176719035C>G uc003mfr.3 + 22 6477 c.6339C>G c.(6337-6339)ATC>ATG p.I2113M NSD1_uc003mft.3_Missense_Mutation_p.I1844M|NSD1_uc011dfx.1_Missense_Mutation_p.I1761M NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 2113 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AGGGTGAAATCACAAAGGAGC 0.483 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 6 8 0 0 0 0 BTNL8 79908 broad.mit.edu 37 5 180338567 180338567 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr5:180338567G>A uc003mmp.2 + 3 860 c.626G>A c.(625-627)CGG>CAG p.R209Q BTNL8_uc003mmq.2_Missense_Mutation_p.R209Q|BTNL8_uc011dhg.1_Missense_Mutation_p.R84Q|BTNL8_uc010jll.2_Missense_Mutation_p.R209Q|BTNL8_uc010jlm.2_Missense_Mutation_p.R93Q|BTNL8_uc011dhh.1_Missense_Mutation_p.R25Q NM_001040462 NP_001035552 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 isoform 2 precursor 209 Ig-like V-type 2.|Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGTTCCATGCGGCATGCTCAT 0.547 NA 23 27 0 0 0 0 MCHR2 84539 broad.mit.edu 37 6 100382357 100382357 + Missense_Mutation SNP G G T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr6:100382357G>T uc003pqh.1 - 5 939 c.624C>A c.(622-624)TTC>TTA p.F208L MCHR2_uc003pqi.1_Missense_Mutation_p.F208L NM_001040179 NP_001035269 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 208 Helical; Name=5; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 8 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) AGGGTAGAGGGAAAAAAAAAG 0.284 NA 43 26 3.55e-21 4e-21 1 0 MYCT1 80177 broad.mit.edu 37 6 153019042 153019042 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr6:153019042G>A uc003qpd.3 + 1 13 c.5G>A c.(4-6)CGA>CAA p.R2Q MYCT1_uc010kjc.1_Missense_Mutation_p.R2Q|MYCT1_uc003qpc.3_Missense_Mutation_p.R2Q NM_025107 NP_079383 Q8N699 MYCT1_HUMAN myc target 1 2 nucleus ovary(1) 1 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) CCTTTTATGCGAACACAAGTA 0.323 NA 28 11 0 0 0 0 RBAK 57786 broad.mit.edu 37 7 5097370 5097370 + Silent SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr7:5097370G>A uc010kss.1 + 5 522 c.198G>A c.(196-198)CCG>CCA p.P66P LOC389458_uc003snr.2_Silent_p.P66P|RBAK_uc003sns.1_Silent_p.P66P NM_021163 NP_066986 Q9NYW8 RBAK_HUMAN RB-associated KRAB repressor 66 KRAB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(3)|kidney(1)|skin(1) 5 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) GAGAGGAGCCGTGGATAATGG 0.453 NA 19 65 0 0 0 0 CHN2 1124 broad.mit.edu 37 7 29552210 29552210 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr7:29552210G>A uc003szz.2 + 13 1703 c.1266G>A c.(1264-1266)ATG>ATA p.M422I CHN2_uc011jzs.1_Missense_Mutation_p.M497I|CHN2_uc010kva.2_3'UTR|CHN2_uc010kvb.2_RNA|CHN2_uc010kvc.2_Missense_Mutation_p.M387I|CHN2_uc011jzt.1_Missense_Mutation_p.M435I|CHN2_uc010kvd.2_Missense_Mutation_p.M278I|CHN2_uc011jzu.1_Missense_Mutation_p.M407I|CHN2_uc010kvg.2_Missense_Mutation_p.M240I|CHN2_uc010kvh.2_Missense_Mutation_p.M182I|CHN2_uc010kvi.2_Missense_Mutation_p.M214I|CHN2_uc010kve.2_3'UTR|CHN2_uc003taa.2_Missense_Mutation_p.M286I|CHN2_uc010kvf.2_Missense_Mutation_p.M228I|CHN2_uc010kvj.2_Missense_Mutation_p.M195I|CHN2_uc010kvk.2_Missense_Mutation_p.M97I|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Missense_Mutation_p.M241I|CHN2_uc011jzv.1_Missense_Mutation_p.M215I NM_004067 NP_004058 P52757 CHIO_HUMAN beta chimerin isoform 2 422 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2) 2 ACAATTTCATGAATGCAGAAA 0.423 NA 18 55 0 0 0 0 FGL2 10875 broad.mit.edu 37 7 76826174 76826174 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr7:76826174C>T uc003ugb.2 - 2 782 c.742G>A c.(742-744)GGG>AGG p.G248R CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron NM_006682 NP_006673 Q14314 FGL2_HUMAN fibrinogen-like 2 precursor 248 Fibrinogen C-terminal. signal transduction fibrinogen complex receptor binding skin(2) 2 CAGCCTCCCCCCATGGTCTCC 0.493 NA 39 66 0 0 0 0 HYAL4 23553 broad.mit.edu 37 7 123516945 123516945 + Silent SNP G G A rs138391454 byFrequency TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr7:123516945G>A uc003vlc.2 + 5 1820 c.1182G>A c.(1180-1182)GCG>GCA p.A394A HYAL4_uc011knz.1_3'UTR NM_012269 NP_036401 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 394 Extracellular (Potential). fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity skin(1) 1 TGTGGAACGCGCCCAGTTACC 0.507 NA 27 28 0 0 0 0 OR6B1 135946 broad.mit.edu 37 7 143701141 143701141 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr7:143701141C>T uc003wdt.1 + 1 52 c.52C>T c.(52-54)CCT>TCT p.P18S NM_001005281 NP_001005281 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, 18 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.0783) GGTGGGATTCCCTGGGAGCTT 0.483 NA 14 25 0 0 0 0 ESRP1 54845 broad.mit.edu 37 8 95683890 95683890 + Missense_Mutation SNP G G C TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr8:95683890G>C uc003ygq.3 + 11 1626 c.1443G>C c.(1441-1443)TTG>TTC p.L481F ESRP1_uc003ygr.3_Missense_Mutation_p.L481F|ESRP1_uc003ygs.3_Missense_Mutation_p.L481F|ESRP1_uc003ygt.3_Missense_Mutation_p.L481F|ESRP1_uc003ygu.3_Missense_Mutation_p.L481F|ESRP1_uc003ygv.2_Missense_Mutation_p.L321F|ESRP1_uc003ygw.2_Missense_Mutation_p.L321F NM_017697 NP_060167 Q6NXG1 ESRP1_HUMAN RNA binding motif protein 35A isoform 1 481 RRM 3. mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) prostate(4) 4 ACATGGTTTTGAATCACCAGG 0.383 NA 5 23 0 0 0 0 DSCC1 79075 broad.mit.edu 37 8 120859281 120859281 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr8:120859281C>T uc003yov.2 - 4 661 c.526G>A c.(526-528)GAG>AAG p.E176K NM_024094 NP_076999 Q9BVC3 DCC1_HUMAN defective in sister chromatid cohesion 1 176 DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication chromatin|chromosome, centromeric region|nucleoplasm DNA binding|protein binding pancreas(1) 1 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) ATTTCTTCCTCACTTGCCTGA 0.308 NA 22 47 0 0 0 0 KIAA1797 54914 broad.mit.edu 37 9 20981650 20981650 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr9:20981650G>A uc003zog.1 + 40 4966 c.4603G>A c.(4603-4605)GGG>AGG p.G1535R KIAA1797_uc003zoh.1_Missense_Mutation_p.G971R NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 1535 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) TGAAGCTACTGGGAAAATTTT 0.463 NA 18 31 0 0 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971000 21971000 + Nonsense_Mutation SNP C C A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr9:21971000C>A uc003zpk.2 - 2 570 c.358G>T c.(358-360)GAG>TAG p.E120* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 120 ANK 4. E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(13)|p.E120*(8)|p.E120K(4)|p.E120A(1)|p.A118fs*10(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TGGCCCAGCTCCTCAGCCAGG 0.726 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 15 30 3.46e-05 3.73e-05 1 0 CDKN2A 1029 broad.mit.edu 37 9 21971028 21971028 + Nonsense_Mutation SNP C C T rs121913389 TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr9:21971028C>T uc003zpk.2 - 2 542 c.330G>A c.(328-330)TGG>TGA p.W110* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.G166R NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 110 ANK 4. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.W110*(38)|p.?(13)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110fs*36(1)|p.W110C(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCAGACGGCCCCAGGCATCGC 0.736 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 10 32 0 0 0 0 SVEP1 79987 broad.mit.edu 37 9 113170491 113170491 + Silent SNP G G C TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr9:113170491G>C uc010mtz.2 - 38 7726 c.7389C>G c.(7387-7389)CTC>CTG p.L2463L SVEP1_uc010mty.2_Silent_p.L389L NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 2463 Sushi 18. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 TGCAGGTATAGAGAGCTGTGC 0.478 NA 9 24 0 0 0 0 KIF12 113220 broad.mit.edu 37 9 116859596 116859596 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr9:116859596C>T uc004bif.2 - 4 455 c.217G>A c.(217-219)GAA>AAA p.E73K KIF12_uc004big.2_RNA NM_138424 NP_612433 Q96FN5 KIF12_HUMAN kinesin family member 12 206 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 TGCAAAAGTTCCATCAGGGCC 0.607 NA 3 21 0 0 0 0 OR1N1 138883 broad.mit.edu 37 9 125288840 125288840 + Missense_Mutation SNP C C T rs151154516 byFrequency TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr9:125288840C>T uc004bmn.1 - 1 733 c.733G>A c.(733-735)GTT>ATT p.V245I NM_012363 NP_036495 Q8NGS0 OR1N1_HUMAN olfactory receptor, family 1, subfamily N, 245 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1)|breast(1)|skin(1) 3 ACACAAACAACGCAGAGGTGG 0.547 NA 6 31 0 0 0 0 MAMDC4 158056 broad.mit.edu 37 9 139749038 139749038 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr9:139749038C>T uc004cjs.2 + 8 894 c.844C>T c.(844-846)CGC>TGC p.R282C MAMDC4_uc011mej.1_5'UTR NM_206920 NP_996803 Q6UXC1 AEGP_HUMAN apical early endosomal glycoprotein precursor 282 MAM 2.|Extracellular (Potential). protein transport integral to membrane breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1) 7 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) CCCATGGAACCGCTCGGAAGG 0.687 NA 5 11 0 0 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821173 5821173 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:5821173C>T uc010ndh.2 - 5 2047 c.1546G>A c.(1546-1548)GAC>AAC p.D516N NLGN4X_uc004crp.2_Missense_Mutation_p.D536N|NLGN4X_uc004crq.2_Missense_Mutation_p.D516N|NLGN4X_uc010ndi.2_Missense_Mutation_p.D553N|NLGN4X_uc004crr.2_Missense_Mutation_p.D516N|NLGN4X_uc010ndj.2_Missense_Mutation_p.D516N NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 516 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 AGCATGACGTCGTTCTTGGAA 0.537 NA 27 88 0 0 0 0 CASK 8573 broad.mit.edu 37 X 41401990 41401990 + Missense_Mutation SNP C C G TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:41401990C>G uc004dfl.3 - 22 2155 c.2109G>C c.(2107-2109)AAG>AAC p.K703N CASK_uc004dfj.3_Missense_Mutation_p.K243N|CASK_uc004dfk.3_Missense_Mutation_p.K518N|CASK_uc004dfm.3_Missense_Mutation_p.K680N|CASK_uc004dfn.3_Missense_Mutation_p.K674N NM_003688 NP_003679 O14936 CSKP_HUMAN calcium/calmodulin-dependent serine protein 703 cell adhesion actin cytoskeleton|cytoplasm|nucleus|plasma membrane ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity ovary(3)|lung(2)|stomach(1) 6 GCTTCTTTTTCTTGCCAAACC 0.418 NA 9 69 0 0 0 0 USP11 8237 broad.mit.edu 37 X 47101692 47101692 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:47101692G>A uc004dhp.2 + 10 1520 c.1520G>A c.(1519-1521)CGC>CAC p.R507H USP11_uc004dhq.2_Missense_Mutation_p.R234H NM_004651 NP_004642 P51784 UBP11_HUMAN ubiquitin specific peptidase 11 507 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1)|lung(1)|central_nervous_system(1) 3 GATCCGCGCCGCAAGCCAGAG 0.542 NA 6 22 0 0 0 0 ZNF81 347344 broad.mit.edu 37 X 47774432 47774432 + Missense_Mutation SNP A A T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:47774432A>T uc010nhy.1 + 6 755 c.387A>T c.(385-387)TTA>TTT p.L129F NM_007137 NP_009068 P51508 ZNF81_HUMAN zinc finger protein 81 129 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(315;0.0973) ACTCTATTTTAGAAGAATTGT 0.353 NA 21 25 0 0 0 0 FGD1 2245 broad.mit.edu 37 X 54476096 54476096 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:54476096G>A uc004dtg.2 - 14 2878 c.2144C>T c.(2143-2145)TCT>TTT p.S715F FGD1_uc011moi.1_Missense_Mutation_p.S473F NM_004463 NP_004454 P98174 FGD1_HUMAN faciogenital dysplasia protein 715 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|skin(2)|central_nervous_system(1) 6 TCTTACTGGAGAGTTGGGTGG 0.532 NA 11 126 0 0 0 0 ZCCHC13 389874 broad.mit.edu 37 X 73524500 73524500 + Nonsense_Mutation SNP C C A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:73524500C>A uc004ebs.3 + 1 476 c.399C>A c.(397-399)TGC>TGA p.C133* NM_203303 NP_976048 Q8WW36 ZCH13_HUMAN zinc finger, CCHC domain containing 13 133 CCHC-type 6. nucleic acid binding|zinc ion binding 0 GTTACCGATGCGGCGAGATTG 0.552 NA 13 28 0.00136819 0.00142594 1 0 ATP7A 538 broad.mit.edu 37 X 77267139 77267139 + Missense_Mutation SNP T T G TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:77267139T>G uc004ecx.3 + 9 2300 c.2140T>G c.(2140-2142)TTG>GTG p.L714V ATP7A_uc004ecw.2_3'UTR NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 714 Extracellular (Potential). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity 0 TGTTATGAATTTGCTGTCCTT 0.333 NA 97 184 0 0 0 0 TBX22 50945 broad.mit.edu 37 X 79281158 79281158 + Missense_Mutation SNP T T A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:79281158T>A uc010nmg.1 + 5 649 c.515T>A c.(514-516)ATC>AAC p.I172N TBX22_uc004edi.1_Missense_Mutation_p.I52N|TBX22_uc004edj.1_Missense_Mutation_p.I172N NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 172 T-box. multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 CATTTGTGCATCATTCCTAGA 0.498 NA 17 62 0 0 0 0 PCDH11X 27328 broad.mit.edu 37 X 91131788 91131788 + Missense_Mutation SNP C C A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:91131788C>A uc004efk.1 + 2 1394 c.549C>A c.(547-549)AAC>AAA p.N183K PCDH11X_uc004efl.1_Missense_Mutation_p.N183K|PCDH11X_uc004efo.1_Missense_Mutation_p.N183K|PCDH11X_uc010nmv.1_Missense_Mutation_p.N183K|PCDH11X_uc004efm.1_Missense_Mutation_p.N183K|PCDH11X_uc004efn.1_Missense_Mutation_p.N183K|PCDH11X_uc004efh.1_Missense_Mutation_p.N183K|PCDH11X_uc004efj.1_Missense_Mutation_p.N183K NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 183 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 AGAGTCAAAACATTTTTGGCC 0.284 NA 20 48 2.4e-15 2.68e-15 1 0 TCEAL6 158931 broad.mit.edu 37 X 101396190 101396190 + Silent SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:101396190C>T uc004eiq.2 - 3 275 c.114G>A c.(112-114)GCG>GCA p.A38A NM_001006938 NP_001006939 Q6IPX3 TCAL6_HUMAN transcription elongation factor A (SII)-like 6 38 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.A38T(1) ovary(1) 1 tcttcccctccgcgtctggct 0.144 NA 11 53 0 0 0 0 OCRL 4952 broad.mit.edu 37 X 128696645 128696645 + Missense_Mutation SNP C C G TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:128696645C>G uc004euq.2 + 12 1291 c.1126C>G c.(1126-1128)CTG>GTG p.L376V OCRL_uc004eur.2_Missense_Mutation_p.L376V NM_000276 NP_000267 Q01968 OCRL_HUMAN phosphatidylinositol polyphosphate 5-phosphatase 376 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding lung(2)|ovary(1)|kidney(1) 4 CAATTCCCATCTGGCTGCACA 0.428 NA 21 96 0 0 0 0 BCORL1 63035 broad.mit.edu 37 X 129159271 129159271 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:129159271G>A uc004evb.1 + 7 4109 c.3995G>A c.(3994-3996)CGA>CAA p.R1332Q BCORL1_uc010nrd.1_Intron|BCORL1_uc004evc.1_Missense_Mutation_p.R94Q NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 1332 Nuclear localization signal (Potential). chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 AGGAAGAAACGAAGACGGCAG 0.498 NA 42 39 0 0 0 0 SPANXN1 494118 broad.mit.edu 37 X 144337190 144337190 + Splice_Site SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:144337190G>A uc004fcb.2 + 2 76 c.76_splice c.e2-1 p.M26_splice NM_001009614 NP_001009614 Q5VSR9 SPXN1_HUMAN SPANX-N1 protein 0 Acute lymphoblastic leukemia(192;6.56e-05) TTTCTTAACAGATGCAGGAGA 0.443 NA 16 69 0 0 0 0 CLCC1 23155 broad.mit.edu 37 1 109479802 109479803 + Frame_Shift_Del DEL TC TC - TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr1:109479802_109479803delTC uc001dwe.1 - 10 1371_1372 c.1279_1280delGA c.(1279-1281)GATfs p.D427fs AKNAD1_uc010ovb.1_Intron|CLCC1_uc001dwf.1_Frame_Shift_Del_p.D427fs|CLCC1_uc001dwg.1_Frame_Shift_Del_p.D377fs|CLCC1_uc009wes.1_Frame_Shift_Del_p.D306fs|CLCC1_uc009wet.1_Frame_Shift_Del_p.D242fs NM_001048210 NP_001041675 Q96S66 CLCC1_HUMAN Mid-1-related chloride channel 1 isoform 1 427 endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus liver(1) 1 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231) CAAGTCAACATCTCTCTCTCTC 0.52 NA 21 55 --- --- --- --- NA NA NA NA C12orf63 374467 broad.mit.edu 37 12 97043730 97043733 + Frame_Shift_Del DEL ACAA ACAA - TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr12:97043730_97043733delACAA uc001tet.1 + 2 105_108 c.27_30delACAA c.(25-30)ACACAAfs p.T9fs NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 9_10 skin(6)|ovary(1) 7 TGTCCAAGACACAAACAGTTTATG 0.299 NA 27 41 --- --- --- --- NA NA NA NA JUB 84962 broad.mit.edu 37 14 23447637 23447651 + In_Frame_Del DEL TGCACTTGATACAGG TGCACTTGATACAGG - TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr14:23447637_23447651delTGCACTTGATACAGG uc001whz.2 - 2 1386_1400 c.1010_1024delCCTGTATCAAGTGCA c.(1009-1026)ACCTGTATCAAGTGCAAC>AAC p.TCIKC337del JUB_uc001why.2_5'Flank NM_032876 NP_116265 Q96IF1 JUB_HUMAN ajuba isoform 1 337_341 LIM zinc-binding 1. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding 0 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0122) ATGCCTTTGTTGCACTTGATACAGGTGCCTGAGAA 0.54 NA 42 63 --- --- --- --- NA NA NA NA IMP3 55272 broad.mit.edu 37 15 75932053 75932054 + Frame_Shift_Ins INS - - GC TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr15:75932053_75932054insGC uc002bat.2 - 2 1400_1401 c.456_457insGC c.(454-459)CGCAGCfs p.R152fs IMP3_uc010bkl.1_Frame_Shift_Ins_p.R152fs NM_018285 NP_060755 Q9NV31 IMP3_HUMAN IMP3, U3 small nucleolar ribonucleoprotein 152_153 S4 RNA-binding. rRNA processing nucleolus|ribonucleoprotein complex protein binding|rRNA binding 0 TCCTCCATGCTGCGCGTGACAA 0.609 NA 37 106 --- --- --- --- NA NA NA NA PHF23 79142 broad.mit.edu 37 17 7139476 7139484 + In_Frame_Del DEL TCCTCTTCC TCCTCTTCC - TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr17:7139476_7139484delTCCTCTTCC uc002gfa.2 - 4 989_997 c.762_770delGGAAGAGGA c.(760-771)GAGGAAGAGGAA>GAA p.254_257EEEE>E DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_In_Frame_Del_p.187_190EEEE>E|PHF23_uc010cma.2_In_Frame_Del_p.124_127EEEE>E NM_024297 NP_077273 Q9BUL5 PHF23_HUMAN PHD finger protein 23 254_257 Poly-Glu. zinc ion binding 0 ttcttcttcttcctcttcctcctcttcct 0.502 NA 8 131 --- --- --- --- NA NA NA NA RBM5 10181 broad.mit.edu 37 3 50144226 50144227 + Frame_Shift_Del DEL AC AC - TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr3:50144226_50144227delAC uc003cyg.2 + 11 1030_1031 c.882_883delAC c.(880-885)TTACAGfs p.L294fs RBM5_uc011bdj.1_Frame_Shift_Del_p.L238fs|RBM5_uc011bdk.1_Frame_Shift_Del_p.L122fs NM_005778 NP_005769 P52756 RBM5_HUMAN RNA binding motif protein 5 294_295 RRM 2. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TTCAGATATTACAGAGTCTCCA 0.396 NA 24 31 --- --- --- --- NA NA NA NA TP63 8626 broad.mit.edu 37 3 189526228 189526229 + Frame_Shift_Ins INS - - A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr3:189526228_189526229insA uc003fry.2 + 4 581_582 c.492_493insA c.(490-495)GCCATCfs p.A164fs TP63_uc003frx.2_Frame_Shift_Ins_p.A164fs|TP63_uc003frz.2_Frame_Shift_Ins_p.A164fs|TP63_uc010hzc.1_Frame_Shift_Ins_p.A164fs|TP63_uc003fsa.2_Frame_Shift_Ins_p.A70fs|TP63_uc003fsb.2_Frame_Shift_Ins_p.A70fs|TP63_uc003fsc.2_Frame_Shift_Ins_p.A70fs|TP63_uc003fsd.2_Frame_Shift_Ins_p.A70fs|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Frame_Shift_Ins_p.A45fs NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 164_165 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) CATCACCCGCCATCCCCTCCAA 0.644 NA Hay-Wells_syndrome HNSCC(45;0.13) 26 56 --- --- --- --- NA NA NA NA RGAG1 57529 broad.mit.edu 37 X 109694331 109694332 + Frame_Shift_Del DEL AG AG - TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:109694331_109694332delAG uc004eor.1 + 3 732_733 c.486_487delAG c.(484-489)GCAGAGfs p.A162fs RGAG1_uc011msr.1_Frame_Shift_Del_p.A162fs NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 162_163 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 CAGATTCTGCAGAGATATCACC 0.48 NA 16 111 --- --- --- --- NA NA NA NA