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 ACHILLES_Top_Genes 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 pox_cutoff isArtifactMode oxoGCut PRAMEF18 391003 broad.mit.edu 37 1 13695841 13695841 + Missense_Mutation SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:13695841C>T uc009vny.1 - 3 1171 c.1124G>A c.(1123-1125)CGC>CAC p.R375H NM_001099850 NP_001093320 Q5VWM3 PRA18_HUMAN PRAME family member 18 375 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTTGGAGCAGCGGCTCAGGGC 0.557 NA 36 135 0 0 0.013114 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18809312 18809312 + Missense_Mutation SNP G G C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:18809312G>C uc001bax.2 + 1 1889 c.1837G>C c.(1837-1839)GAC>CAC p.D613H KLHDC7A_uc009vpg.2_Missense_Mutation_p.D395H NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 613 Kelch 4. integral to membrane ovary(2)|upper_aerodigestive_tract(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGACCGCTGGGACTTTGCCCC 0.692 NA 7 17 0 0 0.004482 0 0 LUZP1 7798 broad.mit.edu 37 1 23417973 23417973 + Nonsense_Mutation SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:23417973G>A uc001bgk.2 - 4 3166 c.2782C>T c.(2782-2784)CGA>TGA p.R928* LUZP1_uc010odv.1_Nonsense_Mutation_p.R928*|LUZP1_uc001bgl.2_Nonsense_Mutation_p.R928*|LUZP1_uc001bgm.1_Nonsense_Mutation_p.R928* NM_033631 NP_361013 Q86V48 LUZP1_HUMAN leucine zipper protein 1 928 nucleus 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) TTCAAGTCTCGCCTACTCTTC 0.493 NA 37 172 0 0 0.00623 0 0 SLC30A2 7780 broad.mit.edu 37 1 26369043 26369043 + Missense_Mutation SNP G G C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:26369043G>C uc001blh.1 - 4 799 c.582C>G c.(580-582)TTC>TTG p.F194L SLC30A2_uc001blg.1_Missense_Mutation_p.F243L NM_032513 NP_115902 Q9BRI3 ZNT2_HUMAN solute carrier family 30, member 2 isoform 2 194 Vacuolar (Potential). positive regulation of sequestering of zinc ion|zinc ion transport integral to membrane|late endosome|lysosomal membrane cation transmembrane transporter activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649) CTCTGACCTTGAAGTATAAAA 0.542 NA 23 86 0 0 0.003954 0 0 FAM76A 199870 broad.mit.edu 37 1 28081716 28081716 + Missense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:28081716G>T uc001boq.2 + 7 712 c.610G>T c.(610-612)GAC>TAC p.D204Y FAM76A_uc009vtb.2_Missense_Mutation_p.D204Y|FAM76A_uc001bor.2_Missense_Mutation_p.D238Y|FAM76A_uc001bos.2_Missense_Mutation_p.D209Y|FAM76A_uc001bot.2_Missense_Mutation_p.D175Y|FAM76A_uc010ofm.1_Missense_Mutation_p.D124Y NM_152660 NP_689873 Q8TAV0 FA76A_HUMAN hypothetical protein LOC199870 isoform 3 204 0 Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649) CTTCTCCCCAGACCTGGCTCT 0.438 NA 26 158 4.87955e-14 6.2123e-14 0.005443 1 0 YTHDF2 51441 broad.mit.edu 37 1 29069062 29069062 + Missense_Mutation SNP A A T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:29069062A>T uc001brc.2 + 4 777 c.280A>T c.(280-282)AAC>TAC p.N94Y YTHDF2_uc001brd.2_Missense_Mutation_p.N91Y|YTHDF2_uc010ofx.1_Missense_Mutation_p.N44Y|YTHDF2_uc001bre.2_Missense_Mutation_p.N44Y NM_016258 NP_057342 Q9Y5A9 YTHD2_HUMAN high glucose-regulated protein 8 94 humoral immune response ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) ACAGCTGAGCAACGGAGAGCC 0.512 NA 29 173 0 0 0.013726 0 0 SLC6A9 6536 broad.mit.edu 37 1 44463634 44463634 + Missense_Mutation SNP C C G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:44463634C>G uc001cll.2 - 13 2011 c.1819G>C c.(1819-1821)GGC>CGC p.G607R SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|SLC6A9_uc001clm.2_Missense_Mutation_p.G553R|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.G538R|SLC6A9_uc001cln.2_Missense_Mutation_p.G534R|SLC6A9_uc010oko.1_Missense_Mutation_p.G423R NM_201649 NP_964012 P48067 SC6A9_HUMAN solute carrier family 6 member 9 isoform 2 607 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity 0 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) ACGGCCCAGCCTGGGTACTGG 0.607 NA 7 42 0 0 0.013537 0 0 AK5 26289 broad.mit.edu 37 1 77752671 77752671 + Nonsense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:77752671G>T uc001dhn.2 + 2 363 c.106G>T c.(106-108)GAA>TAA p.E36* AK5_uc001dho.2_Nonsense_Mutation_p.E10*|AK5_uc001dhm.1_Nonsense_Mutation_p.E36* NM_174858 NP_777283 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 isoform 1 36 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity skin(1) 1 AGATCCAGTAGAATACTTGGA 0.363 NA 28 54 1.08312e-15 1.41001e-15 0.009535 1 0 VCAM1 7412 broad.mit.edu 37 1 101188709 101188709 + Silent SNP C C G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:101188709C>G uc001dti.2 + 3 594 c.474C>G c.(472-474)CTC>CTG p.L158L VCAM1_uc001dtj.2_Silent_p.L158L|VCAM1_uc010ouj.1_Silent_p.L96L NM_001078 NP_001069 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 isoform a 158 Ig-like C2-type 2.|Extracellular (Potential). heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(1) 1 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) GAGATCATCTCATGAAGAGTC 0.463 NA 6 39 0 0 0.001168 0 0 OR10T2 128360 broad.mit.edu 37 1 158368421 158368421 + Missense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:158368421G>T uc010pih.1 - 1 836 c.836C>A c.(835-837)ACA>AAA p.T279K NM_001004475 NP_001004475 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, 279 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_hematologic(112;0.0378) AGTAACCACTGTGTAGGTCAC 0.473 NA 5 35 0.000602214 0.000632873 0.000602 1 0 OR10K2 391107 broad.mit.edu 37 1 158389737 158389737 + Missense_Mutation SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:158389737C>A uc010pii.1 - 1 920 c.920G>T c.(919-921)AGA>ATA p.R307I NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, 307 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) GGAAATTGTTCTTCTCACAAT 0.199 NA 25 55 2.27525e-19 3.0025e-19 0.003954 1 0 SPTA1 6708 broad.mit.edu 37 1 158585067 158585067 + Missense_Mutation SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:158585067C>A uc001fst.1 - 48 6926 c.6727G>T c.(6727-6729)GAC>TAC p.D2243Y NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2243 Spectrin 21. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TAGAGCTGGTCCCACTGCTGA 0.542 NA 112 208 3.04319e-57 4.37554e-57 0.01441 1 0 SPTA1 6708 broad.mit.edu 37 1 158654955 158654955 + Silent SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:158654955G>T uc001fst.1 - 2 406 c.207C>A c.(205-207)ATC>ATA p.I69I NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 69 Spectrin 2. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CTTTCTCCATGATCCACTtcc 0.294 NA 13 91 5.50884e-06 5.98516e-06 0.013537 1 0 FCGR3A 2214 broad.mit.edu 37 1 161518298 161518298 + Missense_Mutation SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:161518298C>A uc001gat.3 - 4 369 c.232G>T c.(232-234)GCT>TCT p.A78S FCGR3A_uc001gar.2_Missense_Mutation_p.A114S|FCGR3A_uc001gas.2_Missense_Mutation_p.A113S|FCGR3A_uc009wuh.2_Missense_Mutation_p.A77S|FCGR3A_uc009wui.2_Missense_Mutation_p.A78S NM_001127595 NP_001121067 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor 78 Ig-like C2-type 1.|Extracellular (Potential). immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity ovary(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ACTGTGGCAGCGTCAATGAAG 0.542 NA 7 351 9.31168e-06 1.00789e-05 0.001855 1 0 FCGR3B 2215 broad.mit.edu 37 1 161599655 161599655 + Missense_Mutation SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:161599655C>A uc009wul.2 - 3 506 c.232G>T c.(232-234)GCT>TCT p.A78S NM_000570 NP_000561 O75015 FCG3B_HUMAN low affinity immunoglobulin gamma Fc region 78 Ig-like C2-type 1. immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity 0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ACTGTGGCAGCGTCAATGAAG 0.532 NA 25 136 1.56442e-22 2.12261e-22 0.012213 1 0 DDR2 4921 broad.mit.edu 37 1 162740216 162740216 + Missense_Mutation SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:162740216G>A uc001gcf.2 + 13 1883 c.1418G>A c.(1417-1419)CGC>CAC p.R473H DDR2_uc001gcg.2_Missense_Mutation_p.R473H NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 473 Cytoplasmic (Potential). cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(2)|central_nervous_system(2)|ovary(1)|kidney(1) 6 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) ACTTACGATCGCATCTTTCCC 0.512 NSCLC(161;314 2006 8283 19651 23192) NA 6 270 0 0 0.001168 0 0 BLZF1 8548 broad.mit.edu 37 1 169356319 169356319 + Missense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:169356319G>T uc001gfx.1 + 7 1539 c.1102G>T c.(1102-1104)GCT>TCT p.A368S BLZF1_uc001gfy.2_Missense_Mutation_p.A368S|BLZF1_uc009wvp.1_3'UTR NM_003666 NP_003657 Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 368 A -> V (in Ref. 2; AAG37822). cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding skin(1) 1 all_hematologic(923;0.208) CACCTTACTTGCTACAAAGAA 0.358 NA 34 93 7.04047e-22 9.46371e-22 0.005524 1 0 F5 2153 broad.mit.edu 37 1 169526011 169526011 + Silent SNP G G T rs144375278 by1000genomes TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:169526011G>T uc001ggg.1 - 6 970 c.825C>A c.(823-825)GTC>GTA p.V275V F5_uc010plr.1_RNA NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 275 F5/8 type A 1.|Plastocyanin-like 2. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TCTGCTCCAGGACCTGGCCGT 0.498 NA 14 51 2.31682e-05 2.48908e-05 0.003163 1 0 CENPL 91687 broad.mit.edu 37 1 173772116 173772116 + Silent SNP A A C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:173772116A>C uc001gje.3 - 4 1162 c.948T>G c.(946-948)ACT>ACG p.T316T CENPL_uc009wwg.2_Silent_p.T190T|CENPL_uc001gjg.3_Silent_p.T362T|CENPL_uc001gjf.3_Silent_p.T316T NM_033319 NP_201576 Q8N0S6 CENPL_HUMAN centromere protein L isoform 2 316 mitotic prometaphase chromosome, centromeric region|cytosol|nucleus 0 TTTTTCCATCAGTATGTGCTG 0.303 NA 3 77 0 0 0.004672 0 0 ASPM 259266 broad.mit.edu 37 1 197062239 197062239 + Missense_Mutation SNP A A T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:197062239A>T uc001gtu.2 - 21 9494 c.9237T>A c.(9235-9237)TTT>TTA p.F3079L ASPM_uc001gtv.2_Missense_Mutation_p.F1494L|ASPM_uc001gtw.3_Missense_Mutation_p.F927L NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 3079 IQ 37. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TAGATTTTTTAAATTCAATAT 0.358 NA 6 80 0 0 0.001168 0 0 IPO9 55705 broad.mit.edu 37 1 201837855 201837855 + Missense_Mutation SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:201837855G>A uc001gwz.2 + 16 1985 c.1935G>A c.(1933-1935)ATG>ATA p.M645I NM_018085 NP_060555 Q96P70 IPO9_HUMAN importin 9 645 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity ovary(2) 2 CAATGCAAATGAGGCTGATTC 0.498 NA 5 30 0 0 0.001168 0 0 GNPAT 8443 broad.mit.edu 37 1 231403468 231403468 + Silent SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:231403468C>T uc001hup.3 + 9 1304 c.1098C>T c.(1096-1098)GTC>GTT p.V366V GNPAT_uc009xfp.2_Silent_p.V305V NM_014236 NP_055051 O15228 GNPAT_HUMAN glyceronephosphate O-acyltransferase 366 ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity ovary(3)|breast(1) 4 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) ATGCCTTTGTCACTGAAGTTG 0.433 NA 38 126 0 0 0.00623 0 0 PCNXL2 80003 broad.mit.edu 37 1 233394778 233394778 + Missense_Mutation SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:233394778C>T uc001hvl.2 - 5 1065 c.830G>A c.(829-831)GGG>GAG p.G277E PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 277 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) ATTCTCACTCCCCCACGGCTG 0.527 NA 3 69 0 0 0.004672 0 0 TBCE 6905 broad.mit.edu 37 1 235600787 235600787 + Nonsense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:235600787G>T uc001hwz.1 + 12 1237 c.1114G>T c.(1114-1116)GAG>TAG p.E372* TBCE_uc010pxq.1_RNA|TBCE_uc001hxa.1_Nonsense_Mutation_p.E372*|TBCE_uc010pxr.1_Nonsense_Mutation_p.E423*|TBCE_uc001hxb.1_Nonsense_Mutation_p.E259* NM_003193 NP_003184 Q15813 TBCE_HUMAN beta-tubulin cofactor E 372 LRRCT. 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding 0 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) GAACAAATGTGAGGTGAGCAC 0.353 NA 11 61 3.07112e-06 3.34926e-06 0.010729 1 0 ZP4 57829 broad.mit.edu 37 1 238048822 238048822 + Silent SNP C C G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:238048822C>G uc001hym.2 - 8 1029 c.1029G>C c.(1027-1029)CGG>CGC p.R343R LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 343 ZP.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) AAATGGGATCCCGAAGCAACT 0.498 NSCLC(166;160 2029 11600 18754 19936) NA 34 64 0 0 0.004289 0 0 FMN2 56776 broad.mit.edu 37 1 240374446 240374446 + Missense_Mutation SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:240374446C>A uc010pyd.1 + 6 4201 c.3976C>A c.(3976-3978)CAT>AAT p.H1326N FMN2_uc010pye.1_Missense_Mutation_p.H1330N NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1326 FH2. 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) CATAGATTGTCATGAATTTGA 0.328 NA 44 118 1.30916e-28 1.82777e-28 0.01441 1 0 OR2T2 401992 broad.mit.edu 37 1 248616356 248616356 + Silent SNP C C G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:248616356C>G uc001iek.1 + 1 258 c.258C>G c.(256-258)CTC>CTG p.L86L NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, 86 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCCAGGACCTCCTGTCCAAGG 0.532 NA 7 227 0 0 0.014323 0 0 CDC123 8872 broad.mit.edu 37 10 12272994 12272994 + Missense_Mutation SNP A A G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr10:12272994A>G uc001ill.2 + 7 772 c.488A>G c.(487-489)GAG>GGG p.E163G CDC123_uc001ilm.2_Missense_Mutation_p.E163G NM_006023 NP_006014 O75794 CD123_HUMAN cell division cycle 123 163 cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle cytoplasm central_nervous_system(1) 1 ATAGAATATGAGGTAAGAAGC 0.308 NA 14 46 0 0 0.00499 0 0 ITGA8 8516 broad.mit.edu 37 10 15655663 15655663 + Missense_Mutation SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr10:15655663C>A uc001ioc.1 - 15 1549 c.1549G>T c.(1549-1551)GCC>TCC p.A517S ITGA8_uc010qcb.1_Missense_Mutation_p.A502S NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 517 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 ACTCACCAGGCAGCAGATGTC 0.264 NA 26 209 7.92952e-12 9.83533e-12 0.003954 1 0 SLC39A12 221074 broad.mit.edu 37 10 18276417 18276417 + Missense_Mutation SNP A A G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr10:18276417A>G uc001ipo.2 + 7 1379 c.1106A>G c.(1105-1107)TAC>TGC p.Y369C SLC39A12_uc001ipn.2_Missense_Mutation_p.Y369C|SLC39A12_uc001ipp.2_Missense_Mutation_p.Y369C|SLC39A12_uc010qck.1_Missense_Mutation_p.Y235C NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 369 Cytoplasmic (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 GAATACGGCTACAGCACGGTG 0.527 NA 8 43 0 0 0.001855 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37422904 37422904 + Missense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr10:37422904G>T uc001iza.1 + 5 609 c.510G>T c.(508-510)CAG>CAT p.Q170H NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 226 ANK 5. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 TGCTTCTTCAGCAAAATGTTG 0.383 NA 75 215 4.18771e-30 5.90365e-30 0.01441 1 0 ANKRD30A 91074 broad.mit.edu 37 10 37430832 37430832 + Missense_Mutation SNP C C G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr10:37430832C>G uc001iza.1 + 7 938 c.839C>G c.(838-840)TCT>TGT p.S280C NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 336 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 GAGGGAACATCTGACAAAATT 0.468 NA 18 70 0 0 0.008871 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508196 37508196 + Missense_Mutation SNP C C G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr10:37508196C>G uc001iza.1 + 34 3487 c.3388C>G c.(3388-3390)CAA>GAA p.Q1130E NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1186 Potential. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 GAAGGAAAAACAAGACAAAGA 0.373 NA 6 90 0 0 0.00308 0 0 SLC16A9 220963 broad.mit.edu 37 10 61413507 61413507 + Missense_Mutation SNP T T C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr10:61413507T>C uc010qig.1 - 5 1726 c.1277A>G c.(1276-1278)GAA>GGA p.E426G NM_194298 NP_919274 Q7RTY1 MOT9_HUMAN solute carrier family 16 (monocarboxylic acid 426 Extracellular (Potential). urate metabolic process integral to membrane|plasma membrane symporter activity skin(2)|ovary(1) 3 GGCTAATTTTTCAATTCCCAC 0.408 NA 4 161 0 0 0.001168 0 0 ANK3 288 broad.mit.edu 37 10 61833291 61833291 + Missense_Mutation SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr10:61833291C>T uc001jky.2 - 37 7540 c.7348G>A c.(7348-7350)GAC>AAC p.D2450N ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 2450 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 AACTCATCGTCATGGTATTCT 0.408 NA 18 128 0 0 0.012319 0 0 C10orf107 219621 broad.mit.edu 37 10 63450314 63450314 + Missense_Mutation SNP C C G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr10:63450314C>G uc010qik.1 + 4 528 c.223C>G c.(223-225)CAA>GAA p.Q75E NM_173554 NP_775825 Q8IVU9 CJ107_HUMAN hypothetical protein LOC219621 75 0 Prostate(12;0.016) CAGCTTATTTCAACACTACAA 0.308 NA 5 78 0 0 0.001168 0 0 CDH23 64072 broad.mit.edu 37 10 73434908 73434908 + Missense_Mutation SNP T T C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr10:73434908T>C uc001jrx.3 + 14 1866 c.1489T>C c.(1489-1491)TAC>CAC p.Y497H CDH23_uc001jry.2_Missense_Mutation_p.Y113H|CDH23_uc001jrz.2_Missense_Mutation_p.Y113H NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 497 Cadherin 5.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 GGAAGTCAGCTACTTCTTCAG 0.577 NA 6 39 0 0 0.006214 0 0 DLG5 9231 broad.mit.edu 37 10 79581303 79581303 + Missense_Mutation SNP T T G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr10:79581303T>G uc001jzk.2 - 15 3009 c.2939A>C c.(2938-2940)AAA>ACA p.K980T DLG5_uc001jzi.2_5'Flank|DLG5_uc001jzj.2_Intron|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.K584T NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 980 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CTGGGGGCGTTTGAAAGTGTT 0.567 NA 39 110 0 0 0.006999 0 0 ANXA11 311 broad.mit.edu 37 10 81930651 81930651 + Missense_Mutation SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr10:81930651C>A uc001kbq.1 - 5 901 c.76G>T c.(76-78)GCT>TCT p.A26S ANXA11_uc010qlx.1_Missense_Mutation_p.A126S|ANXA11_uc001kbr.1_Missense_Mutation_p.A26S|ANXA11_uc001kbs.1_Missense_Mutation_p.A26S|ANXA11_uc001kbt.1_Missense_Mutation_p.A26S|ANXA11_uc010qly.1_5'UTR|ANXA11_uc009xsq.1_Missense_Mutation_p.A26S|ANXA11_uc001kbu.1_Missense_Mutation_p.A26S NM_145869 NP_665876 P50995 ANX11_HUMAN annexin A11 26 cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding ovary(1) 1 Prostate(51;0.00985)|all_epithelial(25;0.0951) Colorectal(32;0.109) GGGTAGGCAGCACCTCCCCAG 0.632 NA 16 48 1.67942e-08 1.93367e-08 0.006122 1 0 C10orf12 26148 broad.mit.edu 37 10 98741603 98741603 + Silent SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr10:98741603G>A uc001kmv.2 + 1 563 c.456G>A c.(454-456)AGG>AGA p.R152R C10orf12_uc009xvg.1_Silent_p.R462R NM_015652 NP_056467 Q8N655 CJ012_HUMAN hypothetical protein LOC26148 152 skin(2) 2 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) CAGGGCTGAGGATAAATGATT 0.388 NA 7 77 0 0 0.00308 0 0 ARHGAP19 84986 broad.mit.edu 37 10 99024633 99024633 + Missense_Mutation SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr10:99024633G>A uc001knb.2 - 3 382 c.353C>T c.(352-354)ACG>ATG p.T118M ARHGAP19_uc001kmy.2_RNA|ARHGAP19_uc001kna.2_Missense_Mutation_p.T109M|ARHGAP19_uc009xvi.2_RNA|ARHGAP19_uc009xvj.2_Missense_Mutation_p.T118M|ARHGAP19_uc009xvk.2_Intron NM_032900 NP_116289 Q14CB8 RHG19_HUMAN Rho GTPase activating protein 19 118 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|nucleus GTPase activator activity 0 Colorectal(252;0.0854) Epithelial(162;7.65e-09)|all cancers(201;4.49e-07) GCCTTCCTCCGTCAGTGGGGA 0.343 NA 7 98 0 0 0.00308 0 0 BLOC1S2 282991 broad.mit.edu 37 10 102035226 102035226 + Missense_Mutation SNP T T A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr10:102035226T>A uc001kqw.1 - 5 445 c.422A>T c.(421-423)AAG>ATG p.K141M BLOC1S2_uc001kqv.1_Missense_Mutation_p.K98M NM_173809 NP_776170 Q6QNY1 BL1S2_HUMAN biogenesis of lysosome-related organelles 141 melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus gamma-tubulin binding|identical protein binding|protein C-terminus binding ovary(1) 1 Colorectal(252;0.117) Epithelial(162;2.44e-10)|all cancers(201;1.97e-08) TTCTCATCGCTTCTCCAGCTT 0.368 NA 45 136 0 0 0.01441 0 0 PRAP1 118471 broad.mit.edu 37 10 135163597 135163597 + Splice_Site SNP A A C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr10:135163597A>C uc001lmp.2 + 2 87 c.9_splice c.e2-2 p.R3_splice PRAP1_uc001lmr.2_Splice_Site_p.R3_splice|PRAP1_uc001lmq.1_5'Flank NM_145202 NP_660203 Q96NZ9 PRAP1_HUMAN proline-rich acidic protein 1 isoform 1 extracellular region 0 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) all cancers(32;7.08e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.88e-06)|Epithelial(32;9.48e-06) GCCCCCCCTCAGGCTCCTCCT 0.662 NA 3 24 0 0 0.00308 0 0 CHID1 66005 broad.mit.edu 37 11 903105 903105 + Missense_Mutation SNP A A T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr11:903105A>T uc001lsl.2 - 3 279 c.118T>A c.(118-120)TTT>ATT p.F40I CHID1_uc010qwu.1_Missense_Mutation_p.F70I|CHID1_uc010qwv.1_Missense_Mutation_p.F101I|CHID1_uc001lsn.2_Missense_Mutation_p.F65I|CHID1_uc001lsm.2_Missense_Mutation_p.F40I|CHID1_uc001lso.2_Missense_Mutation_p.F40I|CHID1_uc001lsp.2_Missense_Mutation_p.F40I|CHID1_uc010qww.1_Missense_Mutation_p.F40I NM_023947 NP_076436 Q9BWS9 CHID1_HUMAN chitinase domain containing 1 isoform a 40 chitin catabolic process|innate immune response extracellular region|lysosome cation binding|chitinase activity 0 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735) TTATCTGAAAACTGACTCTGA 0.537 Pancreas(117;992 2327 5172 41921) NA 13 29 0 0 0.004007 0 0 NLRP10 338322 broad.mit.edu 37 11 7981504 7981504 + Missense_Mutation SNP A A T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr11:7981504A>T uc001mfv.1 - 2 1672 c.1655T>A c.(1654-1656)ATG>AAG p.M552K NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 552 ATP binding lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CATAGATTCCATCTGTTCTTT 0.393 NA 20 59 0 0 0.010504 0 0 NAV2 89797 broad.mit.edu 37 11 20066788 20066788 + Silent SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr11:20066788C>A uc010rdm.1 + 15 3904 c.3543C>A c.(3541-3543)CTC>CTA p.L1181L NAV2_uc001mpp.2_Silent_p.L1094L|NAV2_uc001mpr.3_Silent_p.L1158L|NAV2_uc001mpt.2_Silent_p.L244L|NAV2_uc009yhx.2_Silent_p.L244L|NAV2_uc009yhy.1_Silent_p.L157L NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 1181 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 CATCTGCACTCGTCAGTCGGT 0.582 NA 30 63 1.36615e-20 1.81108e-20 0.013726 1 0 LRRC4C 57689 broad.mit.edu 37 11 40136618 40136618 + Missense_Mutation SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr11:40136618C>A uc001mxa.1 - 2 3189 c.1225G>T c.(1225-1227)GGT>TGT p.G409C LRRC4C_uc001mxc.1_Missense_Mutation_p.G405C|LRRC4C_uc001mxd.1_Missense_Mutation_p.G405C|LRRC4C_uc001mxb.1_Missense_Mutation_p.G405C NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 409 Ig-like C2-type. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) TTTAACGTACCATCACTGAGC 0.458 NA 73 180 8.41775e-28 1.15844e-27 0.01441 1 0 OR5W2 390148 broad.mit.edu 37 11 55681268 55681268 + Missense_Mutation SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr11:55681268G>A uc010rir.1 - 1 791 c.791C>T c.(790-792)TCT>TTT p.S264F NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 264 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AGAATAGGAAGAACTTGGCCG 0.448 Melanoma(48;171 1190 15239 43886 49348) NA 20 62 0 0 0.003954 0 0 OR8H2 390151 broad.mit.edu 37 11 55872945 55872945 + Missense_Mutation SNP G G C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr11:55872945G>C uc010riy.1 + 1 427 c.427G>C c.(427-429)GCT>CCT p.A143P NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 143 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) GCTCTGCCTCGCTCTCATCAC 0.453 NA HNSCC(53;0.14) 28 279 0 0 0.007291 0 0 OR8K5 219453 broad.mit.edu 37 11 55927085 55927085 + Missense_Mutation SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr11:55927085C>T uc010rja.1 - 1 709 c.709G>A c.(709-711)GCT>ACT p.A237T NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, 237 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) GTGGAGAAAGCCTTTTTCCTG 0.408 NA 7 56 0 0 0.001984 0 0 CPT1A 1374 broad.mit.edu 37 11 68566823 68566823 + Missense_Mutation SNP A A G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr11:68566823A>G uc001oog.3 - 6 726 c.556T>C c.(556-558)TAT>CAT p.Y186H CPT1A_uc001oof.3_Missense_Mutation_p.Y186H|CPT1A_uc009ysj.2_Missense_Mutation_p.Y186H NM_001876 NP_001867 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A liver isoform 186 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity skin(2) 2 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) GACTGTAGATACTGGGATTAT 0.408 NA 3 107 0 0 0.009096 0 0 SHANK2 22941 broad.mit.edu 37 11 70319292 70319293 + Missense_Mutation DNP TG TG AA TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr11:70319292_70319293TG>AA uc001oqc.2 - 22 5309_5310 c.5231_5232CA>TT c.(5230-5232)CCA>CTT p.P1744L SHANK2_uc010rqn.1_Missense_Mutation_p.P1156L|SHANK2_uc001opz.2_Missense_Mutation_p.P1149L|uc009ysn.1_Missense_Mutation_p.G65R|SHANK2_uc001opy.2_Missense_Mutation_p.P80L NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1365 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GGGGCTGGCTTGGAAGGCTAAA 0.579 NA 14 135 0 0 0.004672 0 0 HEPHL1 341208 broad.mit.edu 37 11 93844222 93844222 + Missense_Mutation SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr11:93844222C>T uc001pep.2 + 18 3356 c.3199C>T c.(3199-3201)CGT>TGT p.R1067C uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 1067 Extracellular (Potential).|Plastocyanin-like 6. copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CACGGTCCTTCGTAACATAGG 0.473 NA 3 15 0 0 0.009096 0 0 CCDC82 79780 broad.mit.edu 37 11 96117783 96117783 + Missense_Mutation SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr11:96117783C>A uc009ywp.2 - 1 372 c.129G>T c.(127-129)GAG>GAT p.E43D CCDC82_uc009ywq.2_Missense_Mutation_p.E43D|CCDC82_uc001pfx.3_Missense_Mutation_p.E43D|CCDC82_uc009ywr.2_Missense_Mutation_p.E43D|CCDC82_uc009yws.2_Missense_Mutation_p.E43D NM_024725 NP_079001 Q8N4S0 CCD82_HUMAN coiled-coil domain containing 82 43 protein binding ovary(1) 1 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.154) CACTATCAAGCTCTTCATCAC 0.368 NA 9 45 4.68919e-08 5.33534e-08 0.008291 1 0 CUL5 8065 broad.mit.edu 37 11 107904543 107904543 + Nonsense_Mutation SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr11:107904543C>T uc001pjv.2 + 2 707 c.40C>T c.(40-42)CAG>TAG p.Q14* CUL5_uc001pju.2_RNA NM_003478 NP_003469 Q93034 CUL5_HUMAN Vasopressin-activated calcium-mobilizing 14 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding ovary(1) 1 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) AGGTTCTCTTCAGTTTGAAGA 0.323 NA 7 55 0 0 0.006214 0 0 ATM 472 broad.mit.edu 37 11 108206578 108206578 + Missense_Mutation SNP G G C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr11:108206578G>C uc001pkb.1 + 56 8543 c.8158G>C c.(8158-8160)GAT>CAT p.D2720H ATM_uc009yxr.1_Missense_Mutation_p.D2720H|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.D1372H NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 2720 PI3K/PI4K. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GAAGGGCCGTGATGACCTGAG 0.373 NA D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 5 46 0 0 0.001984 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130332082 130332082 + Silent SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr11:130332082C>T uc010scd.1 + 3 1191 c.1191C>T c.(1189-1191)ATC>ATT p.I397I NM_139055 NP_620686 Q8TE58 ATS15_HUMAN a disintegrin-like and metalloprotease 397 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(2)|pancreas(1)|lung(1)|skin(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) TCATCCAGATCGACCGTGCCA 0.607 NA 16 83 0 0 0.00499 0 0 NTM 50863 broad.mit.edu 37 11 131240725 131240725 + Missense_Mutation SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr11:131240725G>A uc010sci.1 + 1 355 c.24G>A c.(22-24)ATG>ATA p.M8I NTM_uc001qgm.2_Missense_Mutation_p.M8I|NTM_uc010sch.1_5'UTR NM_001144058 NP_001137530 Q9P121 NTRI_HUMAN neurotrimin isoform 3 Error:Variant_position_missing_in_Q9P121_after_alignment cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 AGCCAAAAATGCACAATTCTA 0.313 NA 27 92 0 0 0.012213 0 0 PRMT8 56341 broad.mit.edu 37 12 3649868 3649868 + Missense_Mutation SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr12:3649868C>T uc001qmf.2 + 2 539 c.172C>T c.(172-174)CGG>TGG p.R58W PRMT8_uc009zed.2_Missense_Mutation_p.R49W|PRMT8_uc009zee.1_RNA NM_019854 NP_062828 Q9NR22 ANM8_HUMAN HMT1 hnRNP methyltransferase-like 4 58 SH3-binding 2. regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity ovary(3)|central_nervous_system(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CTGCCCAGGACGGGGCAAGAT 0.592 NA 205 367 0 0 0.01441 0 0 KLRD1 3824 broad.mit.edu 37 12 10462245 10462245 + Missense_Mutation SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr12:10462245G>A uc001qxw.3 + 4 318 c.121G>A c.(121-123)GAG>AAG p.E41K KLRD1_uc001qxx.3_Missense_Mutation_p.E41K|KLRD1_uc001qxy.3_Missense_Mutation_p.E10K|KLRD1_uc009zhh.2_Intron|KLRD1_uc009zhi.2_Missense_Mutation_p.E41K|KLRD1_uc001qxz.3_Missense_Mutation_p.E41K NM_001114396 NP_001107868 Q13241 KLRD1_HUMAN killer cell lectin-like receptor subfamily D, 41 Extracellular (Potential). cell surface receptor linked signaling pathway|regulation of immune response integral to membrane|plasma membrane sugar binding|transmembrane receptor activity 0 ACTGAGTATTGAGCCAGCATT 0.313 NA 21 41 0 0 0.00278 0 0 SYT10 341359 broad.mit.edu 37 12 33592339 33592339 + Missense_Mutation SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr12:33592339C>T uc001rll.1 - 1 416 c.119G>A c.(118-120)CGG>CAG p.R40Q SYT10_uc009zju.1_5'UTR NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN synaptotagmin X 40 Vesicular (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(1)|skin(1) 2 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) GCCCCTGTCCCGAGGGAAGAT 0.682 NA 10 181 0 0 0.006214 0 0 KRT6B 3854 broad.mit.edu 37 12 52842654 52842654 + Missense_Mutation SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr12:52842654C>A uc001sak.2 - 6 1223 c.1175G>T c.(1174-1176)AGA>ATA p.R392I NM_005555 NP_005546 P04259 K2C6B_HUMAN keratin 6B 392 Rod.|Coil 2. ectoderm development keratin filament structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.083) GATCTCAGATCTCAGCCTCTG 0.512 NA 34 150 7.04047e-22 9.46371e-22 0.005524 1 0 KRT2 3849 broad.mit.edu 37 12 53045393 53045393 + Missense_Mutation SNP C C G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr12:53045393C>G uc001sat.2 - 1 567 c.534G>C c.(532-534)GAG>GAC p.E178D NM_000423 NP_000414 P35908 K22E_HUMAN keratin 2 178 Coil 1A.|Rod. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.19) TCTGCTCACGCTCTTGGGCCT 0.517 NA 47 246 0 0 0.01441 0 0 ITGA7 3679 broad.mit.edu 37 12 56096921 56096921 + Missense_Mutation SNP T T A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr12:56096921T>A uc001shh.2 - 2 468 c.248A>T c.(247-249)CAG>CTG p.Q83L ITGA7_uc001shg.2_Missense_Mutation_p.Q83L|ITGA7_uc010sps.1_Intron|ITGA7_uc009znx.2_5'Flank NM_001144996 NP_001138468 Q13683 ITA7_HUMAN integrin alpha 7 isoform 1 precursor 83 FG-GAP 1.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 ATTCGCCTGCTGCCCAGGAAG 0.627 NA 69 62 0 0 0.01441 0 0 BAZ2A 11176 broad.mit.edu 37 12 56992465 56992465 + Silent SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr12:56992465G>A uc001slq.1 - 29 5849 c.5655C>T c.(5653-5655)ATC>ATT p.I1885I BAZ2A_uc001slp.1_Silent_p.I1883I|BAZ2A_uc001slo.1_Silent_p.I691I|BAZ2A_uc009zov.1_Silent_p.I851I|BAZ2A_uc009zow.1_Silent_p.I1853I NM_013449 NP_038477 Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 1885 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding 0 AGCGGCGCATGATGTGCCCAG 0.557 NA 7 45 0 0 0.00308 0 0 ACSS3 79611 broad.mit.edu 37 12 81593168 81593168 + Silent SNP G G C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr12:81593168G>C uc001szl.1 + 9 1390 c.1299G>C c.(1297-1299)CTG>CTC p.L433L ACSS3_uc001szm.1_Silent_p.L432L|ACSS3_uc001szn.1_Silent_p.L115L NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 433 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 TAGAGACCCTGGAATGGTCCA 0.358 NA 9 42 0 0 0.006214 0 0 KERA 11081 broad.mit.edu 37 12 91449755 91449755 + Missense_Mutation SNP G G C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr12:91449755G>C uc001tbl.2 - 2 923 c.304C>G c.(304-306)CTA>GTA p.L102V NM_007035 NP_008966 O60938 KERA_HUMAN keratocan precursor 102 LRR 2. response to stimulus|visual perception proteinaceous extracellular matrix skin(1) 1 TTCTTGTTTAGATTTATCCAT 0.368 NA 27 76 0 0 0.003954 0 0 ANKS1B 56899 broad.mit.edu 37 12 99640276 99640276 + Missense_Mutation SNP C C G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr12:99640276C>G uc001tge.1 - 13 2540 c.2123G>C c.(2122-2124)GGA>GCA p.G708A ANKS1B_uc001tgf.1_Missense_Mutation_p.G288A|ANKS1B_uc001tgk.2_Missense_Mutation_p.G5A|ANKS1B_uc009ztt.1_Missense_Mutation_p.G674A NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 708 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) CTCCACAAATCCCCCTGCGTT 0.453 NA 22 58 0 0 0.00333 0 0 SLC41A2 84102 broad.mit.edu 37 12 105199029 105199029 + Silent SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr12:105199029G>A uc001tla.2 - 10 1790 c.1623C>T c.(1621-1623)TAC>TAT p.Y541Y NM_032148 NP_115524 Q96JW4 S41A2_HUMAN solute carrier family 41, member 2 541 Extracellular. integral to membrane|plasma membrane magnesium ion transmembrane transporter activity ovary(1)|skin(1) 2 ATGCTGTTAGGTAGGGGATGG 0.453 Esophageal Squamous(195;176 2919 4272 35572) NA 172 200 0 0 0.01441 0 0 CMKLR1 1240 broad.mit.edu 37 12 108686093 108686093 + Missense_Mutation SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr12:108686093C>A uc009zuw.2 - 3 838 c.647G>T c.(646-648)CGG>CTG p.R216L CMKLR1_uc001tmw.2_Missense_Mutation_p.R216L|CMKLR1_uc001tmv.2_Missense_Mutation_p.R214L|CMKLR1_uc009zuv.2_Missense_Mutation_p.R216L NM_001142345 NP_001135817 Q99788 CML1_HUMAN chemokine-like receptor 1 isoform a 216 Extracellular (Potential). chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity lung(3)|ovary(1)|pancreas(1) 5 CACCATGTGCCGGCTATACCC 0.567 NA 37 33 1.47197e-15 1.90762e-15 0.007835 1 0 ISCU 23479 broad.mit.edu 37 12 108958090 108958090 + Silent SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr12:108958090G>T uc010sxc.1 + 2 255 c.150G>T c.(148-150)GGG>GGT p.G50G SART3_uc001tmz.1_5'Flank|SART3_uc009zux.1_5'Flank|SART3_uc010swx.1_5'Flank|SART3_uc010swz.1_5'Flank|SART3_uc001tna.1_5'Flank|SART3_uc001tnb.2_5'Flank|ISCU_uc010sxa.1_Silent_p.G50G|ISCU_uc010sxb.1_Silent_p.G50G|ISCU_uc001tnc.3_Silent_p.G25G|ISCU_uc009zuy.2_Silent_p.G25G|ISCU_uc010sxd.1_Silent_p.G50G NM_213595 NP_998760 Q9H1K1 ISCU_HUMAN iron-sulfur cluster assembly enzyme isoform 50 iron-sulfur cluster assembly|nitrogen fixation cytosol|mitochondrion|nucleus iron ion binding|iron-sulfur cluster binding|protein complex scaffold 0 GAAACGTGGGGTCCCTTGACA 0.403 NA 43 59 1.86633e-21 2.49709e-21 0.01441 1 0 CUX2 23316 broad.mit.edu 37 12 111772465 111772465 + Silent SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr12:111772465G>A uc001tsa.1 + 19 3300 c.3147G>A c.(3145-3147)ACG>ACA p.T1049T NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 1049 CUT 3. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 AGCTGGACACGTACTCCATCA 0.632 NA 17 59 0 0 0.006122 0 0 LRCH1 23143 broad.mit.edu 37 13 47279229 47279229 + Missense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr13:47279229G>T uc001vbj.2 + 12 1663 c.1427G>T c.(1426-1428)AGT>ATT p.S476I LRCH1_uc010acp.2_Missense_Mutation_p.S476I|LRCH1_uc001vbk.2_Missense_Mutation_p.S476I|LRCH1_uc001vbl.3_Missense_Mutation_p.S476I NM_015116 NP_055931 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) 476 ovary(1)|central_nervous_system(1) 2 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) ACAGAGAGAAGTGTTTTAAAC 0.284 NA 15 51 1.3612e-06 1.50148e-06 0.003163 1 0 THSD1 55901 broad.mit.edu 37 13 52952787 52952787 + Missense_Mutation SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr13:52952787C>T uc001vgo.2 - 5 1863 c.1318G>A c.(1318-1320)GGC>AGC p.G440S THSD1_uc001vgp.2_Missense_Mutation_p.G387S|THSD1_uc010tgz.1_Missense_Mutation_p.G61S|THSD1_uc010aea.2_5'UTR NM_018676 NP_061146 Q9NS62 THSD1_HUMAN thrombospondin type I domain-containing 1 440 Cytoplasmic (Potential). extracellular region|integral to membrane|intracellular membrane-bounded organelle ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) GCTGGCCGGCCGAACCTCCTC 0.557 NA 8 40 0 0 0.006214 0 0 LTB4R 1241 broad.mit.edu 37 14 24785095 24785095 + Missense_Mutation SNP C C G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr14:24785095C>G uc001wos.2 + 2 559 c.238C>G c.(238-240)CAA>GAA p.Q80E LTB4R_uc010alp.2_Missense_Mutation_p.Q80E|LTB4R_uc001wou.2_Missense_Mutation_p.Q80E NM_001143919 NP_001137391 Q15722 LT4R1_HUMAN leukotriene B4 receptor 80 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction integral to plasma membrane nucleotide binding 0 GBM - Glioblastoma multiforme(265;0.018) CTTCCTGGCCCAAGGCACCTG 0.587 NA 37 126 0 0 0.013114 0 0 FSCB 84075 broad.mit.edu 37 14 44976337 44976337 + Translation_Start_Site SNP A A T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr14:44976337A>T uc001wvn.2 - 1 163 c.-146T>A c.(-148--144)ACTTG>ACATG NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) AAACGTACCAAGTGTCAAAGA 0.348 NA 3 19 0 0 0.004672 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72176135 72176135 + Missense_Mutation SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr14:72176135C>T uc001xms.2 + 15 4373 c.4025C>T c.(4024-4026)TCG>TTG p.S1342L SIPA1L1_uc001xmt.2_Missense_Mutation_p.S1321L|SIPA1L1_uc001xmu.2_Missense_Mutation_p.S1321L|SIPA1L1_uc001xmv.2_Missense_Mutation_p.S1342L|SIPA1L1_uc010ttm.1_Missense_Mutation_p.S796L|SIPA1L1_uc001xmw.2_Missense_Mutation_p.S107L NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1342 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) AGCACAGCCTCGCTGGGGGCT 0.577 NA 3 9 0 0 0.001984 0 0 TMED10 10972 broad.mit.edu 37 14 75643092 75643092 + Missense_Mutation SNP G G A rs4929 TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr14:75643092G>A uc001xrm.1 - 1 258 c.191C>T c.(190-192)TCT>TTT p.S64F TMED10_uc010ash.1_RNA NM_006827 NP_006818 P49755 TMEDA_HUMAN transmembrane emp24 domain-containing protein 10 64 Lumenal (Potential).|GOLD. protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane protein binding 0 BRCA - Breast invasive adenocarcinoma(234;0.0126) AGCGCCCCCAGACTGGTCGGA 0.652 NA 20 76 0 0 0.00278 0 0 KIAA1409 57578 broad.mit.edu 37 14 94121688 94121688 + Missense_Mutation SNP T T A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr14:94121688T>A uc001ybv.1 + 37 6126 c.6043T>A c.(6043-6045)TGG>AGG p.W2015R KIAA1409_uc001ybs.1_Missense_Mutation_p.W1993R NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 2170 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) TAGTAGCCTCTGGACCACAAT 0.413 NA 44 172 0 0 0.01441 0 0 DIO3 1735 broad.mit.edu 37 14 102028628 102028628 + Missense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr14:102028628G>T uc010txq.1 + 2 941 c.717G>T c.(715-717)CAG>CAT p.Q239H DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank NM_001362 NP_001353 P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 239 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(303;0.185) ATGTCATCCAGAGTGGCACTA 0.617 NA 9 70 2.74318e-10 3.27595e-10 0.006214 1 0 WDR72 256764 broad.mit.edu 37 15 53889352 53889352 + Missense_Mutation SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr15:53889352C>T uc002acj.2 - 18 3114 c.3072G>A c.(3070-3072)ATG>ATA p.M1024I NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 1024 lung(1)|skin(1) 2 all cancers(107;0.0511) GCATCTGCTTCATCTCACAGT 0.418 NA 39 265 0 0 0.007835 0 0 NUBP2 10101 broad.mit.edu 37 16 1838029 1838029 + Missense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr16:1838029G>T uc002cmw.3 + 5 666 c.577G>T c.(577-579)GGC>TGC p.G193C NUBP2_uc002cmx.3_Missense_Mutation_p.G52C|NUBP2_uc010brx.2_Missense_Mutation_p.G133C NM_012225 NP_036357 Q9Y5Y2 NUBP2_HUMAN nucleotide binding protein 2 (MinD homolog, E. 193 microtubule organizing center|nucleus 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding 0 GAATATGAGCGGCTTCACCTG 0.677 NA 23 80 1.22574e-08 1.41695e-08 0.014323 1 0 TBL3 10607 broad.mit.edu 37 16 2025660 2025660 + Silent SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr16:2025660C>T uc002cnu.1 + 10 1038 c.936C>T c.(934-936)GCC>GCT p.A312A TBL3_uc002cnv.1_Silent_p.A198A|TBL3_uc010bsb.1_Silent_p.A101A|TBL3_uc010bsc.1_Silent_p.A198A|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank NM_006453 NP_006444 Q12788 TBL3_HUMAN transducin beta-like 3 312 WD 6. G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing nucleolus|small-subunit processome receptor signaling protein activity 0 CCGCCACCGCCGACCACAACC 0.697 Melanoma(118;616 1651 35077 38081 48633) NA 5 35 0 0 0.001984 0 0 ZNF263 10127 broad.mit.edu 37 16 3340426 3340426 + Missense_Mutation SNP C C G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr16:3340426C>G uc002cuq.2 + 6 2252 c.1920C>G c.(1918-1920)TTC>TTG p.F640L ZNF263_uc010uww.1_Missense_Mutation_p.F288L|ZNF263_uc002cur.2_Missense_Mutation_p.F288L NM_005741 NP_005732 O14978 ZN263_HUMAN zinc finger protein 263 640 C2H2-type 8. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(3)|ovary(1) 4 GAGACAGCTTCTCTCACAGCT 0.478 NA 15 125 0 0 0.004007 0 0 NDE1 54820 broad.mit.edu 37 16 15771720 15771720 + Silent SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr16:15771720C>T uc002ddt.1 + 3 343 c.300C>T c.(298-300)CTC>CTT p.L100L NDE1_uc010uzy.1_Silent_p.L100L|NDE1_uc002dds.2_Silent_p.L100L NM_017668 NP_060138 Q9NXR1 NDE1_HUMAN nuclear distribution gene E homolog 1 100 Interaction with PAFAH1B1 (By similarity).|Potential. cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome microtubule binding ovary(1) 1 AGGATGACCTCGCGCAGACCA 0.498 NA 24 72 0 0 0.014323 0 0 GP2 2813 broad.mit.edu 37 16 20331722 20331722 + Silent SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr16:20331722C>T uc002dgv.2 - 6 812 c.729G>A c.(727-729)CTG>CTA p.L243L GP2_uc002dgw.2_Silent_p.L240L|GP2_uc002dgx.2_Silent_p.L96L|GP2_uc002dgy.2_Silent_p.L93L NM_001007240 NP_001007241 P55259 GP2_HUMAN zymogen granule membrane glycoprotein 2 isoform 243 ZP. L -> Q (in Ref. 5; BAA07400). anchored to membrane|extracellular region|plasma membrane ovary(3)|skin(1) 4 CCAGGCCTCCCAGCAAACATT 0.547 NA 24 66 0 0 0.00333 0 0 FUS 2521 broad.mit.edu 37 16 31202719 31202719 + Splice_Site SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr16:31202719G>T uc002ebf.2 + 15 1625 c.1542_splice c.e15-1 p.R514_splice FUS_uc002ebh.2_Splice_Site_p.R513_splice|FUS_uc002ebg.2_Splice_Site_p.R309_splice|FUS_uc002ebi.2_Splice_Site_p.R515_splice|FUS_uc002ebj.2_Splice_Site_p.R310_splice NM_004960 NP_004951 P35637 FUS_HUMAN fusion (involved in t(12;16) in malignant cell death|nuclear mRNA splicing, via spliceosome nucleoplasm DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding FUS/DDIT3(623)|FUS/ERG(163)|FUS/CREB3L2(158)|FUS/CREB3L1(6)|FUS/ATF1(4)|FUS/FEV(2) soft_tissue(791)|haematopoietic_and_lymphoid_tissue(153)|bone(12)|breast(2) 958 Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121) GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209) tttttttGCAGGGGTGAGCAC 0.468 NA T DDIT3|ERG|FEV|ATF1|CREB3L2|CREB3L1 liposarcoma|AML|Ewing sarcoma|angiomatoid fibrous histiocytoma|fibromyxoid sarcoma 21 80 4.47668e-21 5.96203e-21 0.003954 1 0 NKD1 85407 broad.mit.edu 37 16 50664759 50664759 + Silent SNP A A C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr16:50664759A>C uc002egg.1 + 8 857 c.633A>C c.(631-633)CGA>CGC p.R211R NM_033119 NP_149110 Q969G9 NKD1_HUMAN naked cuticle homolog 1 211 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding 0 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) CAAGGCCCCGAGCAGAGACCA 0.647 NA 4 21 0 0 0.00308 0 0 ST3GAL2 6483 broad.mit.edu 37 16 70432107 70432107 + Missense_Mutation SNP C C G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr16:70432107C>G uc002eyw.2 - 1 2435 c.327G>C c.(325-327)CAG>CAC p.Q109H ST3GAL2_uc002eyx.2_Missense_Mutation_p.Q109H NM_006927 NP_008858 Q16842 SIA4B_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 109 Lumenal (Potential). amino sugar metabolic process extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity ovary(1) 1 Ovarian(137;0.0694) TCCACCACCTCTGGACGTCCG 0.592 NA 6 60 0 0 0.00308 0 0 PKD1L2 114780 broad.mit.edu 37 16 81181822 81181823 + Missense_Mutation DNP CC CC AA TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr16:81181822_81181823CC>AA uc002fgh.1 - 29 4893_4894 c.4893_4894GG>TT c.(4891-4896)TGGGAC>TGTTAC p.1631_1632WD>CY PKD1L2_uc002fgg.1_RNA NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 1631_1632 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 GACCCCCGGTCCCATTTTCCAG 0.594 NA 7 41 0 0 0.004672 0 0 RILP 83547 broad.mit.edu 37 17 1549747 1549747 + Missense_Mutation SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr17:1549747G>A uc002ftd.2 - 8 1489 c.1195C>T c.(1195-1197)CCA>TCA p.P399S SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc010cjv.1_5'Flank NM_031430 NP_113618 Q96NA2 RILP_HUMAN Rab interacting lysosomal protein 399 endosome to lysosome transport|protein transport late endosome membrane|lysosomal membrane|phagocytic vesicle membrane Rab GTPase binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CAGGCCTCTGGGGCGGCTGAG 0.637 NA 38 76 0 0 0.01441 0 0 GAS7 8522 broad.mit.edu 37 17 9850262 9850262 + Silent SNP C C G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr17:9850262C>G uc002gmg.1 - 6 725 c.564G>C c.(562-564)CCG>CCC p.P188P GAS7_uc010vvc.1_Silent_p.P2P|GAS7_uc002gmh.1_Silent_p.P48P|GAS7_uc010vvd.1_Silent_p.P140P|GAS7_uc002gmi.2_Silent_p.P124P|GAS7_uc002gmj.1_Silent_p.P128P|GAS7_uc010coh.1_Silent_p.P128P NM_201433 NP_958839 O60861 GAS7_HUMAN growth arrest-specific 7 isoform c 188 cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity lung(1)|pancreas(1) 2 GCTGCTGTTCCGGCATCGTGT 0.572 NA T MLL AML* 21 34 0 0 0.004656 0 0 DNAH9 1770 broad.mit.edu 37 17 11757475 11757475 + Silent SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr17:11757475C>T uc002gne.2 + 50 9731 c.9663C>T c.(9661-9663)TTC>TTT p.F3221F DNAH9_uc010coo.2_Silent_p.F2515F NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 3221 Stalk (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TGGATGGCTTCCTGGACTCGC 0.542 NA 25 70 0 0 0.005443 0 0 Unknown 0 broad.mit.edu 37 17 21730835 21730835 + Missense_Mutation SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr17:21730835C>A uc002gyy.3 + 2 262 c.137C>A c.(136-138)GCA>GAA p.A46E SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA; NA CTCATCTTTGCAGGCAAGCAG 0.517 NA 14 30 7.93312e-07 8.81797e-07 0.00245 1 0 PEX12 5193 broad.mit.edu 37 17 33904426 33904426 + Missense_Mutation SNP G G C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr17:33904426G>C uc002hjp.2 - 2 927 c.311C>G c.(310-312)GCT>GGT p.A104G NM_000286 NP_000277 O00623 PEX12_HUMAN peroxisomal biogenesis factor 12 104 Cytoplasmic (Potential). protein import into peroxisome matrix integral to peroxisomal membrane protein C-terminus binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ACCAGCACTAGCCAATCTCTG 0.438 NA 19 369 0 0 0.010504 0 0 Unknown 0 broad.mit.edu 37 17 37263807 37263807 + Missense_Mutation SNP A A G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr17:37263807A>G uc002hrf.1 + 3 362 c.331A>G c.(331-333)ACG>GCG p.T111A PLXDC1_uc002hrg.2_Intron|PLXDC1_uc002hrh.2_Intron|PLXDC1_uc002hri.2_Intron|PLXDC1_uc002hrj.1_Intron|PLXDC1_uc002hrk.1_Intron SubName: Full=cDNA FLJ42226 fis, clone THYMU2040824; NA ACCCGGCTGGACGGGAGATCA 0.577 NA 3 51 0 0 0.009096 0 0 CDK5RAP3 80279 broad.mit.edu 37 17 46054189 46054189 + Splice_Site SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr17:46054189G>A uc002imr.2 + 9 993 c.909_splice c.e9+1 p.K303_splice CDK5RAP3_uc010wlc.1_Splice_Site_p.K323_splice|CDK5RAP3_uc002imq.1_Splice_Site_p.K78_splice|CDK5RAP3_uc002imu.2_Splice_Site_p.K147_splice|CDK5RAP3_uc002ims.2_Splice_Site_p.K216_splice|CDK5RAP3_uc002imv.2_Splice_Site_p.K147_splice|CDK5RAP3_uc002imw.2_Splice_Site_p.K147_splice|CDK5RAP3_uc002imx.2_Splice_Site_p.K78_splice NM_176096 NP_788276 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding 0 AGATTCAAAGGTGAGGAGGCC 0.502 NA 4 63 0 0 0.009096 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47247054 47247054 + Silent SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr17:47247054C>T uc002ion.2 + 11 1724 c.1665C>T c.(1663-1665)CTC>CTT p.L555L B4GALNT2_uc010wlt.1_Silent_p.L469L|B4GALNT2_uc010wlu.1_Silent_p.L495L NM_153446 NP_703147 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 555 Lumenal (Potential). lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity large_intestine(1)|ovary(1) 2 all cancers(6;0.000316) AGCTGGCCCTCCACTACTTCA 0.532 GBM(124;244 1635 8663 18097 33175) NA 14 37 0 0 0.00499 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48603496 48603496 + Silent SNP T T C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr17:48603496T>C uc010wmr.1 + 14 2328 c.2166T>C c.(2164-2166)AGT>AGC p.S722S MYCBPAP_uc002iqz.2_RNA NM_032133 NP_115509 Q8TBZ2 MYBPP_HUMAN Myc-binding protein-associated protein 685 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding urinary_tract(2)|skin(2)|ovary(1)|pancreas(1) 6 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) GGACCAAGAGTCCTCAGCGGA 0.627 NA 42 144 0 0 0.009718 0 0 DGKE 8526 broad.mit.edu 37 17 54926178 54926178 + Missense_Mutation SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr17:54926178G>A uc002iur.2 + 6 1190 c.1010G>A c.(1009-1011)CGA>CAA p.R337Q DGKE_uc002ius.1_Missense_Mutation_p.R337Q NM_003647 NP_003638 P52429 DGKE_HUMAN diacylglycerol kinase epsilon 337 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(2) 2 Breast(9;3.59e-07) CAGGTTTTGCGAAATGTAATG 0.408 NA 9 195 0 0 0.006214 0 0 SCN4A 6329 broad.mit.edu 37 17 62029071 62029071 + Missense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr17:62029071G>T uc002jds.1 - 14 2643 c.2566C>A c.(2566-2568)CTC>ATC p.L856I NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 856 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) CCGAGGCTGAGCATGATGTCC 0.652 NA 4 10 2.0095e-06 2.20816e-06 0.001984 1 0 SDK2 54549 broad.mit.edu 37 17 71375670 71375670 + Missense_Mutation SNP C C T rs143525062 TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr17:71375670C>T uc010dfm.2 - 35 4781 c.4781G>A c.(4780-4782)CGG>CAG p.R1594Q SDK2_uc002jjt.3_Missense_Mutation_p.R734Q|SDK2_uc010dfn.2_Missense_Mutation_p.R1273Q NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 1594 Extracellular (Potential).|Fibronectin type-III 10. cell adhesion integral to membrane ovary(2) 2 TATCTCGTACCGCCTGTGCTT 0.657 NA 15 35 0 0 0.00499 0 0 SDK2 54549 broad.mit.edu 37 17 71429966 71429966 + Missense_Mutation SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr17:71429966C>T uc010dfm.2 - 10 1217 c.1217G>A c.(1216-1218)AGA>AAA p.R406K SDK2_uc010dfn.2_Missense_Mutation_p.R85K NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 406 Ig-like C2-type 5.|Extracellular (Potential). cell adhesion integral to membrane ovary(2) 2 CAGGGGGCCTCTGGTGATGTT 0.617 NA 4 21 0 0 0.009096 0 0 KIF19 124602 broad.mit.edu 37 17 72350682 72350682 + Missense_Mutation SNP A A T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr17:72350682A>T uc002jkm.3 + 18 2828 c.2690A>T c.(2689-2691)GAG>GTG p.E897V NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN kinesin family member 19 897 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 CGATCCTTCGAGGTCACCGGG 0.642 NA 3 11 0 0 0.009096 0 0 YES1 7525 broad.mit.edu 37 18 743353 743353 + Nonsense_Mutation SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr18:743353G>A uc002kky.2 - 7 1008 c.787C>T c.(787-789)CAA>TAA p.Q263* YES1_uc002kkz.2_Nonsense_Mutation_p.Q263* NM_005433 NP_005424 P07947 YES_HUMAN viral oncogene yes-1 homolog 1 263 blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation cytosol|plasma membrane ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity lung(2)|ovary(1) 3 Dasatinib(DB01254) GCTAGACCTTGAGTCTGAGGT 0.403 NA 31 89 0 0 0.012213 0 0 NOL4 8715 broad.mit.edu 37 18 31538324 31538324 + Missense_Mutation SNP C C G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr18:31538324C>G uc010dmi.2 - 7 1344 c.1115G>C c.(1114-1116)GGA>GCA p.G372A NOL4_uc010xbs.1_Missense_Mutation_p.G87A|NOL4_uc002kxr.3_Missense_Mutation_p.G208A|NOL4_uc010xbt.1_Missense_Mutation_p.G298A|NOL4_uc010dmh.2_Missense_Mutation_p.G298A|NOL4_uc010xbu.1_Missense_Mutation_p.G372A|NOL4_uc002kxt.3_Missense_Mutation_p.G372A|NOL4_uc010xbv.1_Missense_Mutation_p.G121A|NOL4_uc010xbw.1_Missense_Mutation_p.G258A NM_003787 NP_003778 O94818 NOL4_HUMAN nucleolar protein 4 372 nucleolus RNA binding ovary(3) 3 GTCCTCAGCTCCTCGGTCTAC 0.463 NA 56 219 0 0 0.01441 0 0 LIPG 9388 broad.mit.edu 37 18 47091826 47091826 + Missense_Mutation SNP C C G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr18:47091826C>G uc002ldv.2 + 2 489 c.237C>G c.(235-237)TTC>TTG p.F79L LIPG_uc002ldu.1_Missense_Mutation_p.F79L|LIPG_uc010xdh.1_Missense_Mutation_p.F79L NM_006033 NP_006024 Q9Y5X9 LIPE_HUMAN endothelial lipase precursor 79 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity ovary(1)|skin(1) 2 ACTGCAGTTTCAACATGACAG 0.507 Pancreas(126;280 1778 12814 26243 34948) NA 7 91 0 0 0.008291 0 0 SERPINB3 6317 broad.mit.edu 37 18 61323171 61323171 + Missense_Mutation SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr18:61323171G>A uc002lji.2 - 8 1037 c.893C>T c.(892-894)ACG>ATG p.T298M SERPINB4_uc002ljg.2_Intron|SERPINB3_uc010dqa.2_Missense_Mutation_p.T246M NM_006919 NP_008850 P29508 SPB3_HUMAN serine (or cysteine) proteinase inhibitor, clade 298 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(1)|central_nervous_system(1)|skin(1) 3 GGTTCTCAACGTGTCCTTGAG 0.488 NA 25 79 0 0 0.003954 0 0 STK11 6794 broad.mit.edu 37 19 1220434 1220434 + Missense_Mutation SNP A A C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr19:1220434A>C uc002lrl.1 + 4 1642 c.527A>C c.(526-528)GAC>GCC p.D176A NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 176 Protein kinase. Proton acceptor. D -> Y (in sporadic cancer; somatic mutation; Loss of kinase activity). anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.Y156fs*87(4)|p.?(4)|p.G52_P179del(1)|p.D176Y(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GTGCACAAGGACATCAAGCCG 0.657 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 4 14 0 0 0.000602 0 0 MUC16 94025 broad.mit.edu 37 19 9071203 9071203 + Missense_Mutation SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr19:9071203C>T uc002mkp.2 - 3 16447 c.16243G>A c.(16243-16245)GCC>ACC p.A5415T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5417 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGATGCATGGCGGCTTCTGTG 0.498 NA 181 389 0 0 0.01441 0 0 KEAP1 9817 broad.mit.edu 37 19 10600447 10600447 + Missense_Mutation SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr19:10600447G>A uc002moq.1 - 4 1564 c.1408C>T c.(1408-1410)CGT>TGT p.R470C KEAP1_uc002mop.1_Missense_Mutation_p.R188C|KEAP1_uc002mor.1_Missense_Mutation_p.R470C NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 470 Kelch 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) TAAAGGAGACGATTGAGGACA 0.557 NA 24 36 0 0 0.003954 0 0 B3GNT3 10331 broad.mit.edu 37 19 17922725 17922725 + Missense_Mutation SNP G G C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr19:17922725G>C uc002nhk.1 + 3 998 c.913G>C c.(913-915)GAG>CAG p.E305Q B3GNT3_uc002nhl.1_Missense_Mutation_p.E305Q|B3GNT3_uc010ebd.1_Missense_Mutation_p.E305Q|B3GNT3_uc010ebe.1_Missense_Mutation_p.E305Q NM_014256 NP_055071 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal 305 Lumenal (Potential). protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity upper_aerodigestive_tract(1) 1 TATGTGTCTGGAGCTTGAGGG 0.622 NA 37 174 0 0 0.003755 0 0 ZNF43 7594 broad.mit.edu 37 19 21990838 21990838 + Missense_Mutation SNP T T A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr19:21990838T>A uc002nqj.2 - 4 2131 c.2001A>T c.(1999-2001)AAA>AAT p.K667N ZNF43_uc010ecv.2_Missense_Mutation_p.K661N|ZNF43_uc002nql.2_Missense_Mutation_p.K661N|ZNF43_uc002nqm.2_Missense_Mutation_p.K661N|ZNF43_uc002nqk.2_Missense_Mutation_p.K597N NM_003423 NP_003414 P17038 ZNF43_HUMAN zinc finger protein 43 667 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) TTATCTTATGTTTAGTAAGGG 0.358 NA 19 45 0 0 0.008871 0 0 ZNF681 148213 broad.mit.edu 37 19 23927473 23927473 + Silent SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr19:23927473C>T uc002nrk.3 - 4 1021 c.879G>A c.(877-879)CAG>CAA p.Q293Q ZNF681_uc002nrl.3_Silent_p.Q224Q|ZNF681_uc002nrj.3_Silent_p.Q224Q NM_138286 NP_612143 Q96N22 ZN681_HUMAN zinc finger protein 681 293 C2H2-type 5; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) GGGTTAAGGACTGATTAAAGG 0.383 NA 26 61 0 0 0.010818 0 0 RYR1 6261 broad.mit.edu 37 19 39076591 39076591 + Missense_Mutation SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr19:39076591C>A uc002oit.2 + 103 14947 c.14817C>A c.(14815-14817)GAC>GAA p.D4939E RYR1_uc002oiu.2_Missense_Mutation_p.D4934E NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 4939 D -> E (in MHS1). muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGATCATCGACGCTTTTGGTG 0.587 NA 21 102 6.21321e-17 8.1619e-17 0.00278 1 0 PRKD2 25865 broad.mit.edu 37 19 47207494 47207494 + Missense_Mutation SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr19:47207494C>T uc002pfh.2 - 6 1163 c.821G>A c.(820-822)CGG>CAG p.R274Q PRKD2_uc002pfg.2_Missense_Mutation_p.R117Q|PRKD2_uc002pfi.2_Missense_Mutation_p.R274Q|PRKD2_uc002pfj.2_Missense_Mutation_p.R274Q|PRKD2_uc010xye.1_Missense_Mutation_p.R274Q|PRKD2_uc002pfk.2_Missense_Mutation_p.R117Q NM_001079881 NP_001073350 Q9BZL6 KPCD2_HUMAN protein kinase D2 isoform A 274 Phorbol-ester/DAG-type 2. cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1) 7 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) AACGGTGGGCCGTGTATAGCT 0.592 NA OREG0025578 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 72 0 0 0.004482 0 0 GRLF1 2909 broad.mit.edu 37 19 47422497 47422497 + Missense_Mutation SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr19:47422497G>A uc010ekv.2 + 1 565 c.565G>A c.(565-567)GCA>ACA p.A189T NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 189 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) CAATCAGCTTGCAAAAACAAA 0.418 NA 30 43 0 0 0.009535 0 0 HSD17B14 51171 broad.mit.edu 37 19 49316528 49316528 + Silent SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr19:49316528C>A uc002pkv.1 - 9 983 c.717G>T c.(715-717)ACG>ACT p.T239T BCAT2_uc002pkq.3_5'Flank|BCAT2_uc002pkr.2_5'Flank|BCAT2_uc002pks.2_5'Flank|BCAT2_uc002pkt.2_5'Flank|BCAT2_uc010emh.1_5'Flank|BCAT2_uc010emi.1_5'Flank|BCAT2_uc010emj.1_5'Flank|HSD17B14_uc010emk.1_Missense_Mutation_p.R207L NM_016246 NP_057330 Q9BPX1 DHB14_HUMAN dehydrogenase/reductase (SDR family) member 10 239 steroid catabolic process centrosome|cytosol estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity 0 all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346) GTTCAATGCCCGTGCAGAAGT 0.667 NA 4 7 2.56e-06 2.80242e-06 0.009096 1 0 MYADM 91663 broad.mit.edu 37 19 54377186 54377186 + Missense_Mutation SNP G G C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr19:54377186G>C uc002qcl.2 + 3 551 c.403G>C c.(403-405)GAC>CAC p.D135H MYADM_uc002qcm.2_Missense_Mutation_p.D135H|MYADM_uc002qcn.2_Missense_Mutation_p.D135H|MYADM_uc002qco.2_Missense_Mutation_p.D135H|MYADM_uc002qcp.2_Missense_Mutation_p.D135H NM_001020820 NP_001018656 Q96S97 MYADM_HUMAN myeloid-associated differentiation marker 135 MARVEL 1. integral to membrane ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.0488) CCGTTCGCGGGACCACGCCAT 0.662 NA 21 63 0 0 0.004656 0 0 LENG8 114823 broad.mit.edu 37 19 54963275 54963275 + Missense_Mutation SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr19:54963275C>T uc002qfv.1 + 3 188 c.44C>T c.(43-45)TCT>TTT p.S15F LENG8_uc002qfw.2_Missense_Mutation_p.S15F Q96PV6 LENG8_HUMAN RecName: Full=Leukocyte receptor cluster member 8; 15 protein binding central_nervous_system(1)|pancreas(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) TGCAGGTCTTCTCAGTACAGC 0.602 NA 20 57 0 0 0.00278 0 0 SNTG2 54221 broad.mit.edu 37 2 1093936 1093936 + Missense_Mutation SNP A A G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr2:1093936A>G uc002qwq.2 + 3 393 c.265A>G c.(265-267)AAG>GAG p.K89E SNTG2_uc002qwp.2_RNA|SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 89 PDZ. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CCTGAGTATAAAGGTATGGAA 0.388 NA 76 242 0 0 0.01441 0 0 ROCK2 9475 broad.mit.edu 37 2 11484135 11484135 + Missense_Mutation SNP A A T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr2:11484135A>T uc002rbd.1 - 1 577 c.128T>A c.(127-129)GTG>GAG p.V43E NM_004850 NP_004841 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein 43 axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity stomach(2)|skin(2) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) CAAGCTCTCCACGTTGATGGG 0.726 NA 13 23 0 0 0.004007 0 0 ETAA1 54465 broad.mit.edu 37 2 67632126 67632126 + Missense_Mutation SNP C C G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr2:67632126C>G uc002sdz.1 + 5 2451 c.2312C>G c.(2311-2313)CCA>CGA p.P771R NM_019002 NP_061875 Q9NY74 ETAA1_HUMAN ETAA16 protein 771 cytoplasm|nucleus ovary(3)|large_intestine(1) 4 TTGGTTCTTCCAGGAAGTTCA 0.318 NA 7 38 0 0 0.001984 0 0 DCTN1 1639 broad.mit.edu 37 2 74590188 74590189 + Missense_Mutation DNP CT CT AA TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr2:74590188_74590189CT>AA uc002skx.2 - 29 3772_3773 c.3461_3462AG>TT c.(3460-3462)CAG>CTT p.Q1154L SLC4A5_uc002skl.2_RNA|DCTN1_uc002skt.1_Missense_Mutation_p.Q88L|DCTN1_uc002skv.2_Missense_Mutation_p.Q1020L|DCTN1_uc002sku.2_Missense_Mutation_p.Q1015L|DCTN1_uc002skw.1_Missense_Mutation_p.Q1130L|DCTN1_uc010ffd.2_Missense_Mutation_p.Q1129L|DCTN1_uc002sky.2_Missense_Mutation_p.Q1112L NM_004082 NP_004073 Q14203 DCTN1_HUMAN dynactin 1 isoform 1 1154 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding ovary(3)|skin(2) 5 TCTCCAGCAGCTGGCTGGTCTT 0.54 NA 25 55 0 0 0.004672 0 0 SEMA4F 10505 broad.mit.edu 37 2 74903002 74903002 + Missense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr2:74903002G>T uc002sna.1 + 12 1720 c.1609G>T c.(1609-1611)GAT>TAT p.D537Y SEMA4F_uc010ffq.1_Missense_Mutation_p.D504Y|SEMA4F_uc010ffr.1_Missense_Mutation_p.D149Y|SEMA4F_uc002snb.1_Missense_Mutation_p.D149Y|SEMA4F_uc002snc.1_Missense_Mutation_p.D382Y NM_004263 NP_004254 O95754 SEM4F_HUMAN semaphorin W precursor 537 PSI.|Extracellular (Potential). cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity ovary(2)|pancreas(1)|skin(1) 4 CTTCCGGCTGGATGAGTGTGT 0.582 NA 28 73 1.08312e-15 1.41001e-15 0.009535 1 0 VWA3B 200403 broad.mit.edu 37 2 98851134 98851134 + Missense_Mutation SNP A A G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr2:98851134A>G uc002syo.2 + 17 2596 c.2332A>G c.(2332-2334)AGA>GGA p.R778G VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.R297G|VWA3B_uc002sym.2_Missense_Mutation_p.R778G|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.R435G|VWA3B_uc002syp.1_Missense_Mutation_p.R170G|VWA3B_uc002syq.1_Missense_Mutation_p.R54G|VWA3B_uc002syr.1_Missense_Mutation_p.R95G|VWA3B_uc010fih.1_5'Flank NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 778 ovary(3)|large_intestine(2)|skin(1) 6 CAGCCTGCTCAGAAGCCAGAT 0.473 NA 18 60 0 0 0.008871 0 0 SLC9A2 6549 broad.mit.edu 37 2 103281707 103281707 + Missense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr2:103281707G>T uc002tca.2 + 3 1044 c.902G>T c.(901-903)CGA>CTA p.R301L NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN solute carrier family 9 (sodium/hydrogen 301 Cytoplasmic (Potential). integral to membrane|plasma membrane sodium:hydrogen antiporter activity central_nervous_system(3)|skin(3)|breast(2) 8 TTTACTACTCGATTCACCCAT 0.448 NA 26 106 0.00395357 0.00412485 0.003954 1 0 CLASP1 23332 broad.mit.edu 37 2 122363412 122363412 + Silent SNP T T A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr2:122363412T>A uc002tnc.2 - 2 450 c.60A>T c.(58-60)CGA>CGT p.R20R CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Silent_p.R20R|CLASP1_uc010yza.1_Silent_p.R20R|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tng.1_Silent_p.R20R NM_015282 NP_056097 Q7Z460 CLAP1_HUMAN CLIP-associating protein 1 isoform 1 20 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding ovary(1)|central_nervous_system(1) 2 Renal(3;0.0496) CAACCTGCAATCGTTTCCCCA 0.493 NA 29 69 0 0 0.00632 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711649 155711649 + Missense_Mutation SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr2:155711649C>T uc002tyv.1 + 3 1525 c.1330C>T c.(1330-1332)CCG>TCG p.P444S KCNJ3_uc010zce.1_3'UTR NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 444 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) AAGTTCAGTTCCGGGCAACTC 0.423 NA 17 83 0 0 0.007413 0 0 TTN 7273 broad.mit.edu 37 2 179610711 179610711 + Silent SNP A A G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr2:179610711A>G uc002unb.2 - 46 16640 c.16416T>C c.(16414-16416)GAT>GAC p.D5472D TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) ATATTTCAGAATCTCCCATGG 0.393 NA 4 186 0 0 0.009096 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803192 185803192 + Silent SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr2:185803192C>A uc002uph.2 + 4 3663 c.3069C>A c.(3067-3069)ATC>ATA p.I1023I NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1023 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 CTGAGCAAATCCTGGCTCCAT 0.413 NA 46 146 8.72198e-27 1.19462e-26 0.01441 1 0 ORC2L 4999 broad.mit.edu 37 2 201785052 201785052 + Silent SNP A A C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr2:201785052A>C uc002uwr.2 - 15 1616 c.1359T>G c.(1357-1359)CCT>CCG p.P453P ORC2L_uc010zhj.1_Silent_p.P453P NM_006190 NP_006181 Q13416 ORC2_HUMAN origin recognition complex, subunit 2 453 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding 0 CTTCAGTATAAGGACTGTATG 0.413 NA 7 80 0 0 0.004482 0 0 CASP8 841 broad.mit.edu 37 2 202149749 202149749 + Missense_Mutation SNP C C G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr2:202149749C>G uc002uxr.1 + 9 1222 c.1013C>G c.(1012-1014)TCT>TGT p.S338C CASP8_uc002uxp.1_Missense_Mutation_p.S355C|CASP8_uc002uxq.1_Missense_Mutation_p.S323C|CASP8_uc002uxt.1_Missense_Mutation_p.S397C|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Missense_Mutation_p.S323C|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Missense_Mutation_p.S254C NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 338 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 GAGCTGACATCTCAGTTCACT 0.478 Melanoma(82;831 1348 20716 36952 40159) NA HNSCC(4;0.00038) 33 181 0 0 0.005524 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209212732 209212732 + Missense_Mutation SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr2:209212732G>A uc002vcz.2 + 35 5517 c.5359G>A c.(5359-5361)GGC>AGC p.G1787S NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 1787 PIPK. cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 CGAGAATCAAGGCGTTGAGCC 0.428 NA 12 107 0 0 0.00245 0 0 SLC23A3 151295 broad.mit.edu 37 2 220028231 220028231 + Missense_Mutation SNP G G C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr2:220028231G>C uc010zks.1 - 10 1431 c.1320C>G c.(1318-1320)TTC>TTG p.F440L NHEJ1_uc002vjp.3_5'Flank|NHEJ1_uc002vjq.3_Intron|SLC23A3_uc010zkr.1_Missense_Mutation_p.F448L|SLC23A3_uc010fwb.2_Missense_Mutation_p.F323L NM_001144889 NP_001138361 Q6PIS1 S23A3_HUMAN solute carrier family 23 (nucleobase 440 Helical; (Potential). transmembrane transport integral to membrane protein binding|transporter activity 0 Renal(207;0.0474) Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGAAGCTGGAGAATCCAGCAG 0.537 NA 32 224 0 0 0.004878 0 0 PTMA 5757 broad.mit.edu 37 2 232576109 232576109 + Missense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr2:232576109G>T uc002vsc.3 + 2 279 c.97G>T c.(97-99)GCC>TCC p.A33S PTMA_uc002vsb.3_Missense_Mutation_p.A33S|PTMA_uc010zmf.1_RNA|MIR1244_hsa-mir-1244-1|MI0006379_5'Flank NM_001099285 NP_001092755 P06454 PTMA_HUMAN prothymosin, alpha isoform 1 33 transcription, DNA-dependent nucleus 0 Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142) Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) TGGAAGAGACGCCCCTGCTAA 0.468 NA 27 97 7.38237e-10 8.70818e-10 0.00632 1 0 ALPP 250 broad.mit.edu 37 2 233245131 233245131 + Missense_Mutation SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr2:233245131G>A uc002vsq.2 + 7 959 c.794G>A c.(793-795)GGT>GAT p.G265D ALPP_uc002vsr.2_5'Flank NM_001632 NP_001623 P05187 PPB1_HUMAN placental alkaline phosphatase preproprotein 265 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) TCCCCACAGGGTGCCCGGTAT 0.672 NA 22 138 0 0 0.014323 0 0 ATRN 8455 broad.mit.edu 37 20 3529977 3529977 + Missense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr20:3529977G>T uc002wim.2 + 6 1194 c.1104G>T c.(1102-1104)ATG>ATT p.M368I ATRN_uc002wil.2_Missense_Mutation_p.M368I NM_139321 NP_647537 O75882 ATRN_HUMAN attractin isoform 1 368 Extracellular (Potential).|Kelch 1. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding ovary(1)|breast(1) 2 ATTATAACATGGTTCTAGCGT 0.274 NA 34 110 1.71298e-08 1.96449e-08 0.003755 1 0 ZNF133 7692 broad.mit.edu 37 20 18296557 18296557 + Silent SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr20:18296557C>T uc010gcq.2 + 5 1367 c.1062C>T c.(1060-1062)ATC>ATT p.I354I ZNF133_uc010zrv.1_Silent_p.I357I|ZNF133_uc010zrw.1_Silent_p.I291I|ZNF133_uc010gcr.2_Silent_p.I354I|ZNF133_uc010zrx.1_Silent_p.I259I|ZNF133_uc002wql.3_Silent_p.I353I|ZNF133_uc010gcs.2_Silent_p.I353I|ZNF133_uc010zry.1_Silent_p.I259I|ZNF133_uc002wqm.2_Silent_p.I354I NM_003434 NP_003425 P52736 ZN133_HUMAN zinc finger protein 133 354 C2H2-type 6. nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|pancreas(1) 2 AGAAGACCATCGTGTGCAGTG 0.582 NA 10 56 0 0 0.013537 0 0 CD93 22918 broad.mit.edu 37 20 23066668 23066668 + Missense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr20:23066668G>T uc002wsv.2 - 1 310 c.162C>A c.(160-162)AAC>AAA p.N54K NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN CD93 antigen precursor 54 Extracellular (Potential).|C-type lectin. cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding large_intestine(2) 2 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) CCCCGTTCTGGTTGCAGTGGT 0.692 NA 4 17 1.23904e-05 1.33613e-05 0.000602 1 0 NINL 22981 broad.mit.edu 37 20 25470571 25470571 + Silent SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr20:25470571C>T uc002wux.1 - 12 1610 c.1536G>A c.(1534-1536)TCG>TCA p.S512S NINL_uc010gdn.1_Silent_p.S512S|NINL_uc010gdo.1_Silent_p.S295S NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 512 Potential. G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 TCTCCGAATCCGAAAGCTTTT 0.577 NA 25 150 0 0 0.013726 0 0 C20orf117 140710 broad.mit.edu 37 20 35433300 35433300 + Silent SNP A A G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr20:35433300A>G uc002xgd.1 - 10 2538 c.2211T>C c.(2209-2211)AAT>AAC p.N737N C20orf117_uc002xge.1_RNA NM_199181 NP_954650 O94964 K0889_HUMAN hypothetical protein LOC140710 isoform 2 737 0 Myeloproliferative disorder(115;0.00874) TGATGTACTCATTGGGCTGCA 0.577 NA 8 49 0 0 0.006214 0 0 CSE1L 1434 broad.mit.edu 37 20 47682795 47682795 + Silent SNP T T C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr20:47682795T>C uc002xty.2 + 4 429 c.295T>C c.(295-297)TTG>CTG p.L99L CSE1L_uc010zyg.1_Intron|CSE1L_uc010ghx.2_Silent_p.L99L NM_001316 NP_001307 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like protein 99 Importin N-terminal. apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity large_intestine(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) CATAGTGCACTTGATGCTTAG 0.418 NA 7 93 0 0 0.010729 0 0 DDX27 55661 broad.mit.edu 37 20 47853035 47853035 + Missense_Mutation SNP A A G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr20:47853035A>G uc002xuh.2 + 14 1829 c.1768A>G c.(1768-1770)ATA>GTA p.I590V NM_017895 NP_060365 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 590 Helicase C-terminal. nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding kidney(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GAAGGCCAGGATACTTCCCCA 0.512 NA 10 73 0 0 0.008291 0 0 SALL4 57167 broad.mit.edu 37 20 50407847 50407847 + Missense_Mutation SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr20:50407847C>A uc002xwh.3 - 2 1276 c.1175G>T c.(1174-1176)GGG>GTG p.G392V SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 392 C2H2-type 1. transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GCTATCAGTCCCAAAAACCTT 0.562 NA 17 115 1.01871e-10 1.2267e-10 0.008871 1 0 SALL4 57167 broad.mit.edu 37 20 50408823 50408823 + Missense_Mutation SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr20:50408823G>A uc002xwh.3 - 2 300 c.199C>T c.(199-201)CGT>TGT p.R67C SALL4_uc010gii.2_Missense_Mutation_p.R67C|SALL4_uc002xwi.3_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 67 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TCCTCCCGACGAAGCCGCTTT 0.498 NA 17 62 0 0 0.010504 0 0 KRTAP19-3 337970 broad.mit.edu 37 21 31864110 31864110 + Missense_Mutation SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr21:31864110C>A uc002yog.1 - 1 166 c.166G>T c.(166-168)GGC>TGC p.G56C NM_181609 NP_853640 Q7Z4W3 KR193_HUMAN keratin associated protein 19-3 56 intermediate filament 0 AAGCCAGAGCCATATCCATAG 0.527 NA 53 139 3.41413e-29 4.78973e-29 0.01441 1 0 GAB4 128954 broad.mit.edu 37 22 17472980 17472980 + Silent SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr22:17472980G>T uc002zlw.2 - 2 369 c.261C>A c.(259-261)TCC>TCA p.S87S GAB4_uc010gqs.1_Silent_p.S87S NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 87 PH. large_intestine(1)|ovary(1) 2 all_epithelial(15;0.112)|Lung NSC(13;0.248) GGGGCTTCTTGGAGCCATCAT 0.502 NA 53 240 2.27459e-33 3.22234e-33 0.01441 1 0 RTDR1 27156 broad.mit.edu 37 22 23401887 23401887 + Missense_Mutation SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr22:23401887G>A uc002zwt.2 - 7 958 c.800C>T c.(799-801)GCG>GTG p.A267V NM_014433 NP_055248 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region protein 1 267 binding ovary(1) 1 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) CTCCAGGGCCGCATACTTCCC 0.632 NA 4 83 0 0 0.009096 0 0 PLA2G3 50487 broad.mit.edu 37 22 31536292 31536292 + Missense_Mutation SNP C C G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr22:31536292C>G uc003aka.2 - 1 178 c.49G>C c.(49-51)GCC>CCC p.A17P NM_015715 NP_056530 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III precursor 17 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity 0 CCCCCCAGGGCCACCCCCAGG 0.662 NA 13 70 0 0 0.00245 0 0 MYH9 4627 broad.mit.edu 37 22 36723529 36723529 + Silent SNP T T A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr22:36723529T>A uc003apg.2 - 4 726 c.495A>T c.(493-495)CGA>CGT p.R165R MYH9_uc003aph.1_Silent_p.R29R|MYH9_uc003api.1_Silent_p.R165R NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 165 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 ATTGATCTTCTCGGTCTGAAA 0.498 NA T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 9 43 0 0 0.013537 0 0 KCNH8 131096 broad.mit.edu 37 3 19436596 19436596 + Missense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr3:19436596G>T uc003cbk.1 + 7 1165 c.970G>T c.(970-972)GTG>TTG p.V324L KCNH8_uc011awe.1_Missense_Mutation_p.V324L|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_5'UTR NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 324 Extracellular (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 CTTACCACAGGTGTCTCTCGT 0.438 NSCLC(124;1625 1765 8018 24930 42026) NA 44 82 2.13883e-14 2.74721e-14 0.01441 1 0 SCN10A 6336 broad.mit.edu 37 3 38830506 38830506 + Silent SNP C C G rs139793167 TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr3:38830506C>G uc003ciq.2 - 3 411 c.411G>C c.(409-411)ACG>ACC p.T137T NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 137 Helical; Name=S1 of repeat I; (Potential).|I. sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) AAATAGTGACCGTAATAAATA 0.398 NA 14 54 0 0 0.003163 0 0 TRAK1 22906 broad.mit.edu 37 3 42264897 42264897 + Missense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr3:42264897G>T uc003cky.2 + 16 2746 c.2530G>T c.(2530-2532)GTG>TTG p.V844L TRAK1_uc011azi.1_Missense_Mutation_p.V823L NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN OGT(O-Glc-NAc transferase)-interacting protein 844 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus ovary(1) 1 CCTCAACCTCGTGGACAAAGT 0.612 GBM(44;195 884 22595 31865 41850) NA 8 47 5.4927e-09 6.40077e-09 0.004482 1 0 TGM4 7047 broad.mit.edu 37 3 44945470 44945470 + Silent SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr3:44945470C>A uc003coc.3 + 9 1139 c.1066C>A c.(1066-1068)CGA>AGA p.R356R NM_003241 NP_003232 P49221 TGM4_HUMAN transglutaminase 4 (prostate) 356 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) GCCGCAGGAGCGAAGCCAGGG 0.632 NA 15 87 6.31663e-08 7.15884e-08 0.003163 1 0 SEMA3G 56920 broad.mit.edu 37 3 52470040 52470040 + Missense_Mutation SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr3:52470040C>A uc003dea.1 - 16 1928 c.1928G>T c.(1927-1929)CGC>CTC p.R643L NM_020163 NP_064548 Q9NS98 SEM3G_HUMAN semaphorin sem2 precursor 643 Ig-like C2-type. multicellular organismal development extracellular region|membrane receptor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) GCTAAGCCTGCGGAACAGCAG 0.637 NA 8 39 3.09899e-07 3.47134e-07 0.004482 1 0 OR5H15 403274 broad.mit.edu 37 3 97887972 97887972 + Silent SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr3:97887972G>T uc011bgu.1 + 1 429 c.429G>T c.(427-429)CGG>CGT p.R143R NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, 143 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TGTGCATCCGGCTATTAATCT 0.373 NA 21 69 4.22769e-11 5.15529e-11 0.00632 1 0 RG9MTD1 54931 broad.mit.edu 37 3 101283774 101283774 + Missense_Mutation SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr3:101283774C>T uc003duz.2 + 2 297 c.149C>T c.(148-150)CCT>CTT p.P50L NM_017819 NP_060289 Q7L0Y3 MRRP1_HUMAN RNA (guanine-9-) methyltransferase domain 50 tRNA processing mitochondrion methyltransferase activity|protein binding ovary(1) 1 GTTACTTATCCTAAAAATGAG 0.373 Colon(61;905 1056 3196 19548 40505) NA 66 207 0 0 0.01441 0 0 PCNP 57092 broad.mit.edu 37 3 101298713 101298713 + Missense_Mutation SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr3:101298713C>A uc003dva.2 + 2 162 c.144C>A c.(142-144)AGC>AGA p.S48R PCNP_uc003dvb.2_RNA|PCNP_uc003dvc.2_Intron|PCNP_uc003dvd.2_Missense_Mutation_p.S48R NM_020357 NP_065090 Q8WW12 PCNP_HUMAN PEST proteolytic signal containing nuclear 48 cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination nucleus protein binding 0 CCAGTCGCAGCGCTGAGAAGC 0.463 NA 29 69 9.39395e-14 1.19072e-13 0.00632 1 0 BOC 91653 broad.mit.edu 37 3 112991383 112991383 + Missense_Mutation SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr3:112991383C>A uc003dzx.2 + 7 1415 c.794C>A c.(793-795)GCC>GAC p.A265D BOC_uc003dzy.2_Missense_Mutation_p.A265D|BOC_uc003dzz.2_Missense_Mutation_p.A265D|BOC_uc003eab.2_5'UTR NM_033254 NP_150279 Q9BWV1 BOC_HUMAN brother of CDO precursor 265 Ig-like C2-type 3.|Extracellular (Potential). cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1) 6 Epithelial(53;0.227) GTCACCTGGGCCAAGGATGGG 0.607 NA 27 263 2.38352e-08 2.72268e-08 0.004289 1 0 KIAA2018 205717 broad.mit.edu 37 3 113389016 113389016 + Silent SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr3:113389016C>T uc003eam.2 - 5 522 c.111G>A c.(109-111)GGG>GGA p.G37G KIAA2018_uc003eal.2_5'UTR NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 37 Helix-loop-helix motif. regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 TTCTGTTTATCCCAGCATTAA 0.398 NA 18 62 0 0 0.010504 0 0 ACAD9 28976 broad.mit.edu 37 3 128623262 128623262 + Missense_Mutation SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr3:128623262G>A uc003ela.3 + 11 1265 c.1063G>A c.(1063-1065)GTC>ATC p.V355I ACAD9_uc010hsw.1_Missense_Mutation_p.V232I|ACAD9_uc011bks.1_Missense_Mutation_p.V232I|ACAD9_uc003elb.2_Missense_Mutation_p.V232I|ACAD9_uc003eld.1_RNA|ACAD9_uc003ele.2_Missense_Mutation_p.V7I NM_014049 NP_054768 Q9H845 ACAD9_HUMAN acyl-Coenzyme A dehydrogenase family, member 9 355 mitochondrion acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding ovary(2)|central_nervous_system(1) 3 GAAGGCTTACGTCATGGAGAG 0.493 NA 24 122 0 0 0.004656 0 0 CLDN18 51208 broad.mit.edu 37 3 137717893 137717893 + Silent SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr3:137717893C>A uc003ero.1 + 1 236 c.183C>A c.(181-183)ACC>ACA p.T61T NM_001002026 NP_001002026 P56856 CLD18_HUMAN claudin 18 isoform 2 61 Extracellular (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity upper_aerodigestive_tract(1)|ovary(1) 2 CTGGCTTCACCGAGTGCCGGG 0.602 NA 14 98 3.41278e-10 4.05882e-10 0.00499 1 0 ZBBX 79740 broad.mit.edu 37 3 167035342 167035342 + Missense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr3:167035342G>T uc003fep.2 - 13 1350 c.1027C>A c.(1027-1029)CCA>ACA p.P343T ZBBX_uc011bpc.1_Missense_Mutation_p.P343T|ZBBX_uc003feq.2_Missense_Mutation_p.P314T NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 343 intracellular zinc ion binding ovary(2) 2 TGTGGATGTGGGAACGTATCT 0.338 NA 14 107 0.00316338 0.00331238 0.003163 1 0 SPATA16 83893 broad.mit.edu 37 3 172642104 172642104 + Missense_Mutation SNP T T C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr3:172642104T>C uc003fin.3 - 8 1390 c.1232A>G c.(1231-1233)CAT>CGT p.H411R NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 411 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding ovary(2)|skin(1) 3 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) AGGTGTTTTATGCTCTAAAAA 0.328 NA 34 81 0 0 0.003271 0 0 EIF4A2 1974 broad.mit.edu 37 3 186504304 186504304 + Missense_Mutation SNP C C G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr3:186504304C>G uc003fqs.2 + 7 680 c.641C>G c.(640-642)TCT>TGT p.S214C EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Missense_Mutation_p.S215C|EIF4A2_uc003fqv.2_Missense_Mutation_p.S119C|EIF4A2_uc003fqw.2_Missense_Mutation_p.S119C|EIF4A2_uc011bsb.1_Missense_Mutation_p.S87C|MIR1248_hsa-mir-1248|MI0006383_5'Flank|SNORA81_uc010hyv.1_5'Flank|SNORA63_uc010hyw.1_5'Flank|SNORA4_uc010hyx.1_5'Flank NM_001967 NP_001958 Q14240 IF4A2_HUMAN eukaryotic translation initiation factor 4A2 214 Helicase ATP-binding. interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity ovary(2)|breast(2) 4 all_cancers(143;2.68e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.07e-20) GBM - Glioblastoma multiforme(93;0.0704) GTGTTGCTTTCTGCCACAATG 0.378 NA T BCL6 NHL 4 107 0 0 0.000602 0 0 QDPR 5860 broad.mit.edu 37 4 17506088 17506088 + Missense_Mutation SNP T T A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr4:17506088T>A uc003gpd.2 - 3 389 c.209A>T c.(208-210)GAG>GTG p.E70V QDPR_uc003gpe.2_Missense_Mutation_p.E39V|QDPR_uc003gpf.2_RNA NM_000320 NP_000311 P09417 DHPR_HUMAN quinoid dihydropteridine reductase 70 dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process cytosol 6,7-dihydropteridine reductase activity|binding|electron carrier activity ovary(1) 1 NADH(DB00157) CTTTCCAACCTCAGCAGTCAC 0.453 NA 31 56 0 0 0.012213 0 0 MUC7 4589 broad.mit.edu 37 4 71346522 71346522 + Nonsense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr4:71346522G>T uc011cat.1 + 4 349 c.61G>T c.(61-63)GAA>TAA p.E21* MUC7_uc011cau.1_Nonsense_Mutation_p.E21*|MUC7_uc003hfj.2_Nonsense_Mutation_p.E21* NM_001145006 NP_001138478 Q8TAX7 MUC7_HUMAN mucin 7, secreted precursor 21 extracellular region protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 Lung(101;0.211) gcagTTCAGTGAAGGTCGAGA 0.234 NA 34 154 4.34311e-12 5.41016e-12 0.003271 1 0 CENPE 1062 broad.mit.edu 37 4 104061004 104061004 + Missense_Mutation SNP T T C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr4:104061004T>C uc003hxb.1 - 38 6236 c.6146A>G c.(6145-6147)GAA>GGA p.E2049G CENPE_uc003hxc.1_Intron|CENPE_uc003hxd.1_Intron NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 2049 Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TTTGAGAGATTCTTTTATCCT 0.353 NA 22 57 0 0 0.003954 0 0 TET2 54790 broad.mit.edu 37 4 106156700 106156700 + Missense_Mutation SNP G G C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr4:106156700G>C uc003hxk.2 + 3 1987 c.1601G>C c.(1600-1602)AGA>ACA p.R534T TET2_uc011cez.1_Missense_Mutation_p.R555T|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.R534T|TET2_uc003hxi.1_Missense_Mutation_p.R534T NM_001127208 NP_001120680 Q6N021 TET2_HUMAN tet oncogene family member 2 isoform a 534 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen haematopoietic_and_lymphoid_tissue(732)|pancreas(1) 733 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) CAGTTGATGAGAAACAAAGAG 0.458 NA Mis N|F MDS 19 59 0 0 0.007413 0 0 NPNT 255743 broad.mit.edu 37 4 106863478 106863478 + Missense_Mutation SNP A A C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr4:106863478A>C uc003hya.2 + 8 983 c.778A>C c.(778-780)ATG>CTG p.M260L NPNT_uc011cfc.1_Missense_Mutation_p.M277L|NPNT_uc011cfd.1_Missense_Mutation_p.M290L|NPNT_uc011cfe.1_Missense_Mutation_p.M290L|NPNT_uc010ilt.1_Missense_Mutation_p.M260L|NPNT_uc011cff.1_Missense_Mutation_p.M260L|NPNT_uc010ilu.1_Missense_Mutation_p.M156L NM_001033047 NP_001028219 Q6UXI9 NPNT_HUMAN nephronectin precursor 260 cell differentiation membrane calcium ion binding skin(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) CCCAAAAGTTATGATTGAACC 0.353 NA 27 46 0 0 0.008361 0 0 CCT5 22948 broad.mit.edu 37 5 10256185 10256185 + Missense_Mutation SNP G G C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr5:10256185G>C uc003jeq.2 + 4 621 c.450G>C c.(448-450)AAG>AAC p.K150N CCT5_uc011cmq.1_Intron|CCT5_uc003jer.2_Missense_Mutation_p.K150N|CCT5_uc010its.2_Missense_Mutation_p.K150N|CCT5_uc011cmr.1_Missense_Mutation_p.K95N|CCT5_uc011cms.1_Missense_Mutation_p.K112N|CCT5_uc011cmt.1_Missense_Mutation_p.K57N NM_012073 NP_036205 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 150 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding ovary(2) 2 ACCTGGACAAGATCAGCGATA 0.488 NA 3 42 0 0 0.001168 0 0 CCT5 22948 broad.mit.edu 37 5 10258364 10258364 + Silent SNP G G C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr5:10258364G>C uc003jeq.2 + 5 843 c.672G>C c.(670-672)CTG>CTC p.L224L CCT5_uc011cmq.1_Silent_p.L71L|CCT5_uc003jer.2_Silent_p.L224L|CCT5_uc010its.2_Silent_p.L224L|CCT5_uc011cmr.1_Silent_p.L169L|CCT5_uc011cms.1_Silent_p.L186L|CCT5_uc011cmt.1_Silent_p.L131L NM_012073 NP_036205 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 224 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding ovary(2) 2 ACACTAAACTGATTAAGGGCG 0.483 NA 4 67 0 0 0.009096 0 0 CCT5 22948 broad.mit.edu 37 5 10258515 10258515 + Missense_Mutation SNP G G C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr5:10258515G>C uc003jeq.2 + 6 912 c.741G>C c.(739-741)AAG>AAC p.K247N CCT5_uc011cmq.1_Missense_Mutation_p.K94N|CCT5_uc003jer.2_Missense_Mutation_p.K247N|CCT5_uc010its.2_Missense_Mutation_p.K247N|CCT5_uc011cmr.1_Missense_Mutation_p.K192N|CCT5_uc011cms.1_Missense_Mutation_p.K209N|CCT5_uc011cmt.1_Missense_Mutation_p.K154N NM_012073 NP_036205 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 247 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding ovary(2) 2 AAGATGCGAAGATTGCAATTC 0.408 NA 22 156 0 0 0.004656 0 0 CCT5 22948 broad.mit.edu 37 5 10258621 10258621 + Nonsense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr5:10258621G>T uc003jeq.2 + 6 1018 c.847G>T c.(847-849)GAG>TAG p.E283* CCT5_uc011cmq.1_Nonsense_Mutation_p.E130*|CCT5_uc003jer.2_Nonsense_Mutation_p.E283*|CCT5_uc010its.2_Nonsense_Mutation_p.E283*|CCT5_uc011cmr.1_Nonsense_Mutation_p.E228*|CCT5_uc011cms.1_Nonsense_Mutation_p.E245*|CCT5_uc011cmt.1_Nonsense_Mutation_p.E190* NM_012073 NP_036205 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 283 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding ovary(2) 2 ATACGAAAAGGAGAAATTTGA 0.373 NA 23 101 1.10513e-12 1.38862e-12 0.014323 1 0 CDH12 1010 broad.mit.edu 37 5 21752001 21752001 + Missense_Mutation SNP T T A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr5:21752001T>A uc010iuc.2 - 12 2688 c.2230A>T c.(2230-2232)AGT>TGT p.S744C CDH12_uc011cno.1_Missense_Mutation_p.S704C|CDH12_uc003jgk.2_Missense_Mutation_p.S744C|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 744 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 ACGGACCCACTCCCTTCGTAG 0.507 NA HNSCC(59;0.17) 12 120 0 0 0.004007 0 0 ZFR 51663 broad.mit.edu 37 5 32379244 32379244 + Missense_Mutation SNP T T A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr5:32379244T>A uc003jhr.1 - 17 2892 c.2812A>T c.(2812-2814)ACT>TCT p.T938S ZFR_uc010ium.1_Missense_Mutation_p.T69S|ZFR_uc011cny.1_RNA NM_016107 NP_057191 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 938 DZF. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(35;0.19) TCAGACCAAGTTGGAACTCGC 0.403 NA 13 32 0 0 0.007413 0 0 ARL15 54622 broad.mit.edu 37 5 53409207 53409207 + Missense_Mutation SNP T T A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr5:53409207T>A uc003jpg.1 - 4 381 c.287A>T c.(286-288)TAC>TTC p.Y96F ARL15_uc010ivs.1_RNA NM_019087 NP_061960 Q9NXU5 ARL15_HUMAN ADP-ribosylation factor-like 15 96 GTP binding ovary(1) 1 Lung NSC(810;0.000779) TCCTTGGTAGTAGCGGCTCCA 0.408 NA 14 44 0 0 0.004007 0 0 RASGRF2 5924 broad.mit.edu 37 5 80388718 80388718 + Missense_Mutation SNP T T A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr5:80388718T>A uc003kha.1 + 10 1489 c.1489T>A c.(1489-1491)TTA>ATA p.L497I RASGRF2_uc011ctn.1_RNA NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 497 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) ACAATGCTTCTTATTTACAAA 0.393 NA 16 147 0 0 0.007413 0 0 LNPEP 4012 broad.mit.edu 37 5 96329658 96329658 + Missense_Mutation SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr5:96329658C>T uc003kmv.1 + 6 1904 c.1390C>T c.(1390-1392)CAT>TAT p.H464Y LNPEP_uc003kmw.1_Missense_Mutation_p.H450Y NM_005575 NP_005566 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase isoform 1 464 Extracellular (Potential). Zinc; catalytic (By similarity). cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) AATCATTGCTCATGAGCTGGC 0.448 NA 21 105 0 0 0.00333 0 0 APC 324 broad.mit.edu 37 5 112178162 112178162 + Nonsense_Mutation SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr5:112178162C>T uc010jby.2 + 16 7251 c.6871C>T c.(6871-6873)CAA>TAA p.Q2291* APC_uc011cvt.1_Nonsense_Mutation_p.Q2273*|APC_uc003kpz.3_Nonsense_Mutation_p.Q2291*|APC_uc003kpy.3_Nonsense_Mutation_p.Q2291*|APC_uc010jbz.2_Nonsense_Mutation_p.Q2008*|APC_uc010jca.2_Nonsense_Mutation_p.Q1591* NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 2291 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GCAGACATCCCAAATAGGTGG 0.488 NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115) 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 7 60 0 0 0.00308 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140307479 140307479 + Silent SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr5:140307479C>T uc003lih.2 + 1 1178 c.1002C>T c.(1000-1002)AAC>AAT p.N334N 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_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Silent_p.N334N NM_018898 NP_061721 Q9H158 PCDC1_HUMAN protocadherin alpha subfamily C, 1 isoform 1 334 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGACGTGAACGATCATGCCC 0.537 NA 33 217 0 0 0.003271 0 0 PCDHB13 56123 broad.mit.edu 37 5 140595778 140595778 + Missense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr5:140595778G>T uc003lja.1 + 1 2270 c.2083G>T c.(2083-2085)GCC>TCC p.A695S NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 695 Helical; (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTGGCGTTGGCCTCGGTGTC 0.687 NA 49 170 2.9001e-28 4.02947e-28 0.01441 1 0 PCDHGB4 8641 broad.mit.edu 37 5 140768714 140768714 + Silent SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr5:140768714G>A uc003lkc.1 + 1 1263 c.1263G>A c.(1261-1263)ACG>ACA p.T421T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.T421T NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 421 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|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) TAACCGTTACGGCAACAGATC 0.448 NA 20 135 0 0 0.014323 0 0 PCDHGA11 56105 broad.mit.edu 37 5 140802658 140802658 + Missense_Mutation SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr5:140802658G>A uc003lkq.1 + 1 2122 c.1864G>A c.(1864-1866)GAG>AAG p.E622K PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.E622K|PCDHGA11_uc003lkp.1_Missense_Mutation_p.E622K NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 622 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGGTGGGGGAGCACACGGG 0.667 NA 7 66 0 0 0.006214 0 0 FAM8A1 51439 broad.mit.edu 37 6 17600920 17600920 + Missense_Mutation SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr6:17600920G>A uc003ncc.2 + 1 403 c.280G>A c.(280-282)GAG>AAG p.E94K NM_016255 NP_057339 Q9UBU6 FA8A1_HUMAN family with sequence similarity 8, member A1 94 integral to membrane 0 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.143) all cancers(50;0.176)|Epithelial(50;0.204) GGCGGGCTGCGAGGCGCCCGA 0.731 NA 7 5 0 0 0.008291 0 0 SCAND3 114821 broad.mit.edu 37 6 28541412 28541412 + Missense_Mutation SNP C C A rs137872757 by1000genomes TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr6:28541412C>A uc003nlo.2 - 4 2872 c.2254G>T c.(2254-2256)GGT>TGT p.G752C NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 752 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 agtacttcaccatcaattaca 0 NA 7 26 0.000157383 0.000165999 0.00308 1 0 HSPA1L 3305 broad.mit.edu 37 6 31777944 31777944 + Missense_Mutation SNP C C G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr6:31777944C>G uc003nxh.2 - 2 1989 c.1806G>C c.(1804-1806)GAG>GAC p.E602D HSPA1L_uc010jte.2_Missense_Mutation_p.E602D NM_005527 NP_005518 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 602 response to unfolded protein ATP binding ovary(3)|pleura(1)|kidney(1)|skin(1) 6 TACACATCTGCTCCAATTCCT 0.478 NA 13 109 0 0 0.003163 0 0 ZNF318 24149 broad.mit.edu 37 6 43316154 43316154 + Missense_Mutation SNP C C G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr6:43316154C>G uc003oux.2 - 6 3058 c.2980G>C c.(2980-2982)GAC>CAC p.D994H ZNF318_uc003ouw.2_RNA NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 994 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TCTCTACTGTCACTTAAAGAC 0.438 NA 6 392 0 0 0.001984 0 0 CDC5L 988 broad.mit.edu 37 6 44371578 44371578 + Missense_Mutation SNP T T G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr6:44371578T>G uc003oxl.2 + 6 831 c.572T>G c.(571-573)CTT>CGT p.L191R NM_001253 NP_001244 Q99459 CDC5L_HUMAN CDC5-like 191 Potential. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding lung(3)|ovary(1)|kidney(1)|skin(1) 6 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AGAAGAGAACTTCGAGCAGCT 0.383 NA 14 65 0 0 0.00499 0 0 DST 667 broad.mit.edu 37 6 56462573 56462573 + Nonsense_Mutation SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr6:56462573G>A uc003pdf.2 - 41 5831 c.5803C>T c.(5803-5805)CAG>TAG p.Q1935* DST_uc003pcz.3_Nonsense_Mutation_p.Q1757*|DST_uc011dxj.1_Nonsense_Mutation_p.Q1786*|DST_uc011dxk.1_Nonsense_Mutation_p.Q1797*|DST_uc003pcy.3_Nonsense_Mutation_p.Q1431*|DST_uc010kaa.1_RNA NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 3843 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AGATTCTCCTGAGTGGTTCCA 0.383 NA 20 104 0 0 0.010504 0 0 C6orf167 253714 broad.mit.edu 37 6 97679434 97679434 + Missense_Mutation SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr6:97679434C>A uc003ppb.2 - 13 1663 c.1397G>T c.(1396-1398)TGT>TTT p.C466F C6orf167_uc011eaf.1_Missense_Mutation_p.C426F|C6orf167_uc010kcn.1_Missense_Mutation_p.C240F NM_198468 NP_940870 Q6ZRQ5 MMS22_HUMAN hypothetical protein LOC253714 466 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding 0 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198) BRCA - Breast invasive adenocarcinoma(108;0.0457) TTTATCGCAACAGCAAGTCTT 0.343 NA 8 66 5.16669e-11 6.27383e-11 0.010729 1 0 SOBP 55084 broad.mit.edu 37 6 107854781 107854782 + Missense_Mutation DNP GG GG CT TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr6:107854781_107854782GG>CT uc003prx.2 + 4 1044_1045 c.540_541GG>CT c.(538-543)GCGGCC>GCCTCC p.A181S SOBP_uc003prw.1_Missense_Mutation_p.A181S NM_018013 NP_060483 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog 181 metal ion binding ovary(1) 1 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) AGTGCTTTGCGGCCTGCCGACG 0.55 NA 23 134 0 0 0.004672 0 0 RADIL 55698 broad.mit.edu 37 7 4874839 4874839 + Missense_Mutation SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr7:4874839C>T uc003snj.1 - 4 988 c.815G>A c.(814-816)CGG>CAG p.R272Q RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_5'Flank|RADIL_uc011jwc.1_Missense_Mutation_p.R32Q|RADIL_uc011jwd.1_RNA NM_018059 NP_060529 Q96JH8 RADIL_HUMAN Rap GTPase interactor 272 cell adhesion|multicellular organismal development|signal transduction protein binding lung(2)|central_nervous_system(2)|pancreas(2)|breast(1) 7 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CACCGTGTGCCGGTCCCGGTT 0.652 NA 3 29 0 0 0.004672 0 0 ZDHHC4 55146 broad.mit.edu 37 7 6628266 6628266 + Missense_Mutation SNP C C G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr7:6628266C>G uc003sqi.2 + 9 1118 c.760C>G c.(760-762)CCA>GCA p.P254A ZDHHC4_uc003sql.2_Missense_Mutation_p.P254A|ZDHHC4_uc003sqh.2_Missense_Mutation_p.P254A|ZDHHC4_uc003sqj.2_Missense_Mutation_p.P254A|ZDHHC4_uc003sqk.2_Missense_Mutation_p.P254A|ZDHHC4_uc003sqm.2_Missense_Mutation_p.P254A|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank|C7orf26_uc003sqq.1_5'Flank NM_001134388 NP_001127860 Q9NPG8 ZDHC4_HUMAN zinc finger, DHHC-type containing 4 254 integral to membrane acyltransferase activity|zinc ion binding breast(1)|pancreas(1) 2 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) CCTGACTTTTCCACGGATTGT 0.537 NA 46 288 0 0 0.01441 0 0 TWISTNB 221830 broad.mit.edu 37 7 19738143 19738143 + Missense_Mutation SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr7:19738143C>A uc003sup.1 - 4 834 c.813G>T c.(811-813)TGG>TGT p.W271C NM_001002926 NP_001002926 Q3B726 RPA43_HUMAN TWIST neighbor 271 Lys-rich. microtubule cytoskeleton|nucleolus DNA-directed RNA polymerase activity ovary(1) 1 GCTCCTCCTCCCAGATGCCAT 0.473 NA 180 574 1.41964e-80 2.05138e-80 0.01441 1 0 NPC1L1 29881 broad.mit.edu 37 7 44553237 44553237 + Missense_Mutation SNP T T A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr7:44553237T>A uc003tlb.2 - 20 3945 c.3889A>T c.(3889-3891)AAC>TAC p.N1297Y NPC1L1_uc003tlc.2_Missense_Mutation_p.N1270Y|NPC1L1_uc011kbw.1_Missense_Mutation_p.N1224Y|NPC1L1_uc003tla.2_3'UTR NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 1297 Cytoplasmic (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) AGAGCCGGGTTAACGTCAGGC 0.607 NA 28 86 0 0 0.013726 0 0 KCTD7 154881 broad.mit.edu 37 7 66104162 66104162 + Silent SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr7:66104162C>T uc003tve.2 + 4 975 c.813C>T c.(811-813)CTC>CTT p.L271L RABGEF1_uc003tvf.2_Intron|KCTD7_uc003tvd.3_Silent_p.L271L NM_153033 NP_694578 Q96MP8 KCTD7_HUMAN potassium channel tetramerisation domain 271 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|central_nervous_system(1) 3 ACAAGCACCTCGTGAACCACT 0.587 NA 13 86 0 0 0.001855 0 0 CLIP2 7461 broad.mit.edu 37 7 73768246 73768246 + Missense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr7:73768246G>T uc003uam.2 + 4 1042 c.715G>T c.(715-717)GGG>TGG p.G239W CLIP2_uc003uan.2_Missense_Mutation_p.G239W NM_003388 NP_003379 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 239 CAP-Gly 2. microtubule associated complex skin(3) 3 GCGGTACGTGGGGGAGACAGA 0.647 NA 19 174 1.2644e-06 1.40005e-06 0.010504 1 0 PCLO 27445 broad.mit.edu 37 7 82387923 82387923 + Nonsense_Mutation SNP T T A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr7:82387923T>A uc003uhx.2 - 25 15686 c.15397A>T c.(15397-15399)AAA>TAA p.K5133* NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 5056 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 ACCAAAAGTTTGTGCCAGTTG 0.393 NA 28 187 0 0 0.010818 0 0 PCLO 27445 broad.mit.edu 37 7 82784916 82784916 + Silent SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr7:82784916C>A uc003uhx.2 - 2 1330 c.1041G>T c.(1039-1041)GGG>GGT p.G347G PCLO_uc003uhv.2_Silent_p.G347G NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 320 Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GTTTCACTGTCCCTGGTTGTT 0.587 NA 6 43 8.12818e-05 8.60456e-05 0.001984 1 0 DLX6 1750 broad.mit.edu 37 7 96637044 96637044 + Silent SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr7:96637044G>A uc003uom.2 + 3 447 c.447G>A c.(445-447)CTG>CTA p.L149L DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron NM_005222 NP_005213 P56179 DLX6_HUMAN distal-less homeobox 6 59 Homeobox. nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) ATTCCAGCCTGCAGCTCCAGG 0.468 NA 5 15 0 0 0.00308 0 0 C7orf58 79974 broad.mit.edu 37 7 120629802 120629802 + Missense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr7:120629802G>T uc003vjq.3 + 2 574 c.127G>T c.(127-129)GCC>TCC p.A43S C7orf58_uc003vjr.1_Missense_Mutation_p.A43S|C7orf58_uc003vjs.3_Missense_Mutation_p.A43S NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 43 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) GAAGCTCACAGCCGCTGCCCC 0.572 NA 14 134 2.32078e-09 2.71541e-09 0.003163 1 0 CCDC136 64753 broad.mit.edu 37 7 128454821 128454821 + Missense_Mutation SNP C C G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr7:128454821C>G uc003vnv.1 + 15 3260 c.2893C>G c.(2893-2895)CGC>GGC p.R965G CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.R781G|CCDC136_uc010llq.1_Missense_Mutation_p.R334G|CCDC136_uc003vny.1_Intron NM_022742 NP_073579 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 965 Potential. integral to membrane protein binding ovary(2) 2 GGAGGAGCTCCGCCAGCTCAG 0.547 NA 10 25 0 0 0.001855 0 0 EXOC4 60412 broad.mit.edu 37 7 132973716 132973716 + Missense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr7:132973716G>T uc003vrk.2 + 3 352 c.317G>T c.(316-318)TGC>TTC p.C106F EXOC4_uc011kpo.1_Missense_Mutation_p.C5F|EXOC4_uc003vri.2_Missense_Mutation_p.C106F|EXOC4_uc003vrj.2_Missense_Mutation_p.C106F NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a 106 Potential. vesicle docking involved in exocytosis exocyst protein N-terminus binding ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1) 9 Esophageal squamous(399;0.129) CTGCTGCACTGCAAACGGGAT 0.423 NA 9 70 3.09899e-07 3.47134e-07 0.004482 1 0 AKR1B1 231 broad.mit.edu 37 7 134132119 134132119 + Missense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr7:134132119G>T uc003vrp.1 - 8 830 c.756C>A c.(754-756)TTC>TTA p.F252L AKR1B1_uc003vrq.1_RNA NM_001628 NP_001619 P15121 ALDR_HUMAN aldo-keto reductase family 1, member B1 252 NADP. C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress cytosol|extracellular space|nucleus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding ovary(3) 3 NADH(DB00157)|Sulindac(DB00605) TCTGCATGGGGAACCGGATCA 0.373 NA 16 68 1.01871e-10 1.2267e-10 0.008871 1 0 CNTNAP2 26047 broad.mit.edu 37 7 147914548 147914548 + Missense_Mutation SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr7:147914548C>A uc003weu.1 + 19 3695 c.3179C>A c.(3178-3180)GCG>GAG p.A1060E NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 1060 Laminin G-like 4.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ACCACCAAGGCGCCCTGCATT 0.572 NA HNSCC(39;0.1) 46 133 2.51966e-14 3.22204e-14 0.01441 1 0 SLC4A2 6522 broad.mit.edu 37 7 150773267 150773267 + Missense_Mutation SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr7:150773267G>A uc003wit.3 + 22 3895 c.3639G>A c.(3637-3639)ATG>ATA p.M1213I SLC4A2_uc011kve.1_Missense_Mutation_p.M1204I|SLC4A2_uc003wiu.3_Missense_Mutation_p.M1199I|SLC4A2_uc003wiv.3_Missense_Mutation_p.M407I|uc011kvf.1_Missense_Mutation_p.H60Y NM_003040 NP_003031 P04920 B3A2_HUMAN solute carrier family 4, anion exchanger, member 1213 Membrane (anion exchange). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACCGAGAGATGAAATGTGTAA 0.617 NA 27 174 0 0 0.013726 0 0 EFCAB1 79645 broad.mit.edu 37 8 49647699 49647699 + Silent SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr8:49647699C>T uc003xqo.2 - 1 172 c.12G>A c.(10-12)AAG>AAA p.K4K EFCAB1_uc003xqn.3_RNA|EFCAB1_uc011ldj.1_Silent_p.K4K|EFCAB1_uc010lxx.2_RNA|EFCAB1_uc011ldk.1_RNA NM_024593 NP_078869 Q9HAE3 EFCB1_HUMAN EF-hand calcium binding domain 1 isoform a 4 calcium ion binding 0 all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464) TCTGCAGTTTCTTGCGGTTCA 0.622 NA 21 152 0 0 0.00333 0 0 ABRA 137735 broad.mit.edu 37 8 107773333 107773333 + Missense_Mutation SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr8:107773333C>T uc003ymm.3 - 2 1132 c.1078G>A c.(1078-1080)GTA>ATA p.V360I NM_139166 NP_631905 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 360 Interaction with actin (By similarity). positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) TCAAAGTCTACCAGTCCATGT 0.443 NA 47 242 0 0 0.013114 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110461710 110461710 + Missense_Mutation SNP A A G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr8:110461710A>G uc003yne.2 + 40 6273 c.6169A>G c.(6169-6171)AAT>GAT p.N2057D NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2057 Extracellular (Potential).|IPT/TIG 13. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AATTCCATCTAATAATGGTAA 0.299 NA HNSCC(38;0.096) 2 11 0 0 0.004672 0 0 OC90 729330 broad.mit.edu 37 8 133036873 133036873 + Missense_Mutation SNP T T C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr8:133036873T>C uc003ytg.2 - 13 1289 c.1289A>G c.(1288-1290)CAC>CGC p.H430R OC90_uc011lix.1_Missense_Mutation_p.H430R NM_001080399 NP_001073868 Q02509 OC90_HUMAN otoconin 90 446 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity ovary(2)|skin(1) 3 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) GGGCACAGGGTGCAGGCTGTC 0.647 NA 11 16 0 0 0.00245 0 0 PLEC 5339 broad.mit.edu 37 8 144992968 144992968 + Missense_Mutation SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr8:144992968C>T uc003zaf.1 - 32 11602 c.11432G>A c.(11431-11433)CGT>CAT p.R3811H PLEC_uc003zab.1_Missense_Mutation_p.R3674H|PLEC_uc003zac.1_Missense_Mutation_p.R3678H|PLEC_uc003zad.2_Missense_Mutation_p.R3674H|PLEC_uc003zae.1_Missense_Mutation_p.R3642H|PLEC_uc003zag.1_Missense_Mutation_p.R3652H|PLEC_uc003zah.2_Missense_Mutation_p.R3660H|PLEC_uc003zaj.2_Missense_Mutation_p.R3701H NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3811 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GAGAGCCTCACGGAGGCTCCT 0.652 NA 8 60 0 0 0.006214 0 0 SLC24A2 25769 broad.mit.edu 37 9 19786748 19786748 + Silent SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr9:19786748G>T uc003zoa.1 - 1 179 c.117C>A c.(115-117)GTC>GTA p.V39V SLC24A2_uc003zob.1_Silent_p.V39V NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN solute carrier family 24 39 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(3) 3 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) AAAGGCCTAAGACTCGAATTA 0.448 NA 26 98 7.41945e-09 8.61133e-09 0.005443 1 0 KIF24 347240 broad.mit.edu 37 9 34255858 34255858 + Silent SNP T T C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr9:34255858T>C uc003zua.3 - 11 3867 c.3747A>G c.(3745-3747)GAA>GAG p.E1249E KIF24_uc010mkb.2_Intron NM_194313 NP_919289 Q5T7B8 KIF24_HUMAN kinesin family member 24 1249 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0107) ATGTGACATTTTCACTGTTGC 0.547 NA OREG0019148 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 48 0 0 0.008871 0 0 GDA 9615 broad.mit.edu 37 9 74764526 74764526 + Silent SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr9:74764526C>T uc004aiq.2 + 1 234 c.51C>T c.(49-51)TTC>TTT p.F17F GDA_uc011lse.1_Intron|GDA_uc011lsf.1_5'UTR|GDA_uc004air.2_Silent_p.F17F|GDA_uc010mow.1_RNA|GDA_uc004ais.2_5'UTR NM_004293 NP_004284 Q9Y2T3 GUAD_HUMAN guanine deaminase 17 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) GAGGGACGTTCGTCCACTCCA 0.697 NA 13 25 0 0 0.007413 0 0 PCSK5 5125 broad.mit.edu 37 9 78506251 78506251 + Missense_Mutation SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr9:78506251C>T uc004ajz.2 + 1 692 c.154C>T c.(154-156)CGT>TGT p.R52C PCSK5_uc004ajy.2_Missense_Mutation_p.R52C|PCSK5_uc004aka.2_RNA NM_006200 NP_006191 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 52 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 GGAGGCCAACCGTATCGCCAG 0.637 NA 16 124 0 0 0.010504 0 0 PCSK5 5125 broad.mit.edu 37 9 78686660 78686660 + Missense_Mutation SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr9:78686660G>A uc004ajz.2 + 7 1278 c.740G>A c.(739-741)GGA>GAA p.G247E PCSK5_uc004ajy.2_Missense_Mutation_p.G247E|PCSK5_uc004aka.2_RNA NM_006200 NP_006191 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 247 Catalytic. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 ATGCTGGACGGAGATGTCACG 0.522 NA 39 213 0 0 0.006999 0 0 PCSK5 5125 broad.mit.edu 37 9 78749075 78749075 + Missense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr9:78749075G>T uc004ajz.2 + 10 1797 c.1259G>T c.(1258-1260)CGT>CTT p.R420L PCSK5_uc004ajy.2_Missense_Mutation_p.R420L|PCSK5_uc004aka.2_Intron NM_006200 NP_006191 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 420 Catalytic. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 AGGACTTCCCGTGCGGGACAT 0.403 NA 19 75 2.89027e-11 3.53935e-11 0.014323 1 0 SECISBP2 79048 broad.mit.edu 37 9 91943573 91943573 + Splice_Site SNP A A T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr9:91943573A>T uc004aqj.1 + 5 655 c.575_splice c.e5-2 p.D192_splice SECISBP2_uc010mqn.1_Splice_Site_p.D192_splice|SECISBP2_uc004aqi.1_Splice_Site_p.D119_splice|SECISBP2_uc011ltk.1_Splice_Site_p.D191_splice|SECISBP2_uc004aqk.1_Splice_Site_p.D119_splice|SECISBP2_uc010mqo.1_Splice_Site|SECISBP2_uc011ltl.1_Splice_Site_p.D124_splice NM_024077 NP_076982 Q96T21 SEBP2_HUMAN SECIS binding protein 2 translation nucleus mRNA 3'-UTR binding ovary(2)|skin(1) 3 TTGTAATTACAGATGGTTACC 0.343 NA 8 63 0 0 0.00308 0 0 GRIN3A 116443 broad.mit.edu 37 9 104499870 104499870 + Missense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr9:104499870G>T uc004bbp.1 - 1 993 c.392C>A c.(391-393)GCC>GAC p.A131D GRIN3A_uc004bbq.1_Missense_Mutation_p.A131D NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 131 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GTTGTCCACGGCAAATAGGAG 0.672 NA 4 45 8.12818e-05 8.60456e-05 0.001984 1 0 GLRA2 2742 broad.mit.edu 37 X 14748448 14748448 + Silent SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chrX:14748448G>A uc010nep.2 + 10 1532 c.1200G>A c.(1198-1200)CCG>CCA p.P400P GLRA2_uc010neq.2_Silent_p.P400P|GLRA2_uc004cwe.3_Silent_p.P400P|GLRA2_uc011mio.1_Silent_p.P311P|GLRA2_uc011mip.1_Silent_p.P378P NM_001118885 NP_001112357 P23416 GLRA2_HUMAN glycine receptor, alpha 2 isoform A 400 Cytoplasmic (Probable). neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(1)|lung(1) 2 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) TCCCACAACCGCCAAAAGATG 0.483 NA 5 130 0 0 0.001168 0 0 GRPR 2925 broad.mit.edu 37 X 16142311 16142311 + Missense_Mutation SNP A A G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chrX:16142311A>G uc004cxj.2 + 1 888 c.235A>G c.(235-237)ATT>GTT p.I79V NM_005314 NP_005305 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 79 Helical; Name=2; (Potential). cell proliferation integral to plasma membrane bombesin receptor activity ovary(3)|lung(1) 4 Hepatocellular(33;0.183) AAACCTGTTCATTTCCAGTCT 0.478 NA OREG0019682 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 208 0 0 0.012213 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27998579 27998579 + Missense_Mutation SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chrX:27998579C>A uc004dbx.1 - 1 988 c.873G>T c.(871-873)GAG>GAT p.E291D NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 291 WD 3. ovary(3)|skin(1) 4 CCAGAGCCAACTCGTGGGCAG 0.512 NA 13 70 4.93089e-13 6.22283e-13 0.00245 1 0 SSX3 10214 broad.mit.edu 37 X 48213500 48213500 + Missense_Mutation SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chrX:48213500G>T uc004djd.1 - 4 308 c.214C>A c.(214-216)CGT>AGT p.R72S SSX3_uc004dje.2_Missense_Mutation_p.R72S|SSX3_uc010nic.2_Missense_Mutation_p.R72S NM_021014 NP_066294 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 isoform a 72 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding 0 CGTTTATTACGCATGAAAGAT 0.398 Colon(37;227 826 19399 40970 48007) NA 12 177 6.81908e-15 8.79783e-15 0.00245 1 0 IGBP1 3476 broad.mit.edu 37 X 69366622 69366622 + Missense_Mutation SNP A A T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chrX:69366622A>T uc004dxv.2 + 3 1121 c.622A>T c.(622-624)ATT>TTT p.I208F IGBP1_uc004dxw.2_Missense_Mutation_p.I208F NM_001551 NP_001542 P78318 IGBP1_HUMAN immunoglobulin binding protein 1 208 B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction cytoplasm protein phosphatase type 2A regulator activity kidney(1)|pancreas(1) 2 CTTAGAAGAGATTGAGAGCAT 0.418 NSCLC(167;1189 1558 6576 8216 30387 37980 41450) NA 16 156 0 0 0.006122 0 0 DLG3 1741 broad.mit.edu 37 X 69720818 69720818 + Missense_Mutation SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chrX:69720818G>A uc004dyi.1 + 18 2654 c.2326G>A c.(2326-2328)GAA>AAA p.E776K DLG3_uc004dyj.1_Missense_Mutation_p.E471K|DLG3_uc011mpn.1_Missense_Mutation_p.E324K NM_021120 NP_066943 Q92796 DLG3_HUMAN synapse-associated protein 102 isoform a 776 Guanylate kinase-like. axon guidance|negative regulation of cell proliferation|synaptic transmission plasma membrane guanylate kinase activity large_intestine(1)|pancreas(1) 2 Renal(35;0.156) ACTGGAGCAGGAATTTGGAGA 0.448 NA 9 27 0 0 0.010729 0 0 MED12 9968 broad.mit.edu 37 X 70349021 70349021 + Missense_Mutation SNP A A G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chrX:70349021A>G uc004dyy.2 + 25 3732 c.3533A>G c.(3532-3534)CAC>CGC p.H1178R MED12_uc011mpq.1_Missense_Mutation_p.H1178R|MED12_uc004dyz.2_Missense_Mutation_p.H1178R|MED12_uc004dza.2_Missense_Mutation_p.H1025R|MED12_uc010nla.2_5'Flank NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 1178 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) ATCCTCCTTCACCTTTTCAAG 0.512 NA OREG0019857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 405 0 0 0.00499 0 0 GJB1 2705 broad.mit.edu 37 X 70443955 70443955 + Nonsense_Mutation SNP G G A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chrX:70443955G>A uc004dzf.3 + 2 493 c.398G>A c.(397-399)TGG>TAG p.W133* BCYRN1_uc011mpt.1_Intron|GJB1_uc004dzg.3_Nonsense_Mutation_p.W133* NM_001097642 NP_001091111 P08034 CXB1_HUMAN gap junction protein, beta 1, 32kDa 133 Helical; (Probable). W -> R (in CMTX1).|W -> C (in CMTX1; moderate). cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development connexon complex|endoplasmic reticulum membrane|integral to membrane gap junction channel activity p.W133*(1) breast(1) 1 Renal(35;0.156) ACACTGTGGTGGACCTATGTC 0.547 NA 9 97 0 0 0.004482 0 0 ABCB7 22 broad.mit.edu 37 X 74295224 74295224 + Silent SNP A A G TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chrX:74295224A>G uc004eca.2 - 6 853 c.828T>C c.(826-828)TTT>TTC p.F276F ABCB7_uc004ebz.2_Silent_p.F277F|ABCB7_uc011mqn.1_Silent_p.F250F|ABCB7_uc010nls.2_Silent_p.F237F|ABCB7_uc010nlt.2_Silent_p.F236F NM_004299 NP_004290 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B, member 7 276 ABC transmembrane type-1.|Helical; (Potential). LLPIMF -> PLPNHV (in Ref. 4; AAC39865). cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity ovary(1) 1 GCATCACTTCAAACATGATGG 0.363 NA 9 151 0 0 0.008291 0 0 UPRT 139596 broad.mit.edu 37 X 74494131 74494131 + Missense_Mutation SNP C C A TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chrX:74494131C>A uc004ecb.1 + 1 171 c.42C>A c.(40-42)CAC>CAA p.H14Q UPRT_uc010nlu.1_Missense_Mutation_p.H14Q|UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Missense_Mutation_p.H14Q|UPRT_uc004ece.1_5'Flank NM_145052 NP_659489 Q96BW1 UPP_HUMAN uracil phosphoribosyltransferase (FUR1) homolog 14 nucleoside metabolic process cytoplasm|nucleus 0 TGCCCTGTCACAACCAGCAAG 0.597 NA 104 29 2.90702e-44 4.15905e-44 0.01441 1 0 RPA4 29935 broad.mit.edu 37 X 96139803 96139803 + Missense_Mutation SNP A A T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chrX:96139803A>T uc004efv.3 + 1 792 c.494A>T c.(493-495)CAC>CTC p.H165L DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron NM_013347 NP_037479 Q13156 RFA4_HUMAN replication protein A4, 34kDa 165 DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair DNA replication factor A complex|nucleoplasm single-stranded DNA binding 0 GTCAATGCACACATGATGCTG 0.473 NA Other_identified_genes_with_known_or_suspected_DNA_repair_function 18 75 0 0 0.014323 0 0 MCTS1 28985 broad.mit.edu 37 X 119739399 119739399 + Missense_Mutation SNP T T C TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chrX:119739399T>C uc004esx.2 + 2 497 c.149T>C c.(148-150)GTC>GCC p.V50A MCTS1_uc011mub.1_Missense_Mutation_p.V51A NM_014060 NP_054779 Q9ULC4 MCTS1_HUMAN malignant T cell amplified sequence 1 isoform 1 50 cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm RNA binding 0 AAAGATCCTGTCAAAATAGTC 0.318 NA 21 89 0 0 0.014323 0 0 C1orf116 79098 broad.mit.edu 37 1 207196009 207196010 + Frame_Shift_Ins INS - - AC TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:207196009_207196010insAC uc001hfd.2 - 4 1358_1359 c.1099_1100insGT c.(1099-1101)TTAfs p.L367fs C1orf116_uc009xcb.1_Frame_Shift_Ins_p.L121fs NM_023938 NP_076427 Q9BW04 SARG_HUMAN specifically androgen-regulated protein isoform 367 cytoplasm|plasma membrane receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Prostate(682;0.19) GGGCTTACTTAAGTGGAGTCCA 0.416 NA 20 183 --- --- --- --- NA NA NA NA NA PSEN2 5664 broad.mit.edu 37 1 227071533 227071534 + Frame_Shift_Ins INS - - CA TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr1:227071533_227071534insCA uc009xeo.1 + 5 696_697 c.269_270insCA c.(268-270)ATGfs p.M90fs PSEN2_uc009xep.1_Frame_Shift_Ins_p.M90fs|PSEN2_uc001hqk.2_RNA NM_000447 NP_000438 P49810 PSN2_HUMAN presenilin 2 isoform 1 90 Helical; (Potential). amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc aspartic-type endopeptidase activity|protein binding lung(2) 2 Prostate(94;0.0771) CACGTGATCATGCTGTTTGTGC 0.584 NA 62 164 --- --- --- --- NA NA NA NA NA AKR1C1 1645 broad.mit.edu 37 10 5014908 5014909 + Frame_Shift_Ins INS - - T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr10:5014908_5014909insT uc001iho.2 + 12 1654_1655 c.813_814insT c.(811-816)AGCTACfs p.S271fs AKR1E2_uc001ihl.1_Intron|AKR1C2_uc010qan.1_Intron|AKR1C3_uc001ihr.2_Intron|AKR1C1_uc001ihq.2_Frame_Shift_Ins_p.S271fs NM_001353 NP_001344 Q04828 AK1C1_HUMAN aldo-keto reductase family 1, member C1 271_272 NADP (By similarity). bile acid and bile salt transport|bile acid metabolic process|cholesterol homeostasis|intestinal cholesterol absorption|protein homooligomerization|response to organophosphorus|xenobiotic metabolic process cytosol 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid binding|indanol dehydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity ovary(2) 2 NADH(DB00157) TGGCCAAGAGCTACAATGAGCA 0.584 Colon(130;2054 2316 13360 15380) NA 12 94 --- --- --- --- NA NA NA NA NA OTOP2 92736 broad.mit.edu 37 17 72920942 72920944 + In_Frame_Del DEL TGG TGG - TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 TGG TGG - - TGG TGG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr17:72920942_72920944delTGG uc010wrp.1 + 3 304_306 c.215_217delTGG c.(214-219)CTGGCA>CCA p.72_73LA>P USH1G_uc002jme.1_5'Flank|USH1G_uc010wro.1_5'Flank|OTOP2_uc002jmf.1_In_Frame_Del_p.72_73LA>P NM_178160 NP_835454 Q7RTS6 OTOP2_HUMAN otopetrin 2 72_73 Helical; (Potential). integral to membrane ovary(3)|large_intestine(1) 4 all_lung(278;0.172)|Lung NSC(278;0.207) ATGATGCTGCTGGCAACGCTCTG 0.665 NA 7 23 --- --- --- --- NA NA NA NA NA ZNF98 148198 broad.mit.edu 37 19 22575752 22575752 + Frame_Shift_Del DEL C C - TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr19:22575752delC uc002nqt.2 - 4 407 c.285delG c.(283-285)TGGfs p.W95fs NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN zinc finger protein 98 95 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) CCTGCTTTGGCCAAAGGTCTT 0.284 NA 6 12 --- --- --- --- NA NA NA NA NA TNS1 7145 broad.mit.edu 37 2 218682516 218682516 + Frame_Shift_Del DEL C C - TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr2:218682516delC uc002vgt.2 - 24 4625 c.4227delG c.(4225-4227)GGGfs p.G1409fs TNS1_uc002vgr.2_Frame_Shift_Del_p.G1396fs|TNS1_uc002vgs.2_Frame_Shift_Del_p.G1388fs|TNS1_uc010zjv.1_Frame_Shift_Del_p.G1388fs NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 1409 cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) AAGACACCTTCCCATTGATGG 0.622 NA 30 128 --- --- --- --- NA NA NA NA NA DDX31 64794 broad.mit.edu 37 9 135522364 135522364 + Frame_Shift_Del DEL G G - TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 562a09a1-b491-45c8-a87d-3c2471353c0d 0629ddb0-d7ba-441d-b3ed-c2822cde4332 g.chr9:135522364delG uc004cbq.1 - 12 1516 c.1364delC c.(1363-1365)CCAfs p.P455fs DDX31_uc010mzu.1_Frame_Shift_Del_p.P455fs|DDX31_uc004cbr.1_Frame_Shift_Del_p.P455fs NM_022779 NP_073616 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 455 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) TTTGTCCTTTGGGTTCAACTG 0.498 NA 41 110 --- --- --- --- NA NA NA NA NA