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 TAS1R3 83756 broad.mit.edu 37 1 1268372 1268372 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:1268372C>A uc010nyk.1 + 4 1347 c.1347C>A c.(1345-1347)AAC>AAA p.N449K NM_152228 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 precursor 449 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) GCAGCGGAAACGTGGACATGG 0.672 NA 55 37 4.96213e-28 6.8588e-28 0.00361 1 0 PRDM16 63976 broad.mit.edu 37 1 3319455 3319455 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:3319455G>T uc001akf.2 + 6 857 c.777G>T c.(775-777)GCG>GCT p.A259A PRDM16_uc001akc.2_Silent_p.A259A|PRDM16_uc001akd.2_Silent_p.A259A|PRDM16_uc001ake.2_Silent_p.A259A|PRDM16_uc009vlh.2_5'UTR NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 259 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) TGGGGGCTGCGCTCTACGAGG 0.642 NA T EVI1 MDS|AML 85 33 2.33499e-56 3.57545e-56 0.00361 1 0 KLHL21 9903 broad.mit.edu 37 1 6653499 6653499 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:6653499C>G uc001aoa.2 - 4 1772 c.1720G>C c.(1720-1722)GAG>CAG p.E574Q KLHL21_uc001anz.1_3'UTR|KLHL21_uc009vme.2_Missense_Mutation_p.E207Q NM_014851 NP_055666 Q9UJP4 KLH21_HUMAN kelch-like 21 574 anaphase|cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule central_nervous_system(1) 1 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644) CTGTCCAACTCGAAGCCACGC 0.687 NA 5 118 0 0 0.000602 0 0 VPS13D 55187 broad.mit.edu 37 1 12567033 12567033 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:12567033C>T uc001atv.2 + 69 13062 c.12921C>T c.(12919-12921)CTC>CTT p.L4307L VPS13D_uc001atw.2_Silent_p.L4282L|VPS13D_uc001atx.2_Silent_p.L3494L|VPS13D_uc009vnl.2_RNA|VPS13D_uc010obd.1_Silent_p.L305L|SNORA59B_uc001atz.1_5'Flank NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 4306 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) ACGATGACCTCTACCACTGCC 0.527 NA 9 197 0 0 0.004482 0 0 DHRS3 9249 broad.mit.edu 37 1 12638760 12638760 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:12638760C>G uc001auc.2 - 4 1151 c.684G>C c.(682-684)CAG>CAC p.Q228H DHRS3_uc001aub.2_Missense_Mutation_p.Q143H NM_004753 NP_004744 O75911 DHRS3_HUMAN dehydrogenase/reductase (SDR family) member 3 228 retinol metabolic process|visual perception integral to membrane electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding skin(1) 1 Ovarian(185;0.249) Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419) Vitamin A(DB00162) CTCTCATGCCCTGGAACATCT 0.612 NA 5 69 0 0 0.001168 0 0 CLCNKB 1188 broad.mit.edu 37 1 16375011 16375011 + Nonsense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:16375011C>T uc001axw.3 + 7 669 c.589C>T c.(589-591)CAA>TAA p.Q197* FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Nonsense_Mutation_p.Q197*|CLCNKB_uc001axy.3_5'Flank NM_000085 NP_000076 P51801 CLCKB_HUMAN chloride channel Kb isoform 1 197 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity skin(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CAAGAGCAAGCAAAACGAAAT 0.642 NA 27 81 0 0 0.003755 0 0 NBPF1 55672 broad.mit.edu 37 1 16907242 16907242 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:16907242G>A uc009vos.1 - 16 2477 c.1589C>T c.(1588-1590)CCA>CTA p.P530L NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Missense_Mutation_p.P259L NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 530 NBPF 2. cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GAGGCTACCTGGGAGAATGTT 0.418 NA 13 832 0 0 0.003163 0 0 CROCC 9696 broad.mit.edu 37 1 17295727 17295727 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:17295727G>T uc001azt.2 + 32 5262 c.5193G>T c.(5191-5193)CTG>CTT p.L1731L CROCC_uc001azu.2_Silent_p.L1034L|CROCC_uc001azv.2_Silent_p.L67L NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 1731 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) TGCGGGGCCTGACAGAGGCCC 0.657 NA 33 11 1.99505e-19 2.52278e-19 0.012213 1 0 PADI2 11240 broad.mit.edu 37 1 17402181 17402181 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:17402181C>T uc001baf.2 - 12 1530 c.1448G>A c.(1447-1449)GGC>GAC p.G483D PADI2_uc010ocm.1_Missense_Mutation_p.G367D NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 483 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1) 6 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) TACCTTTGTGCCGGGGATGGG 0.587 NA OREG0013145 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 199 0 0 0.001984 0 0 UBR4 23352 broad.mit.edu 37 1 19446747 19446747 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:19446747G>A uc001bbi.2 - 69 10241 c.10237C>T c.(10237-10239)CGT>TGT p.R3413C UBR4_uc001bbj.1_5'Flank NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3413 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) AGGAAACAACGCAGGAACTGG 0.547 NA 72 119 0 0 0.00361 0 0 KIF17 57576 broad.mit.edu 37 1 21039953 21039953 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:21039953C>T uc001bdr.3 - 3 592 c.474G>A c.(472-474)AAG>AAA p.K158K KIF17_uc001bds.3_Silent_p.K158K NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 158 Kinesin-motor. microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) CCACCTCCAGCTTCTGCTTGG 0.582 NA 25 14 0 0 0.00632 0 0 CELA3B 23436 broad.mit.edu 37 1 22310769 22310769 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:22310769C>T uc001bfk.2 + 6 702 c.587C>T c.(586-588)TCC>TTC p.S196F CELA3B_uc009vqf.2_Intron NM_007352 NP_031378 P08861 CEL3B_HUMAN elastase 3B, pancreatic preproprotein 196 Peptidase S1. cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 TGGTGGGGTTCCTCCGTGAAG 0.612 NA 53 121 0 0 0.00361 0 0 ZNF683 257101 broad.mit.edu 37 1 26688394 26688394 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:26688394C>T uc001bmg.1 - 7 1441 c.1323G>A c.(1321-1323)CTG>CTA p.L441L ZNF683_uc001bmh.1_Silent_p.L421L|ZNF683_uc009vsj.1_Silent_p.L421L NM_173574 NP_775845 Q8IZ20 ZN683_HUMAN zinc finger protein 683 441 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) GGTGCAGCTTCAGGTGGATGT 0.677 NA 7 111 0 0 0.00308 0 0 C1orf172 126695 broad.mit.edu 37 1 27278134 27278134 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:27278134C>T uc001bni.1 - 2 827 c.738G>A c.(736-738)AAG>AAA p.K246K NM_152365 NP_689578 Q8NAX2 CA172_HUMAN hypothetical protein LOC126695 246 large_intestine(1)|ovary(1) 2 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) GCTCTGTCAGCTTCTTGAAGA 0.522 NA 8 54 0 0 0.00308 0 0 FAM46B 115572 broad.mit.edu 37 1 27332471 27332471 + Silent SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:27332471C>G uc010ofj.1 - 2 1414 c.1242G>C c.(1240-1242)CTG>CTC p.L414L NM_052943 NP_443175 Q96A09 FA46B_HUMAN hypothetical protein LOC115572 414 central_nervous_system(1) 1 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419) AGGCGTGAGCCAGGAGAGGTT 0.662 NA 34 124 0 0 0.00623 0 0 C1orf94 84970 broad.mit.edu 37 1 34667797 34667797 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:34667797G>C uc001bxs.3 + 4 1212 c.813G>C c.(811-813)TGG>TGC p.W271C C1orf94_uc001bxt.2_Missense_Mutation_p.W461C NM_032884 NP_116273 Q6P1W5 CA094_HUMAN hypothetical protein LOC84970 isoform b 271 protein binding 0 Myeloproliferative disorder(586;0.0393) AGCCACTCTGGCTCAACCTGA 0.522 NA 38 87 0 0 0.00361 0 0 GJB5 2709 broad.mit.edu 37 1 35223715 35223715 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:35223715G>C uc001bxu.2 + 2 884 c.784G>C c.(784-786)GAC>CAC p.D262H GJB4_uc001bxv.1_5'Flank NM_005268 NP_005259 O95377 CXB5_HUMAN gap junction protein, beta 5, 31.1kDa 262 Cytoplasmic (Potential). cell communication|epidermis development connexon complex|integral to membrane ovary(1) 1 Myeloproliferative disorder(586;0.0393) TCTCTTACCAGACCGCCCCCG 0.567 NA 27 49 0 0 0.00632 0 0 YRDC 79693 broad.mit.edu 37 1 38272561 38272561 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:38272561G>A uc001cca.1 - 3 605 c.592C>T c.(592-594)CTC>TTC p.L198F C1orf122_uc001ccb.1_5'Flank NM_024640 NP_078916 Q86U90 YRDC_HUMAN ischemia/reperfusion inducible protein 198 YrdC-like. negative regulation of transport membrane|mitochondrion 0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TGGGAGCTGAGGTTGGCACTA 0.507 NA 6 126 0 0 0.001984 0 0 CDC20 991 broad.mit.edu 37 1 43825182 43825182 + Missense_Mutation SNP A A G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:43825182A>G uc001cix.2 + 3 304 c.203A>G c.(202-204)CAG>CGG p.Q68R CDC20_uc001ciy.2_Missense_Mutation_p.Q68R NM_001255 NP_001246 Q12834 CDC20_HUMAN cell division cycle 20 68 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm|spindle enzyme binding|protein C-terminus binding 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TCCAAGGTTCAGACCACTCCT 0.567 Esophageal Squamous(137;1154 1759 10362 10401 46925) NA 35 76 0 0 0.004289 0 0 KIAA0467 23334 broad.mit.edu 37 1 43914143 43914143 + Silent SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:43914143C>A uc001cjk.1 + 54 7722 c.7260C>A c.(7258-7260)ATC>ATA p.I2420I KIAA0467_uc001cjl.1_Silent_p.I408I NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 3319 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TTGGGGACATCGACCCCCAGC 0.627 NA 10 33 2.17888e-05 2.27887e-05 0.006214 1 0 PTPRF 5792 broad.mit.edu 37 1 44064417 44064417 + Nonsense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:44064417G>T uc001cjr.2 + 13 2486 c.2146G>T c.(2146-2148)GAG>TAG p.E716* PTPRF_uc001cjs.2_Nonsense_Mutation_p.E716*|PTPRF_uc001cju.2_Nonsense_Mutation_p.E287*|PTPRF_uc009vwt.2_Nonsense_Mutation_p.E287*|PTPRF_uc001cjv.2_Nonsense_Mutation_p.E185*|PTPRF_uc001cjw.2_5'UTR NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 716 Fibronectin type-III 5.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GCGGAAGGTGGAGGTGGAGCC 0.612 NA 63 61 3.06529e-49 4.61441e-49 0.00361 1 0 SCP2 6342 broad.mit.edu 37 1 53427299 53427299 + Missense_Mutation SNP A A G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:53427299A>G uc001cur.1 + 6 642 c.521A>G c.(520-522)TAT>TGT p.Y174C SCP2_uc001cus.1_RNA|SCP2_uc010ono.1_Missense_Mutation_p.Y93C|SCP2_uc010onp.1_Missense_Mutation_p.Y150C|SCP2_uc009vzi.1_Missense_Mutation_p.Y130C|SCP2_uc001cuq.1_Missense_Mutation_p.Y130C NM_002979 NP_002970 P22307 NLTP_HUMAN sterol carrier protein 2 isoform 1 proprotein 174 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport mitochondrion|nucleus|peroxisomal matrix propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding breast(1) 1 ATGGAAAAATATGGTATGTTA 0.373 NA 15 53 0 0 0.00245 0 0 DMRTB1 63948 broad.mit.edu 37 1 53930348 53930348 + Nonsense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:53930348C>A uc001cvq.1 + 3 844 c.789C>A c.(787-789)TAC>TAA p.Y263* NM_033067 NP_149056 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 263 Pro-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 CAAGCTACTACCTgccgccgc 0.537 NA 20 60 1.55795e-14 1.8574e-14 0.012319 1 0 C1orf177 163747 broad.mit.edu 37 1 55277833 55277833 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:55277833C>G uc001cyb.3 + 6 787 c.733C>G c.(733-735)CCA>GCA p.P245A C1orf177_uc001cya.3_Missense_Mutation_p.P245A NM_001110533 NP_001104003 Q3ZCV2 CA177_HUMAN hypothetical protein LOC163747 isoform 2 245 0 TCGGAGCAAGCCACTGCCTTA 0.572 NA 47 67 0 0 0.013114 0 0 C1orf168 199920 broad.mit.edu 37 1 57257879 57257879 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:57257879G>T uc001cym.3 - 2 1013 c.607C>A c.(607-609)CCC>ACC p.P203T C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Missense_Mutation_p.P203T NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN hypothetical protein LOC199920 203 ovary(3)|skin(2) 5 AATATTTTGGGGGCCACCACG 0.493 NA 79 138 1.09326e-46 1.63822e-46 0.00361 1 0 CACHD1 57685 broad.mit.edu 37 1 65143951 65143951 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:65143951G>T uc001dbo.1 + 23 3154 c.3049G>T c.(3049-3051)GTG>TTG p.V1017L CACHD1_uc001dbp.1_Missense_Mutation_p.V772L|CACHD1_uc001dbq.1_Missense_Mutation_p.V772L|CACHD1_uc010opa.1_Missense_Mutation_p.V261L NM_020925 NP_065976 Q5VU97 CAHD1_HUMAN cache domain containing 1 1068 Extracellular (Potential). calcium ion transport integral to membrane ovary(2) 2 CGGGGGGATTGTGGGAGCCAA 0.473 NA 18 70 4.75885e-15 5.75762e-15 0.00499 1 0 LEPR 3953 broad.mit.edu 37 1 66067536 66067536 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:66067536C>T uc001dci.2 + 10 1498 c.1296C>T c.(1294-1296)ATC>ATT p.I432I LEPR_uc001dcg.2_Silent_p.I432I|LEPR_uc001dch.2_Silent_p.I432I|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Silent_p.I432I|LEPR_uc001dck.2_Silent_p.I432I NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 432 Extracellular (Potential). energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) ATGTCAATATCAATATCTCAT 0.303 NA 21 46 0 0 0.008871 0 0 SGIP1 84251 broad.mit.edu 37 1 67206405 67206405 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:67206405G>C uc001dcr.2 + 23 2516 c.2299G>C c.(2299-2301)GGG>CGG p.G767R SGIP1_uc010opd.1_Missense_Mutation_p.G367R|SGIP1_uc001dcs.2_Missense_Mutation_p.G367R|SGIP1_uc001dct.2_Missense_Mutation_p.G369R|SGIP1_uc009wat.2_Missense_Mutation_p.G561R|SGIP1_uc001dcu.2_Missense_Mutation_p.G272R NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 767 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 AGAAAATGGAGGTAATGGAAT 0.313 NA 11 20 0 0 0.008291 0 0 LRRC7 57554 broad.mit.edu 37 1 70484492 70484492 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:70484492G>T uc001dep.2 + 13 1327 c.1297G>T c.(1297-1299)GGT>TGT p.G433C LRRC7_uc009wbg.2_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 433 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 GCAGCCTCGTGGTGATGAAGG 0.388 NA 24 38 1.55469e-16 1.90927e-16 0.00333 1 0 C1orf173 127254 broad.mit.edu 37 1 75037660 75037660 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:75037660G>T uc001dgg.2 - 14 3953 c.3734C>A c.(3733-3735)GCC>GAC p.A1245D NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1245 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 GTGATCTTTGGCTGCTAGCTC 0.617 NA 52 87 4.01344e-20 5.14813e-20 0.00361 1 0 ELTD1 64123 broad.mit.edu 37 1 79358874 79358874 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:79358874C>T uc001diq.3 - 13 1906 c.1750G>A c.(1750-1752)GTT>ATT p.V584I NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 584 Helical; Name=5; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) AAGAGATTAACCTGGAAAAAG 0.303 NA 13 23 0 0 0.001368 0 0 GBP5 115362 broad.mit.edu 37 1 89728468 89728468 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:89728468C>A uc001dnc.2 - 10 1900 c.1363G>T c.(1363-1365)GCT>TCT p.A455S GBP5_uc001dnd.2_Missense_Mutation_p.A455S|GBP5_uc001dne.1_Missense_Mutation_p.A455S NM_052942 NP_443174 Q96PP8 GBP5_HUMAN guanylate-binding protein 5 455 plasma membrane GTP binding|GTPase activity ovary(1) 1 all cancers(265;0.00784)|Epithelial(280;0.0286) ACTTCTTCAGCCTAGCAACCC 0.408 NA 10 60 0.000673444 0.00069398 0.008291 1 0 BRDT 676 broad.mit.edu 37 1 92430257 92430257 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:92430257C>T uc001dok.3 + 3 615 c.266C>T c.(265-267)GCG>GTG p.A89V BRDT_uc001dol.3_Missense_Mutation_p.A89V|BRDT_uc010osz.1_Missense_Mutation_p.A89V|BRDT_uc009wdf.2_Missense_Mutation_p.A16V|BRDT_uc010ota.1_Intron|BRDT_uc010otb.1_Intron|BRDT_uc001dom.3_Missense_Mutation_p.A89V NM_207189 NP_997072 Q58F21 BRDT_HUMAN testis-specific bromodomain protein 89 Bromo 1. A -> V (in a gastric adenocarcinoma sample; somatic mutation). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity p.A89V(1) stomach(2)|ovary(1)|lung(1) 4 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) AAATATTATGCGAAGGCTTCA 0.274 NA 24 45 0 0 0.00278 0 0 FNBP1L 54874 broad.mit.edu 37 1 94000394 94000394 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:94000394G>T uc001dpw.2 + 9 919 c.919G>T c.(919-921)GGG>TGG p.G307W FNBP1L_uc001dpv.2_Missense_Mutation_p.G307W|FNBP1L_uc010otk.1_Missense_Mutation_p.G127W NM_001024948 NP_001020119 Q5T0N5 FBP1L_HUMAN formin binding protein 1-like isoform 1 307 Induction of membrane tubulation (By similarity).|Interaction with CDC42. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane lipid binding 0 all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155) all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111) ACAGGAGAGTGGGAAGATGGA 0.403 NA 3 4 0.004672 0.00477431 0.004672 1 0 ABCA4 24 broad.mit.edu 37 1 94467521 94467521 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:94467521C>A uc001dqh.2 - 45 6279 c.6175G>T c.(6175-6177)GGC>TGC p.G2059C ABCA4_uc001dqi.1_Missense_Mutation_p.G178C NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 2059 ABC transporter 2.|Cytoplasmic. G -> A. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) ACAGTCAGGCCCAGGCTCTTA 0.552 NA 26 61 1.74197e-06 1.86776e-06 0.00632 1 0 RWDD3 25950 broad.mit.edu 37 1 95710108 95710108 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:95710108C>G uc009wdu.2 + 2 503 c.427C>G c.(427-429)CTT>GTT p.L143V RWDD3_uc001drd.3_3'UTR|RWDD3_uc010oty.1_Missense_Mutation_p.L128V|RWDD3_uc009wdt.2_Missense_Mutation_p.L143V|RWDD3_uc001drf.3_Missense_Mutation_p.L143V|RWDD3_uc001drh.3_Missense_Mutation_p.L128V|RWDD3_uc009wdv.2_Intron|RWDD3_uc001drg.3_RNA|RWDD3_uc001dri.3_Missense_Mutation_p.L143V NM_015485 NP_056300 Q9Y3V2 RWDD3_HUMAN RWD domain containing 3 isoform a 143 cytoplasm|nucleus protein binding ovary(1) 1 all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769) all cancers(265;0.112)|Epithelial(280;0.229) GTGGATAACTCTTTTGCATTT 0.423 NA 9 132 0 0 0.006214 0 0 LPPR4 9890 broad.mit.edu 37 1 99764620 99764620 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:99764620G>A uc001dse.2 + 4 674 c.568G>A c.(568-570)GCT>ACT p.A190T LPPR4_uc010oue.1_Missense_Mutation_p.A190T NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 190 Helical; (Potential). phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) ATGCTCTACAGCTCTCATTAC 0.368 NA 18 62 0 0 0.007413 0 0 DBT 1629 broad.mit.edu 37 1 100672042 100672042 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:100672042C>A uc001dta.2 - 9 1201 c.1168G>T c.(1168-1170)GAT>TAT p.D390Y DBT_uc010oug.1_Missense_Mutation_p.D209Y NM_001918 NP_001909 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase 390 branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding pancreas(1) 1 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) CCTGTAAGATCAGTGGTGCTG 0.393 NA 87 225 1.31969e-37 1.91599e-37 0.00361 1 0 VCAM1 7412 broad.mit.edu 37 1 101200239 101200241 + Missense_Mutation TNP CCA CCA AAT TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 CCA CCA - - CCA CCA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:101200239_101200241CCA>AAT uc001dti.2 + 8 2094_2096 c.1974_1976CCA>AAT c.(1972-1977)GCCCAG>GCAATG p.Q659M VCAM1_uc001dtj.2_Missense_Mutation_p.Q567M|VCAM1_uc010ouj.1_Missense_Mutation_p.Q597M NM_001078 NP_001069 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 isoform a 659 Ig-like C2-type 7.|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) TCCGAAAGGCCCAGTTGAAGGAT 0.394 NA 16 56 0 0 0.004672 0 0 COL11A1 1301 broad.mit.edu 37 1 103355016 103355016 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:103355016C>A uc001dul.2 - 59 4777 c.4459G>T c.(4459-4461)GAT>TAT p.D1487Y COL11A1_uc001duk.2_Missense_Mutation_p.D683Y|COL11A1_uc001dum.2_Missense_Mutation_p.D1499Y|COL11A1_uc001dun.2_Missense_Mutation_p.D1448Y|COL11A1_uc009weh.2_Missense_Mutation_p.D1371Y NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1487 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTCACCCCATCCCCTTTTGCT 0.368 NA 24 72 1.77063e-15 2.15823e-15 0.005443 1 0 GPR61 83873 broad.mit.edu 37 1 110086457 110086457 + Silent SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:110086457C>A uc001dxy.2 + 2 1496 c.813C>A c.(811-813)GCC>GCA p.A271A NM_031936 NP_114142 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 271 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(2) 2 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) GCTCGGGGGCCCCCCAGACCA 0.657 NA 57 101 2.47907e-22 3.25668e-22 0.00361 1 0 KCNA10 3744 broad.mit.edu 37 1 111061349 111061349 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:111061349C>T uc001dzt.1 - 1 449 c.61G>A c.(61-63)GAA>AAA p.E21K NM_005549 NP_005540 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related 21 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity ovary(3)|large_intestine(1) 4 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) TCTTGGATTTCATCTGAATTA 0.522 NA 4 55 0 0 0.009096 0 0 LINGO4 339398 broad.mit.edu 37 1 151774557 151774557 + Silent SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:151774557G>C uc001ezf.1 - 2 814 c.624C>G c.(622-624)GCC>GCG p.A208A NM_001004432 NP_001004432 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 208 Extracellular (Potential). integral to membrane large_intestine(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TAAGCCTTAGGGCCACTAGTG 0.642 NA 6 135 0 0 0.001168 0 0 RPTN 126638 broad.mit.edu 37 1 152129352 152129352 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:152129352G>T uc001ezs.1 - 3 288 c.223C>A c.(223-225)CTC>ATC p.L75I NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 75 S-100-like (By similarity).|EF-hand 2. proteinaceous extracellular matrix calcium ion binding 0 ACCAACAAGAGGTACTCATGA 0.458 NA 101 115 1.59803e-59 2.4585e-59 0.00361 1 0 FLG 2312 broad.mit.edu 37 1 152278877 152278877 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:152278877G>T uc001ezu.1 - 3 8521 c.8485C>A c.(8485-8487)CGT>AGT p.R2829S NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2829 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACTGCCCACGGGAGGCATCA 0.572 NA Ichthyosis 142 368 8.87325e-63 1.37592e-62 0.00361 1 0 SPRR2D 6703 broad.mit.edu 37 1 153012673 153012673 + Nonsense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:153012673G>T uc001fbb.2 - 2 210 c.150C>A c.(148-150)TGC>TGA p.C50* SPRR2D_uc009wnz.2_RNA NM_006945 NP_008876 P22532 SPR2D_HUMAN small proline-rich protein 2D 50 keratinization cornified envelope|cytoplasm 0 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ATTTCTGCTGGCACTGCTGAG 0.592 NA 181 277 8.87325e-63 1.37592e-62 0.00361 1 0 ATP8B2 57198 broad.mit.edu 37 1 154309845 154309845 + Missense_Mutation SNP A A G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:154309845A>G uc001fey.1 + 11 1105 c.916A>G c.(916-918)ATG>GTG p.M306V ATP8B2_uc001few.2_Missense_Mutation_p.M287V|ATP8B2_uc001fex.2_Missense_Mutation_p.M320V NM_001005855 NP_001005855 P98198 AT8B2_HUMAN ATPase, class I, type 8B, member 2 isoform b 306 Helical; (Potential). ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(1)|skin(1) 2 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CCTGGTTTGCATGGGGGTGAT 0.542 NA 92 152 0 0 0.00361 0 0 KCNN3 3782 broad.mit.edu 37 1 154744815 154744815 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:154744815G>A uc001ffp.2 - 3 1398 c.1084C>T c.(1084-1086)CGC>TGC p.R362C KCNN3_uc001ffo.2_Missense_Mutation_p.R57C|KCNN3_uc009wox.1_Missense_Mutation_p.R362C NM_002249 NP_002240 Q9UGI6 KCNN3_HUMAN small conductance calcium-activated potassium 367 integral to membrane calmodulin binding lung(1) 1 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) TACAGGATGCGCTCGTAGGTC 0.587 NA 5 53 0 0 0.000602 0 0 ASH1L 55870 broad.mit.edu 37 1 155451617 155451617 + Silent SNP T T G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:155451617T>G uc009wqq.2 - 3 1524 c.1044A>C c.(1042-1044)CCA>CCC p.P348P ASH1L_uc001fkt.2_Silent_p.P348P|ASH1L_uc009wqr.1_Silent_p.P348P NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 348 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) GCACTAAACCTGGAACAATAC 0.393 NA 134 184 0 0 0.00361 0 0 FCRL3 115352 broad.mit.edu 37 1 157665859 157665859 + Missense_Mutation SNP A A G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:157665859A>G uc001frb.2 - 7 1395 c.1103T>C c.(1102-1104)CTC>CCC p.L368P FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.L368P|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.L94P|FCRL3_uc001frc.1_Missense_Mutation_p.L368P NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 368 Ig-like C2-type 4.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) CCACGTGCTGAGGATGGGGCT 0.532 NA 11 94 0 0 0.001368 0 0 MNDA 4332 broad.mit.edu 37 1 158812024 158812024 + Silent SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:158812024C>A uc001fsz.1 + 2 281 c.81C>A c.(79-81)TCC>TCA p.S27S NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 27 DAPIN. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) CAATTAAGTCCTTACTGGCCT 0.338 NA 28 47 4.7796e-09 5.29866e-09 0.004656 1 0 ADAMTS4 9507 broad.mit.edu 37 1 161163875 161163875 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:161163875G>T uc001fyt.3 - 5 1826 c.1398C>A c.(1396-1398)CCC>CCA p.P466P NM_005099 NP_005090 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 466 Disintegrin. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding ovary(4)|central_nervous_system(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GGGCAGCACAGGGCGGCGGCA 0.652 NA 52 95 2.27459e-33 3.24469e-33 0.00361 1 0 NUF2 83540 broad.mit.edu 37 1 163315606 163315606 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:163315606G>C uc001gcq.1 + 11 1246 c.946G>C c.(946-948)GAG>CAG p.E316Q NUF2_uc001gcp.2_Missense_Mutation_p.E316Q|NUF2_uc001gcr.1_Missense_Mutation_p.E316Q|NUF2_uc009wvc.1_Intron NM_145697 NP_663735 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 316 Interaction with the N-terminus of NDC80.|Potential. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding ovary(3)|skin(1) 4 all_hematologic(923;0.101) TATCTTAAAGGAGGTTTGTAT 0.318 NA 13 47 0 0 0.001855 0 0 MAEL 84944 broad.mit.edu 37 1 166959053 166959053 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:166959053C>T uc001gdy.1 + 2 283 c.212C>T c.(211-213)CCC>CTC p.P71L MAEL_uc001gdz.1_Intron|MAEL_uc009wvf.1_5'Flank NM_032858 NP_116247 Q96JY0 MAEL_HUMAN maelstrom homolog 71 HMG box. cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding skin(1) 1 GACCCTGGGCCCTCAGAGAAG 0.398 NA 37 34 0 0 0.005524 0 0 BAT2L2 23215 broad.mit.edu 37 1 171491391 171491391 + Missense_Mutation SNP A A T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:171491391A>T uc010pmg.1 + 7 1086 c.820A>T c.(820-822)ACA>TCA p.T274S BAT2L2_uc001ghr.1_Missense_Mutation_p.T276S NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 274 protein C-terminus binding 0 TTTATCTGAAACAAACAAGTA 0.363 NA 7 93 0 0 0.004482 0 0 TNN 63923 broad.mit.edu 37 1 175046886 175046886 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:175046886G>T uc001gkl.1 + 2 445 c.332G>T c.(331-333)CGG>CTG p.R111L TNN_uc010pmx.1_Missense_Mutation_p.R111L NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 111 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CTCCTGGCCCGGGTGAAGAAG 0.577 NA 25 55 2.12542e-12 2.47965e-12 0.00632 1 0 TNN 63923 broad.mit.edu 37 1 175086186 175086186 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:175086186C>T uc001gkl.1 + 10 2344 c.2231C>T c.(2230-2232)TCT>TTT p.S744F NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 744 Fibronectin type-III 6. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CGCTACACCTCTGCCAAGGAC 0.632 NA 9 196 0 0 0.004482 0 0 PAPPA2 60676 broad.mit.edu 37 1 176526309 176526309 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:176526309G>T uc001gkz.2 + 2 2015 c.851G>T c.(850-852)CGG>CTG p.R284L PAPPA2_uc001gky.1_Missense_Mutation_p.R284L|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 284 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GAGATTCCCCGGGAGGCGTTC 0.572 NA 21 24 1.01871e-10 1.16628e-10 0.008871 1 0 RASAL2 9462 broad.mit.edu 37 1 178425883 178425883 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:178425883C>T uc001glr.2 + 11 1941 c.1816C>T c.(1816-1818)CCT>TCT p.P606S RASAL2_uc001glq.2_Missense_Mutation_p.P747S|RASAL2_uc009wxc.2_Missense_Mutation_p.P120S NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 606 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 GGGGCCTCTCCCTCGTGTTCT 0.448 NA 131 325 0 0 0.00361 0 0 MR1 3140 broad.mit.edu 37 1 181018349 181018349 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:181018349G>T uc001goq.1 + 2 234 c.229G>T c.(229-231)GCG>TCG p.A77S MR1_uc001gop.2_Missense_Mutation_p.A77S|MR1_uc001gor.1_Missense_Mutation_p.A77S|MR1_uc001gos.1_Missense_Mutation_p.A77S|MR1_uc010pns.1_Missense_Mutation_p.A77S NM_001531 NP_001522 Q95460 HMR1_HUMAN major histocompatibility complex, class 77 Extracellular (Potential).|Ligand-binding.|Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|immune response endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex MHC class I receptor activity skin(1) 1 AGAGAACCTCGCGCCTGATCA 0.562 Colon(174;1412 1962 45296 46549 47110) NA 32 44 8.88839e-20 1.12978e-19 0.010818 1 0 RNASEL 6041 broad.mit.edu 37 1 182545507 182545507 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:182545507C>T uc001gpj.1 - 5 2090 c.1923G>A c.(1921-1923)ATG>ATA p.M641I RNASEL_uc009wxz.1_Missense_Mutation_p.M641I NM_021133 NP_066956 Q05823 RN5A_HUMAN ribonuclease L 641 KEN. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding ovary(4)|stomach(1) 5 TCATTTTTTTCATAACACATT 0.299 NA Hereditary_Prostate_Cancer 11 37 0 0 0.008291 0 0 HMCN1 83872 broad.mit.edu 37 1 186120472 186120472 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:186120472C>T uc001grq.1 + 94 14978 c.14749C>T c.(14749-14751)CGT>TGT p.R4917C HMCN1_uc001grs.1_Missense_Mutation_p.R486C NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4917 Nidogen G2 beta-barrel. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CAATGTACCTCGTAGTCTTGG 0.323 NA 19 61 0 0 0.010504 0 0 CFH 3075 broad.mit.edu 37 1 196648785 196648785 + Nonsense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:196648785G>T uc001gtj.3 + 6 892 c.652G>T c.(652-654)GGA>TGA p.G218* CFH_uc001gti.3_Nonsense_Mutation_p.G218*|CFH_uc009wyw.2_Nonsense_Mutation_p.G218*|CFH_uc009wyx.2_Nonsense_Mutation_p.G154* NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 218 Sushi 4. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 TGTTATAAATGGATCTCCTAT 0.303 NA 21 54 6.33239e-15 7.59576e-15 0.010504 1 0 CFHR5 81494 broad.mit.edu 37 1 196953168 196953168 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:196953168C>A uc001gts.3 + 3 459 c.331C>A c.(331-333)CAA>AAA p.Q111K NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN complement factor H-related 5 precursor 111 Sushi 2. complement activation, alternative pathway extracellular region breast(1)|skin(1) 2 TGATACTGTACAAATTATTTG 0.383 NA 27 45 3.90053e-15 4.73084e-15 0.012213 1 0 CFHR5 81494 broad.mit.edu 37 1 196953194 196953195 + Missense_Mutation DNP CC CC AA TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:196953194_196953195CC>AA uc001gts.3 + 3 485_486 c.357_358CC>AA c.(355-360)AGCCTT>AGAATT p.119_120SL>RI NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN complement factor H-related 5 precursor 119_120 Sushi 2. complement activation, alternative pathway extracellular region breast(1)|skin(1) 2 CAGGATACAGCCTTCAAAACAA 0.396 NA 28 39 0 0 0.004672 0 0 KIF21B 23046 broad.mit.edu 37 1 200959710 200959710 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:200959710G>T uc001gvs.1 - 19 3146 c.2829C>A c.(2827-2829)CTC>CTA p.L943L KIF21B_uc001gvr.1_Silent_p.L943L|KIF21B_uc009wzl.1_Silent_p.L943L|KIF21B_uc010ppn.1_Silent_p.L943L NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 943 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 TCACCTTGATGAGCCGCTCCA 0.582 NA 21 60 1.96292e-10 2.23682e-10 0.010504 1 0 NFASC 23114 broad.mit.edu 37 1 204971877 204971877 + Splice_Site SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:204971877G>T uc001hbj.2 + 27 3617 c.3289_splice c.e27+1 p.A1097_splice NFASC_uc010pra.1_Intron|NFASC_uc001hbi.2_Intron|NFASC_uc010prb.1_Intron|NFASC_uc010prc.1_Intron|NFASC_uc001hbl.1_Intron|NFASC_uc001hbm.1_Splice_Site_p.A120_splice|NFASC_uc009xbh.1_Intron NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) ACCAGTACAGGTGAGAGGGGA 0.552 NA 4 60 0.000602214 0.000621232 0.000602 1 0 IL20 50604 broad.mit.edu 37 1 207039976 207039976 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:207039976C>G uc001her.2 + 3 417 c.373C>G c.(373-375)CTC>GTC p.L125V IL20_uc010pry.1_Missense_Mutation_p.L196V|IL20_uc009xby.2_Missense_Mutation_p.L125V NM_018724 NP_061194 Q9NYY1 IL20_HUMAN interleukin 20 precursor 125 positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response extracellular space cytokine activity|interleukin-20 receptor binding 0 Breast(84;0.201) OV - Ovarian serous cystadenocarcinoma(81;0.00459) GGACCTCCGGCTCTGTGTGAG 0.483 NA 152 185 0 0 0.00361 0 0 LAMB3 3914 broad.mit.edu 37 1 209797302 209797302 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:209797302C>T uc001hhg.2 - 14 2410 c.2020G>A c.(2020-2022)GAG>AAG p.E674K LAMB3_uc009xco.2_Missense_Mutation_p.E674K|LAMB3_uc001hhh.2_Missense_Mutation_p.E674K|LAMB3_uc010psl.1_RNA|hsa-mir-4260|MI0015859_5'Flank NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 674 Domain II. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GACAACGTCTCCTCCTCCAGG 0.507 NA 37 93 0 0 0.00623 0 0 USH2A 7399 broad.mit.edu 37 1 215821958 215821958 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:215821958G>C uc001hku.1 - 66 14881 c.14494C>G c.(14494-14496)CTG>GTG p.L4832V NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4832 Extracellular (Potential).|Fibronectin type-III 34. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGAGAGGACAGTCCTGAGGGT 0.567 NA HNSCC(13;0.011) 38 78 0 0 0.004289 0 0 USH2A 7399 broad.mit.edu 37 1 215933050 215933050 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:215933050C>G uc001hku.1 - 57 11570 c.11183G>C c.(11182-11184)GGC>GCC p.G3728A NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3728 Fibronectin type-III 22.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTCCTCACTGCCACCCAGGAA 0.403 NA HNSCC(13;0.011) 36 78 0 0 0.004878 0 0 RRP15 51018 broad.mit.edu 37 1 218458660 218458660 + Missense_Mutation SNP T T C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:218458660T>C uc001hlj.2 + 1 32 c.2T>C c.(1-3)ATG>ACG p.M1T NM_016052 NP_057136 Q9Y3B9 RRP15_HUMAN ribosomal RNA processing 15 homolog 1 mitochondrion|nucleolus protein binding 0 all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248) CGCAGAAAAATGGCAGCCGCC 0.562 NA 16 52 0 0 0.00278 0 0 ITPKB 3707 broad.mit.edu 37 1 226923860 226923860 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:226923860C>T uc010pvo.1 - 2 1640 c.1300G>A c.(1300-1302)GGG>AGG p.G434R ITPKB_uc001hqh.2_Missense_Mutation_p.G434R NM_002221 NP_002212 P27987 IP3KB_HUMAN 1D-myo-inositol-trisphosphate 3-kinase B 434 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity ovary(4)|central_nervous_system(1) 5 Prostate(94;0.0773) CAACGCCCCCCGCCCACGGGG 0.706 Colon(84;110 1851 5306 33547) NA 17 40 0 0 0.004007 0 0 NUP133 55746 broad.mit.edu 37 1 229606485 229606485 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:229606485G>C uc001htn.2 - 15 2010 c.1918C>G c.(1918-1920)CTC>GTC p.L640V NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 640 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) TGCTCACAGAGCAACAGTCGA 0.483 NA 15 110 0 0 0.004007 0 0 PGBD5 79605 broad.mit.edu 37 1 230492796 230492796 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:230492796G>A uc010pwb.1 - 2 396 c.396C>T c.(394-396)CTC>CTT p.L132L PGBD5_uc001htv.2_Silent_p.L231L NM_024554 NP_078830 Q8N414 PGBD5_HUMAN piggyBac transposable element derived 5 132 integral to membrane ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) GGCTCATGACGAGGGCGAGGC 0.622 NA 16 73 0 0 0.003163 0 0 EGLN1 54583 broad.mit.edu 37 1 231557539 231557539 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:231557539G>A uc001huv.2 - 1 3252 c.96C>T c.(94-96)CGC>CGT p.R32R EGLN1_uc001huu.3_5'Flank NM_022051 NP_071334 Q9GZT9 EGLN1_HUMAN egl nine homolog 1 32 MYND-type. negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia cytosol iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding 0 Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244) Vitamin C(DB00126) AGCGGCTGCAGCGCAGCAGGT 0.667 NA 5 17 0 0 0.001168 0 0 NID1 4811 broad.mit.edu 37 1 236157056 236157056 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:236157056C>A uc001hxo.2 - 13 2746 c.2644G>T c.(2644-2646)GGG>TGG p.G882W NID1_uc009xgd.2_Missense_Mutation_p.G749W|NID1_uc009xgc.2_5'UTR NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 882 Thyroglobulin type-1. cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GCGTAGTGCCCGTGCGCATCG 0.697 NA 20 29 1.10513e-12 1.29086e-12 0.002299 1 0 RYR2 6262 broad.mit.edu 37 1 237777971 237777971 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:237777971C>A uc001hyl.1 + 37 5663 c.5543C>A c.(5542-5544)CCC>CAC p.P1848H NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1848 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTGATTGAGCCCAGTGTGTTT 0.493 NA 42 119 1.47197e-15 1.80091e-15 0.007835 1 0 KIF26B 55083 broad.mit.edu 37 1 245848725 245848725 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:245848725G>A uc001ibf.1 + 12 2880 c.2440G>A c.(2440-2442)GGC>AGC p.G814S KIF26B_uc001ibg.1_Missense_Mutation_p.G432S|KIF26B_uc001ibh.1_Missense_Mutation_p.G56S NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 814 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3) 3 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) CAGCTCGTCCGGCGGGGAGAG 0.642 NA 5 40 0 0 0.001984 0 0 CNST 163882 broad.mit.edu 37 1 246811011 246811011 + Nonsense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:246811011C>G uc001ibp.2 + 9 1886 c.1508C>G c.(1507-1509)TCA>TGA p.S503* CNST_uc001ibo.3_Nonsense_Mutation_p.S503* NM_152609 NP_689822 Q6PJW8 CNST_HUMAN hypothetical protein LOC163882 isoform 1 503 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding 0 CAGGCTGACTCAGACGGTTCT 0.468 NA 8 128 0 0 0.00308 0 0 ZNF670 93474 broad.mit.edu 37 1 247201040 247201040 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:247201040C>A uc001icd.1 - 4 1052 c.881G>T c.(880-882)AGA>ATA p.R294I ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron NM_033213 NP_149990 Q9BS34 ZN670_HUMAN zinc finger protein 670 294 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00427) TCTGAGGACTCTGGAACATCT 0.403 NA 62 136 2.75338e-15 3.34363e-15 0.00361 1 0 ZNF669 79862 broad.mit.edu 37 1 247264069 247264069 + Silent SNP A A G rs142281141 TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:247264069A>G uc001ice.2 - 4 1175 c.1002T>C c.(1000-1002)TAT>TAC p.Y334Y ZNF669_uc001icf.2_Silent_p.Y248Y NM_024804 NP_079080 Q96BR6 ZN669_HUMAN zinc finger protein 669 isoform 1 334 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00427) TGGTACATTTATAGGGTCTTT 0.413 NA 77 93 0 0 0.00361 0 0 OR2T3 343173 broad.mit.edu 37 1 248637229 248637229 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:248637229C>T uc001iel.1 + 1 578 c.578C>T c.(577-579)TCC>TTC p.S193F NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 193 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) CTGAAGCTCTCCTGCTCTGAC 0.517 NA 131 227 0 0 0.00361 0 0 ZMYND11 10771 broad.mit.edu 37 10 255971 255971 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:255971T>A uc010pzt.1 + 3 687 c.259T>A c.(259-261)TTG>ATG p.L87M ZMYND11_uc001ifk.2_Missense_Mutation_p.L87M|ZMYND11_uc010pzu.1_Missense_Mutation_p.L87M|ZMYND11_uc010pzv.1_Missense_Mutation_p.L87M|ZMYND11_uc010pzw.1_Missense_Mutation_p.L87M|ZMYND11_uc001ifm.2_Missense_Mutation_p.L87M|ZMYND11_uc010pzx.1_Missense_Mutation_p.L87M|ZMYND11_uc001ifn.2_Missense_Mutation_p.L87M|ZMYND11_uc009xhg.2_Missense_Mutation_p.L70M|ZMYND11_uc009xhh.2_Missense_Mutation_p.L41M|ZMYND11_uc010pzy.1_Missense_Mutation_p.L41M NM_006624 NP_006615 Q15326 ZMY11_HUMAN zinc finger, MYND domain containing 11 isoform 47 cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.132) Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106) AGGATATTGGTTGCCAGGAGA 0.353 NA 31 90 0 0 0.012213 0 0 ANKRD16 54522 broad.mit.edu 37 10 5929981 5929981 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:5929981C>G uc010qat.1 - 2 907 c.364G>C c.(364-366)GAG>CAG p.E122Q ANKRD16_uc009xie.2_Missense_Mutation_p.E122Q|ANKRD16_uc009xif.2_Missense_Mutation_p.E122Q|ANKRD16_uc001iiq.2_Missense_Mutation_p.E122Q|FBXO18_uc001iir.2_5'Flank|FBXO18_uc001iis.2_5'Flank|FBXO18_uc009xig.2_5'Flank NM_019046 NP_061919 Q6P6B7 ANR16_HUMAN ankyrin repeat domain 16 isoform a 122 ANK 3. 0 TCCACCAGCTCCTGGATCACC 0.537 NA 47 233 0 0 0.00361 0 0 IL2RA 3559 broad.mit.edu 37 10 6063568 6063568 + Nonsense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:6063568G>T uc001iiz.1 - 4 615 c.456C>A c.(454-456)TGC>TGA p.C152* IL2RA_uc009xih.1_Intron|IL2RA_uc001ija.1_Intron NM_000417 NP_000408 P01589 IL2RA_HUMAN interleukin 2 receptor, alpha chain precursor 152 Sushi 2.|Extracellular (Potential). cell proliferation integral to membrane interleukin-2 receptor activity ovary(1)|skin(1) 2 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) ATCCCTGGACGCACTGATAAT 0.527 NA 60 160 5.73332e-34 8.20241e-34 0.00361 1 0 ITIH2 3698 broad.mit.edu 37 10 7759635 7759635 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:7759635C>A uc001ijs.2 + 6 676 c.514C>A c.(514-516)CTC>ATC p.L172I NM_002216 NP_002207 P19823 ITIH2_HUMAN inter-alpha globulin inhibitor H2 polypeptide 172 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(1)|pancreas(1)|skin(1) 3 AGTAAATGTCCTCCCAGGAGC 0.493 NA 72 267 1.79293e-35 2.58774e-35 0.00361 1 0 KIN 22944 broad.mit.edu 37 10 7808025 7808025 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:7808025C>A uc001ijt.2 - 9 888 c.840G>T c.(838-840)TGG>TGT p.W280C KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Missense_Mutation_p.W280C|KIN_uc010qba.1_Missense_Mutation_p.W174C NM_012311 NP_036443 O60870 KIN17_HUMAN HsKin17 protein 280 DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix double-stranded DNA binding|RNA binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 CAGGCTGTAGCCAGTAGTCTG 0.318 NA 19 62 1.64113e-05 1.71828e-05 0.010504 1 0 ITGA8 8516 broad.mit.edu 37 10 15617523 15617523 + Nonsense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:15617523C>A uc001ioc.1 - 24 2443 c.2443G>T c.(2443-2445)GAG>TAG p.E815* ITGA8_uc010qcb.1_Nonsense_Mutation_p.E800* NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 815 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 CCAACCTCCTCCTCTTTGTGG 0.423 NA 22 115 6.21321e-17 7.70753e-17 0.00278 1 0 STAM 8027 broad.mit.edu 37 10 17726723 17726723 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:17726723C>A uc001ipj.1 + 3 391 c.175C>A c.(175-177)CCT>ACT p.P59T STAM_uc010qcf.1_Intron NM_003473 NP_003464 Q92783 STAM1_HUMAN signal transducing adaptor molecule 1 59 VHS. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity large_intestine(1)|ovary(1) 2 CCACAAAGATCCTCACGTTGC 0.373 NA 10 97 0.000978159 0.00100587 0.010729 1 0 SLC39A12 221074 broad.mit.edu 37 10 18250525 18250525 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:18250525G>T uc001ipo.2 + 3 550 c.277G>T c.(277-279)GCA>TCA p.A93S SLC39A12_uc001ipn.2_Missense_Mutation_p.A93S|SLC39A12_uc001ipp.2_Missense_Mutation_p.A93S|SLC39A12_uc010qck.1_5'UTR NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 93 Extracellular (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 TGAACCAGATGCACTATTACT 0.373 NA 36 60 6.53348e-20 8.34786e-20 0.003755 1 0 PIP4K2A 5305 broad.mit.edu 37 10 22856817 22856817 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:22856817C>T uc001irl.3 - 6 889 c.641G>A c.(640-642)GGC>GAC p.G214D PIP4K2A_uc010qcu.1_Missense_Mutation_p.G74D NM_005028 NP_005019 P48426 PI42A_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 214 PIPK. 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding ovary(1)|skin(1) 2 CACTGTAGAGCCCTGAAACAC 0.483 NA 31 179 0 0 0.010818 0 0 KIAA1217 56243 broad.mit.edu 37 10 24762923 24762923 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:24762923C>G uc001iru.3 + 6 2016 c.1613C>G c.(1612-1614)CCT>CGT p.P538R KIAA1217_uc001irs.2_Missense_Mutation_p.P458R|KIAA1217_uc001irt.3_Missense_Mutation_p.P538R|KIAA1217_uc010qcy.1_Missense_Mutation_p.P538R|KIAA1217_uc010qcz.1_Missense_Mutation_p.P538R|KIAA1217_uc001irv.1_Missense_Mutation_p.P388R|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Missense_Mutation_p.P256R|KIAA1217_uc001irz.2_Missense_Mutation_p.P256R|KIAA1217_uc001irx.2_Missense_Mutation_p.P256R|KIAA1217_uc001iry.2_Missense_Mutation_p.P256R NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 538 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 GACCTCGGCCCTCCTCTAATG 0.547 NA 54 65 0 0 0.00361 0 0 SVIL 6840 broad.mit.edu 37 10 29779846 29779846 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:29779846G>A uc001iut.1 - 22 4875 c.4122C>T c.(4120-4122)CTC>CTT p.L1374L SVIL_uc010qdw.1_Silent_p.L288L|SVIL_uc001iuu.1_Silent_p.L948L|SVIL_uc009xlc.2_Silent_p.L166L NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 1374 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) ATTCCTGAAGGAGATCTTCTC 0.527 NA 14 120 0 0 0.004007 0 0 ZEB1 6935 broad.mit.edu 37 10 31810622 31810622 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:31810622G>C uc001ivs.3 + 7 2422 c.2359G>C c.(2359-2361)GAA>CAA p.E787Q ZEB1_uc001ivr.3_Missense_Mutation_p.E569Q|ZEB1_uc010qee.1_Missense_Mutation_p.E569Q|ZEB1_uc010qef.1_Missense_Mutation_p.E569Q|ZEB1_uc009xlj.1_Missense_Mutation_p.E713Q|ZEB1_uc010qeg.1_Missense_Mutation_p.E646Q|ZEB1_uc009xlk.1_Missense_Mutation_p.E569Q|ZEB1_uc001ivt.3_Missense_Mutation_p.E569Q|ZEB1_uc001ivu.3_Missense_Mutation_p.E788Q|ZEB1_uc001ivv.3_Missense_Mutation_p.E767Q|ZEB1_uc010qeh.1_Missense_Mutation_p.E720Q|ZEB1_uc009xlo.1_Missense_Mutation_p.E770Q|ZEB1_uc009xlp.2_Missense_Mutation_p.E771Q NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 787 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) TACAGACTCAGAACCAGTTGT 0.448 Ovarian(40;423 959 14296 36701 49589) NA 12 86 0 0 0.010729 0 0 RET 5979 broad.mit.edu 37 10 43622127 43622127 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:43622127C>T uc001jal.2 + 19 3334 c.3144C>T c.(3142-3144)CTC>CTT p.L1048L RET_uc001jak.1_Silent_p.L1048L|RET_uc010qez.1_Silent_p.L794L NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 1048 Cytoplasmic (Potential). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) ATGCCCCCCTCCCTCGAGCCC 0.522 Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149) 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma 71 70 0 0 0.00361 0 0 FRMPD2 143162 broad.mit.edu 37 10 49414917 49414917 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:49414917C>T uc001jgi.2 - 14 1778 c.1671G>A c.(1669-1671)AGG>AGA p.R557R FRMPD2_uc001jgh.2_Silent_p.R525R|FRMPD2_uc001jgj.2_Silent_p.R535R NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 557 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) CTTCTGGCCTCCTCTTCTCTG 0.488 NA 55 53 0 0 0.00361 0 0 ERCC6 2074 broad.mit.edu 37 10 50691563 50691563 + Splice_Site SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:50691563C>A uc001jhs.3 - 9 1976 c.1822_splice c.e9-1 p.E608_splice ERCC6_uc010qgr.1_Splice_Site|ERCC6_uc001jhr.3_Splice_Site_p.E8_splice NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 TTAGTTTCTCCTGAGACCACA 0.348 NA Direct_reversal_of_damage|NER 22 82 1.9806e-07 2.16145e-07 0.002299 1 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:51093329C>T uc001jif.2 - 8 2011 c.1750G>A c.(1750-1752)GCA>ACA p.A584T PARG_uc001jih.2_Missense_Mutation_p.A584T|PARG_uc001jig.2_Missense_Mutation_p.A170T|PARG_uc010qgv.1_Intron|PARG_uc009xoi.2_Intron|PARG_uc010qgw.1_Missense_Mutation_p.A475T|PARG_uc009xoj.2_Missense_Mutation_p.A135T|PARG_uc010qgx.1_Missense_Mutation_p.A502T NM_003631 NP_003622 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity ovary(2) 2 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318 NA 4 100 0 0 0.009096 0 0 PCDH15 65217 broad.mit.edu 37 10 55617011 55617011 + Missense_Mutation SNP T T C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:55617011T>C uc001jju.1 - 28 4125 c.3730A>G c.(3730-3732)AAT>GAT p.N1244D PCDH15_uc010qhq.1_Missense_Mutation_p.N1249D|PCDH15_uc010qhr.1_Missense_Mutation_p.N1244D|PCDH15_uc010qhs.1_Missense_Mutation_p.N1256D|PCDH15_uc010qht.1_Missense_Mutation_p.N1251D|PCDH15_uc010qhu.1_Missense_Mutation_p.N1244D|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.N1244D|PCDH15_uc010qhw.1_Missense_Mutation_p.N1207D|PCDH15_uc010qhx.1_Missense_Mutation_p.N1173D|PCDH15_uc010qhy.1_Missense_Mutation_p.N1249D|PCDH15_uc010qhz.1_Missense_Mutation_p.N1244D|PCDH15_uc010qia.1_Missense_Mutation_p.N1222D|PCDH15_uc010qib.1_Missense_Mutation_p.N1222D NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1244 Cadherin 11.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TCCAGCTGATTGACCACGGAG 0.353 NA HNSCC(58;0.16) 16 68 0 0 0.003163 0 0 PCDH15 65217 broad.mit.edu 37 10 56138692 56138692 + Silent SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:56138692C>G uc001jju.1 - 4 563 c.168G>C c.(166-168)CTG>CTC p.L56L PCDH15_uc010qhq.1_Silent_p.L61L|PCDH15_uc010qhr.1_Silent_p.L56L|PCDH15_uc010qhs.1_Silent_p.L61L|PCDH15_uc010qht.1_Silent_p.L56L|PCDH15_uc010qhu.1_Silent_p.L56L|PCDH15_uc001jjv.1_Silent_p.L34L|PCDH15_uc010qhv.1_Silent_p.L56L|PCDH15_uc010qhw.1_Silent_p.L56L|PCDH15_uc010qhx.1_Silent_p.L56L|PCDH15_uc010qhy.1_Silent_p.L61L|PCDH15_uc010qhz.1_Silent_p.L56L|PCDH15_uc010qia.1_Silent_p.L34L|PCDH15_uc010qib.1_Silent_p.L34L|PCDH15_uc001jjw.2_Silent_p.L56L NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 56 Cadherin 1.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TGTTGTCCACCAGAATTGTAC 0.428 NA HNSCC(58;0.16) 53 213 0 0 0.00361 0 0 SLC16A9 220963 broad.mit.edu 37 10 61413889 61413889 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:61413889C>T uc010qig.1 - 5 1344 c.895G>A c.(895-897)GCT>ACT p.A299T NM_194298 NP_919274 Q7RTY1 MOT9_HUMAN solute carrier family 16 (monocarboxylic acid 299 Extracellular (Potential). urate metabolic process integral to membrane|plasma membrane symporter activity p.A299A(1) skin(2)|ovary(1) 3 TTAAAAAGAGCCACAGTTTCA 0.368 NA 58 76 0 0 0.00361 0 0 COL13A1 1305 broad.mit.edu 37 10 71681686 71681686 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:71681686C>A uc001jpr.1 + 20 1641 c.1105C>A c.(1105-1107)CAG>AAG p.Q369K COL13A1_uc001jqj.1_Missense_Mutation_p.Q369K|COL13A1_uc001jps.1_Missense_Mutation_p.Q340K|COL13A1_uc001jpt.1_Missense_Mutation_p.Q328K|COL13A1_uc001jpu.1_Missense_Mutation_p.Q350K|COL13A1_uc001jpv.1_Missense_Mutation_p.Q369K|COL13A1_uc001jpx.1_Missense_Mutation_p.Q347K|COL13A1_uc001jpw.1_Missense_Mutation_p.Q316K|COL13A1_uc001jpy.1_Missense_Mutation_p.Q307K|COL13A1_uc001jpz.1_Missense_Mutation_p.Q312K|COL13A1_uc001jqa.1_Missense_Mutation_p.Q309K|COL13A1_uc001jqc.1_Missense_Mutation_p.Q369K|COL13A1_uc001jqb.1_Missense_Mutation_p.Q318K|COL13A1_uc001jql.2_Missense_Mutation_p.Q369K|COL13A1_uc001jqd.1_Missense_Mutation_p.Q357K|COL13A1_uc001jqe.1_Missense_Mutation_p.Q352K|COL13A1_uc001jqf.1_Missense_Mutation_p.Q350K|COL13A1_uc001jqg.1_Missense_Mutation_p.Q347K|COL13A1_uc001jqh.1_Missense_Mutation_p.Q369K|COL13A1_uc001jqi.1_Missense_Mutation_p.Q369K|COL13A1_uc010qjf.1_Missense_Mutation_p.Q159K|COL13A1_uc001jqk.1_Missense_Mutation_p.Q207K NM_005203 NP_005194 Q5TAT6 CODA1_HUMAN alpha 1 type XIII collagen isoform 1 369 Extracellular (Potential).|Triple-helical region 2 (COL2). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding ovary(1) 1 Atorvastatin(DB01076)|Simvastatin(DB00641) CCTCCTGGGGCAGAAGGTAGG 0.597 NA 14 13 1.49906e-05 1.57289e-05 0.00245 1 0 PRF1 5551 broad.mit.edu 37 10 72360567 72360567 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:72360567C>T uc009xqg.2 - 2 253 c.92G>A c.(91-93)TGC>TAC p.C31Y PRF1_uc001jrf.3_Missense_Mutation_p.C31Y NM_001083116 NP_001076585 P14222 PERF_HUMAN perforin 1 precursor 31 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GCTGCGCTTGCACTCTGAGCG 0.682 NA M various leukaemia|lymphoma Type 2 familial hemophagocytic lymphohistiocytosis Familial_Hemophagocytic_Lymphohistiocytosis 24 20 0 0 0.004656 0 0 DNAJC9 23234 broad.mit.edu 37 10 75005739 75005739 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:75005739G>A uc001jtr.2 - 3 595 c.517C>T c.(517-519)CCA>TCA p.P173S DNAJC9_uc010qkg.1_Missense_Mutation_p.P173S NM_015190 NP_056005 Q8WXX5 DNJC9_HUMAN DnaJ homolog, subfamily C, member 9 173 protein folding heat shock protein binding|unfolded protein binding 0 Prostate(51;0.0119) TTATAGGATGGGACCTCTCCG 0.393 NA 42 125 0 0 0.00874 0 0 SYNPO2L 79933 broad.mit.edu 37 10 75407041 75407041 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:75407041G>C uc001jut.3 - 4 2521 c.2369C>G c.(2368-2370)TCT>TGT p.S790C SYNPO2L_uc001jus.3_Missense_Mutation_p.S566C NM_001114133 NP_001107605 Q9H987 SYP2L_HUMAN synaptopodin 2-like isoform a 790 Pro-rich. cytoplasm|cytoskeleton actin binding ovary(1) 1 Prostate(51;0.0112) CGGGGTAGGAGAAGGACTTCT 0.592 NA 56 280 0 0 0.00361 0 0 MYST4 23522 broad.mit.edu 37 10 76788408 76788408 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:76788408C>T uc001jwn.1 + 18 4319 c.3826C>T c.(3826-3828)CCG>TCG p.P1276S MYST4_uc001jwo.1_Missense_Mutation_p.P984S|MYST4_uc001jwp.1_Missense_Mutation_p.P1093S NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic 1276 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) TTTGTACACCCCGCCAGAAAC 0.483 NA T CREBBP AML 25 111 0 0 0.00333 0 0 LRIT2 340745 broad.mit.edu 37 10 85984343 85984344 + Missense_Mutation DNP TG TG CT TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:85984343_85984344TG>CT uc001kcy.2 - 2 645_646 c.637_638CA>AG c.(637-639)CAG>AGG p.Q213R LRIT2_uc010qmc.1_Missense_Mutation_p.Q213R NM_001017924 NP_001017924 A6NDA9 LRIT2_HUMAN leucine rich repeat containing 22 precursor 213 LRRCT. integral to membrane ovary(2) 2 CTTGACAAACTGGACAAGCCCC 0.559 NA 8 110 0 0 0.004672 0 0 GRID1 2894 broad.mit.edu 37 10 87362310 87362310 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:87362310G>C uc001kdl.1 - 16 2851 c.2750C>G c.(2749-2751)ACA>AGA p.T917R GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.T488R|uc001kdk.1_Intron NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 917 Cytoplasmic (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) GTACTCCCGTGTCGGCTCCAA 0.612 NA Multiple Myeloma(13;0.14) 10 58 0 0 0.006214 0 0 OPN4 94233 broad.mit.edu 37 10 88419123 88419123 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:88419123G>T uc001kdq.2 + 5 925 c.698G>T c.(697-699)CGT>CTT p.R233L OPN4_uc001kdp.2_Missense_Mutation_p.R244L|OPN4_uc010qmk.1_Missense_Mutation_p.R244L|OPN4_uc009xsx.1_5'Flank NM_033282 NP_150598 Q9UHM6 OPN4_HUMAN opsin 4 isoform 1 233 Extracellular (Potential). phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception integral to membrane|plasma membrane 11-cis retinal binding|G-protein coupled photoreceptor activity ovary(1) 1 CCGGCCGTGCGTGCCTACACC 0.592 NA 40 123 5.48756e-27 7.52141e-27 0.011902 1 0 IFIT1B 439996 broad.mit.edu 37 10 91144305 91144305 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:91144305C>T uc001kgh.2 + 2 1315 c.1235C>T c.(1234-1236)TCC>TTC p.S412F LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron NM_001010987 NP_001010987 Q5T764 IFT1B_HUMAN interferon-induced protein with 412 TPR 7. binding 0 GAAAAAATGTCCCATTCCAGG 0.383 NA 72 81 0 0 0.00361 0 0 ANKRD1 27063 broad.mit.edu 37 10 92679928 92679928 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:92679928C>T uc001khe.1 - 2 453 c.205G>A c.(205-207)GAG>AAG p.E69K NM_014391 NP_055206 Q15327 ANKR1_HUMAN cardiac ankyrin repeat protein 69 Potential. cellular lipid metabolic process|defense response|signal transduction DNA binding 0 Colorectal(252;0.0475) GCTCTCACCTCTGCCTCTCGT 0.502 NA 56 192 0 0 0.00361 0 0 PIPSL 266971 broad.mit.edu 37 10 95720628 95720628 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:95720628G>A uc009xuj.2 - 1 1045 c.526C>T c.(526-528)CTG>TTG p.L176L NR_002319 RecName: Full=Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha; Short=PtdIns(4)P-5-kinase alpha; Short=PIP5KIalpha; EC=2.7.1.68; AltName: Full=Phosphatidylinositol-4-phosphate 5-kinase type I alpha; AltName: Full=68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha; 0 ACACAGTACAGTCCATAGAAT 0.433 NA 16 156 0 0 0.008871 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98380134 98380134 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:98380134C>T uc001kmq.2 - 12 2044 c.1916G>A c.(1915-1917)CGA>CAA p.R639Q PIK3AP1_uc001kmo.2_Missense_Mutation_p.R238Q|PIK3AP1_uc001kmp.2_Missense_Mutation_p.R461Q NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 639 cytoplasm|plasma membrane upper_aerodigestive_tract(3)|ovary(1)|skin(1) 5 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) GGACTCCGATCGTTTCTTCTG 0.383 NA 154 166 0 0 0.00361 0 0 HPS1 3257 broad.mit.edu 37 10 100189563 100189563 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:100189563C>T uc010qpf.1 - 9 1098 c.852G>A c.(850-852)GGG>GGA p.G284G HPS1_uc001kpi.1_Silent_p.G284G|HPS1_uc001kpj.1_Intron|HPS1_uc001kpk.1_Intron|HPS1_uc009xwb.2_Intron|HPS1_uc010qph.1_Silent_p.G284G|HPS1_uc001kpl.2_Silent_p.G284G NM_000195 NP_000186 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 protein isoform a 284 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity skin(1) 1 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) CTGCAGAGCTCCCCCCAGTTG 0.692 NA Hermansky-Pudlak_syndrome 33 152 0 0 0.007835 0 0 BTRC 8945 broad.mit.edu 37 10 103294514 103294514 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:103294514C>T uc001kta.2 + 10 1307 c.1194C>T c.(1192-1194)ACC>ACT p.T398T BTRC_uc001ktb.2_Silent_p.T362T|BTRC_uc001ktc.2_Silent_p.T372T NM_033637 NP_378663 Q9Y297 FBW1A_HUMAN beta-transducin repeat containing protein 398 WD 3. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway cytosol|nucleus|SCF ubiquitin ligase complex ovary(1) 1 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) TGATGGTGACCTGCTCCAAAG 0.493 NA 13 293 0 0 0.00245 0 0 KCNIP2 30819 broad.mit.edu 37 10 103588945 103588945 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:103588945C>T uc001kub.2 - 4 587 c.235G>A c.(235-237)GAT>AAT p.D79N KCNIP2_uc010qqg.1_5'Flank|KCNIP2_uc001ktx.2_RNA|KCNIP2_uc001kty.2_5'UTR|KCNIP2_uc001ktz.2_Missense_Mutation_p.D34N|KCNIP2_uc009xwu.2_Missense_Mutation_p.D29N|KCNIP2_uc009xwv.2_Missense_Mutation_p.D29N|KCNIP2_uc001kuc.2_Missense_Mutation_p.D94N|KCNIP2_uc001kue.2_Missense_Mutation_p.D61N|KCNIP2_uc001kud.2_Missense_Mutation_p.D29N|KCNIP2_uc001kuf.2_Missense_Mutation_p.D29N|KCNIP2_uc001kua.2_5'UTR|KCNIP2_uc009xww.2_RNA|KCNIP2_uc010qqh.1_Missense_Mutation_p.D34N|KCNIP2_uc010qqi.1_Missense_Mutation_p.D29N NM_173191 NP_775283 Q9NS61 KCIP2_HUMAN Kv channel interacting protein 2 isoform 2 79 clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission cytoplasm|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding 0 Colorectal(252;0.122) Epithelial(162;4.93e-09)|all cancers(201;2.63e-07) TCAAATTCATCGTCCACGCTG 0.632 NA 4 34 0 0 0.009096 0 0 ACTR1A 10121 broad.mit.edu 37 10 104241875 104241875 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:104241875C>T uc001kvv.2 - 8 916 c.808G>A c.(808-810)GAG>AAG p.E270K ACTR1A_uc010qqn.1_Missense_Mutation_p.E196K|ACTR1A_uc010qqo.1_Missense_Mutation_p.E223K NM_005736 NP_005727 P61163 ACTZ_HUMAN ARP1 actin-related protein 1 homolog A, 270 G2/M transition of mitotic cell cycle|vesicle-mediated transport centrosome|cytosol|dynactin complex ATP binding central_nervous_system(1) 1 Colorectal(252;0.122) Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222) TCACTCTCCTCTCCAATCAAA 0.572 NA 48 221 0 0 0.00361 0 0 CALHM1 255022 broad.mit.edu 37 10 105215366 105215366 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:105215366C>A uc001kxe.2 - 2 834 c.694G>T c.(694-696)GAC>TAC p.D232Y CALHM2_uc001kxd.1_5'Flank NM_001001412 NP_001001412 Q8IU99 CAHM1_HUMAN calcium homeostasis modulator 1 232 endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel activity|identical protein binding ovary(1) 1 CACGTCTCGTCGAAGAGCTTG 0.602 NA 53 34 5.76465e-13 6.74953e-13 0.00361 1 0 NEURL 9148 broad.mit.edu 37 10 105330648 105330648 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:105330648C>T uc001kxh.2 + 2 515 c.105C>T c.(103-105)TTC>TTT p.F35F NM_004210 NP_004201 O76050 NEU1A_HUMAN neuralized-like 35 nervous system development perinuclear region of cytoplasm zinc ion binding 0 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) GGGGCCCCTTCCCCGTCACTT 0.652 NA 19 403 0 0 0.007413 0 0 NEURL 9148 broad.mit.edu 37 10 105330828 105330828 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:105330828C>G uc001kxh.2 + 2 695 c.285C>G c.(283-285)TTC>TTG p.F95L NM_004210 NP_004201 O76050 NEU1A_HUMAN neuralized-like 95 NHR 1. nervous system development perinuclear region of cytoplasm zinc ion binding 0 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) CCATCACCTTCAGCAACCGCC 0.652 NA 4 103 0 0 0.009096 0 0 SORCS1 114815 broad.mit.edu 37 10 108367034 108367034 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:108367034G>C uc001kym.2 - 23 3063 c.3055C>G c.(3055-3057)CAC>GAC p.H1019D SORCS1_uc001kyl.2_Missense_Mutation_p.H1019D|SORCS1_uc009xxs.2_Missense_Mutation_p.H1019D|SORCS1_uc001kyn.1_Missense_Mutation_p.H1019D|SORCS1_uc001kyo.2_Missense_Mutation_p.H1019D NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 1019 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) ACCAGGATGTGCTGGCCTGGA 0.547 NA 21 61 0 0 0.010504 0 0 ADRA2A 150 broad.mit.edu 37 10 112838931 112838931 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:112838931G>T uc001kzo.2 + 1 2142 c.1177G>T c.(1177-1179)GTG>TTG p.V393L NM_000681 NP_000672 P08913 ADA2A_HUMAN alpha-2A-adrenergic receptor 378 Helical; Name=6; (By similarity). actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding 0 Breast(234;0.0735)|Lung NSC(174;0.238) Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118) Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392) CGTGCTGGCCGTGGTCATCGG 0.677 Esophageal Squamous(173;605 2658 7278 49362) NA 27 92 7.38237e-10 8.33493e-10 0.00632 1 0 AFAP1L2 84632 broad.mit.edu 37 10 116061184 116061184 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:116061184C>T uc001lbn.2 - 13 1772 c.1471G>A c.(1471-1473)GAT>AAT p.D491N AFAP1L2_uc001lbo.2_Missense_Mutation_p.D491N|AFAP1L2_uc010qse.1_Missense_Mutation_p.D544N|AFAP1L2_uc001lbp.2_Missense_Mutation_p.D519N|AFAP1L2_uc001lbr.1_Missense_Mutation_p.D491N|AFAP1L2_uc001lbm.2_Missense_Mutation_p.D13N|AFAP1L2_uc010qsd.1_Missense_Mutation_p.D57N|AFAP1L2_uc001lbq.1_Missense_Mutation_p.D13N NM_001001936 NP_001001936 Q8N4X5 AF1L2_HUMAN KIAA1914 protein isoform 1 491 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding ovary(1)|breast(1) 2 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) GGCAGGCCATCGATGTAAGTG 0.612 NA 28 99 0 0 0.003271 0 0 ATRNL1 26033 broad.mit.edu 37 10 117075071 117075071 + Silent SNP A A G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:117075071A>G uc001lcg.2 + 18 3248 c.2862A>G c.(2860-2862)GAA>GAG p.E954E ATRNL1_uc010qsm.1_Silent_p.E129E|ATRNL1_uc010qsn.1_RNA NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 954 PSI 5.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) AGTGTTTGGAACAGCCTGGAT 0.418 NA 51 70 0 0 0.00361 0 0 GFRA1 2674 broad.mit.edu 37 10 117853292 117853292 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:117853292C>A uc001lcj.2 - 8 1634 c.936G>T c.(934-936)TGG>TGT p.W312C GFRA1_uc001lci.2_Missense_Mutation_p.W307C|GFRA1_uc009xyr.2_Missense_Mutation_p.W307C NM_005264 NP_005255 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 isoform a 312 3. axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity ovary(1)|pancreas(1) 2 Lung NSC(174;0.21) all cancers(201;0.0337) TGCAGTCACACCATGGGGCCA 0.393 Ovarian(128;329 1725 45498 46808 50759) NA 18 84 5.01169e-05 5.2361e-05 0.00499 1 0 TACC2 10579 broad.mit.edu 37 10 123844559 123844559 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:123844559G>T uc001lfv.2 + 4 2904 c.2544G>T c.(2542-2544)CAG>CAT p.Q848H TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.Q848H|TACC2_uc010qtv.1_Missense_Mutation_p.Q848H NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 848 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TCAAGGAGCAGGCCCAGCCAC 0.532 NA 79 104 7.63117e-38 1.10958e-37 0.00361 1 0 C10orf120 399814 broad.mit.edu 37 10 124457976 124457976 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:124457976G>C uc001lgn.2 - 3 313 c.281C>G c.(280-282)GCA>GGA p.A94G NM_001010912 NP_001010912 Q5SQS8 CJ120_HUMAN hypothetical protein LOC399814 94 kidney(1) 1 all_neural(114;0.169)|Glioma(114;0.222) AAGCCTTCTTGCTGCTATGGT 0.463 NA 242 280 0 0 0.00361 0 0 BCCIP 56647 broad.mit.edu 37 10 127512263 127512263 + Missense_Mutation SNP A A G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr10:127512263A>G uc001ljb.3 + 1 160 c.137A>G c.(136-138)AAG>AGG p.K46R BCCIP_uc001ljd.3_Missense_Mutation_p.K46R|UROS_uc001lix.3_5'Flank|UROS_uc001liy.3_5'Flank|BCCIP_uc010qui.1_Missense_Mutation_p.K46R|BCCIP_uc001ljc.3_Missense_Mutation_p.K46R|BCCIP_uc010quj.1_Missense_Mutation_p.K46R NM_078468 NP_510868 Q9P287 BCCIP_HUMAN BRCA2 and CDKN1A-interacting protein isoform 46 cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex kinase regulator activity|protein binding ovary(1)|breast(1) 2 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) gacaaggaaaaggatgaagag 0.328 NA 3 132 0 0 0.004672 0 0 B4GALNT4 338707 broad.mit.edu 37 11 375893 375893 + Nonsense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:375893C>A uc001lpb.2 + 11 1041 c.1032C>A c.(1030-1032)TGC>TGA p.C344* NM_178537 NP_848632 Q76KP1 B4GN4_HUMAN beta 344 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity pancreas(1) 1 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGGAGCCCTGCGCCTACGCCC 0.602 NA 7 28 2.7689e-08 3.04547e-08 0.001984 1 0 B4GALNT4 338707 broad.mit.edu 37 11 379880 379880 + Silent SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:379880C>A uc001lpb.2 + 16 2512 c.2503C>A c.(2503-2505)CGG>AGG p.R835R NM_178537 NP_848632 Q76KP1 B4GN4_HUMAN beta 835 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity pancreas(1) 1 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) AAACCAGGCACGGTGGGTGGC 0.642 NA 12 37 7.93312e-07 8.58108e-07 0.00245 1 0 B4GALNT4 338707 broad.mit.edu 37 11 379894 379894 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:379894G>A uc001lpb.2 + 16 2526 c.2517G>A c.(2515-2517)CAG>CAA p.Q839Q NM_178537 NP_848632 Q76KP1 B4GN4_HUMAN beta 839 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity pancreas(1) 1 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGGTGGCACAGTTCCTGGCGG 0.657 NA 14 41 0 0 0.004007 0 0 B4GALNT4 338707 broad.mit.edu 37 11 379903 379903 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:379903G>A uc001lpb.2 + 16 2535 c.2526G>A c.(2524-2526)GCG>GCA p.A842A NM_178537 NP_848632 Q76KP1 B4GN4_HUMAN beta 842 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity pancreas(1) 1 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGTTCCTGGCGGACATGGCTG 0.677 NA 15 43 0 0 0.00499 0 0 EPS8L2 64787 broad.mit.edu 37 11 720113 720113 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:720113G>T uc001lqt.2 + 5 464 c.217G>T c.(217-219)GAC>TAC p.D73Y EPS8L2_uc010qwj.1_Missense_Mutation_p.D73Y|EPS8L2_uc001lqu.2_Missense_Mutation_p.D73Y|EPS8L2_uc010qwk.1_Missense_Mutation_p.D73Y|EPS8L2_uc001lqv.2_Missense_Mutation_p.D28Y|EPS8L2_uc001lqw.2_5'Flank|EPS8L2_uc001lqx.2_5'Flank NM_022772 NP_073609 Q9H6S3 ES8L2_HUMAN epidermal growth factor receptor pathway 73 PID. cytoplasm pancreas(1) 1 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTCTGTGGACGACGCCATCCG 0.612 NA 18 44 6.94344e-10 7.84841e-10 0.006122 1 0 MUC6 4588 broad.mit.edu 37 11 1017204 1017204 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:1017204G>C uc001lsw.2 - 31 5648 c.5597C>G c.(5596-5598)TCT>TGT p.S1866C NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 1866 Thr-rich.|2.|Approximate repeats. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GATGGAGGCAGAAGTGGCCAT 0.572 NA 14 544 0 0 0.010729 0 0 OR52R1 119695 broad.mit.edu 37 11 4825658 4825658 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:4825658G>A uc010qym.1 - 1 190 c.190C>T c.(190-192)CTG>TTG p.L64L NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, Error:Variant_position_missing_in_Q8NGF1_after_alignment sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) ACTCTCTGCAGATGATAACAA 0.408 NA 36 87 0 0 0.00623 0 0 OR51G2 81282 broad.mit.edu 37 11 4936269 4936269 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:4936269C>A uc001lzr.1 - 1 625 c.625G>T c.(625-627)GTC>TTC p.V209F NM_001005238 NP_001005238 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, 209 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ACTGTAGAGACGATGACAAAC 0.512 NA 25 40 5.35047e-06 5.68089e-06 0.00333 1 0 OR51G1 79324 broad.mit.edu 37 11 4944910 4944910 + Nonsense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:4944910G>T uc010qyr.1 - 1 660 c.660C>A c.(658-660)TAC>TAA p.Y220* NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, 220 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GGATGAGGGCGTATGAGAGAA 0.547 NA 53 71 4.86159e-25 6.52652e-25 0.00361 1 0 OR51G1 79324 broad.mit.edu 37 11 4944978 4944978 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:4944978G>T uc010qyr.1 - 1 592 c.592C>A c.(592-594)CAC>AAC p.H198N NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, 198 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CCATAGATGTGATTGACAATG 0.532 NA 43 82 1.8453e-21 2.39522e-21 0.010771 1 0 UBQLN3 50613 broad.mit.edu 37 11 5529609 5529609 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:5529609G>T uc001may.1 - 2 1266 c.1180C>A c.(1180-1182)CAG>AAG p.Q394K HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 394 ovary(3) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGAGAGGCTGGCCTGACCCA 0.577 Ovarian(72;684 1260 12332 41642 52180) NA 42 222 1.61863e-15 1.97787e-15 0.00361 1 0 ARFIP2 23647 broad.mit.edu 37 11 6501223 6501223 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:6501223C>G uc001mdk.2 - 3 312 c.175G>C c.(175-177)GGT>CGT p.G59R ARFIP2_uc001mdl.2_Missense_Mutation_p.G59R|ARFIP2_uc010ral.1_Missense_Mutation_p.G21R|ARFIP2_uc010ram.1_Silent_p.L4L|ARFIP2_uc010ran.1_Missense_Mutation_p.G59R|ARFIP2_uc001mdm.2_RNA|ARFIP2_uc009yfe.1_Missense_Mutation_p.G59R|FXC1_uc001mdn.3_5'Flank|FXC1_uc001mdo.3_5'Flank NM_012402 NP_036534 P53365 ARFP2_HUMAN ADP-ribosylation factor interacting protein 2 59 actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction cell cortex|plasma membrane|ruffle GTP binding|GTP-dependent protein binding|Rac GTPase binding 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGTCCATCACCAGAGCCCCCA 0.527 Melanoma(119;796 1674 9049 20480 24794) NA 46 270 0 0 0.00361 0 0 DCHS1 8642 broad.mit.edu 37 11 6653736 6653736 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:6653736G>T uc001mem.1 - 6 3417 c.3007C>A c.(3007-3009)CCT>ACT p.P1003T NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 1003 Cadherin 10.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGGTAGGTAGGGCTGTTGAAT 0.642 NA 6 10 0.00116845 0.00119778 0.001168 1 0 DCHS1 8642 broad.mit.edu 37 11 6661762 6661762 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:6661762G>T uc001mem.1 - 2 1493 c.1083C>A c.(1081-1083)TCC>TCA p.S361S NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 361 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGACAGTCATGGAGGGCTGAT 0.582 NA 55 127 2.41709e-19 3.05251e-19 0.00361 1 0 OR2AG1 144125 broad.mit.edu 37 11 6806516 6806516 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:6806516C>A uc001mer.1 + 1 248 c.248C>A c.(247-249)GCG>GAG p.A83E NM_001004489 NP_001004489 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, 83 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AAGGCCCTTGCGGACTTTCTG 0.572 NA 75 130 5.41795e-27 7.44684e-27 0.00361 1 0 OR10A5 144124 broad.mit.edu 37 11 6867170 6867170 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:6867170T>A uc001met.1 + 1 257 c.257T>A c.(256-258)CTG>CAG p.L86Q NM_178168 NP_835462 Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, 86 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CTGGGGACCCTGCTTGCCCAG 0.502 Pancreas(44;21 1072 25662 28041 45559) NA 78 135 0 0 0.00361 0 0 NLRP10 338322 broad.mit.edu 37 11 7982771 7982771 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:7982771G>T uc001mfv.1 - 2 405 c.388C>A c.(388-390)CCC>ACC p.P130T NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 130 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) TCTGAGCTGGGCTTGGCCACC 0.562 NA 47 91 1.23103e-26 1.6779e-26 0.013114 1 0 MUC15 143662 broad.mit.edu 37 11 26586850 26586850 + Nonsense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:26586850C>A uc001mqx.2 - 2 822 c.556G>T c.(556-558)GAA>TAA p.E186* ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Nonsense_Mutation_p.E213*|MUC15_uc001mqy.2_Nonsense_Mutation_p.E213* NM_145650 NP_663625 Q8N387 MUC15_HUMAN mucin 15 isoform b 186 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 CCACTTGGTTCCACTATCAAG 0.418 NA 42 85 4.32679e-17 5.38787e-17 0.006999 1 0 CCDC34 91057 broad.mit.edu 37 11 27378962 27378962 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:27378962C>T uc001mrh.1 - 2 540 c.486G>A c.(484-486)CTG>CTA p.L162L CCDC34_uc001mri.1_Silent_p.L162L NM_030771 NP_110398 Q96HJ3 CCD34_HUMAN coiled-coil domain containing 34 isoform 1 162 Potential. 0 CTAGAGCTTTCAGTTGCAGCC 0.398 NA 38 82 0 0 0.00874 0 0 KCNA4 3739 broad.mit.edu 37 11 30033093 30033093 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:30033093C>G uc001msk.2 - 2 2285 c.1133G>C c.(1132-1134)TGT>TCT p.C378S NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 378 Helical; Name=Segment S2; (Potential). voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CCATACAATACAGACTGTTTC 0.458 NA 43 72 0 0 0.009718 0 0 C11orf41 25758 broad.mit.edu 37 11 33581407 33581407 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:33581407C>T uc001mup.3 + 6 3219 c.3095C>T c.(3094-3096)GCT>GTT p.A1032V C11orf41_uc001mun.1_Missense_Mutation_p.A1032V NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 1026 integral to membrane ovary(2) 2 CAGCTCTCGGCTGAGCTGGTG 0.592 NA 73 205 0 0 0.00361 0 0 FJX1 24147 broad.mit.edu 37 11 35640940 35640940 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:35640940G>T uc001mwh.2 + 1 1206 c.756G>T c.(754-756)GTG>GTT p.V252V NM_014344 NP_055159 Q86VR8 FJX1_HUMAN four jointed box 1 precursor 252 extracellular space 0 all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739) all_hematologic(20;0.107) TCACGGACGTGGTGGTGCCCG 0.746 Melanoma(161;10 2587 27165 47356) NA 10 19 1.33987e-11 1.55026e-11 0.008291 1 0 ACCS 84680 broad.mit.edu 37 11 44104832 44104832 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:44104832G>T uc009yks.1 + 13 1369 c.1225G>T c.(1225-1227)GGC>TGC p.G409C EXT2_uc010rfo.1_Intron|ACCS_uc001mxx.2_Missense_Mutation_p.G409C NM_001127219 NP_001120691 Q96QU6 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase 409 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups breast(2)|ovary(1)|lung(1) 4 TCGTGGGGCTGGCTTCTTCAT 0.582 Esophageal Squamous(158;148 1889 8077 23160 41213) NA 32 89 1.06801e-11 1.23718e-11 0.009535 1 0 PEX16 9409 broad.mit.edu 37 11 45937052 45937052 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:45937052G>A uc001nbu.2 - 5 739 c.427C>T c.(427-429)CCA>TCA p.P143S PEX16_uc001nbt.2_Missense_Mutation_p.P143S NM_004813 NP_004804 Q9Y5Y5 PEX16_HUMAN peroxisomal biogenesis factor 16 isoform 1 143 Cytoplasmic (Potential). ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane endoplasmic reticulum membrane|integral to peroxisomal membrane protein C-terminus binding ovary(2)|skin(1) 3 GBM - Glioblastoma multiforme(35;0.223) CTGTCCAGTGGAACGATAGGG 0.602 NA 44 72 0 0 0.013114 0 0 RAPSN 5913 broad.mit.edu 37 11 47463472 47463472 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:47463472T>A uc001nfi.1 - 4 906 c.692A>T c.(691-693)GAG>GTG p.E231V RAPSN_uc001nfj.1_Missense_Mutation_p.E231V|RAPSN_uc009yls.1_Missense_Mutation_p.E231V NM_005055 NP_005046 Q13702 RAPSN_HUMAN 43 kD receptor-associated protein of the synapse 231 TPR 5. synaptic transmission, cholinergic cell junction|cytoskeleton|postsynaptic membrane acetylcholine receptor binding|zinc ion binding ovary(1) 1 CTTCATAGACTCCTGCGAGGG 0.662 NA 7 12 0 0 0.001984 0 0 NUP160 23279 broad.mit.edu 37 11 47857258 47857258 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:47857258G>C uc001ngm.2 - 7 1131 c.1046C>G c.(1045-1047)TCC>TGC p.S349C NUP160_uc009ylw.2_RNA NM_015231 NP_056046 Q12769 NU160_HUMAN nucleoporin 160kDa 349 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 CATGGTGGGGGAATAAGCAAG 0.458 NA 45 79 0 0 0.00361 0 0 OR4C3 256144 broad.mit.edu 37 11 48347244 48347244 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:48347244G>T uc010rhv.1 + 1 752 c.752G>T c.(751-753)AGG>ATG p.R251M NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, 224 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TACTCCTTGAGGTCCCACAGT 0.488 NA 34 106 3.67414e-24 4.90553e-24 0.012213 1 0 OR5D14 219436 broad.mit.edu 37 11 55563103 55563104 + Missense_Mutation DNP GC GC TT TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:55563103_55563104GC>TT uc010rim.1 + 1 72_73 c.72_73GC>TT c.(70-75)AAGCTT>AATTTT p.24_25KL>NF NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 24_25 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) ATTACCCAAAGCTTCAGATTCC 0.391 NA 56 102 0 0 0.004672 0 0 OR5L1 219437 broad.mit.edu 37 11 55579401 55579401 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:55579401G>T uc001nhw.1 + 1 459 c.459G>T c.(457-459)ACG>ACT p.T153T NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 153 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) TCTGTGGGACGGTGTGTTCTC 0.458 NA 31 246 8.88839e-20 1.12978e-19 0.010818 1 0 OR5D18 219438 broad.mit.edu 37 11 55587802 55587802 + Missense_Mutation SNP A A T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:55587802A>T uc010rin.1 + 1 697 c.697A>T c.(697-699)AGT>TGT p.S233C NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 233 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) GCGTTCAGTCAGTGGGCGCCG 0.493 NA 70 78 0 0 0.00361 0 0 OR5L2 26338 broad.mit.edu 37 11 55595399 55595399 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:55595399C>A uc001nhy.1 + 1 705 c.705C>A c.(703-705)CAC>CAA p.H235Q NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 235 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) AGAGCAGGCACAAAGCTTTCT 0.493 NA HNSCC(27;0.073) 68 99 2.19297e-23 2.91207e-23 0.00361 1 0 SPRYD5 84767 broad.mit.edu 37 11 55658693 55658693 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:55658693C>A uc010rip.1 + 7 1036 c.944C>A c.(943-945)CCT>CAT p.P315H SPRYD5_uc010riq.1_Missense_Mutation_p.P172H NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 315 B30.2/SPRY. intracellular zinc ion binding 0 all_epithelial(135;0.226) GGATGTGACCCTCAAGATGAT 0.408 NA 47 144 1.81118e-26 2.4618e-26 0.00361 1 0 OR5I1 10798 broad.mit.edu 37 11 55703105 55703105 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:55703105G>T uc010ris.1 - 1 772 c.772C>A c.(772-774)CTC>ATC p.L258I NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 258 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TAAATAAAGAGGAGAGTCCCT 0.443 NA 10 36 0.00010058 0.000104748 0.001368 1 0 OR8H2 390151 broad.mit.edu 37 11 55873187 55873187 + Silent SNP T T C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:55873187T>C uc010riy.1 + 1 669 c.669T>C c.(667-669)TTT>TTC p.F223F NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 223 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) TCATTCTCTTTACCATCCTGA 0.393 NA HNSCC(53;0.14) 8 175 0 0 0.00308 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57088056 57088056 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:57088056C>A uc001njr.2 - 2 537 c.225G>T c.(223-225)TTG>TTT p.L75F TNKS1BP1_uc001njs.2_Missense_Mutation_p.L75F|TNKS1BP1_uc009ymd.1_5'UTR NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 75 Arg/Glu/Lys/Pro-rich (charged). nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) TGGCAGAAGGCAACTCAGCCA 0.677 NA 32 40 4.74835e-14 5.63364e-14 0.010818 1 0 SMTNL1 219537 broad.mit.edu 37 11 57309022 57309023 + Missense_Mutation DNP CC CC AA TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:57309022_57309023CC>AA uc009ymh.1 + 1 44_45 c.44_45CC>AA c.(43-45)GCC>GAA p.A15E NM_001105565 NP_001099035 E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ovary(1) 1 TCAGCAGAGGCCAGGGAGAGTA 0.51 NA 53 138 0 0 0.004672 0 0 OR4D10 390197 broad.mit.edu 37 11 59245074 59245074 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:59245074C>A uc001nnz.1 + 1 172 c.172C>A c.(172-174)CCC>ACC p.P58T NM_001004705 NP_001004705 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, 58 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 CCTTCACACGCCCATGTATTT 0.433 NA 116 247 4.94232e-47 7.41726e-47 0.00361 1 0 OR4D11 219986 broad.mit.edu 37 11 59271114 59271114 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:59271114C>G uc001noa.1 + 1 66 c.66C>G c.(64-66)GAC>GAG p.D22E NM_001004706 NP_001004706 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AATCCCAAGACCAGAGTTTGG 0.413 NA 43 113 0 0 0.006999 0 0 INCENP 3619 broad.mit.edu 37 11 61897893 61897893 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:61897893G>A uc001nsw.1 + 4 1096 c.894G>A c.(892-894)ACG>ACA p.T298T INCENP_uc009ynv.2_Silent_p.T298T|INCENP_uc009ynw.1_Silent_p.T298T|INCENP_uc001nsx.1_Silent_p.T298T NM_001040694 NP_001035784 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 298 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding lung(1) 1 GCTCTCGCACGGACTCTCAAT 0.632 NA 119 123 0 0 0.00361 0 0 SLC22A12 116085 broad.mit.edu 37 11 64359265 64359265 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:64359265G>T uc001oam.1 + 1 984 c.237G>T c.(235-237)CCG>CCT p.P79P SLC22A12_uc009ypr.1_Silent_p.P79P|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Silent_p.P79P|SLC22A12_uc001oan.1_Silent_p.P79P|SLC22A12_uc009ypt.2_5'Flank NM_144585 NP_653186 Q96S37 S22AC_HUMAN urate anion exchanger 1 isoform a 79 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity ovary(1) 1 CCATCCCGCCGGGCCCCAACC 0.687 NA 11 79 5.16669e-11 5.92205e-11 0.010729 1 0 TM7SF2 7108 broad.mit.edu 37 11 64882807 64882807 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:64882807G>T uc001oct.2 + 8 1061 c.914G>T c.(913-915)CGT>CTT p.R305L TM7SF2_uc010rny.1_Missense_Mutation_p.R189L|TM7SF2_uc001ocu.2_Intron|TM7SF2_uc001ocv.2_Missense_Mutation_p.R326L|uc009yqb.1_5'Flank NM_003273 NP_003264 O76062 ERG24_HUMAN transmembrane 7 superfamily member 2 305 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane delta14-sterol reductase activity ovary(1) 1 TACATCTTCCGTGGGGCGAAT 0.557 NA 21 219 3.62473e-10 4.12093e-10 0.012319 1 0 SPTBN2 6712 broad.mit.edu 37 11 66460452 66460452 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:66460452C>A uc001ojd.2 - 24 5046 c.4974G>T c.(4972-4974)GAG>GAT p.E1658D NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1658 Spectrin 13. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 TCTCTGGGTGCTCGTGGTCAA 0.657 NA 542 206 4.45376e-183 7.07404e-183 0.00361 1 0 MOGAT2 80168 broad.mit.edu 37 11 75438495 75438495 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:75438495G>C uc010rru.1 + 3 286 c.286G>C c.(286-288)GAG>CAG p.E96Q MOGAT2_uc001oww.1_Missense_Mutation_p.E96Q|MOGAT2_uc010rrv.1_Missense_Mutation_p.E14Q NM_025098 NP_079374 Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 96 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity ovary(2) 2 Ovarian(111;0.103) CAAGACTGCTGAGCTGGACCC 0.418 NA 6 69 0 0 0.004482 0 0 GAB2 9846 broad.mit.edu 37 11 77934641 77934641 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:77934641G>T uc001ozh.2 - 6 1384 c.1384C>A c.(1384-1386)CTG>ATG p.L462M GAB2_uc001ozg.2_Missense_Mutation_p.L424M NM_080491 NP_536739 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 isoform a 462 osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity ovary(5)|lung(1) 6 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) ATGGCCAACAGGGTGGAAGAA 0.522 NA 97 307 5.25376e-55 8.00729e-55 0.00361 1 0 RAB30 27314 broad.mit.edu 37 11 82705138 82705138 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:82705138G>A uc001ozu.2 - 4 381 c.120C>T c.(118-120)GCC>GCT p.A40A RAB30_uc009yve.2_Silent_p.A38A|RAB30_uc010rst.1_Silent_p.A38A|RAB30_uc001ozv.2_Silent_p.A38A|RAB30_uc009yvg.1_Intron NM_014488 NP_055303 Q15771 RAB30_HUMAN RAB30, member RAS oncogene family 40 Effector region (By similarity). protein transport|small GTPase mediated signal transduction Golgi stack|plasma membrane GTP binding|GTPase activity 0 CTCCAATTGTGGCTCCTTGAC 0.378 NA 49 86 0 0 0.00361 0 0 TYR 7299 broad.mit.edu 37 11 88961012 88961012 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:88961012G>T uc001pcs.2 + 3 1140 c.1058G>T c.(1057-1059)GGG>GTG p.G353V NM_000372 NP_000363 P14679 TYRO_HUMAN tyrosinase precursor 353 Lumenal, melanosome (Potential). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) CCACTTACTGGGATAGCGGAT 0.373 NA Oculocutaneous_Albinism 27 54 2.41591e-17 3.0122e-17 0.004656 1 0 CNTN5 53942 broad.mit.edu 37 11 99715877 99715877 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:99715877G>T uc001pga.2 + 6 799 c.460G>T c.(460-462)GAT>TAT p.D154Y CNTN5_uc009ywv.1_Missense_Mutation_p.D154Y|CNTN5_uc001pfz.2_Missense_Mutation_p.D154Y|CNTN5_uc001pgb.2_Missense_Mutation_p.D80Y NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 154 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CAGTTTGATAGATGGCACCTT 0.383 NA 34 99 6.50621e-10 7.36269e-10 0.002836 1 0 GUCY1A2 2977 broad.mit.edu 37 11 106810187 106810187 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:106810187T>A uc001pjg.1 - 4 1595 c.1205A>T c.(1204-1206)AAG>ATG p.K402M GUCY1A2_uc010rvo.1_Missense_Mutation_p.K402M|GUCY1A2_uc009yxn.1_Missense_Mutation_p.K402M NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 402 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) AGCACTTACCTTGTCTTTATT 0.423 NA 29 137 0 0 0.009535 0 0 EXPH5 23086 broad.mit.edu 37 11 108380380 108380380 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:108380380G>C uc001pkk.2 - 6 5965 c.5854C>G c.(5854-5856)CCA>GCA p.P1952A EXPH5_uc010rvy.1_Missense_Mutation_p.P1764A|EXPH5_uc010rvz.1_Missense_Mutation_p.P1796A|EXPH5_uc010rwa.1_Missense_Mutation_p.P1876A NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 1952 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) GGTTCACTTGGAGATAAGCCA 0.448 NA 9 123 0 0 0.004482 0 0 NCAM1 4684 broad.mit.edu 37 11 113103515 113103515 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:113103515G>A uc009yyq.1 + 13 1919 c.1225G>A c.(1225-1227)GAA>AAA p.E409K NM_001076682 NP_001070150 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 isoform 3 501 Ig-like C2-type 5.|Extracellular (Potential). axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane ovary(1) 1 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) GGAGTCCTTGGAATTCATCCT 0.502 NA 20 60 0 0 0.007413 0 0 HTR3B 9177 broad.mit.edu 37 11 113780085 113780085 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:113780085C>A uc001pok.2 + 2 188 c.121C>A c.(121-123)CAG>AAG p.Q41K HTR3B_uc001pol.2_Missense_Mutation_p.Q30K NM_006028 NP_006019 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B 41 Extracellular (Potential). synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) GCAGCTATTACAGAAATATCA 0.418 NA 23 98 1.10923e-09 1.24519e-09 0.00278 1 0 DSCAML1 57453 broad.mit.edu 37 11 117389416 117389416 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:117389416G>T uc001prh.1 - 7 1457 c.1455C>A c.(1453-1455)TTC>TTA p.F485L DSCAML1_uc001pri.1_Missense_Mutation_p.F289L NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 425 Extracellular (Potential).|Ig-like C2-type 5. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) ACATCAGTGAGAACTGCTCCC 0.677 NA 11 45 9.70103e-10 1.09276e-09 0.008291 1 0 MPZL3 196264 broad.mit.edu 37 11 118122970 118122970 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:118122970G>A uc001psm.2 - 1 42 c.40C>T c.(40-42)CTC>TTC p.L14F MPZL3_uc010rxy.1_Missense_Mutation_p.L14F|MPZL3_uc010rxz.1_RNA|MPZL3_uc009yzy.2_RNA NM_198275 NP_938016 Q6UWV2 MPZL3_HUMAN myelin protein zero-like 3 precursor 14 cell adhesion integral to membrane 0 all_hematologic(175;0.046) Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) AGAGGGAAGAGAGCGCAGCCA 0.612 NA 11 137 0 0 0.001368 0 0 BCL9L 283149 broad.mit.edu 37 11 118773142 118773142 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:118773142C>A uc001pug.2 - 6 2275 c.1310G>T c.(1309-1311)GGA>GTA p.G437V BCL9L_uc009zal.2_Missense_Mutation_p.G432V NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 437 Pro-rich.|Necessary for interaction with CTNNB1 (By similarity). negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity ovary(1)|pancreas(1) 2 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) CTCACCCGCTCCTCCTGGGGG 0.682 NA 22 35 1.87028e-06 1.99877e-06 0.012319 1 0 C11orf63 79864 broad.mit.edu 37 11 122830098 122830098 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:122830098G>C uc001pym.2 + 9 2579 c.2282G>C c.(2281-2283)AGA>ACA p.R761T NM_024806 NP_079082 Q6NUN7 CK063_HUMAN hypothetical protein LOC79864 isoform 1 761 ovary(3) 3 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) CTGCAGAACAGACACGAAAGG 0.408 NA 3 67 0 0 0.004672 0 0 OR8D1 283159 broad.mit.edu 37 11 124179778 124179778 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:124179778C>A uc010sag.1 - 1 885 c.885G>T c.(883-885)AAG>AAT p.K295N NM_001002917 NP_001002917 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, 295 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) TCTTCACATCCTTATTCCTCA 0.418 NA 23 80 1.87028e-06 1.99877e-06 0.012319 1 0 OR8D1 283159 broad.mit.edu 37 11 124180649 124180649 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:124180649T>A uc010sag.1 - 1 14 c.14A>T c.(13-15)AAT>ATT p.N5I NM_001002917 NP_001002917 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, 5 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) CATAGAATAATTTTCCATGGT 0.418 NA 15 108 0 0 0.004007 0 0 OR8B4 283162 broad.mit.edu 37 11 124294248 124294248 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:124294248C>A uc010sak.1 - 1 520 c.520G>T c.(520-522)GAC>TAC p.D174Y NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, 174 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) AGATAATGGTCAATGACGTTG 0.502 NA 14 26 9.31168e-06 9.82287e-06 0.001855 1 0 ROBO4 54538 broad.mit.edu 37 11 124763875 124763875 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:124763875C>T uc001qbg.2 - 9 1525 c.1385G>A c.(1384-1386)AGG>AAG p.R462K ROBO4_uc010sas.1_Missense_Mutation_p.R317K|ROBO4_uc001qbh.2_Missense_Mutation_p.R352K|ROBO4_uc001qbi.2_Missense_Mutation_p.R20K|ROBO4_uc010sat.1_Missense_Mutation_p.R20K NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 462 angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CAAGGTAGCCCTCAGCTGCTC 0.642 NA 6 16 0 0 0.001168 0 0 HEPACAM 220296 broad.mit.edu 37 11 124793277 124793277 + Silent SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:124793277C>A uc001qbk.2 - 4 1168 c.762G>T c.(760-762)GTG>GTT p.V254V HEPACAM_uc009zbj.2_5'UTR|HEPACAM_uc001qbl.1_Silent_p.V254V NM_152722 NP_689935 Q14CZ8 HECAM_HUMAN hepatocyte cell adhesion molecule precursor 254 Helical; (Potential). cell adhesion|cell cycle arrest|regulation of growth cytoplasm|integral to membrane pancreas(1) 1 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) TCACCAAGGTCACAAGGAGGA 0.522 NA 73 112 4.37588e-27 6.02298e-27 0.00361 1 0 NTM 50863 broad.mit.edu 37 11 132204977 132204977 + Silent SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:132204977G>C uc001qgp.2 + 7 1636 c.972G>C c.(970-972)TCG>TCC p.S324S NTM_uc001qgm.2_Silent_p.S324S|NTM_uc010sch.1_Silent_p.S326S|NTM_uc010sci.1_Silent_p.S335S|NTM_uc010scj.1_Silent_p.S283S|NTM_uc001qgq.2_Silent_p.S335S|NTM_uc001qgr.2_Silent_p.S106S NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 324 cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 ACGGCACGTCGAGGAGGGCAG 0.607 NA 36 162 0 0 0.006999 0 0 OPCML 4978 broad.mit.edu 37 11 132399049 132399049 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:132399049G>A uc001qgs.2 - 3 482 c.432C>T c.(430-432)GAC>GAT p.D144D OPCML_uc001qgu.2_Silent_p.D137D|OPCML_uc010sck.1_Silent_p.D144D|OPCML_uc001qgt.2_Silent_p.D144D|OPCML_uc010scl.1_Silent_p.D103D NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 144 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity ovary(2)|skin(1) 3 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) TCACAGTGATGTCTGAGGAGA 0.453 NA 17 47 0 0 0.004007 0 0 ACAD8 27034 broad.mit.edu 37 11 134132438 134132438 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:134132438C>T uc001qhk.2 + 10 1178 c.1117C>T c.(1117-1119)CAC>TAC p.H373Y ACAD8_uc010scp.1_RNA|ACAD8_uc010scq.1_Missense_Mutation_p.H296Y|ACAD8_uc001qhl.2_Missense_Mutation_p.H246Y NM_014384 NP_055199 Q9UKU7 ACAD8_HUMAN acyl-Coenzyme A dehydrogenase family, member 8 373 FAD; shared with dimeric partner. branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding 0 all_hematologic(175;0.127) all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559) Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21) CTTGCAGATGCACGGGGGCTA 0.552 GBM(65;238 1125 33403 41853 48889) NA OREG0021549 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 28 0 0 0.006122 0 0 SCNN1A 6337 broad.mit.edu 37 12 6457372 6457372 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr12:6457372G>A uc001qnx.2 - 13 1966 c.1677C>T c.(1675-1677)TTC>TTT p.F559F SCNN1A_uc001qnv.2_Silent_p.F259F|SCNN1A_uc001qnw.2_Silent_p.F618F|SCNN1A_uc010sfb.1_Silent_p.F582F NM_001038 NP_001029 P37088 SCNNA_HUMAN sodium channel, nonvoltage-gated 1 alpha isoform 559 Helical; (By similarity). excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding 0 Amiloride(DB00594)|Triamterene(DB00384) CCGAGGAGCCGAACCACAGGC 0.567 NA 23 117 0 0 0.00333 0 0 NCAPD2 9918 broad.mit.edu 37 12 6635486 6635486 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr12:6635486C>T uc001qoo.2 + 20 2561 c.2515C>T c.(2515-2517)CTG>TTG p.L839L NCAPD2_uc009zen.1_Silent_p.L711L|NCAPD2_uc010sfd.1_Silent_p.L794L NM_014865 NP_055680 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 839 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding ovary(2)|lung(1)|breast(1)|kidney(1) 5 CCCCTTCCGGCTGCCTCAGGA 0.562 NA 80 48 0 0 0.00361 0 0 DUSP16 80824 broad.mit.edu 37 12 12629939 12629939 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr12:12629939G>A uc001rao.1 - 7 2458 c.1826C>T c.(1825-1827)TCG>TTG p.S609L DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.S461L NM_030640 NP_085143 Q9BY84 DUS16_HUMAN dual specificity phosphatase 16 609 inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive cytoplasmic membrane-bounded vesicle|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) GCTCCGCCGCGAGTCAGCTCT 0.542 Ovarian(158;443 1896 15437 36069 46477) NA 12 216 0 0 0.010729 0 0 PLCZ1 89869 broad.mit.edu 37 12 18889244 18889244 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr12:18889244C>A uc010sid.1 - 3 237 c.46G>T c.(46-48)GGT>TGT p.G16C PLCZ1_uc001rdv.3_Translation_Start_Site|PLCZ1_uc001rdw.3_Translation_Start_Site|CAPZA3_uc001rdy.2_5'Flank NM_033123 NP_149114 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 16 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) ATTTTTCCACCTCTGAAGTCA 0.303 NA 14 46 0.000219431 0.0002278 0.00245 1 0 SOX5 6660 broad.mit.edu 37 12 23757416 23757416 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr12:23757416G>C uc001rfw.2 - 9 1171 c.1069C>G c.(1069-1071)CTG>GTG p.L357V SOX5_uc001rfx.2_Missense_Mutation_p.L344V|SOX5_uc001rfy.2_Missense_Mutation_p.L344V|SOX5_uc010siv.1_Missense_Mutation_p.L344V|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.L309V NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 357 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 ATGCCTGGCAGCTTCCCTCCT 0.488 NA 31 74 0 0 0.004878 0 0 OVCH1 341350 broad.mit.edu 37 12 29649551 29649551 + Missense_Mutation SNP A A C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr12:29649551A>C uc001rix.1 - 2 121 c.121T>G c.(121-123)TCT>GCT p.S41A NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 41 Peptidase S1 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) AAGAATCTAGATCCCACGGCA 0.428 NA 78 104 0 0 0.00361 0 0 PFKM 5213 broad.mit.edu 37 12 48527166 48527166 + Missense_Mutation SNP G G A rs150522604 TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr12:48527166G>A uc001rrc.2 + 6 666 c.496G>A c.(496-498)GAC>AAC p.D166N PFKM_uc001rra.1_5'UTR|PFKM_uc001rrb.1_Missense_Mutation_p.D237N|PFKM_uc001rrd.2_5'UTR|PFKM_uc001rre.1_Missense_Mutation_p.D166N|PFKM_uc001rrg.1_Missense_Mutation_p.D166N NM_000289 NP_000280 P08237 K6PF_HUMAN phosphofructokinase, muscle 166 Proton acceptor (By similarity). fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 TGGGTCAATTGACAATGACTT 0.507 NA 33 91 0 0 0.010818 0 0 PRPH 5630 broad.mit.edu 37 12 49691154 49691154 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr12:49691154C>T uc001rtu.2 + 6 1086 c.1011C>T c.(1009-1011)CTC>CTT p.L337L NM_006262 NP_006253 P41219 PERI_HUMAN peripherin 337 Coil 2.|Rod. structural molecule activity 0 AGGCGCTGCTCAGGCAGTTGA 0.662 NA OREG0021790 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 52 0 0 0.001984 0 0 KRT75 9119 broad.mit.edu 37 12 52827609 52827609 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr12:52827609G>A uc001saj.2 - 1 502 c.480C>T c.(478-480)TTC>TTT p.F160F NM_004693 NP_004684 O95678 K2C75_HUMAN keratin 75 160 Coil 1A.|Rod. keratin filament structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.192) TGAAGGAGGCGAACTTATTGT 0.562 NA 28 190 0 0 0.010818 0 0 KRT3 3850 broad.mit.edu 37 12 53186142 53186142 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr12:53186142G>C uc001say.2 - 5 1135 c.1069C>G c.(1069-1071)CTG>GTG p.L357V NM_057088 NP_476429 P12035 K2C3_HUMAN keratin 3 357 Rod.|Linker 12. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity 0 TCCATGGACAGCACCACAGAT 0.512 NA 29 29 0 0 0.005524 0 0 CAND1 55832 broad.mit.edu 37 12 67696224 67696224 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr12:67696224C>T uc001stn.2 + 8 1559 c.1122C>T c.(1120-1122)ACC>ACT p.T374T CAND1_uc001sto.2_Silent_p.T52T NM_018448 NP_060918 Q86VP6 CAND1_HUMAN TIP120 protein 374 HEAT 9. cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) TCTACAAGACCGTCTCTCCTG 0.433 NA 87 53 0 0 0.00361 0 0 YEATS4 8089 broad.mit.edu 37 12 69759413 69759413 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr12:69759413G>C uc001sux.2 + 3 393 c.172G>C c.(172-174)GAT>CAT p.D58H NM_006530 NP_006521 O95619 YETS4_HUMAN glioma-amplified sequence-41 58 YEATS. histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth NuA4 histone acetyltransferase complex|nuclear matrix DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton 0 all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241) TATATTTTAGGATATGTCAGC 0.269 NA 54 37 0 0 0.00361 0 0 LRRC10 376132 broad.mit.edu 37 12 70003877 70003877 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr12:70003877C>T uc001svc.2 - 1 1066 c.742G>A c.(742-744)GAC>AAC p.D248N NM_201550 NP_963844 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 248 nucleus 0 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) TTTCTAGGGTCGGGCTCTGGC 0.587 NA 24 57 0 0 0.00333 0 0 PTPRR 5801 broad.mit.edu 37 12 71092123 71092123 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr12:71092123G>T uc001swi.1 - 8 1617 c.1201C>A c.(1201-1203)CCA>ACA p.P401T PTPRR_uc001swh.1_Missense_Mutation_p.P156T|PTPRR_uc009zrs.2_Missense_Mutation_p.P250T|PTPRR_uc010stq.1_Missense_Mutation_p.P289T|PTPRR_uc010str.1_Missense_Mutation_p.P250T NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 401 Tyrosine-protein phosphatase.|Cytoplasmic (Potential). in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) AAGTTCATTGGTATTTCCTGC 0.338 NA 43 17 2.35958e-20 3.03464e-20 0.009718 1 0 NAV3 89795 broad.mit.edu 37 12 78515788 78515788 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr12:78515788C>T uc001syp.2 + 16 3991 c.3818C>T c.(3817-3819)TCA>TTA p.S1273L NAV3_uc001syo.2_Missense_Mutation_p.S1273L|NAV3_uc010sub.1_Missense_Mutation_p.S773L|NAV3_uc009zsf.2_Intron NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1273 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 AAATCTTCCTCAGTAATGCCC 0.527 NA HNSCC(70;0.22) 7 62 0 0 0.001984 0 0 MGAT4C 25834 broad.mit.edu 37 12 86374139 86374139 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr12:86374139G>A uc001tai.3 - 8 1615 c.365C>T c.(364-366)TCA>TTA p.S122L MGAT4C_uc001tal.3_Missense_Mutation_p.S122L|MGAT4C_uc001taj.3_Missense_Mutation_p.S122L|MGAT4C_uc001tak.3_Missense_Mutation_p.S122L|MGAT4C_uc010sum.1_Missense_Mutation_p.S146L|MGAT4C_uc001tah.3_Missense_Mutation_p.S122L NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN alpha-1,3-mannosyl-glycoprotein 122 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(3) 3 CTCAAAAATTGACTTAATTGT 0.373 NA 10 52 0 0 0.006214 0 0 EPYC 1833 broad.mit.edu 37 12 91371958 91371958 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr12:91371958C>T uc001tbk.2 - 3 340 c.247G>A c.(247-249)GAA>AAA p.E83K NM_004950 NP_004941 Q99645 EPYC_HUMAN dermatan sulfate proteoglycan 3 precursor 83 Poly-Glu. female pregnancy proteinaceous extracellular matrix glycosaminoglycan binding skin(1) 1 TCCTCCTCTTCCTCTTCCTGG 0.507 NA OREG0022019 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 117 0 0 0.004007 0 0 CCDC41 51134 broad.mit.edu 37 12 94763742 94763742 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr12:94763742C>G uc001tdd.2 - 9 1590 c.1004G>C c.(1003-1005)AGT>ACT p.S335T CCDC41_uc001tde.2_Missense_Mutation_p.S335T|CCDC41_uc009zsw.1_RNA|CCDC41_uc001tdf.2_Missense_Mutation_p.S335T NM_016122 NP_057206 Q9Y592 CCD41_HUMAN NY-REN-58 antigen 327 Potential. 0 TTCTAGCTCACTCTTAGCTCT 0.348 NA 23 225 0 0 0.003954 0 0 MYBPC1 4604 broad.mit.edu 37 12 102074275 102074275 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr12:102074275C>A uc001tii.2 + 28 3482 c.3380C>A c.(3379-3381)ACA>AAA p.T1127K MYBPC1_uc001tig.2_Missense_Mutation_p.T1134K|MYBPC1_uc010svq.1_Missense_Mutation_p.T1096K|MYBPC1_uc001tih.2_Missense_Mutation_p.T1134K|MYBPC1_uc001tij.2_Missense_Mutation_p.T1109K|MYBPC1_uc010svr.1_Missense_Mutation_p.T1109K|MYBPC1_uc010svs.1_Missense_Mutation_p.T1127K|MYBPC1_uc010svt.1_Missense_Mutation_p.T1097K|MYBPC1_uc010svu.1_Missense_Mutation_p.T1090K|MYBPC1_uc001tik.2_Missense_Mutation_p.T1083K|MYBPC1_uc001til.2_Missense_Mutation_p.T152K|MYBPC1_uc001tim.2_Missense_Mutation_p.T152K NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 1127 Ig-like C2-type 7. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 GACCTTGGGACAGTGGAGATT 0.433 NA 49 40 1.48341e-19 1.88065e-19 0.00361 1 0 FOXN4 121643 broad.mit.edu 37 12 109723185 109723185 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr12:109723185G>C uc001toe.3 - 8 930 c.825C>G c.(823-825)ATC>ATG p.I275M FOXN4_uc009zvg.2_Missense_Mutation_p.I72M|FOXN4_uc001tof.3_Missense_Mutation_p.I95M NM_213596 NP_998761 Q96NZ1 FOXN4_HUMAN forkhead box N4 275 Fork-head. axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(1)|lung(1) 2 CCATCTTGTCGATGCGGGCCA 0.612 NA 10 37 0 0 0.006214 0 0 MYL2 4633 broad.mit.edu 37 12 111353570 111353570 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr12:111353570T>A uc001try.3 - 3 189 c.118A>T c.(118-120)AGG>TGG p.R40W MYL2_uc001trx.3_Missense_Mutation_p.R21W NM_000432 NP_000423 P10916 MLRV_HUMAN slow cardiac myosin regulatory light chain 2 40 |EF-hand 1. cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis cytosol|myosin complex|sarcomere actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle ovary(1) 1 AAGCCATCCCTGTTCTGGTCC 0.522 GBM(14;268 426 18829 21617 25540) NA 121 79 0 0 0.00361 0 0 CUX2 23316 broad.mit.edu 37 12 111779639 111779639 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr12:111779639G>T uc001tsa.1 + 21 3594 c.3441G>T c.(3439-3441)CCG>CCT p.P1147P NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 1147 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 GTGAGTCCCCGGCCACCCGCT 0.667 NA 69 36 3.07281e-33 4.37062e-33 0.00361 1 0 PTPN11 5781 broad.mit.edu 37 12 112888228 112888228 + Missense_Mutation SNP A A G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr12:112888228A>G uc001ttx.2 + 3 624 c.244A>G c.(244-246)ATG>GTG p.M82V PTPN11_uc001ttw.1_Missense_Mutation_p.M82V NM_002834 NP_002825 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 82 SH2 1. axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1) 392 CCAGTATTACATGGAACATCA 0.428 NA Mis JMML|AML|MDS Noonan Syndrome Noonan_syndrome 78 54 0 0 0.00361 0 0 RIMBP2 23504 broad.mit.edu 37 12 130926751 130926751 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr12:130926751G>T uc001uil.2 - 8 1259 c.1095C>A c.(1093-1095)CGC>CGA p.R365R RIMBP2_uc001uim.2_Silent_p.R273R|RIMBP2_uc001uin.1_Silent_p.R24R NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 365 Fibronectin type-III 1. cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GCACGGAGATGCGGTAGGTGC 0.632 NA 66 23 4.45325e-31 6.22566e-31 0.00361 1 0 POLE 5426 broad.mit.edu 37 12 133208909 133208909 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr12:133208909C>A uc001uks.1 - 45 6366 c.6322G>T c.(6322-6324)GTG>TTG p.V2108L POLE_uc001ukq.1_Missense_Mutation_p.V318L|POLE_uc001ukr.1_Missense_Mutation_p.V912L|POLE_uc010tbq.1_RNA NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 2108 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) ACCTTGCACACGTATTTGATG 0.532 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 42 23 1.07121e-22 1.411e-22 0.006999 1 0 MIPEP 4285 broad.mit.edu 37 13 24415543 24415543 + Silent SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr13:24415543C>A uc001uox.3 - 11 1291 c.1191G>T c.(1189-1191)CTG>CTT p.L397L NM_005932 NP_005923 Q99797 MIPEP_HUMAN mitochondrial intermediate peptidase precursor 397 protein processing involved in protein targeting to mitochondrion|proteolysis mitochondrial matrix metal ion binding|metalloendopeptidase activity central_nervous_system(1) 1 all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14) all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232) AAATCCCCAACAGTCTGTTAA 0.473 NA 19 28 1.64113e-05 1.71828e-05 0.010504 1 0 ATP8A2 51761 broad.mit.edu 37 13 26116178 26116178 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr13:26116178G>A uc001uqk.2 + 9 915 c.773G>A c.(772-774)GGG>GAG p.G258E ATP8A2_uc010tdi.1_Missense_Mutation_p.G218E|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Missense_Mutation_p.G218E NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 218 Cytoplasmic (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) AACTTAGATGGGAAAAGGTAT 0.363 NA 15 32 0 0 0.00499 0 0 C13orf33 84935 broad.mit.edu 37 13 31495911 31495911 + Silent SNP C C T rs138341583 TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr13:31495911C>T uc001uth.3 + 4 1056 c.715C>T c.(715-717)CTG>TTG p.L239L uc001utg.1_Intron NM_032849 NP_116238 Q5VYS4 CM033_HUMAN hypothetical protein LOC84935 239 0 Lung SC(185;0.0281) all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244) TAAGTTATTTCTGGAAAAAAT 0.373 NA 17 59 0 0 0.007413 0 0 FRY 10129 broad.mit.edu 37 13 32811588 32811588 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr13:32811588G>A uc001utx.2 + 44 6379 c.5883G>A c.(5881-5883)ATG>ATA p.M1961I FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 1961 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) AACTAAACATGAACCCGGGAA 0.478 NA 5 112 0 0 0.001168 0 0 NBEA 26960 broad.mit.edu 37 13 35683448 35683448 + Missense_Mutation SNP A A G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr13:35683448A>G uc001uvb.2 + 13 1908 c.1702A>G c.(1702-1704)AGA>GGA p.R568G NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 568 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TCATATAACTAGAGCTGTCCT 0.328 NA 31 123 0 0 0.003271 0 0 EPSTI1 94240 broad.mit.edu 37 13 43469156 43469156 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr13:43469156C>T uc001uyw.1 - 11 1013 c.937G>A c.(937-939)GGT>AGT p.G313S EPSTI1_uc001uyx.1_Missense_Mutation_p.G302S NM_001002264 NP_001002264 Q96J88 ESIP1_HUMAN epithelial stromal interaction 1 isoform 1 313 ovary(1) 1 Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858) CAGCTGTTACCGCTATTCATA 0.378 NA 19 75 0 0 0.010504 0 0 C13orf31 144811 broad.mit.edu 37 13 44455682 44455682 + Silent SNP A A T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr13:44455682A>T uc010acg.2 + 2 1046 c.561A>T c.(559-561)CCA>CCT p.P187P CCDC122_uc010acf.2_5'Flank|C13orf31_uc001uzf.3_Silent_p.P187P NM_001128303 NP_001121775 Q8IV20 CM031_HUMAN hypothetical protein LOC144811 187 0 Lung NSC(96;0.000163)|all_hematologic(4;0.0127)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Breast(139;0.0364)|Lung SC(185;0.0367)|Acute lymphoblastic leukemia(4;0.138) GBM - Glioblastoma multiforme(144;0.000573)|BRCA - Breast invasive adenocarcinoma(63;0.121) CTTTGATCCCAGGTATATTAA 0.343 NA 23 56 0 0 0.002299 0 0 NUFIP1 26747 broad.mit.edu 37 13 45517783 45517783 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr13:45517783C>T uc001uzp.2 - 9 1207 c.1165G>A c.(1165-1167)GTT>ATT p.V389I NM_012345 NP_036477 Q9UHK0 NUFP1_HUMAN nuclear fragile X mental retardation protein 389 box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding 0 Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125) TCTGCCAAAACGTCTGCTTCA 0.333 NA 9 154 0 0 0.008291 0 0 ARL11 115761 broad.mit.edu 37 13 50204848 50204848 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr13:50204848G>A uc001vdf.1 + 2 411 c.265G>A c.(265-267)GAC>AAC p.D89N NM_138450 NP_612459 Q969Q4 ARL11_HUMAN ADP-ribosylation factor-like 11 89 small GTPase mediated signal transduction intracellular GTP binding|protein binding 0 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169) GBM - Glioblastoma multiforme(99;1.67e-09) GTACGTGCTGGACAGCACAGA 0.612 NA 8 241 0 0 0.006214 0 0 PCDH17 27253 broad.mit.edu 37 13 58298763 58298763 + Missense_Mutation SNP A A G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr13:58298763A>G uc001vhq.1 + 4 3707 c.2815A>G c.(2815-2817)AAT>GAT p.N939D PCDH17_uc010aec.1_Missense_Mutation_p.N938D|PCDH17_uc001vhr.1_Missense_Mutation_p.N28D NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 939 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) AGAGTGTGTTAATTGCACAGA 0.428 Melanoma(72;952 1291 1619 12849 33676) NA 19 81 0 0 0.002299 0 0 PCDH9 5101 broad.mit.edu 37 13 66879088 66879088 + Missense_Mutation SNP T T G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr13:66879088T>G uc001vik.2 - 5 4105 c.3413A>C c.(3412-3414)CAC>CCC p.H1138P PCDH9_uc010aei.2_RNA|PCDH9_uc001vil.2_Missense_Mutation_p.H1104P|PCDH9_uc010thl.1_Missense_Mutation_p.H1096P NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 1138 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) ATTATCAGAGTGACCCAAAAC 0.493 NA 45 118 0 0 0.010771 0 0 MYCBP2 23077 broad.mit.edu 37 13 77713445 77713445 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr13:77713445C>T uc001vkf.2 - 53 7522 c.7431G>A c.(7429-7431)CTG>CTA p.L2477L MYCBP2_uc010aev.2_Silent_p.L1881L NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 2477 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CATTCAGCCTCAGCCACACAC 0.428 NA 26 177 0 0 0.004656 0 0 CLDN10 9071 broad.mit.edu 37 13 96205172 96205172 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr13:96205172C>T uc001vmh.2 + 1 226 c.165C>T c.(163-165)ACC>ACT p.T55T CLDN10_uc001vmg.2_Intron|CLDN10_uc010tii.1_Intron NM_006984 NP_008915 P78369 CLD10_HUMAN claudin 10 isoform b 55 Extracellular (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity ovary(1) 1 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.18) CGTGCGTTACCGACTCCACGG 0.647 NA 5 112 0 0 0.001168 0 0 DOCK9 23348 broad.mit.edu 37 13 99534165 99534165 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr13:99534165C>A uc001vnt.2 - 24 2714 c.2659G>T c.(2659-2661)GTC>TTC p.V887F DOCK9_uc001vnw.2_Missense_Mutation_p.V886F|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.V887F|DOCK9_uc010tis.1_Missense_Mutation_p.V886F|DOCK9_uc010tit.1_Missense_Mutation_p.V887F|DOCK9_uc010afu.1_Missense_Mutation_p.V733F NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 887 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TTAACCGCGACTTCTTCCTGT 0.532 NA 5 18 1.23904e-05 1.30146e-05 0.000602 1 0 NALCN 259232 broad.mit.edu 37 13 101997749 101997749 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr13:101997749C>A uc001vox.1 - 7 856 c.667G>T c.(667-669)GCT>TCT p.A223S NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.A223S|NALCN_uc001vpa.2_Missense_Mutation_p.A223S NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 223 Extracellular (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TCTGGAATAGCTAAACTATTC 0.398 NA 54 129 5.57489e-27 7.63044e-27 0.00361 1 0 COL4A2 1284 broad.mit.edu 37 13 111077165 111077165 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr13:111077165G>A uc001vqx.2 + 5 554 c.265G>A c.(265-267)GAC>AAC p.D89N NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 89 angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) ACGTAAAGGAGACAAGGGTGA 0.622 NA 48 187 0 0 0.00361 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111862229 111862229 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr13:111862229G>T uc001vrs.2 + 5 661 c.411G>T c.(409-411)CTG>CTT p.L137L ARHGEF7_uc001vrr.2_Silent_p.L116L|ARHGEF7_uc001vrt.2_Silent_p.L87L|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vru.1_5'UTR|ARHGEF7_uc001vrv.3_Intron|ARHGEF7_uc001vrw.3_5'UTR|ARHGEF7_uc001vrx.3_5'UTR|ARHGEF7_uc010tjo.1_Silent_p.L34L NM_001113511 NP_001106983 Q14155 ARHG7_HUMAN PAK-interacting exchange factor beta isoform c 137 apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) ACATCGGGCTGGGGAGTGACT 0.527 NA 201 452 8.86189e-83 1.39625e-82 0.00361 1 0 ADPRHL1 113622 broad.mit.edu 37 13 114077292 114077292 + Nonsense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr13:114077292C>A uc001vtq.1 - 7 997 c.910G>T c.(910-912)GAG>TAG p.E304* ADPRHL1_uc001vtp.1_Nonsense_Mutation_p.E222* NM_138430 NP_612439 Q8NDY3 ARHL1_HUMAN ADP-ribosylhydrolase like 1 isoform 1 304 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding 0 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116) GCCGCGCTCTCCCCTGAAACG 0.642 NA 52 100 9.16383e-17 1.13248e-16 0.00361 1 0 RASA3 22821 broad.mit.edu 37 13 114782760 114782760 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr13:114782760C>A uc001vui.2 - 12 1290 c.1159G>T c.(1159-1161)GCG>TCG p.A387S RASA3_uc010tkk.1_Missense_Mutation_p.A355S|RASA3_uc001vuj.2_Missense_Mutation_p.A4S|RASA3_uc010tkl.1_RNA NM_007368 NP_031394 Q14644 RASA3_HUMAN RAS p21 protein activator 3 387 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity lung(3)|skin(1) 4 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) TGCATCCCCGCCAGCTTCATG 0.612 NA OREG0022538 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 63 178 3.28615e-30 4.58098e-30 0.00361 1 0 OR4Q3 441669 broad.mit.edu 37 14 20216521 20216521 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr14:20216521C>A uc010tkt.1 + 1 935 c.935C>A c.(934-936)CCT>CAT p.P312H NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 312 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATTCCATTGCCTTGTTAAGGA 0.393 NA 26 33 4.7796e-09 5.29866e-09 0.004656 1 0 OR4K2 390431 broad.mit.edu 37 14 20344728 20344728 + Missense_Mutation SNP T T C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr14:20344728T>C uc001vwh.1 + 1 302 c.302T>C c.(301-303)ATA>ACA p.I101T NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, 101 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTTACCCAGATATTCTTTCTC 0.418 NA 92 190 0 0 0.00361 0 0 OR4K17 390436 broad.mit.edu 37 14 20585657 20585657 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr14:20585657C>A uc001vwo.1 + 1 92 c.92C>A c.(91-93)GCC>GAC p.A31D NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, 3 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) AGGATGGAGGCCATGAAACTA 0.418 NA 51 137 5.85753e-14 6.93283e-14 0.00361 1 0 LRRC16B 90668 broad.mit.edu 37 14 24534852 24534852 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr14:24534852G>C uc001wlj.2 + 34 3575 c.3418G>C c.(3418-3420)GGG>CGG p.G1140R LRRC16B_uc001wlk.2_Intron NM_138360 NP_612369 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 1140 ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(265;0.019) GTCAGAGCCAGGGGAGGGGGG 0.607 NA 93 68 0 0 0.00361 0 0 TM9SF1 10548 broad.mit.edu 37 14 24679976 24679976 + Splice_Site SNP T T C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr14:24679976T>C uc010tob.1 - 4 1072 c.438_splice c.e4-1 p.M146_splice CHMP4A_uc001wni.2_Splice_Site_p.M163_splice|CHMP4A_uc010toc.1_Splice_Site|CHMP4A_uc001wnj.2_Splice_Site_p.M163_splice NM_006405 NP_006396 O15321 TM9S1_HUMAN transmembrane 9 superfamily member 1 isoform a autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane ovary(1) 1 GBM - Glioblastoma multiforme(265;0.0183) TCAATGTCCCTGAGAATGAGA 0.488 NA 7 122 0 0 0.004482 0 0 HECTD1 25831 broad.mit.edu 37 14 31592131 31592131 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr14:31592131C>T uc001wrc.1 - 27 5593 c.5104G>A c.(5104-5106)GAG>AAG p.E1702K HECTD1_uc001wra.1_5'UTR|HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.E1170K NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 1702 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) ATAACCTCCTCGTATTCTTGG 0.388 NA 38 140 0 0 0.00623 0 0 PRPF39 55015 broad.mit.edu 37 14 45584071 45584071 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr14:45584071G>C uc001wvz.3 + 14 2135 c.1965G>C c.(1963-1965)CAG>CAC p.Q655H PRPF39_uc001wvy.3_Missense_Mutation_p.Q534H|PRPF39_uc010and.2_Missense_Mutation_p.Q445H|PRPF39_uc001wwa.1_3'UTR NM_017922 NP_060392 Q86UA1 PRP39_HUMAN PRP39 pre-mRNA processing factor 39 homolog 655 mRNA processing|RNA splicing nucleus binding ovary(1)|breast(1) 2 ACAATTATCAGAATCCTTGGA 0.308 NA 4 55 0 0 0.009096 0 0 MAX 4149 broad.mit.edu 37 14 65544682 65544682 + Nonsense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr14:65544682G>A uc001xif.1 - 4 414 c.244C>T c.(244-246)CAG>TAG p.Q82* MAX_uc001xic.1_Intron|MAX_uc001xie.1_Nonsense_Mutation_p.Q82*|MAX_uc010aql.1_Intron|MAX_uc001xig.1_Nonsense_Mutation_p.Q73*|MAX_uc001xih.1_RNA|MAX_uc001xii.1_Nonsense_Mutation_p.Q73*|MAX_uc001xij.1_Nonsense_Mutation_p.Q82* NM_002382 NP_002373 P61244 MAX_HUMAN MAX protein isoform a 82 Leucine-zipper. transcription from RNA polymerase II promoter cytoplasm|MLL1 complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity lung(1) 1 all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999) ATATCTTGCTGGTGTGTGTGG 0.542 NA 74 49 0 0 0.00361 0 0 RGS6 9628 broad.mit.edu 37 14 72921245 72921245 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr14:72921245T>A uc001xna.3 + 4 717 c.194T>A c.(193-195)ATT>AAT p.I65N RGS6_uc010ttn.1_Missense_Mutation_p.I65N|RGS6_uc001xmx.3_Missense_Mutation_p.I65N|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.I65N|RGS6_uc010ttp.1_Translation_Start_Site|RGS6_uc010arg.2_RNA NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 65 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) GGTACTGACATTGTGCAGTGG 0.448 Ovarian(143;1926 2468 21071 48641) NA 7 160 0 0 0.00308 0 0 C14orf49 161176 broad.mit.edu 37 14 95932297 95932297 + Nonsense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr14:95932297C>A uc001yei.3 - 3 613 c.598G>T c.(598-600)GAG>TAG p.E200* C14orf49_uc010avi.2_Nonsense_Mutation_p.E200*|C14orf49_uc001yej.1_Nonsense_Mutation_p.E200* NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 200 Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) GCATCGTACTCAGCCTTCATT 0.502 NA 16 57 3.41278e-10 3.88447e-10 0.00499 1 0 ATG2B 55102 broad.mit.edu 37 14 96752139 96752139 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr14:96752139C>G uc001yfi.2 - 42 6555 c.6190G>C c.(6190-6192)GAT>CAT p.D2064H NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 2064 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TGCCGGACATCTGGCCTAATT 0.537 NA 20 74 0 0 0.008871 0 0 BCL11B 64919 broad.mit.edu 37 14 99641922 99641922 + Silent SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr14:99641922C>A uc001yga.2 - 4 1518 c.1251G>T c.(1249-1251)ACG>ACT p.T417T BCL11B_uc001ygb.2_Silent_p.T346T NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B isoform 1 417 nucleus zinc ion binding central_nervous_system(8)|large_intestine(1)|lung(1) 10 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) GCGGGGGCGGCGTGCCGCCAG 0.687 NA T TLX3 T-ALL 28 9 1.74197e-06 1.86776e-06 0.00632 1 0 RTL1 388015 broad.mit.edu 37 14 101348393 101348393 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr14:101348393G>T uc010txj.1 - 1 2792 c.2733C>A c.(2731-2733)TCC>TCA p.S911S uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank NM_001134888 NP_001128360 A6NKG5 RTL1_HUMAN retrotransposon-like 1 911 pancreas(1) 1 CCTCGATAGGGGAGATGTTGC 0.587 NA 7 22 2.0095e-06 2.14522e-06 0.001984 1 0 DYNC1H1 1778 broad.mit.edu 37 14 102493027 102493027 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr14:102493027C>T uc001yks.2 + 44 8918 c.8754C>T c.(8752-8754)CAC>CAT p.H2918H NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 2918 AAA 4 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 TCCTAGACCACGTGCTGAGGA 0.438 NA 36 29 0 0 0.002836 0 0 KIAA0284 283638 broad.mit.edu 37 14 105350319 105350319 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr14:105350319G>A uc010axb.2 + 9 1427 c.1203G>A c.(1201-1203)CAG>CAA p.Q401Q INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.Q331Q|KIAA0284_uc001yps.2_Silent_p.Q307Q NM_001112726 NP_001106197 Q9Y4F5 K0284_HUMAN hypothetical protein LOC283638 isoform 1 401 cytoplasm|microtubule breast(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.178) TACATAACCAGCAGGCCTTTG 0.662 NA 12 12 0 0 0.001368 0 0 OR4M2 390538 broad.mit.edu 37 15 22368735 22368735 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:22368735C>T uc010tzu.1 + 1 160 c.160C>T c.(160-162)CAT>TAT p.H54Y LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 54 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCTAGACCCTCATCTGACCTC 0.403 NA 17 741 0 0 0.008871 0 0 OR4M2 390538 broad.mit.edu 37 15 22368914 22368914 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:22368914C>A uc010tzu.1 + 1 339 c.339C>A c.(337-339)TTC>TTA p.F113L LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 113 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CGGAGATGTTCTTGCTCACAG 0.468 NA 72 423 7.46257e-40 1.09975e-39 0.00361 1 0 NIPA1 123606 broad.mit.edu 37 15 23052651 23052651 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:23052651G>A uc001yvc.2 - 4 447 c.422C>T c.(421-423)CCA>CTA p.P141L NIPA1_uc001yvd.2_5'UTR|NIPA1_uc001yve.2_Missense_Mutation_p.P66L NM_144599 NP_653200 Q7RTP0 NIPA1_HUMAN non-imprinted in Prader-Willi/Angelman syndrome 141 Extracellular (Potential). cell death early endosome|integral to membrane|plasma membrane 0 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165) CTCAGACTTTGGGGAGTGGAT 0.493 NA 71 128 0 0 0.00361 0 0 SNRPN 6638 broad.mit.edu 37 15 25222062 25222062 + Silent SNP A A T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:25222062A>T uc001ywp.1 + 10 1196 c.306A>T c.(304-306)GGA>GGT p.G102G SNRPN_uc001ywq.1_Silent_p.G102G|SNRPN_uc001ywr.1_Silent_p.G102G|SNRPN_uc001yws.1_Silent_p.G102G|SNRPN_uc001ywt.1_Silent_p.G102G|SNRPN_uc001ywv.1_Silent_p.G105G|SNRPN_uc001yww.1_Silent_p.G102G|SNRPN_uc001ywx.1_Silent_p.G102G|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR NM_022807 NP_073718 P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N 102 RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex identical protein binding|RNA binding ovary(1) 1 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) GAGCTGCTGGAGGCCCTGGGG 0.527 NA Prader-Willsyndrome 33 114 0 0 0.004289 0 0 HERC2 8924 broad.mit.edu 37 15 28473435 28473435 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:28473435C>A uc001zbj.2 - 35 5499 c.5393G>T c.(5392-5394)GGC>GTC p.G1798V NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 1798 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GTTGTTTGCGCCGTGCTGCAG 0.617 NA 18 44 2.94398e-08 3.23442e-08 0.007413 1 0 HERC2 8924 broad.mit.edu 37 15 28493784 28493784 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:28493784G>A uc001zbj.2 - 21 3255 c.3149C>T c.(3148-3150)TCA>TTA p.S1050L NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 1050 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CAAATCCAATGAAGCAGATCT 0.388 NA 11 46 0 0 0.010729 0 0 MTMR15 22909 broad.mit.edu 37 15 31197848 31197848 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:31197848G>C uc001zff.2 + 2 1273 c.982G>C c.(982-984)GAT>CAT p.D328H MTMR15_uc001zfc.3_Missense_Mutation_p.D328H|MTMR15_uc010azw.2_Missense_Mutation_p.D328H|MTMR15_uc001zfd.3_Missense_Mutation_p.D328H|MTMR15_uc001zfe.2_5'UTR NM_014967 NP_055782 Q9Y2M0 FAN1_HUMAN myotubularin related protein 15 isoform a 328 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding 0 all_lung(180;2.23e-09) all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168) TAGTTCTGCAGATGATGCTTC 0.433 NA Direct_reversal_of_damage|Editing_and_processing_nucleases 4 59 0 0 0.009096 0 0 C15orf55 256646 broad.mit.edu 37 15 34648927 34648927 + Silent SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:34648927T>A uc001zif.2 + 7 2789 c.2634T>A c.(2632-2634)CCT>CCA p.P878P C15orf55_uc010ucc.1_Silent_p.P906P|C15orf55_uc010ucd.1_Silent_p.P896P NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 878 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) CCTCCTTGCCTGAAGCCAGTC 0.498 NA T BRD3|BRD4 lethal midline carcinoma 24 66 0 0 0.00278 0 0 FSIP1 161835 broad.mit.edu 37 15 40068673 40068673 + Nonsense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:40068673G>C uc001zki.2 - 2 271 c.53C>G c.(52-54)TCA>TGA p.S18* NM_152597 NP_689810 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 18 ovary(2)|skin(1) 3 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) GCGTATTCTTGAATTTGAAGC 0.358 NA 7 98 0 0 0.00308 0 0 LTK 4058 broad.mit.edu 37 15 41799484 41799484 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:41799484C>A uc001zoa.3 - 11 1528 c.1350G>T c.(1348-1350)AAG>AAT p.K450N LTK_uc001zob.3_Missense_Mutation_p.K389N|LTK_uc010ucx.1_Intron|LTK_uc010bcg.2_Missense_Mutation_p.K148N NM_002344 NP_002335 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase isoform 1 450 Cytoplasmic (Potential). apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|central_nervous_system(1) 7 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) ACTTCTTCTGCTTCACTGGGG 0.602 NA TSP Lung(18;0.14) 15 32 1.5739e-10 1.79979e-10 0.004007 1 0 MAP1A 4130 broad.mit.edu 37 15 43817250 43817250 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:43817250C>A uc001zrt.2 + 4 4046 c.3579C>A c.(3577-3579)GAC>GAA p.D1193E NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 1193 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CTCCAGAAGACACCCAGTCAC 0.552 NA 43 81 1.62957e-23 2.16687e-23 0.00874 1 0 SERINC4 619189 broad.mit.edu 37 15 44088828 44088828 + Silent SNP A A G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:44088828A>G uc010bds.1 - 5 789 c.321T>C c.(319-321)TGT>TGC p.C107C ELL3_uc001zsx.1_5'UTR|C15orf63_uc001ztb.2_Intron|MIR1282_hsa-mir-1282|MI0006429_5'Flank|SERINC4_uc001ztc.1_RNA|SERINC4_uc001ztd.1_Intron|SERINC4_uc001zte.1_Silent_p.C107C NM_001033517 NP_001028689 A6NH21 SERC4_HUMAN serine incorporator 4 351 Helical; (Potential). phospholipid biosynthetic process integral to membrane 0 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) GBM - Glioblastoma multiforme(94;7.81e-07) CAAAAAGCACACAAGCATACA 0.498 NA 49 112 0 0 0.00361 0 0 GALK2 2585 broad.mit.edu 37 15 49620315 49620315 + Missense_Mutation SNP A A T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:49620315A>T uc001zxj.1 + 10 1434 c.1336A>T c.(1336-1338)ACC>TCC p.T446S GALK2_uc001zxi.1_Missense_Mutation_p.T435S|GALK2_uc010ufb.1_Missense_Mutation_p.T422S|GALK2_uc001zxk.2_RNA|GALK2_uc010ufc.1_Missense_Mutation_p.T422S NM_002044 NP_002035 Q01415 GALK2_HUMAN galactokinase 2 isoform 1 446 galactose metabolic process cytoplasm ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity breast(1) 1 all_lung(180;0.000325) all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05) TTTGTTTGCTACCAAACCTGG 0.463 NA 21 46 0 0 0.010504 0 0 ATP8B4 79895 broad.mit.edu 37 15 50154487 50154487 + Silent SNP T T C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:50154487T>C uc001zxu.2 - 27 3394 c.3252A>G c.(3250-3252)GCA>GCG p.A1084A ATP8B4_uc010ber.2_Silent_p.A957A|ATP8B4_uc010ufd.1_Silent_p.A894A|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Silent_p.A87A NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 1084 Helical; (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) AAAATCTGAATGCCACCACTG 0.423 NA 16 39 0 0 0.003163 0 0 DMXL2 23312 broad.mit.edu 37 15 51772810 51772810 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:51772810G>A uc002abf.2 - 24 6718 c.6493C>T c.(6493-6495)CAT>TAT p.H2165Y DMXL2_uc002abd.2_Missense_Mutation_p.H235Y|DMXL2_uc010ufy.1_Missense_Mutation_p.H2165Y|DMXL2_uc010bfa.2_Missense_Mutation_p.H1529Y NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2165 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) TGGGCCCCATGAAGGCTACAG 0.428 NA 5 143 0 0 0.000602 0 0 UNC13C 440279 broad.mit.edu 37 15 54542458 54542458 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:54542458G>T uc002ack.2 + 6 3264 c.3264G>T c.(3262-3264)CTG>CTT p.L1088L NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1088 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TGCAGGCACTGATCTACCCTA 0.463 NA 14 67 2.32078e-09 2.59631e-09 0.003163 1 0 ADAM10 102 broad.mit.edu 37 15 58974496 58974496 + Missense_Mutation SNP A A T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:58974496A>T uc002afd.1 - 3 668 c.224T>A c.(223-225)ATG>AAG p.M75K ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron|ADAM10_uc002afg.2_Missense_Mutation_p.M75K NM_001110 NP_001101 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 precursor 75 Extracellular (Potential). cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding skin(2) 2 GBM - Glioblastoma multiforme(80;0.202) GTCCCTCTTCATTCGTAGGTT 0.289 NA 26 50 0 0 0.012213 0 0 VPS13C 54832 broad.mit.edu 37 15 62169227 62169227 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:62169227T>A uc002agz.2 - 75 10243 c.10169A>T c.(10168-10170)CAG>CTG p.Q3390L VPS13C_uc002aha.2_Missense_Mutation_p.Q3347L|VPS13C_uc002ahb.1_Missense_Mutation_p.Q3390L|VPS13C_uc002ahc.1_Missense_Mutation_p.Q3347L NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 3390 protein localization ovary(2) 2 CTTGTAGAACTGATATCGAAT 0.289 NA 47 120 0 0 0.00361 0 0 SGK269 79834 broad.mit.edu 37 15 77425939 77425939 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:77425939C>T uc002bcm.2 - 5 3793 c.3485G>A c.(3484-3486)AGA>AAA p.R1162K NM_024776 NP_079052 Q9H792 PEAK1_HUMAN NKF3 kinase family member 1162 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding 0 STAD - Stomach adenocarcinoma(199;0.124) TGTATTGGCTCTTATGATCAT 0.493 NA 32 162 0 0 0.008361 0 0 LOC645752 645752 broad.mit.edu 37 15 78211548 78211548 + Silent SNP T T C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:78211548T>C uc010bky.2 - 11 983 c.219A>G c.(217-219)CAA>CAG p.Q73Q NR_027024 SubName: Full=GOLGA6 protein; Flags: Fragment; 0 CCACCTGGGATTGGAGCTTTC 0.562 NA 4 308 0 0 0.009096 0 0 RASGRF1 5923 broad.mit.edu 37 15 79291123 79291123 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:79291123G>A uc002beq.2 - 19 3214 c.2839C>T c.(2839-2841)CGC>TGC p.R947C RASGRF1_uc002bep.2_Missense_Mutation_p.R931C|RASGRF1_uc010blm.1_Missense_Mutation_p.R856C|RASGRF1_uc002ber.3_Missense_Mutation_p.R931C|RASGRF1_uc010unh.1_Missense_Mutation_p.R342C|RASGRF1_uc002beo.2_Missense_Mutation_p.R163C NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 949 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 GCTGCTCTGCGGATCACAAAC 0.612 NA 21 92 0 0 0.002299 0 0 FAM154B 283726 broad.mit.edu 37 15 82574765 82574765 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:82574765G>T uc002bgv.2 + 3 628 c.559G>T c.(559-561)GAC>TAC p.D187Y FAM154B_uc010unr.1_Missense_Mutation_p.D172Y|FAM154B_uc010uns.1_RNA NM_001008226 NP_001008227 Q658L1 F154B_HUMAN hypothetical protein LOC283726 187 skin(2) 2 TCACCGGTGTGACTTTCAGGG 0.443 NA 29 63 2.48779e-11 2.85819e-11 0.005443 1 0 AP3B2 8120 broad.mit.edu 37 15 83331452 83331452 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:83331452C>T uc010uoh.1 - 22 2947 c.2770G>A c.(2770-2772)GAA>AAA p.E924K AP3B2_uc010uoi.1_Missense_Mutation_p.E943K|AP3B2_uc010uoj.1_Missense_Mutation_p.E892K|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Missense_Mutation_p.E560K NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 924 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity ovary(3)|breast(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.229) GCACCAATTTCGGGAAATTCT 0.577 NA 5 14 0 0 0.000602 0 0 ACAN 176 broad.mit.edu 37 15 89381918 89381918 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:89381918G>C uc010upo.1 + 3 469 c.95G>C c.(94-96)AGC>ACC p.S32T ACAN_uc002bmx.2_Missense_Mutation_p.S32T|ACAN_uc010upp.1_Missense_Mutation_p.S32T|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 32 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CTGAGTGTCAGCATCCCCCAA 0.612 NA 8 157 0 0 0.004482 0 0 ACAN 176 broad.mit.edu 37 15 89386626 89386626 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:89386626C>T uc010upo.1 + 6 1172 c.798C>T c.(796-798)TTC>TTT p.F266F ACAN_uc002bmx.2_Silent_p.F266F|ACAN_uc010upp.1_Silent_p.F266F|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 266 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AGTTCACCTTCCAGGAAGCAG 0.632 NA 18 29 0 0 0.010504 0 0 MAN2A2 4122 broad.mit.edu 37 15 91456191 91456191 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:91456191C>T uc010bnz.2 + 17 2669 c.2554C>T c.(2554-2556)CAC>TAC p.H852Y MAN2A2_uc002bqc.2_Missense_Mutation_p.H852Y|MAN2A2_uc010uql.1_Missense_Mutation_p.H514Y|MAN2A2_uc010uqm.1_Missense_Mutation_p.H431Y|MAN2A2_uc010uqn.1_RNA NM_006122 NP_006113 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 852 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) TGAGCACATTCACCAGGCGGT 0.567 NA 5 98 0 0 0.001168 0 0 VPS33B 26276 broad.mit.edu 37 15 91561108 91561108 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:91561108C>T uc002bqp.1 - 2 458 c.104G>A c.(103-105)GGA>GAA p.G35E VPS33B_uc002bqq.1_5'UTR|VPS33B_uc010uqu.1_Intron NM_018668 NP_061138 Q9H267 VP33B_HUMAN vacuolar protein sorting 33B (yeast homolog)) 35 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding ovary(2) 2 Lung NSC(78;0.0987)|all_lung(78;0.175) ATCCTTTTTTCCAGGAAGCTG 0.498 NA 5 98 0 0 0.001984 0 0 TARSL2 123283 broad.mit.edu 37 15 102242533 102242533 + Missense_Mutation SNP T T C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr15:102242533T>C uc002bxm.2 - 9 1185 c.1130A>G c.(1129-1131)TAT>TGT p.Y377C TARSL2_uc002bxl.2_5'UTR|TARSL2_uc010usi.1_RNA NM_152334 NP_689547 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 377 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity ovary(2) 2 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GGATATTCCATAGATCCTCTG 0.403 NA 38 113 0 0 0.004878 0 0 ITFG3 83986 broad.mit.edu 37 16 313761 313761 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:313761G>T uc002cgf.2 + 10 1370 c.1175G>T c.(1174-1176)GGC>GTC p.G392V ITFG3_uc002cgg.2_Missense_Mutation_p.G392V|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Missense_Mutation_p.G392V NM_032039 NP_114428 Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 392 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) AACGGAACTGGCACCGACAGA 0.552 NA 26 72 1.2476e-16 1.53986e-16 0.00632 1 0 SSTR5 6755 broad.mit.edu 37 16 1129862 1129862 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:1129862G>A uc002ckq.2 + 1 1082 c.994G>A c.(994-996)GCC>ACC p.A332T LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank NM_001053 NP_001044 P35346 SSR5_HUMAN somatostatin receptor 5 332 Cytoplasmic (Potential). negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity lung(1) 1 Hepatocellular(780;0.00369) Octreotide(DB00104) GGACGCTGACGCCACGGAGCC 0.662 NA 23 32 0 0 0.002299 0 0 CLCN7 1186 broad.mit.edu 37 16 1499037 1499037 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:1499037T>A uc002clv.2 - 19 1837 c.1727A>T c.(1726-1728)AAC>ATC p.N576I CLCN7_uc010brq.1_5'Flank|CLCN7_uc002clu.2_Missense_Mutation_p.N24I|CLCN7_uc002clw.2_Missense_Mutation_p.N552I NM_001287 NP_001278 P51798 CLCN7_HUMAN chloride channel 7 isoform a 576 integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 Hepatocellular(780;0.0893) GTAGGTCACGTTGCTGGTGGC 0.622 NA 12 68 0 0 0.001368 0 0 IFT140 9742 broad.mit.edu 37 16 1634398 1634398 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:1634398C>T uc002cmb.2 - 11 1541 c.1179G>A c.(1177-1179)CTG>CTA p.L393L IFT140_uc002clz.2_Silent_p.L44L NM_014714 NP_055529 Q96RY7 IF140_HUMAN intraflagellar transport 140 393 ovary(3)|pancreas(1)|skin(1) 5 Hepatocellular(780;0.219) TGTTCACTGCCAGCAGGTTCT 0.557 NA 6 29 0 0 0.001168 0 0 HS3ST6 64711 broad.mit.edu 37 16 1961980 1961980 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:1961980C>G uc002cnf.2 - 2 547 c.547G>C c.(547-549)GGC>CGC p.G183R NM_001009606 NP_001009606 C9JH64 C9JH64_HUMAN heparan sulfate (glucosamine) 183 0 TCCACGGGGCCCAGGCCGTGG 0.711 NA 42 16 0 0 0.007835 0 0 CASKIN1 57524 broad.mit.edu 37 16 2239047 2239047 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:2239047C>T uc010bsg.1 - 6 630 c.598G>A c.(598-600)GGC>AGC p.G200S NM_020764 NP_065815 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 200 ANK 5. signal transduction cytoplasm skin(2) 2 TCGATGTGGCCGTTTTTAGCT 0.652 NA 29 114 0 0 0.008361 0 0 KCTD5 54442 broad.mit.edu 37 16 2749879 2749879 + Missense_Mutation SNP A A T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:2749879A>T uc002crd.2 + 4 566 c.511A>T c.(511-513)ATG>TTG p.M171L NM_018992 NP_061865 Q9NXV2 KCTD5_HUMAN potassium channel tetramerisation domain 171 interspecies interaction between organisms cytosol|nucleus|voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity 0 GCTCACGCAGATGGTGTCCAC 0.622 Ovarian(56;981 1456 4301 50892) NA 35 104 0 0 0.004289 0 0 SRRM2 23524 broad.mit.edu 37 16 2813036 2813036 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:2813036C>T uc002crk.2 + 11 3056 c.2507C>T c.(2506-2508)TCC>TTC p.S836F SRRM2_uc002crj.1_Missense_Mutation_p.S740F|SRRM2_uc002crl.1_Missense_Mutation_p.S836F|SRRM2_uc010bsu.1_Missense_Mutation_p.S740F NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 836 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CAAAGTCATTCCAGTTCATCT 0.483 NA 71 334 0 0 0.00361 0 0 CREBBP 1387 broad.mit.edu 37 16 3790432 3790432 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:3790432C>G uc002cvv.2 - 24 4305 c.4101G>C c.(4099-4101)AAG>AAC p.K1367N CREBBP_uc002cvw.2_Missense_Mutation_p.K1329N NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1367 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CCTCCACCGTCTTGTCTGAGC 0.592 NA T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybsyndrome 15 92 0 0 0.006122 0 0 GLYR1 84656 broad.mit.edu 37 16 4862237 4862237 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:4862237T>A uc002cxx.3 - 13 1169 c.1132A>T c.(1132-1134)AGG>TGG p.R378W GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Missense_Mutation_p.R292W|GLYR1_uc002cya.2_Missense_Mutation_p.R372W|GLYR1_uc010uxv.1_Missense_Mutation_p.R297W NM_032569 NP_115958 Q49A26 GLYR1_HUMAN cytokine-like nuclear factor n-pac 378 pentose-phosphate shunt nucleus coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity 0 CGCCCCCCCCTGGACACAATC 0.582 NA 11 35 0 0 0.001368 0 0 NUBP1 4682 broad.mit.edu 37 16 10855248 10855248 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:10855248G>C uc002daa.1 + 8 657 c.634G>C c.(634-636)GAA>CAA p.E212Q FAM18A_uc010uyr.1_RNA|FAM18A_uc010uys.1_RNA|FAM18A_uc010uyt.1_RNA|FAM18A_uc010bun.2_RNA|FAM18A_uc010uyu.1_RNA|FAM18A_uc002dad.3_RNA|NUBP1_uc010bum.1_Missense_Mutation_p.E77Q|NUBP1_uc002dab.1_Missense_Mutation_p.E201Q NM_002484 NP_002475 P53384 NUBP1_HUMAN nucleotide binding protein 1 212 cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly cytosol 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding ovary(1)|skin(1) 2 TGTCCGGAAAGAAATCAACTT 0.542 NA 6 94 0 0 0.001168 0 0 TNP2 7142 broad.mit.edu 37 16 11362792 11362792 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:11362792C>G uc002das.2 - 1 369 c.328G>C c.(328-330)GAA>CAA p.E110Q C16orf75_uc002daq.1_Intron NM_005425 NP_005416 Q05952 STP2_HUMAN transition protein 2 (during histone to 110 cell differentiation|multicellular organismal development|spermatogenesis nucleosome|nucleus DNA binding 0 AGCTTGCCTTCCAAGTTCTTT 0.537 NA 3 110 0 0 0.004672 0 0 Unknown 0 broad.mit.edu 37 16 15023187 15023188 + Missense_Mutation DNP GG GG TT TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:15023187_15023188GG>TT uc010uzk.1 + 6 1032_1033 c.756_757GG>TT c.(754-759)ATGGTG>ATTTTG p.252_253MV>IL NPIP_uc002dcx.3_RNA SubName: Full=cDNA FLJ57488, highly similar to Polycystin-1; NA CATCGCGGATGGTGGCGTCCCA 0.668 NA 10 7 0 0 0.004672 0 0 MYH11 4629 broad.mit.edu 37 16 15844070 15844070 + Silent SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:15844070C>A uc002ddy.2 - 16 2090 c.1983G>T c.(1981-1983)CTG>CTT p.L661L MYH11_uc002ddv.2_Silent_p.L668L|MYH11_uc002ddw.2_Silent_p.L661L|MYH11_uc002ddx.2_Silent_p.L668L|MYH11_uc010bvg.2_Silent_p.L493L|MYH11_uc002dea.1_Silent_p.L367L NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 661 Myosin head-like.|Actin-binding (By similarity). axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 TCAGCTTGCCCAGCTGCTCCT 0.632 NA T CBFB AML 60 68 9.40535e-28 1.29638e-27 0.00361 1 0 ACSM2A 123876 broad.mit.edu 37 16 20480947 20480947 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:20480947G>C uc010bwe.2 + 5 741 c.502G>C c.(502-504)GAC>CAC p.D168H ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.D89H|ACSM2A_uc002dhf.3_Missense_Mutation_p.D168H|ACSM2A_uc002dhg.3_Missense_Mutation_p.D168H|ACSM2A_uc010vay.1_Missense_Mutation_p.D89H NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 168 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 CCAAGAAGTGGACACAGTGGC 0.453 NA 42 198 0 0 0.00361 0 0 ACSM2A 123876 broad.mit.edu 37 16 20487072 20487072 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:20487072G>A uc010bwe.2 + 9 1314 c.1075G>A c.(1075-1077)GAA>AAA p.E359K ACSM2A_uc010vax.1_Missense_Mutation_p.E280K|ACSM2A_uc002dhf.3_Missense_Mutation_p.E359K|ACSM2A_uc002dhg.3_Missense_Mutation_p.E359K|ACSM2A_uc010vay.1_Missense_Mutation_p.E280K|ACSM2A_uc002dhh.3_5'UTR NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 359 ATP. fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 GGACATCCGAGAATCCTATGG 0.488 NA 51 317 0 0 0.00361 0 0 ACSM2A 123876 broad.mit.edu 37 16 20492161 20492161 + Missense_Mutation SNP C C G rs75603553 byFrequency TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:20492161C>G uc010bwe.2 + 13 1666 c.1427C>G c.(1426-1428)TCG>TGG p.S476W ACSM2A_uc010vax.1_Missense_Mutation_p.S397W|ACSM2A_uc002dhf.3_Missense_Mutation_p.S476W|ACSM2A_uc002dhg.3_Missense_Mutation_p.S476W|ACSM2A_uc010vay.1_Missense_Mutation_p.S397W|ACSM2A_uc002dhh.3_Missense_Mutation_p.S106W NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 476 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 ATTGGACCCTCGGAGGTAGAG 0.567 NA 20 116 0 0 0.012319 0 0 ACSM3 6296 broad.mit.edu 37 16 20793094 20793094 + Missense_Mutation SNP A A G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:20793094A>G uc002dhr.2 + 7 1191 c.1004A>G c.(1003-1005)CAG>CGG p.Q335R ACSM3_uc002dhq.2_Missense_Mutation_p.Q335R|ACSM3_uc010vba.1_Missense_Mutation_p.Q364R|ERI2_uc002dhs.2_Intron NM_005622 NP_005613 Q53FZ2 ACSM3_HUMAN SA hypertension-associated homolog isoform 1 335 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding ovary(1) 1 ATGCTTGTACAGAATGATATA 0.393 NA 36 55 0 0 0.004878 0 0 METTL9 51108 broad.mit.edu 37 16 21611105 21611105 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:21611105G>A uc002dje.2 + 1 250 c.51G>A c.(49-51)CTG>CTA p.L17L uc002diq.3_Intron|METTL9_uc002djf.2_Silent_p.L17L NM_016025 NP_057109 Q9H1A3 METL9_HUMAN methyltransferase like 9 isoform 1 17 ovary(1) 1 GBM - Glioblastoma multiforme(48;0.0759) CCGTGTGGCTGGCGCGGAGGA 0.597 NA 5 22 0 0 0.000602 0 0 VWA3A 146177 broad.mit.edu 37 16 22163858 22163858 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:22163858T>A uc010vbq.1 + 31 3404 c.3308T>A c.(3307-3309)CTG>CAG p.L1103Q VWA3A_uc010bxd.2_RNA|VWA3A_uc002dkg.3_Missense_Mutation_p.L181Q|VWA3A_uc010bxe.1_Missense_Mutation_p.L205Q NM_173615 NP_775886 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 1103 VWFA 2. extracellular region skin(1) 1 GBM - Glioblastoma multiforme(48;0.0439) CTGAGAAAGCTGGCTTCCTTC 0.562 NA 7 26 0 0 0.004482 0 0 ERN2 10595 broad.mit.edu 37 16 23713772 23713772 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:23713772G>T uc002dma.3 - 10 1333 c.1164C>A c.(1162-1164)CCC>CCA p.P388P ERN2_uc010bxp.2_Silent_p.P388P|ERN2_uc010bxq.1_Silent_p.P196P NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signalling 2 340 Lumenal (Potential). apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) CAGCAGTGCTGGGTGAGCCCT 0.577 NA 142 154 1.89244e-60 2.91603e-60 0.00361 1 0 TNRC6A 27327 broad.mit.edu 37 16 24804935 24804935 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:24804935C>G uc002dmm.2 + 7 3431 c.3317C>G c.(3316-3318)TCC>TGC p.S1106C TNRC6A_uc010bxs.2_Missense_Mutation_p.S853C|TNRC6A_uc010vcc.1_Missense_Mutation_p.S853C|TNRC6A_uc002dmn.2_Missense_Mutation_p.S853C|TNRC6A_uc002dmo.2_Intron NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1106 Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) ACGTGGGGCTCCAGCTCTGTT 0.502 NA 22 184 0 0 0.012319 0 0 GTF3C1 2975 broad.mit.edu 37 16 27472818 27472818 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:27472818G>A uc002dov.1 - 37 6223 c.6183C>T c.(6181-6183)TTC>TTT p.F2061F GTF3C1_uc002dou.2_Silent_p.F2036F NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 2061 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 CGGGTGTAGAGAAGAGCGAGA 0.627 NA 83 111 0 0 0.00361 0 0 ITGAM 3684 broad.mit.edu 37 16 31336590 31336590 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:31336590C>A uc002ebq.2 + 20 2468 c.2370C>A c.(2368-2370)GAC>GAA p.D790E ITGAM_uc002ebr.2_Missense_Mutation_p.D791E|ITGAM_uc010can.2_Missense_Mutation_p.D196E|ITGAM_uc002ebs.1_Missense_Mutation_p.D196E|ITGAM_uc010vfj.1_RNA NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 790 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 ACAGCCTGGACTGCCTCGTGG 0.597 NA 10 48 1.58986e-06 1.70841e-06 0.008291 1 0 SHCBP1 79801 broad.mit.edu 37 16 46633756 46633756 + Silent SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:46633756T>A uc002eec.3 - 9 1372 c.1332A>T c.(1330-1332)GTA>GTT p.V444V NM_024745 NP_079021 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 444 PbH1 1. ovary(1)|breast(1) 2 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) AGATTCCCTCTACAGCATCAT 0.358 NA 28 33 0 0 0.010818 0 0 MMP2 4313 broad.mit.edu 37 16 55516994 55516994 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:55516994C>T uc002ehz.3 + 2 638 c.327C>T c.(325-327)AAC>AAT p.N109N MMP2_uc010vhd.1_Silent_p.N33N|MMP2_uc010ccc.2_Silent_p.N59N NM_004530 NP_004521 P08253 MMP2_HUMAN matrix metalloproteinase 2 isoform a 109 angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 11 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) ATGTGGCCAACTACAACTTCT 0.582 NA 25 121 0 0 0.004656 0 0 MMP2 4313 broad.mit.edu 37 16 55519238 55519238 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:55519238G>T uc002ehz.3 + 4 868 c.557G>T c.(556-558)GGT>GTT p.G186V MMP2_uc010vhd.1_Missense_Mutation_p.G110V|MMP2_uc010ccc.2_Missense_Mutation_p.G136V NM_004530 NP_004521 P08253 MMP2_HUMAN matrix metalloproteinase 2 isoform a 186 Collagenase-like 1. Calcium 3; via carbonyl oxygen (By similarity). angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 11 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) CCCTTTGACGGTAAGGACGGA 0.562 NA 79 93 2.84431e-33 4.05149e-33 0.00361 1 0 MT1H 4496 broad.mit.edu 37 16 56704873 56704873 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:56704873C>G uc002ejw.2 + 3 229 c.158C>G c.(157-159)GCG>GGG p.A53G MT1G_uc002eju.1_5'Flank|MT1G_uc002ejv.1_5'Flank NM_005951 NP_005942 P80294 MT1H_HUMAN metallothionein 1H 53 Alpha. metal ion binding|protein binding 0 TGCAAAGGGGCGTCAGAGAAG 0.532 NA 12 126 0 0 0.00245 0 0 ZNF319 57567 broad.mit.edu 37 16 58030659 58030659 + Missense_Mutation SNP T T G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:58030659T>G uc002emx.1 - 2 2134 c.1511A>C c.(1510-1512)CAC>CCC p.H504P NM_020807 NP_065858 Q9P2F9 ZN319_HUMAN zinc finger protein 319 504 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TACCCGCCGGTGCCGCTGCAG 0.637 NA 15 13 0 0 0.003163 0 0 CMTM1 113540 broad.mit.edu 37 16 66612833 66612833 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:66612833G>A uc002epi.3 + 4 562 c.439G>A c.(439-441)GAA>AAA p.E147K CMTM1_uc002epb.3_RNA|CMTM1_uc002epc.3_RNA|CMTM1_uc002epd.3_RNA|CMTM1_uc002epe.3_RNA|CMTM1_uc002epf.3_RNA|CMTM1_uc002epg.3_RNA|CMTM1_uc002eph.3_3'UTR|CMTM1_uc002epl.3_Missense_Mutation_p.E100K|CMTM1_uc002epj.3_3'UTR|CMTM1_uc002epk.3_Missense_Mutation_p.E94K|CMTM1_uc002epa.3_3'UTR|CMTM1_uc002epn.3_3'UTR|CMTM1_uc002epo.3_RNA|CMTM1_uc002epp.3_RNA|CMTM1_uc002epq.3_RNA|CMTM1_uc010cds.2_RNA|CMTM1_uc002epr.3_Missense_Mutation_p.E264K|CMTM1_uc002epm.3_RNA|CMTM1_uc002eps.2_RNA|CMTM2_uc002ept.2_5'Flank|CMTM2_uc010cdu.2_5'Flank NM_181269 NP_851786 Q8IZ96 CKLF1_HUMAN chemokine-like factor superfamily 1 isoform 1 147 chemotaxis extracellular space|integral to membrane cytokine activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222) AGTCGAAGTTGAAAGGAAGCT 0.607 NA 35 168 0 0 0.004289 0 0 FUK 197258 broad.mit.edu 37 16 70497154 70497154 + Missense_Mutation SNP A A T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:70497154A>T uc002eyy.2 + 2 119 c.61A>T c.(61-63)AGT>TGT p.S21C FUK_uc010vmb.1_Missense_Mutation_p.S21C|FUK_uc010cft.2_Missense_Mutation_p.S21C|FUK_uc002eyz.2_Intron NM_145059 NP_659496 Q8N0W3 FUK_HUMAN fucokinase 21 cytoplasm ATP binding|fucokinase activity ovary(1) 1 Ovarian(137;0.0694) GTACAAGGACAGTGTCCAGGT 0.562 NA 46 33 0 0 0.00361 0 0 HYDIN 54768 broad.mit.edu 37 16 70908800 70908800 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:70908800T>A uc002ezr.2 - 63 10705 c.10577A>T c.(10576-10578)GAG>GTG p.E3526V NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 3527 ovary(1)|skin(1) 2 Ovarian(137;0.0654) GACTCCTAGCTCATCCTGCAG 0.522 NA 21 11 0 0 0.00632 0 0 ZFHX3 463 broad.mit.edu 37 16 72830446 72830446 + Silent SNP T T G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:72830446T>G uc002fck.2 - 9 6808 c.6135A>C c.(6133-6135)CCA>CCC p.P2045P ZFHX3_uc002fcl.2_Silent_p.P1131P NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 2045 Poly-Pro. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) GTGGAGGGGGTGGAGGGGGAG 0.632 NA 11 83 0 0 0.002299 0 0 ZNRF1 84937 broad.mit.edu 37 16 75127513 75127513 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:75127513G>C uc002fdk.2 + 2 1123 c.468G>C c.(466-468)GAG>GAC p.E156D ZNRF1_uc010vmz.1_Missense_Mutation_p.E156D|ZNRF1_uc002fdl.1_Missense_Mutation_p.E156D|ZNRF1_uc010cgr.1_Missense_Mutation_p.E156D NM_032268 NP_115644 Q8ND25 ZNRF1_HUMAN zinc and ring finger protein 1 156 cell junction|endosome|lysosome|synaptic vesicle membrane ligase activity|protein binding|zinc ion binding 0 CTTCTGACGAGATGGAAATGC 0.502 NA 43 31 0 0 0.013114 0 0 BCMO1 53630 broad.mit.edu 37 16 81320966 81320966 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:81320966G>A uc002fgn.1 + 10 1587 c.1369G>A c.(1369-1371)GAA>AAA p.E457K BCMO1_uc010vnp.1_Missense_Mutation_p.E388K NM_017429 NP_059125 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 457 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity 0 CTGGCCAGCGGAACCCCTGTT 0.493 NA 4 106 0 0 0.001984 0 0 MPHOSPH6 10200 broad.mit.edu 37 16 82182995 82182995 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:82182995T>A uc002fgw.2 - 4 318 c.269A>T c.(268-270)CAG>CTG p.Q90L NM_005792 NP_005783 Q99547 MPH6_HUMAN M-phase phosphoprotein 6 90 M phase of mitotic cell cycle|maturation of 5.8S rRNA cytoplasm|nucleolus protein binding|RNA binding 0 AGCATTCATCTGAAGCATCAA 0.433 NA 71 63 0 0 0.00361 0 0 COX4NB 10328 broad.mit.edu 37 16 85814046 85814046 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:85814046C>A uc002fjd.2 - 4 659 c.412G>T c.(412-414)GCG>TCG p.A138S COX4NB_uc010vol.1_Intron NM_006067 NP_006058 O43402 CX4NB_HUMAN COX4 neighbor isoform 1 138 mitochondrion|nucleus 0 ATCGTAGGCGCTACGCAGTCC 0.602 NA 14 41 4.14922e-12 4.82926e-12 0.004007 1 0 BANP 54971 broad.mit.edu 37 16 88039714 88039714 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:88039714G>T uc002fkr.2 + 6 695 c.471G>T c.(469-471)CGG>CGT p.R157R BANP_uc002fkp.2_Silent_p.R127R|BANP_uc002fkq.2_Silent_p.R127R|BANP_uc010vow.1_Silent_p.R165R|BANP_uc002fks.3_Silent_p.R126R|BANP_uc002fko.1_Silent_p.R63R|BANP_uc010vov.1_Silent_p.R132R NM_079837 NP_524576 Q8N9N5 BANP_HUMAN BTG3 associated nuclear protein isoform b 158 Interaction with CUX1 and HDAC1 (By similarity). cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 BRCA - Breast invasive adenocarcinoma(80;0.00551) CTGGGCGTCGGCAGAACACCA 0.612 NA 80 63 5.02048e-33 7.13054e-33 0.00361 1 0 CDH15 1013 broad.mit.edu 37 16 89259965 89259965 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:89259965G>C uc002fmt.2 + 12 2020 c.1943G>C c.(1942-1944)CGA>CCA p.R648P NM_004933 NP_004924 P55291 CAD15_HUMAN cadherin 15 preproprotein 648 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0261) GACGACCTTCGAGACAATGTC 0.672 NA 6 38 0 0 0.001168 0 0 OR1D2 4991 broad.mit.edu 37 17 2995893 2995893 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:2995893G>T uc010vrb.1 - 1 398 c.398C>A c.(397-399)ACC>AAC p.T133N NM_002548 NP_002539 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, 133 Cytoplasmic (Potential). cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity ovary(1) 1 CATGGCTGTGGTGTAGTGGAG 0.552 NA 88 42 8.6838e-40 1.27588e-39 0.00361 1 0 OR1E2 8388 broad.mit.edu 37 17 3336698 3336698 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:3336698G>T uc010vre.1 - 1 438 c.438C>A c.(436-438)AGC>AGA p.S146R NM_003554 NP_003545 P47887 OR1E2_HUMAN olfactory receptor, family 1, subfamily E, 146 Cytoplasmic (Potential). sensory perception of smell integral to plasma membrane olfactory receptor activity large_intestine(1) 1 AGAGCATGGGGCTCATGATGG 0.567 NA 50 26 3.39706e-21 4.39777e-21 0.00361 1 0 ITGAE 3682 broad.mit.edu 37 17 3660400 3660400 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:3660400G>T uc002fwo.3 - 10 1148 c.1049C>A c.(1048-1050)ACT>AAT p.T350N NM_002208 NP_002199 P38570 ITAE_HUMAN integrin, alpha E precursor 350 VWFA.|Extracellular (Potential). cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity large_intestine(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) TTCCCTCGCAGTCCTAGCACT 0.473 NSCLC(182;635 2928 8995 38788) NA 190 109 6.82201e-104 1.08006e-103 0.00361 1 0 DLG4 1742 broad.mit.edu 37 17 7107548 7107548 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:7107548G>A uc002get.3 - 5 1450 c.249C>T c.(247-249)GTC>GTT p.V83V DLG4_uc010vtm.1_5'Flank|DLG4_uc010vtn.1_5'UTR|DLG4_uc010cly.2_Silent_p.V40V|DLG4_uc010vto.1_Silent_p.V83V|DLG4_uc002geu.2_Silent_p.V40V NM_001365 NP_001356 P78352 DLG4_HUMAN post-synaptic density protein 95 isoform 1 40 axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding ovary(1)|breast(1) 2 TATCTGTGTTGACAATCACTG 0.527 NA 15 25 0 0 0.004007 0 0 TP53 7157 broad.mit.edu 37 17 7578461 7578461 + Missense_Mutation SNP C C A rs121912654 TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:7578461C>A uc002gim.2 - 5 663 c.469G>T c.(469-471)GTC>TTC p.V157F TP53_uc002gig.1_Missense_Mutation_p.V157F|TP53_uc002gih.2_Missense_Mutation_p.V157F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V25F|TP53_uc010cng.1_Missense_Mutation_p.V25F|TP53_uc002gii.1_Missense_Mutation_p.V25F|TP53_uc010cnh.1_Missense_Mutation_p.V157F|TP53_uc010cni.1_Missense_Mutation_p.V157F|TP53_uc002gij.2_Missense_Mutation_p.V157F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V64F|TP53_uc002gio.2_Missense_Mutation_p.V25F|TP53_uc010vug.1_Missense_Mutation_p.V118F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 157 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). V -> I (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V157F(139)|p.V157I(10)|p.V157D(8)|p.V157G(7)|p.0?(7)|p.V157L(6)|p.V157V(5)|p.V157fs*13(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.V157A(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATGGCGCGGACGCGGGTGCCG 0.617 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 57 32 4.88482e-21 6.30715e-21 0.00361 1 0 PER1 5187 broad.mit.edu 37 17 8044469 8044469 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:8044469G>C uc002gkd.2 - 23 4028 c.3790C>G c.(3790-3792)CAG>GAG p.Q1264E PER1_uc010cns.2_Missense_Mutation_p.Q138E|PER1_uc010vuq.1_RNA NM_002616 NP_002607 O15534 PER1_HUMAN period 1 1264 CRY binding domain (By similarity). circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 GCCAAGTCCTGAGAGCTTGAA 0.622 NA T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes 72 265 0 0 0.00361 0 0 MYH13 8735 broad.mit.edu 37 17 10265445 10265445 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:10265445G>A uc002gmk.1 - 5 585 c.495C>T c.(493-495)TTC>TTT p.F165F NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 165 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 CAGTCAGCATGAACTGATAGG 0.483 NA 61 213 0 0 0.00361 0 0 MYH4 4622 broad.mit.edu 37 17 10351986 10351986 + Nonsense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:10351986C>A uc002gmn.2 - 32 4591 c.4480G>T c.(4480-4482)GAA>TAA p.E1494* uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1494 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 TCCAGGGATTCCTCGTAGGCA 0.438 NA 66 45 1.34159e-35 1.93918e-35 0.00361 1 0 MYH4 4622 broad.mit.edu 37 17 10360956 10360956 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:10360956G>T uc002gmn.2 - 16 1789 c.1678C>A c.(1678-1680)CTT>ATT p.L560I uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 560 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 GATTTTCCAAGATGTTGTTCA 0.498 NA 15 168 1.05317e-09 1.18497e-09 0.00245 1 0 MYH4 4622 broad.mit.edu 37 17 10367813 10367813 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:10367813C>T uc002gmn.2 - 7 735 c.624G>A c.(622-624)GAG>GAA p.E208E uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 208 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 AGGCAGGTTCCTCTTTTTTCT 0.353 NA 41 24 0 0 0.00623 0 0 MYH1 4619 broad.mit.edu 37 17 10397893 10397893 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:10397893G>C uc002gmo.2 - 38 5658 c.5564C>G c.(5563-5565)ACT>AGT p.T1855S uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1855 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TACTTGGTAAGTGAGTTCCTT 0.378 NA 68 46 0 0 0.00361 0 0 DNAH9 1770 broad.mit.edu 37 17 11593679 11593679 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:11593679G>C uc002gne.2 + 20 4608 c.4540G>C c.(4540-4542)GAA>CAA p.E1514Q DNAH9_uc010coo.2_Missense_Mutation_p.E808Q NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1514 Stem (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) TATCTGGTTTGAAGTGCAGCG 0.493 NA 3 107 0 0 0.004672 0 0 TBC1D26 353149 broad.mit.edu 37 17 15641379 15641379 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:15641379G>T uc010cov.2 + 6 517 c.267G>T c.(265-267)AGG>AGT p.R89S TBC1D26_uc010cou.1_Missense_Mutation_p.R89S|TBC1D26_uc002gpb.3_RNA NM_178571 NP_848666 Q86UD7 TBC26_HUMAN TBC1 domain family, member 26 89 intracellular Rab GTPase activator activity 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078) CAAAATATAGGAGCACCAAGA 0.527 NA 7 144 0.000442599 0.000458023 0.006214 1 0 COPS3 8533 broad.mit.edu 37 17 17174123 17174123 + Splice_Site SNP T T C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:17174123T>C uc002grd.2 - 4 390 c.299_splice c.e4-1 p.F100_splice COPS3_uc010vwv.1_Splice_Site_p.F80_splice|COPS3_uc010vww.1_Splice_Site NM_003653 NP_003644 Q9UNS2 CSN3_HUMAN COP9 constitutive photomorphogenic homolog cullin deneddylation|response to light stimulus|signal transduction cytoplasm|signalosome protein binding skin(1) 1 GCCCAGCAACTAGATACAATA 0.294 NA 3 8 0 0 0.004672 0 0 ULK2 9706 broad.mit.edu 37 17 19705183 19705183 + Nonsense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:19705183C>A uc002gwm.3 - 16 1857 c.1348G>T c.(1348-1350)GGA>TGA p.G450* ULK2_uc002gwn.2_Nonsense_Mutation_p.G450* NM_001142610 NP_001136082 Q8IYT8 ULK2_HUMAN unc-51-like kinase 2 450 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity skin(2)|large_intestine(1)|stomach(1) 4 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) GAGCATGATCCCGGCCGGAGG 0.502 NA 85 328 9.24773e-40 1.3567e-39 0.00361 1 0 EFCAB5 374786 broad.mit.edu 37 17 28405430 28405430 + Silent SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:28405430C>A uc002het.2 + 15 3127 c.2935C>A c.(2935-2937)CGG>AGG p.R979R EFCAB5_uc010cse.2_Silent_p.R734R|EFCAB5_uc010csf.2_Intron NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 979 calcium ion binding ovary(1)|skin(1) 2 TTCTGCCAGGCGGAAATGGCT 0.493 NA 56 114 1.11015e-26 1.51525e-26 0.00361 1 0 TMIGD1 388364 broad.mit.edu 37 17 28651841 28651841 + Silent SNP A A T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:28651841A>T uc002hfa.1 - 4 706 c.633T>A c.(631-633)ATT>ATA p.I211I TMIGD1_uc010csh.1_Silent_p.I211I NM_206832 NP_996663 Q6UXZ0 TMIG1_HUMAN transmembrane and immunoglobulin domain 211 Extracellular (Potential). integral to membrane 0 TACCTTTAACAATCAGGTGAA 0.274 NA 32 92 0 0 0.009535 0 0 TMEM98 26022 broad.mit.edu 37 17 31263396 31263396 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:31263396C>G uc002hhq.2 + 6 802 c.344C>G c.(343-345)TCT>TGT p.S115C TMEM98_uc002hhr.2_Missense_Mutation_p.S115C NM_015544 NP_056359 Q9Y2Y6 TMM98_HUMAN transmembrane protein 98 115 endoplasmic reticulum|integral to membrane 0 Ovarian(249;0.182)|Breast(31;0.244) BRCA - Breast invasive adenocarcinoma(9;0.0769) ACAATGGGCTCTGGGGCCAAG 0.572 NA 6 182 0 0 0.00308 0 0 UNC45B 146862 broad.mit.edu 37 17 33475423 33475423 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:33475423G>T uc002hja.2 + 2 238 c.141G>T c.(139-141)CGG>CGT p.R47R UNC45B_uc002hjb.2_Silent_p.R47R|UNC45B_uc002hjc.2_Silent_p.R47R|UNC45B_uc010cto.2_Silent_p.R47R NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN cardiomyopathy associated 4 isoform 1 47 TPR 2. cell differentiation|muscle organ development cytosol binding ovary(3)|central_nervous_system(2)|breast(1) 6 Ovarian(249;0.17) CGCTTTATCGGAACCGGGCAG 0.637 NA 23 56 5.45024e-15 6.56978e-15 0.00333 1 0 UNC45B 146862 broad.mit.edu 37 17 33501353 33501353 + Silent SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:33501353C>A uc002hja.2 + 14 2026 c.1929C>A c.(1927-1929)GCC>GCA p.A643A UNC45B_uc002hjb.2_Silent_p.A641A|UNC45B_uc002hjc.2_Silent_p.A641A|UNC45B_uc010cto.2_Silent_p.A562A NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN cardiomyopathy associated 4 isoform 1 643 cell differentiation|muscle organ development cytosol binding ovary(3)|central_nervous_system(2)|breast(1) 6 Ovarian(249;0.17) CAGATAGTGCCATCCTCACTG 0.602 NA 48 99 1.02687e-29 1.42742e-29 0.013114 1 0 ACACA 31 broad.mit.edu 37 17 35609868 35609868 + Nonsense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:35609868G>A uc002hnm.2 - 15 2001 c.1810C>T c.(1810-1812)CAG>TAG p.Q604* ACACA_uc002hnk.2_Nonsense_Mutation_p.Q526*|ACACA_uc002hnl.2_Nonsense_Mutation_p.Q546*|ACACA_uc002hnn.2_Nonsense_Mutation_p.Q604*|ACACA_uc002hno.2_Nonsense_Mutation_p.Q641*|ACACA_uc010cuz.2_Nonsense_Mutation_p.Q604* NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 604 Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CTGTTCATCTGAAAGCTTTCA 0.423 Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249) NA 10 201 0 0 0.006214 0 0 MLLT6 4302 broad.mit.edu 37 17 36874193 36874193 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:36874193G>A uc002hqi.3 + 12 1942 c.1929G>A c.(1927-1929)GAG>GAA p.E643E MLLT6_uc002hqj.2_Silent_p.E78E|MLLT6_uc002hqk.3_5'Flank NM_005937 NP_005928 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia 643 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|prostate(1)|lung(1)|skin(1) 6 Breast(7;4.43e-21) CCCAAGCTGAGAGCAGCCACA 0.537 NA T MLL AL 68 122 0 0 0.00361 0 0 THRA 7067 broad.mit.edu 37 17 38233829 38233829 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:38233829C>T uc002htw.2 + 4 673 c.190C>T c.(190-192)CAC>TAC p.H64Y THRA_uc010cwp.1_Missense_Mutation_p.H64Y|THRA_uc002htv.2_Missense_Mutation_p.H64Y|THRA_uc002htx.2_Missense_Mutation_p.H64Y NM_003250 NP_003241 P10827 THA_HUMAN thyroid hormone receptor, alpha isoform 2 64 Nuclear receptor.|NR C4-type. negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding 0 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) AACTGGTTATCACTACCGCTG 0.542 NA 72 154 0 0 0.00361 0 0 KRT9 3857 broad.mit.edu 37 17 39723617 39723617 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:39723617C>T uc002hxe.3 - 7 1846 c.1780G>A c.(1780-1782)GGT>AGT p.G594S JUP_uc010wfs.1_Intron NM_000226 NP_000217 P35527 K1C9_HUMAN keratin 9 594 Tail. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|pancreas(1) 3 Breast(137;0.000307) ccactttcacctccaaaacca 0.05 NA 6 31 0 0 0.004482 0 0 PLEKHH3 79990 broad.mit.edu 37 17 40820147 40820147 + Nonstop_Mutation SNP A A T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:40820147A>T uc002iau.2 - 13 2847 c.2380T>A c.(2380-2382)TGA>AGA p.*794R PLEKHH3_uc010cyl.1_RNA|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Nonstop_Mutation_p.*155R|PLEKHH3_uc002iaw.2_3'UTR NM_024927 NP_079203 Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H 794 signal transduction cytoskeleton large_intestine(1)|ovary(1) 2 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) TGGCAGGCTCAGTCCTGCAGC 0.652 NA 8 20 0 0 0.00308 0 0 RUNDC3A 10900 broad.mit.edu 37 17 42390611 42390611 + Silent SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:42390611C>A uc002igl.3 + 3 637 c.363C>A c.(361-363)GCC>GCA p.A121A RUNDC3A_uc002igi.2_Silent_p.A121A|RUNDC3A_uc002igj.2_Silent_p.A116A|RUNDC3A_uc002igk.2_Silent_p.A117A NM_001144825 NP_001138297 Q59EK9 RUN3A_HUMAN RUN domain containing 3A isoform 1 121 Interaction with RAP2A (By similarity).|RUN. small GTPase mediated signal transduction small GTPase regulator activity 0 Prostate(33;0.0233) BRCA - Breast invasive adenocarcinoma(366;0.189) TCAGCACAGCCCGGGCCAAGG 0.602 Pancreas(82;1061 1416 11136 20771 23901) NA 23 58 7.92952e-12 9.19637e-12 0.003954 1 0 HOXB8 3218 broad.mit.edu 37 17 46690639 46690639 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:46690639C>A uc002inw.2 - 2 892 c.657G>T c.(655-657)GAG>GAT p.E219D HOXB7_uc002inv.2_5'Flank NM_024016 NP_076921 P17481 HXB8_HUMAN homeobox B8 219 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GTTTCTCCAGCTCCTCCTGCT 0.552 NA 90 126 9.54843e-35 1.3761e-34 0.00361 1 0 ANKRD40 91369 broad.mit.edu 37 17 48777142 48777142 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:48777142G>C uc002iso.2 - 3 651 c.396C>G c.(394-396)ATC>ATG p.I132M NM_052855 NP_443087 Q6AI12 ANR40_HUMAN ankyrin repeat domain 40 132 0 BRCA - Breast invasive adenocarcinoma(22;2.03e-09) TGGGTGTATAGATAAAAGGGA 0.507 NA 8 110 0 0 0.004482 0 0 HLF 3131 broad.mit.edu 37 17 53398080 53398080 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:53398080G>T uc002iug.1 + 4 1253 c.728G>T c.(727-729)CGC>CTC p.R243L HLF_uc010dce.1_Missense_Mutation_p.R158L|HLF_uc002iuh.2_Missense_Mutation_p.R158L|HLF_uc010wni.1_Missense_Mutation_p.R190L NM_002126 NP_002117 Q16534 HLF_HUMAN hepatic leukemia factor 243 Basic motif. multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 AAGCGCTCCCGCGACGCCCGG 0.547 NA T TCF3 ALL 10 65 1.58986e-06 1.70841e-06 0.008291 1 0 ANKFN1 162282 broad.mit.edu 37 17 54543802 54543802 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:54543802G>T uc002iun.1 + 14 1687 c.1652G>T c.(1651-1653)AGG>ATG p.R551M NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 551 large_intestine(1)|ovary(1) 2 GTCACCATCAGGGAGGTGGAG 0.413 NA 49 62 1.23713e-20 1.59315e-20 0.00361 1 0 HELZ 9931 broad.mit.edu 37 17 65163772 65163772 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:65163772C>T uc010wqk.1 - 14 1758 c.1571G>A c.(1570-1572)GGA>GAA p.G524E HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.G524E NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) CACCAGTCGTCCAGCCAAAGT 0.418 NA 7 105 0 0 0.001984 0 0 ABCA10 10349 broad.mit.edu 37 17 67170883 67170883 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:67170883G>A uc010dfa.1 - 25 3792 c.2913C>T c.(2911-2913)CTC>CTT p.L971L ABCA10_uc010wqs.1_Intron|ABCA10_uc010wqt.1_RNA NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 971 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) CTGAAGGCCAGAGGCCTGAAA 0.368 NA 7 196 0 0 0.001984 0 0 LLGL2 3993 broad.mit.edu 37 17 73559175 73559175 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:73559175G>A uc002joh.2 + 7 763 c.609G>A c.(607-609)CAG>CAA p.Q203Q LLGL2_uc002jog.1_Silent_p.Q203Q|LLGL2_uc010dgf.1_Silent_p.Q203Q|LLGL2_uc002joi.2_Silent_p.Q203Q|LLGL2_uc010dgg.1_Silent_p.Q203Q|LLGL2_uc002joj.2_Silent_p.Q192Q|LLGL2_uc010wsd.1_5'Flank|uc002jok.2_5'Flank NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 isoform c 203 WD 4. cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding ovary(2) 2 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) ACCCCAACCAGATCCTGATCG 0.657 NA 14 63 0 0 0.001855 0 0 UNC13D 201294 broad.mit.edu 37 17 73831096 73831096 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:73831096G>C uc002jpp.2 - 21 2277 c.1897C>G c.(1897-1899)CTA>GTA p.L633V UNC13D_uc010wsk.1_Missense_Mutation_p.L633V|UNC13D_uc002jpq.1_Missense_Mutation_p.L283V NM_199242 NP_954712 Q70J99 UN13D_HUMAN unc-13 homolog D 633 MHD1. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding upper_aerodigestive_tract(1)|skin(1) 2 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) CAGGTGGATAGATCCACCGCT 0.592 NA Familial_Hemophagocytic_Lymphohistiocytosis 17 112 0 0 0.004007 0 0 AZI1 22994 broad.mit.edu 37 17 79166565 79166565 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:79166565C>T uc002jzp.1 - 19 2609 c.2409G>A c.(2407-2409)GAG>GAA p.E803E AZI1_uc002jzm.1_Silent_p.E230E|AZI1_uc002jzn.1_Silent_p.E800E|AZI1_uc002jzo.1_Intron|AZI1_uc010wum.1_Intron|AZI1_uc002jzq.2_Intron NM_014984 NP_055799 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 isoform a 803 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle central_nervous_system(2)|large_intestine(1)|ovary(1) 4 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) GCCGCTCCCTCTCCTCAGCCA 0.547 NA 4 38 0 0 0.000602 0 0 AZI1 22994 broad.mit.edu 37 17 79166570 79166570 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:79166570C>G uc002jzp.1 - 19 2604 c.2404G>C c.(2404-2406)GAG>CAG p.E802Q AZI1_uc002jzm.1_Missense_Mutation_p.E229Q|AZI1_uc002jzn.1_Missense_Mutation_p.E799Q|AZI1_uc002jzo.1_Intron|AZI1_uc010wum.1_Intron|AZI1_uc002jzq.2_Intron NM_014984 NP_055799 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 isoform a 802 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle central_nervous_system(2)|large_intestine(1)|ovary(1) 4 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) TCCCTCTCCTCAGCCACCTCA 0.547 NA 4 38 0 0 0.000602 0 0 CCDC57 284001 broad.mit.edu 37 17 80137053 80137053 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:80137053C>T uc002kdz.1 - 10 1579 c.1224G>A c.(1222-1224)CAG>CAA p.Q408Q CCDC57_uc002kdx.1_Silent_p.Q408Q|CCDC57_uc010dik.1_Intron NM_198082 NP_932348 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 408 Potential. ovary(2) 2 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) CCAGGGACAGCTGTTGCTTGT 0.587 NA 13 58 0 0 0.001368 0 0 TMEM200C 645369 broad.mit.edu 37 18 5891789 5891789 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr18:5891789C>A uc002kmx.1 - 1 315 c.274G>T c.(274-276)GCG>TCG p.A92S NM_001080209 NP_001073678 A6NKL6 T200C_HUMAN transmembrane protein 200C 92 integral to membrane 0 CTGCTGCCCGCAGGCGGCAGC 0.672 NA 59 31 2.69953e-25 3.63899e-25 0.00361 1 0 CEP192 55125 broad.mit.edu 37 18 13030463 13030463 + Splice_Site SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr18:13030463G>C uc010xac.1 + 11 1471 c.1391_splice c.e11-1 p.K464_splice CEP192_uc010dlf.1_Splice_Site|CEP192_uc010xad.1_Splice_Site_p.K59_splice|CEP192_uc002kru.2_Splice_Site|CEP192_uc002krs.1_Intron NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa ovary(4)|pancreas(1) 5 TTATTTTTTAGAAACAGATCT 0.308 NA 6 13 0 0 0.001168 0 0 ANKRD29 147463 broad.mit.edu 37 18 21192080 21192080 + Silent SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr18:21192080C>A uc002kun.2 - 9 955 c.798G>T c.(796-798)GGG>GGT p.G266G ANKRD29_uc002kuo.2_Intron NM_173505 NP_775776 Q8N6D5 ANR29_HUMAN ankyrin repeat domain 29 266 ANK 8. ovary(3)|breast(1) 4 all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127) ATGGGTCTGCCCCTGCTTCTA 0.488 NA 61 70 5.82218e-30 8.10474e-30 0.00361 1 0 ZNF521 25925 broad.mit.edu 37 18 22804919 22804919 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr18:22804919C>G uc002kvk.2 - 4 3210 c.2963G>C c.(2962-2964)GGA>GCA p.G988A ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.G988A|ZNF521_uc002kvl.2_Missense_Mutation_p.G768A NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 988 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) CCGGCAGTTTCCAGTATCAAG 0.473 NA T PAX5 ALL 59 113 0 0 0.00361 0 0 DSG4 147409 broad.mit.edu 37 18 28991203 28991204 + Missense_Mutation DNP CC CC AG TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr18:28991203_28991204CC>AG uc002kwq.2 + 15 2282_2283 c.2147_2148CC>AG c.(2146-2148)ACC>AAG p.T716K DSG4_uc002kwr.2_Missense_Mutation_p.T735K NM_177986 NP_817123 Q86SJ6 DSG4_HUMAN desmoglein 4 isoform 2 preproprotein 716 Cytoplasmic (Potential). homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(3) 8 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GAAATCTACACCAACACCTATG 0.554 NA 62 65 0 0 0.004672 0 0 ASXL3 80816 broad.mit.edu 37 18 31324568 31324568 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr18:31324568C>G uc010dmg.1 + 12 4811 c.4756C>G c.(4756-4758)CCA>GCA p.P1586A ASXL3_uc002kxq.2_Missense_Mutation_p.P1293A NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1586 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 GGCACGTGGCCCAGCTCCTTT 0.498 NA OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 5 0 0 0.004656 0 0 DTNA 1837 broad.mit.edu 37 18 32391950 32391950 + Missense_Mutation SNP G G T rs147115867 by1000genomes TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr18:32391950G>T uc010dmn.1 + 5 477 c.476G>T c.(475-477)AGT>ATT p.S159I DTNA_uc002kxu.2_Missense_Mutation_p.S159I|DTNA_uc010xbx.1_Missense_Mutation_p.S159I|DTNA_uc002kxv.3_Missense_Mutation_p.S159I|DTNA_uc002kxw.2_Missense_Mutation_p.S159I|DTNA_uc002kxx.2_Missense_Mutation_p.S159I|DTNA_uc010dmj.2_Missense_Mutation_p.S159I|DTNA_uc002kxz.2_Missense_Mutation_p.S159I|DTNA_uc002kxy.2_Missense_Mutation_p.S159I|DTNA_uc010dmk.1_RNA|DTNA_uc010dml.2_Missense_Mutation_p.S159I|DTNA_uc002kyb.3_Missense_Mutation_p.S159I|DTNA_uc010dmm.2_Missense_Mutation_p.S159I NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN dystrobrevin alpha isoform 1 159 Interaction with MAGEE1 (By similarity). neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding 0 TCTGACTCCAGTGGGGTGATG 0.383 NA 32 24 2.08457e-15 2.53459e-15 0.010818 1 0 TCEB3B 51224 broad.mit.edu 37 18 44559566 44559566 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr18:44559566G>C uc002lcr.1 - 1 2423 c.2070C>G c.(2068-2070)AGC>AGG p.S690R KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 690 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 caccgccgctgctgctCTGGC 0.537 NA 61 39 0 0 0.00361 0 0 ME2 4200 broad.mit.edu 37 18 48422209 48422209 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr18:48422209G>A uc002ley.2 + 2 275 c.19G>A c.(19-21)GTA>ATA p.V7I ME2_uc010dpd.2_Missense_Mutation_p.V7I NM_002396 NP_002387 P23368 MAOM_HUMAN malic enzyme 2, NAD(+)-dependent, mitochondrial 7 malate metabolic process mitochondrial matrix electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding 0 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) CCGGTTAAGAGTAGTTTCCAC 0.388 NA 28 17 0 0 0.00632 0 0 TCF4 6925 broad.mit.edu 37 18 52942913 52942913 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr18:52942913C>A uc002lfz.2 - 10 1338 c.726G>T c.(724-726)TTG>TTT p.L242F TCF4_uc002lfw.3_Missense_Mutation_p.L82F|TCF4_uc010xdu.1_Missense_Mutation_p.L112F|TCF4_uc010xdv.1_Missense_Mutation_p.L112F|TCF4_uc002lfx.2_Missense_Mutation_p.L171F|TCF4_uc010xdw.1_Missense_Mutation_p.L112F|TCF4_uc002lfy.2_Missense_Mutation_p.L200F|TCF4_uc010xdx.1_Missense_Mutation_p.L218F|TCF4_uc010dph.1_Missense_Mutation_p.L242F|TCF4_uc010xdy.1_Missense_Mutation_p.L218F|TCF4_uc002lga.2_Missense_Mutation_p.L344F|TCF4_uc002lgb.1_Missense_Mutation_p.L82F|TCF4_uc010dpi.2_Missense_Mutation_p.L248F|TCF4_uc002lgc.3_Missense_Mutation_p.L163F|TCF4_uc002lfv.2_Missense_Mutation_p.L26F NM_003199 NP_003190 P15884 ITF2_HUMAN transcription factor 4 isoform b 242 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding ovary(1)|lung(1) 2 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) AAGAGTTGCCCAACATTCCTG 0.502 NA 137 131 5.40711e-61 8.35799e-61 0.00361 1 0 SERPINB5 5268 broad.mit.edu 37 18 61154262 61154262 + Nonsense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr18:61154262C>A uc002liz.3 + 3 394 c.252C>A c.(250-252)TAC>TAA p.Y84* SERPINB5_uc002liy.2_Nonsense_Mutation_p.Y84* NM_002639 NP_002630 P36952 SPB5_HUMAN serine (or cysteine) proteinase inhibitor, clade 84 cellular component movement|regulation of proteolysis cytoplasm|extracellular space protein binding|serine-type endopeptidase inhibitor activity ovary(1) 1 GTTCCTTTTACTCACTGAAAC 0.338 NA 47 29 1.00776e-21 1.31155e-21 0.00361 1 0 SERPINB3 6317 broad.mit.edu 37 18 61323253 61323253 + Missense_Mutation SNP T T G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr18:61323253T>G uc002lji.2 - 8 955 c.811A>C c.(811-813)AGT>CGT p.S271R SERPINB4_uc002ljg.2_Intron|SERPINB3_uc010dqa.2_Missense_Mutation_p.S219R NM_006919 NP_008850 P29508 SPB3_HUMAN serine (or cysteine) proteinase inhibitor, clade 271 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(1)|central_nervous_system(1)|skin(1) 3 TTCTGCAAACTTGTCCATTCC 0.388 NA 15 70 0 0 0.003163 0 0 ATP9B 374868 broad.mit.edu 37 18 77105831 77105831 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr18:77105831G>A uc002lmx.2 + 23 2688 c.2674G>A c.(2674-2676)GAG>AAG p.E892K ATP9B_uc002lmw.1_Missense_Mutation_p.E892K|ATP9B_uc002lmz.1_Missense_Mutation_p.E586K|ATP9B_uc002lna.2_5'UTR|ATP9B_uc002lnb.1_Missense_Mutation_p.E12K|ATP9B_uc010drb.2_5'Flank NM_198531 NP_940933 O43861 ATP9B_HUMAN ATPase, class II, type 9B 892 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3) 3 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) GATTGGGATTGAGGGAAAGGT 0.468 NA 57 183 0 0 0.00361 0 0 POLR2E 5434 broad.mit.edu 37 19 1094056 1094056 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:1094056G>C uc002lre.3 - 2 156 c.79C>G c.(79-81)CTG>GTG p.L27V POLR2E_uc010xgf.1_Intron NM_002695 NP_002686 P19388 RPAB1_HUMAN DNA directed RNA polymerase II polypeptide E 27 interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGGTCACCAGATAGCCACGG 0.637 NA 11 45 0 0 0.001368 0 0 DAZAP1 26528 broad.mit.edu 37 19 1434826 1434826 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:1434826G>T uc002lsn.2 + 12 1328 c.1139G>T c.(1138-1140)GGG>GTG p.G380V DAZAP1_uc002lsm.2_3'UTR|DAZAP1_uc002lso.2_Missense_Mutation_p.G379V|DAZAP1_uc002lsl.1_Missense_Mutation_p.G379V NM_018959 NP_061832 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 isoform b 380 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(1) 1 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCGTGCCAGGGTcggggggc 0.592 NA 22 18 1.22574e-08 1.35121e-08 0.002299 1 0 C19orf34 255193 broad.mit.edu 37 19 1954019 1954019 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:1954019G>T uc002lum.2 - 2 473 c.16C>A c.(16-18)CCT>ACT p.P6T CSNK1G2_uc002lul.3_Intron NM_152771 NP_689984 chromosome 19 open reading frame 34 0 Ovarian(11;0.000137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGCTCCGAGGACCGGCCCTG 0.637 NA 122 99 1.22182e-49 1.84782e-49 0.00361 1 0 HDGFRP2 84717 broad.mit.edu 37 19 4498882 4498882 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:4498882G>A uc002mao.2 + 13 1638 c.1545G>A c.(1543-1545)AAG>AAA p.K515K HDGFRP2_uc002map.2_Silent_p.K515K|HDGFRP2_uc010dtz.1_RNA|HDGFRP2_uc010dua.2_5'Flank|HDGFRP2_uc002maq.1_5'Flank NM_001001520 NP_001001520 Q7Z4V5 HDGR2_HUMAN hepatoma-derived growth factor-related protein 2 515 transcription, DNA-dependent nucleus DNA binding|protein binding 0 TCCTCCAGAAGAACACAGACG 0.637 NA 7 21 0 0 0.00308 0 0 TUBB4 10382 broad.mit.edu 37 19 6495195 6495195 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:6495195C>A uc002mfg.1 - 4 1422 c.1315G>T c.(1315-1317)GCG>TCG p.A439S TUBB4_uc002mff.1_Missense_Mutation_p.A367S|MIR220B_hsa-mir-220b|MI0005529_5'Flank NM_006087 NP_006078 P04350 TBB4_HUMAN tubulin, beta 4 439 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(2) 2 Hepatocellular(1079;0.00213)|Renal(1328;0.0183) Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155) TCCTCCTCCGCCTCCTCCTCG 0.617 NA 64 32 5.10508e-28 7.04645e-28 0.00361 1 0 TRIP10 9322 broad.mit.edu 37 19 6750366 6750366 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:6750366G>A uc002mfs.2 + 13 1525 c.1459G>A c.(1459-1461)GCC>ACC p.A487T TRIP10_uc010dux.1_Missense_Mutation_p.A431T|TRIP10_uc002mfr.2_Missense_Mutation_p.A431T|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Missense_Mutation_p.A250T NM_004240 NP_004231 Q15642 CIP4_HUMAN thyroid hormone receptor interactor 10 487 Interaction with CDC42.|Interaction with PDE6G (By similarity).|Interaction with DNM2 and WASL (By similarity).|Required for interaction with FASLG and localization to lysosomes. ARPPDPPASAPPD -> KHPIICRLIHFSN (in Ref. 10; AAC41729). actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup GTPase activator activity|identical protein binding|lipid binding ovary(1) 1 GAGCCGGCACGCCCGGCCTCC 0.657 NA 7 105 0 0 0.001984 0 0 MYO1F 4542 broad.mit.edu 37 19 8615449 8615449 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:8615449C>A uc002mkg.2 - 9 1015 c.901G>T c.(901-903)GAC>TAC p.D301Y MYO1F_uc002mkh.2_Missense_Mutation_p.D301Y NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 301 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 CACTCACGGTCCACACTCTCC 0.612 NA 33 19 7.11191e-15 8.52038e-15 0.002836 1 0 MUC16 94025 broad.mit.edu 37 19 9009594 9009594 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:9009594C>A uc002mkp.2 - 39 39336 c.39132G>T c.(39130-39132)CAG>CAT p.Q13044H MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13046 Extracellular (Potential).|SEA 7. 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 TAACCAGACCCTGCAGGACCC 0.552 NA 145 75 2.78738e-67 4.36363e-67 0.00361 1 0 MUC16 94025 broad.mit.edu 37 19 9049824 9049824 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:9049824G>T uc002mkp.2 - 5 32011 c.31807C>A c.(31807-31809)CCT>ACT p.P10603T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10605 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 GTCTCTGCAGGATGGATAACC 0.478 NA 88 44 6.31949e-53 9.6017e-53 0.00361 1 0 MUC16 94025 broad.mit.edu 37 19 9073419 9073419 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:9073419G>A uc002mkp.2 - 3 14231 c.14027C>T c.(14026-14028)ACC>ATC p.T4676I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4678 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 GGTCATGTGGGTAGATATTGT 0.468 NA 107 74 0 0 0.00361 0 0 OR7E24 26648 broad.mit.edu 37 19 9362033 9362033 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:9362033C>A uc002mlb.1 + 1 314 c.314C>A c.(313-315)ACT>AAT p.T105N NM_001079935 NP_001073404 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, 105 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GACATGCAAACTCACAGCAGA 0.498 NA 58 27 3.31993e-32 4.69485e-32 0.00361 1 0 S1PR2 9294 broad.mit.edu 37 19 10334521 10334521 + Nonstop_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:10334521C>G uc002mnl.2 - 2 1172 c.1061G>C c.(1060-1062)TGA>TCA p.*354S NM_004230 NP_004221 O95136 S1PR2_HUMAN endothelial differentiation, sphingolipid 354 activation of MAPK activity|positive regulation of cell proliferation integral to membrane|plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity lung(1)|central_nervous_system(1) 2 CCCCCACCCTCAGACCACCGT 0.652 Pancreas(194;229 3020 15179 45747) NA 14 41 0 0 0.003163 0 0 CDKN2D 1032 broad.mit.edu 37 19 10677815 10677815 + Silent SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:10677815G>C uc002mpa.2 - 2 722 c.420C>G c.(418-420)CTC>CTG p.L140L KRI1_uc002mox.1_5'Flank|KRI1_uc002moy.1_5'Flank|CDKN2D_uc002mpb.2_Silent_p.L140L NM_001800 NP_001791 P55273 CDN2D_HUMAN cyclin-dependent kinase inhibitor 2D 140 ANK 4. anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding 0 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) CCAAGGGTGTGAGACCCCTGG 0.612 NA Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System 27 92 0 0 0.004656 0 0 ZNF791 163049 broad.mit.edu 37 19 12735466 12735466 + Nonsense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:12735466G>T uc002mua.2 + 3 295 c.133G>T c.(133-135)GAA>TAA p.E45* ZNF791_uc010xml.1_Nonsense_Mutation_p.E13*|ZNF791_uc010dyu.1_Intron|ZNF791_uc010xmm.1_5'UTR NM_153358 NP_699189 Q3KP31 ZN791_HUMAN zinc finger protein 791 45 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CATTTTAGGGGAAAAATGGGA 0.323 NA 6 18 0.00116845 0.00119778 0.001168 1 0 AKAP8L 26993 broad.mit.edu 37 19 15508056 15508056 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:15508056C>A uc002naw.1 - 12 1540 c.1441G>T c.(1441-1443)GCA>TCA p.A481S AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Missense_Mutation_p.A420S NM_014371 NP_055186 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 481 cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding ovary(1) 1 CAATGGGCTGCCTCCACCTTC 0.547 NA 68 32 3.45129e-13 4.06522e-13 0.00361 1 0 CYP4F22 126410 broad.mit.edu 37 19 15648351 15648351 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:15648351G>T uc002nbh.3 + 6 594 c.427G>T c.(427-429)GGG>TGG p.G143W NM_173483 NP_775754 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, 143 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ovary(1)|pancreas(1) 2 CCCAGGGGATGGGCTGCTGCT 0.557 NA 64 32 2.36135e-34 3.38818e-34 0.00361 1 0 CYP4F8 11283 broad.mit.edu 37 19 15734818 15734818 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:15734818C>A uc002nbi.2 + 11 1093 c.1029C>A c.(1027-1029)AAC>AAA p.N343K CYP4F8_uc010xoj.1_Missense_Mutation_p.N155K NM_007253 NP_009184 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, 343 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding large_intestine(1) 1 TCTTGTACAACCTCGCGAGGC 0.602 NA 48 30 2.64894e-19 3.34101e-19 0.00361 1 0 PGLS 25796 broad.mit.edu 37 19 17628119 17628119 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:17628119C>T uc002ngw.2 + 3 469 c.419C>T c.(418-420)CCG>CTG p.P140L NM_012088 NP_036220 O95336 6PGL_HUMAN 6-phosphogluconolactonase 140 cytosol 6-phosphogluconolactonase activity 0 GACTCCATCCCGGTTTTCGAC 0.612 NA 155 91 0 0 0.00361 0 0 ZNF208 7757 broad.mit.edu 37 19 22157605 22157605 + Missense_Mutation SNP T T C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:22157605T>C uc002nqp.2 - 4 380 c.231A>G c.(229-231)ATA>ATG p.I77M ZNF208_uc002nqo.1_Missense_Mutation_p.I77M|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) AATGAGAACATATAACTGAAA 0.294 NA 30 13 0 0 0.007291 0 0 KCTD15 79047 broad.mit.edu 37 19 34291390 34291390 + Missense_Mutation SNP T T C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:34291390T>C uc002nuy.3 + 3 299 c.31T>C c.(31-33)TCC>CCC p.S11P KCTD15_uc002nuv.2_Missense_Mutation_p.S11P|KCTD15_uc002nuw.3_Missense_Mutation_p.S11P|KCTD15_uc010xrt.1_Missense_Mutation_p.S11P|KCTD15_uc002nux.3_Missense_Mutation_p.S11P NM_001129994 NP_001123466 Q96SI1 KCD15_HUMAN potassium channel tetramerisation domain 11 voltage-gated potassium channel complex voltage-gated potassium channel activity pancreas(1) 1 Esophageal squamous(110;0.162) GCCGAGCGGGTCCTCGCTTCA 0.637 Melanoma(36;646 1094 5145 14504 45302)|GBM(25;193 541 1518 14388 52178) NA 9 52 0 0 0.008291 0 0 TMEM149 79713 broad.mit.edu 37 19 36230869 36230869 + Nonsense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:36230869G>A uc002obc.2 - 4 564 c.463C>T c.(463-465)CAG>TAG p.Q155* TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Nonsense_Mutation_p.Q155*|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Nonsense_Mutation_p.Q235* NM_024660 NP_078936 Q9H665 IGFR1_HUMAN transmembrane protein 149 precursor 155 Extracellular (Potential). integral to membrane|plasma membrane protein binding|receptor activity 0 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CAGGCCTGCTGAGGGACAGGC 0.622 NA 25 163 0 0 0.004656 0 0 APLP1 333 broad.mit.edu 37 19 36362795 36362795 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:36362795G>T uc002oce.2 + 6 845 c.707G>T c.(706-708)AGA>ATA p.R236I APLP1_uc010xsz.1_Missense_Mutation_p.R197I|APLP1_uc002ocf.2_Missense_Mutation_p.R236I|APLP1_uc002ocg.2_Missense_Mutation_p.R139I|APLP1_uc010xta.1_Missense_Mutation_p.R230I NM_005166 NP_005157 P51693 APLP1_HUMAN amyloid precursor-like protein 1 isoform 2 236 Extracellular (Potential). apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding ovary(2) 2 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCGGGGAGCAGAGTAGAGGGG 0.632 NA 35 245 9.17885e-22 1.19777e-21 0.003271 1 0 APLP1 333 broad.mit.edu 37 19 36362806 36362806 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:36362806G>T uc002oce.2 + 6 856 c.718G>T c.(718-720)GCT>TCT p.A240S APLP1_uc010xsz.1_Missense_Mutation_p.A201S|APLP1_uc002ocf.2_Missense_Mutation_p.A240S|APLP1_uc002ocg.2_Missense_Mutation_p.A143S|APLP1_uc010xta.1_Missense_Mutation_p.A234S NM_005166 NP_005157 P51693 APLP1_HUMAN amyloid precursor-like protein 1 isoform 2 240 Extracellular (Potential). apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding ovary(2) 2 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AGTAGAGGGGGCTGAGGACGA 0.642 NA 36 278 6.05902e-23 8.00248e-23 0.003755 1 0 ZNF585B 92285 broad.mit.edu 37 19 37676971 37676971 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:37676971C>G uc002ofq.2 - 5 1722 c.1468G>C c.(1468-1470)GGA>CGA p.G490R uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Missense_Mutation_p.G304R NM_152279 NP_689492 Q52M93 Z585B_HUMAN zinc finger protein 585B 490 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GATTTCTCTCCTGTATGAGTT 0.408 Melanoma(93;882 1454 18863 28917 48427) NA 162 130 0 0 0.00361 0 0 ZNF607 84775 broad.mit.edu 37 19 38190240 38190240 + Silent SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:38190240G>C uc002ohc.1 - 5 1388 c.792C>G c.(790-792)CTC>CTG p.L264L ZNF607_uc002ohb.1_Silent_p.L263L NM_032689 NP_116078 Q96SK3 ZN607_HUMAN zinc finger protein 607 264 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) GGCCTGCTTTGAGCCTAAAGG 0.448 NA 14 104 0 0 0.001855 0 0 CATSPERG 57828 broad.mit.edu 37 19 38852329 38852329 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:38852329C>G uc002oih.3 + 17 2009 c.1922C>G c.(1921-1923)TCG>TGG p.S641W CATSPERG_uc002oig.3_Missense_Mutation_p.S601W|CATSPERG_uc002oif.3_Missense_Mutation_p.S281W|CATSPERG_uc010efw.2_RNA NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN cation channel, sperm-associated, gamma 641 Extracellular (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(1)|skin(1) 2 TGCCCCTTCTCGGTGATGCGC 0.682 NA 3 146 0 0 0.004672 0 0 RYR1 6261 broad.mit.edu 37 19 38946102 38946102 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:38946102C>A uc002oit.2 + 15 1718 c.1588C>A c.(1588-1590)CGT>AGT p.R530S RYR1_uc002oiu.2_Missense_Mutation_p.R530S NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 530 Cytoplasmic. R -> H (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) TTCTCTAATCCGTGGCAATCG 0.582 NA 65 163 1.33661e-31 1.87931e-31 0.00361 1 0 RYR1 6261 broad.mit.edu 37 19 38987127 38987127 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:38987127C>T uc002oit.2 + 41 6872 c.6742C>T c.(6742-6744)CGC>TGC p.R2248C RYR1_uc002oiu.2_Missense_Mutation_p.R2248C|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2248 Cytoplasmic.|6 X approximate repeats. 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) GCAGAACCAGCGCTCCATGTT 0.622 NA 63 191 0 0 0.00361 0 0 RYR1 6261 broad.mit.edu 37 19 39052027 39052027 + Nonsense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:39052027C>G uc002oit.2 + 90 12687 c.12557C>G c.(12556-12558)TCA>TGA p.S4186* RYR1_uc002oiu.2_Nonsense_Mutation_p.S4181*|RYR1_uc002oiv.1_Nonsense_Mutation_p.S1095* NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 4186 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) ATGGGCGCGTCACGCCGCATC 0.652 NA 18 198 0 0 0.006122 0 0 SARS2 54938 broad.mit.edu 37 19 39433327 39433327 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:39433327C>G uc010xuq.1 - 5 471 c.263G>C c.(262-264)AGA>ACA p.R88T FBXO17_uc002okg.1_Missense_Mutation_p.R253T|FBXO17_uc002okf.1_Missense_Mutation_p.R262T NM_017827 NP_060297 Q9NP81 SYSM_HUMAN seryl-tRNA synthetase 2 isoform b precursor Error:Variant_position_missing_in_Q9NP81_after_alignment seryl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|serine-tRNA ligase activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) ACTCACGTCTCTCCCGTACTG 0.602 NA 26 214 0 0 0.005443 0 0 SUPT5H 6829 broad.mit.edu 37 19 39948326 39948326 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:39948326G>C uc002olo.3 + 4 432 c.253G>C c.(253-255)GAG>CAG p.E85Q SUPT5H_uc010xvb.1_Missense_Mutation_p.E85Q|SUPT5H_uc002olp.3_Missense_Mutation_p.E85Q|SUPT5H_uc002olq.3_Missense_Mutation_p.E85Q|SUPT5H_uc002oln.3_Missense_Mutation_p.E85Q|SUPT5H_uc002olr.3_Missense_Mutation_p.E85Q NM_001111020 NP_001104490 O00267 SPT5H_HUMAN suppressor of Ty 5 homolog isoform a 85 Glu-rich. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity ovary(3)|pancreas(1) 4 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) TGTTGACGATGAGTATGAGGA 0.483 NA 28 136 0 0 0.010818 0 0 ZNF780A 284323 broad.mit.edu 37 19 40587775 40587775 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:40587775C>T uc002omy.2 - 5 408 c.183G>A c.(181-183)GAG>GAA p.E61E ZNF780A_uc002omw.3_Silent_p.E77E|ZNF780A_uc002omz.2_Silent_p.E61E|ZNF780A_uc010xvh.1_Silent_p.E62E NM_001010880 NP_001010880 O75290 Z780A_HUMAN zinc finger protein 780A isoform b 61 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) AGGGCTCTTTCTCTTGCTCTA 0.398 NA 23 96 0 0 0.00333 0 0 CIC 23152 broad.mit.edu 37 19 42798342 42798342 + Nonsense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:42798342G>T uc002otf.1 + 18 4253 c.4213G>T c.(4213-4215)GAG>TAG p.E1405* NM_015125 NP_055940 Q96RK0 CIC_HUMAN capicua homolog 1405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1) 11 Prostate(69;0.00682) TTCAGCACCCGAGGACCCCAC 0.627 NA T DUX4 soft tissue sarcoma 71 43 1.02016e-41 1.51478e-41 0.00361 1 0 ZNF233 353355 broad.mit.edu 37 19 44778564 44778564 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:44778564G>A uc002oyz.1 + 5 1878 c.1751G>A c.(1750-1752)AGA>AAA p.R584K ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.R399K NM_181756 NP_861421 A6NK53 ZN233_HUMAN zinc finger protein 233 584 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2) 2 Prostate(69;0.0435)|all_neural(266;0.226) GCCCATCAGAGAGTCCACACA 0.458 NA 20 79 0 0 0.007413 0 0 CEACAM20 125931 broad.mit.edu 37 19 45028255 45028255 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:45028255G>T uc010ejn.1 - 3 252 c.236C>A c.(235-237)GCC>GAC p.A79D CEACAM20_uc010ejo.1_Missense_Mutation_p.A79D|CEACAM20_uc010ejp.1_Missense_Mutation_p.A79D|CEACAM20_uc010ejq.1_Missense_Mutation_p.A79D NM_001102597 NP_001096067 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion 79 Ig-like C2-type 1.|Extracellular (Potential). integral to membrane large_intestine(2) 2 Prostate(69;0.0352) CTGCTCTATGGCAGTGCCTGG 0.517 NA 44 37 1.8453e-21 2.39522e-21 0.010771 1 0 GRIN2D 2906 broad.mit.edu 37 19 48925050 48925050 + Missense_Mutation SNP G G T rs150071822 TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:48925050G>T uc002pjc.3 + 10 2188 c.2100G>T c.(2098-2100)AGG>AGT p.R700S GRIN2D_uc010elx.2_5'UTR NM_000836 NP_000827 O15399 NMDE4_HUMAN N-methyl-D-aspartate receptor subunit 2D 700 Extracellular (Potential). cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding ovary(3)|breast(3) 6 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) AGTTCCAGAGGCCCCAGGAGC 0.582 NA 48 31 6.4308e-24 8.5744e-24 0.00361 1 0 NR1H2 7376 broad.mit.edu 37 19 50881788 50881788 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:50881788C>G uc010enw.2 + 6 758 c.482C>G c.(481-483)TCT>TGT p.S161C NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Missense_Mutation_p.S161C|NR1H2_uc002psa.3_Missense_Mutation_p.S64C NM_007121 NP_009052 P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 161 Nuclear receptor. negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding 0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) GGCGTCCTTTCTGAAGAACAG 0.652 NA 28 82 0 0 0.009535 0 0 SHANK1 50944 broad.mit.edu 37 19 51219610 51219610 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:51219610G>A uc002psx.1 - 2 400 c.381C>T c.(379-381)CGC>CGT p.R127R NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 127 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) AGTTGGCATCGCGGCCGGAGG 0.632 NA 24 80 0 0 0.00333 0 0 LILRA6 79168 broad.mit.edu 37 19 54744744 54744744 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:54744744C>A uc002qeu.1 - 5 1042 c.918G>T c.(916-918)TGG>TGT p.W306C LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Missense_Mutation_p.W306C|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Missense_Mutation_p.W306C|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.W306C|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.W306C|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Missense_Mutation_p.W306C|LILRA6_uc010yeq.1_Missense_Mutation_p.W306C|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.W167C NM_024318 NP_077294 Q6PI73 LIRA6_HUMAN leukocyte immunoglobulin-like receptor, 306 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane receptor activity skin(2) 2 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGGGGGCCGACCACTCGGAGG 0.687 NA 37 29 9.84934e-19 1.23748e-18 0.010771 1 0 LILRA3 11026 broad.mit.edu 37 19 54803705 54803705 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:54803705G>A uc002qfd.2 - 3 184 c.119C>T c.(118-120)ACC>ATC p.T40I LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Missense_Mutation_p.T40I NM_006865 NP_006856 Q8N6C8 LIRA3_HUMAN leukocyte immunoglobulin-like receptor, 40 Ig-like C2-type 1. defense response extracellular region|plasma membrane antigen binding|receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ACTCCCTTGGGTGATCACAGA 0.537 NA 93 43 0 0 0.00361 0 0 LILRA2 11027 broad.mit.edu 37 19 55086396 55086396 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:55086396C>A uc002qgg.3 + 4 640 c.551C>A c.(550-552)CCC>CAC p.P184H LILRA2_uc010ern.2_Missense_Mutation_p.P184H|LILRA2_uc002qgf.2_Missense_Mutation_p.P184H|LILRA2_uc010yfe.1_Missense_Mutation_p.P184H|LILRA2_uc010yff.1_Missense_Mutation_p.P172H|LILRA2_uc010ero.2_Missense_Mutation_p.P172H|LILRA2_uc010yfg.1_Missense_Mutation_p.P184H NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 184 Extracellular (Potential).|Ig-like C2-type 2. defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) TCCGTGGGCCCCGTGAGCCCG 0.577 NA 122 241 1.30845e-55 2.00044e-55 0.00361 1 0 KIR2DL3 3804 broad.mit.edu 37 19 55258819 55258819 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:55258819G>A uc002qgv.2 + 5 715 c.697G>A c.(697-699)GAA>AAA p.E233K KIR2DL3_uc002qgx.2_Missense_Mutation_p.E233K|KIR2DL3_uc002qgy.2_Missense_Mutation_p.E135K|KIR2DL3_uc010erw.1_Missense_Mutation_p.E233K|KIR2DL1_uc002qgz.1_Missense_Mutation_p.E143K|KIR2DL3_uc002qha.1_Intron NM_015868 NP_056952 P43628 KI2L3_HUMAN killer cell immunoglobulin-like receptor, two 233 Extracellular (Potential). immune response|regulation of immune response integral to plasma membrane antigen binding|protein binding|receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(193;0.0192) TTCACCCACTGAACCAAGCTC 0.488 NA 82 461 0 0 0.00361 0 0 NLRP7 199713 broad.mit.edu 37 19 55451427 55451427 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:55451427C>A uc002qih.3 - 4 836 c.760G>T c.(760-762)GGC>TGC p.G254C NLRP7_uc002qig.3_Missense_Mutation_p.G254C|NLRP7_uc002qii.3_Missense_Mutation_p.G254C|NLRP7_uc010esk.2_Missense_Mutation_p.G254C|NLRP7_uc010esl.2_Missense_Mutation_p.G282C NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 254 NACHT. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) TCATCAAGGCCATCGACCACG 0.562 NA 106 162 2.14364e-31 3.00969e-31 0.00361 1 0 ZNF524 147807 broad.mit.edu 37 19 56114130 56114130 + Missense_Mutation SNP A A G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:56114130A>G uc002qlk.1 + 2 735 c.652A>G c.(652-654)AAG>GAG p.K218E FIZ1_uc002qlj.3_5'Flank NM_153219 NP_694951 Q96C55 ZN524_HUMAN zinc finger protein 524 218 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) GCGCCATGCGAAGCGCAAGCA 0.706 NA 35 49 0 0 0.004289 0 0 NLRP8 126205 broad.mit.edu 37 19 56482046 56482046 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:56482046C>A uc002qmh.2 + 6 2589 c.2518C>A c.(2518-2520)CAG>AAG p.Q840K NLRP8_uc010etg.2_Missense_Mutation_p.Q840K NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 840 LRR 3. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GTCTGTGGCCCAGCTGGAGAG 0.463 NA 140 244 4.34486e-62 6.72664e-62 0.00361 1 0 NLRP5 126206 broad.mit.edu 37 19 56539809 56539809 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:56539809G>T uc002qmj.2 + 7 2210 c.2210G>T c.(2209-2211)CGG>CTG p.R737L NLRP5_uc002qmi.2_Missense_Mutation_p.R718L NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 737 LRR 2. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CGGAAAATTCGGGTGGATGTC 0.502 NA 71 373 2.40655e-23 3.19137e-23 0.00361 1 0 NLRP5 126206 broad.mit.edu 37 19 56572830 56572830 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:56572830G>A uc002qmj.2 + 15 3539 c.3539G>A c.(3538-3540)CGA>CAA p.R1180Q NLRP5_uc002qmi.2_Missense_Mutation_p.R1161Q NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 1180 mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CTCAAGCCCCGAGTCGTAATT 0.512 NA 44 102 0 0 0.013114 0 0 ZIM2 23619 broad.mit.edu 37 19 57286456 57286456 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:57286456T>A uc002qnr.2 - 11 1566 c.1184A>T c.(1183-1185)CAG>CTG p.Q395L uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.Q191L|ZIM2_uc010ygr.1_Missense_Mutation_p.Q191L|ZIM2_uc002qnq.2_Missense_Mutation_p.Q395L|ZIM2_uc010etp.2_Missense_Mutation_p.Q395L|ZIM2_uc010ygs.1_Missense_Mutation_p.Q395L NM_015363 NP_056178 Q9NZV7 ZIM2_HUMAN zinc finger, imprinted 2 395 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) ATTCGCACACTGGACGGAAGG 0.463 NA 55 96 0 0 0.00361 0 0 PEG3 5178 broad.mit.edu 37 19 57325561 57325561 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:57325561C>T uc002qnu.2 - 7 4600 c.4249G>A c.(4249-4251)GAG>AAG p.E1417K ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E1388K|PEG3_uc002qnv.2_Missense_Mutation_p.E1417K|PEG3_uc002qnw.2_Missense_Mutation_p.E1293K|PEG3_uc002qnx.2_Missense_Mutation_p.E1291K|PEG3_uc010etr.2_Missense_Mutation_p.E1417K NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 1417 Glu-rich.|3 X 7 AA repeat of P-E-V-E-A-A-E.|2-3. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CCGTTTGGCTCAGCAGCCTCC 0.597 NA 35 168 0 0 0.003271 0 0 PEG3 5178 broad.mit.edu 37 19 57326225 57326225 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:57326225C>T uc002qnu.2 - 7 3936 c.3585G>A c.(3583-3585)GGG>GGA p.G1195G ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.G1166G|PEG3_uc002qnv.2_Silent_p.G1195G|PEG3_uc002qnw.2_Silent_p.G1071G|PEG3_uc002qnx.2_Silent_p.G1069G|PEG3_uc010etr.2_Silent_p.G1195G NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 1195 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CATCATCACACCCCTTCATGG 0.468 NA 73 135 0 0 0.00361 0 0 PEG3 5178 broad.mit.edu 37 19 57328907 57328907 + Silent SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:57328907C>A uc002qnu.2 - 7 1254 c.903G>T c.(901-903)CGG>CGT p.R301R ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.R272R|PEG3_uc002qnv.2_Silent_p.R301R|PEG3_uc002qnw.2_Silent_p.R177R|PEG3_uc002qnx.2_Silent_p.R175R|PEG3_uc010etr.2_Silent_p.R301R NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 301 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) AAATCCCCCGCCGGTGGGTTG 0.453 NA 96 147 2.19198e-39 3.20139e-39 0.00361 1 0 DUXA 503835 broad.mit.edu 37 19 57672164 57672164 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:57672164C>A uc002qoa.1 - 2 72 c.27G>T c.(25-27)AAG>AAT p.K9N NM_001012729 NP_001012747 A6NLW8 DUXA_HUMAN double homeobox A 9 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) TTTTTACCATCTCTGTAGGAA 0.373 NA 52 30 1.54886e-18 1.93855e-18 0.00361 1 0 ZNF805 390980 broad.mit.edu 37 19 57765287 57765287 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:57765287G>T uc010ygt.1 + 4 1307 c.1100G>T c.(1099-1101)GGG>GTG p.G367V ZNF805_uc010ygu.1_Missense_Mutation_p.G234V NM_001023563 NP_001018857 Q5CZA5 ZN805_HUMAN zinc finger protein 805 isoform 1 367 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACTCATACCGGGGAGAAGCCC 0.517 NA 6 60 0.00116845 0.00119778 0.001168 1 0 TSSC1 7260 broad.mit.edu 37 2 3193150 3193150 + Silent SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:3193150C>A uc002qxj.2 - 9 1312 c.1119G>T c.(1117-1119)GTG>GTT p.V373V TSSC1_uc002qxi.2_RNA NM_003310 NP_003301 Q53HC9 TSSC1_HUMAN tumor suppressing subtransferable candidate 1 373 WD 5. protein binding 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.212) OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464) CCCTGTTGATCACGAGCCTCC 0.602 Colon(140;1261 1762 4183 34270 49743) NA 19 14 5.35267e-07 5.82199e-07 0.007413 1 0 CPSF3 51692 broad.mit.edu 37 2 9572814 9572814 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:9572814G>A uc002qzo.1 + 5 551 c.516G>A c.(514-516)GTG>GTA p.V172V CPSF3_uc010ewx.1_Silent_p.V172V|CPSF3_uc002qzp.1_Silent_p.V135V NM_016207 NP_057291 Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 172 histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding breast(2) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) TCGCAGGCGTGAAGGTACCCT 0.458 Colon(194;1259 2048 3845 5218 19985) NA 4 77 0 0 0.009096 0 0 APOB 338 broad.mit.edu 37 2 21230494 21230494 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:21230494G>T uc002red.2 - 26 9374 c.9246C>A c.(9244-9246)GCC>GCA p.A3082A NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3082 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTGCTTGCTGGGCACTGGGAC 0.413 NA 145 66 5.77923e-69 9.06184e-69 0.00361 1 0 GCKR 2646 broad.mit.edu 37 2 27726468 27726468 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:27726468G>T uc002rky.2 + 9 798 c.732G>T c.(730-732)GTG>GTT p.V244V GCKR_uc010ezd.2_Silent_p.V244V|GCKR_uc010ylu.1_Silent_p.V54V NM_001486 NP_001477 Q14397 GCKR_HUMAN glucokinase regulatory protein 244 SIS 1. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding ovary(2) 2 Acute lymphoblastic leukemia(172;0.155) AAGCTTTTGTGCTCAATCCTG 0.502 NA 34 20 1.26612e-14 1.51316e-14 0.003271 1 0 FOSL2 2355 broad.mit.edu 37 2 28635205 28635205 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:28635205G>C uc002rma.2 + 4 1680 c.871G>C c.(871-873)GAG>CAG p.E291Q FOSL2_uc010ymi.1_Missense_Mutation_p.E252Q NM_005253 NP_005244 P15408 FOSL2_HUMAN FOS-like antigen 2 291 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(172;0.155) CCTGGAGCAGGAGTCACCCGC 0.612 NA 45 76 0 0 0.009718 0 0 CAPN13 92291 broad.mit.edu 37 2 30998891 30998891 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:30998891C>T uc002rnn.2 - 4 468 c.292G>A c.(292-294)GCA>ACA p.A98T CAPN13_uc002rnp.1_Missense_Mutation_p.A98T NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN calpain 13 98 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity large_intestine(1)|ovary(1) 2 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) GATCCCAGTGCTGCCAGGAAC 0.517 NA 9 90 0 0 0.006214 0 0 GALNT14 79623 broad.mit.edu 37 2 31215713 31215713 + Missense_Mutation SNP C C T rs113322802 TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:31215713C>T uc002rnr.2 - 2 909 c.290G>A c.(289-291)CGC>CAC p.R97H GALNT14_uc002rnq.2_Missense_Mutation_p.R77H|GALNT14_uc002rns.2_Intron|GALNT14_uc010ymr.1_Missense_Mutation_p.R62H|GALNT14_uc010ezo.1_Missense_Mutation_p.R97H|GALNT14_uc010ezp.1_Missense_Mutation_p.R68H NM_024572 NP_078848 Q96FL9 GLT14_HUMAN N-acetylgalactosaminyltransferase 14 97 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(2)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) CCTCAGATGGCGAGTGTCCGG 0.567 NA 13 224 0 0 0.003163 0 0 BIRC6 57448 broad.mit.edu 37 2 32694557 32694557 + Missense_Mutation SNP A A G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:32694557A>G uc010ezu.2 + 30 6356 c.6222A>G c.(6220-6222)ATA>ATG p.I2074M NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 2074 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) CCCCAAAGATACGGTTACATA 0.443 Pancreas(94;175 1509 16028 18060 45422) NA 76 209 0 0 0.00361 0 0 LTBP1 4052 broad.mit.edu 37 2 33246069 33246069 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:33246069C>A uc002ros.2 + 3 659 c.659C>A c.(658-660)ACA>AAA p.T220K NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 220 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GCCTGTGAAACAATAGCTGCC 0.567 NA 222 167 1.77857e-91 2.81129e-91 0.00361 1 0 SULT6B1 391365 broad.mit.edu 37 2 37414550 37414550 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:37414550T>A uc002rpu.2 - 2 167 c.146A>T c.(145-147)TAT>TTT p.Y49F SULT6B1_uc010yni.1_RNA NM_001032377 NP_001027549 Q6IMI4 ST6B1_HUMAN sulfotransferase family, cytosolic, 6B, member 87 cytoplasm sulfotransferase activity ovary(1)|breast(1)|central_nervous_system(1) 3 all_hematologic(82;0.248) TGGATATTTATACTTTTTTTT 0.323 NA 26 20 0 0 0.00361 0 0 NRXN1 9378 broad.mit.edu 37 2 50724658 50724658 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:50724658C>A uc010fbq.2 - 14 4289 c.2812G>T c.(2812-2814)GGC>TGC p.G938C NRXN1_uc002rxb.3_Missense_Mutation_p.G570C|NRXN1_uc002rxe.3_Missense_Mutation_p.G898C|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:Variant_position_missing_in_P58400_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TTCCTGAAGCCAAATCTGGCA 0.418 NA 62 38 3.30226e-22 4.33228e-22 0.00361 1 0 ERLEC1 27248 broad.mit.edu 37 2 54041746 54041746 + Silent SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:54041746T>A uc002rxl.2 + 12 1573 c.1293T>A c.(1291-1293)ACT>ACA p.T431T ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Intron|ERLEC1_uc002rxn.2_Silent_p.T377T NM_015701 NP_056516 Q96DZ1 ERLEC_HUMAN erlectin isoform 1 431 ER-associated protein catabolic process endoplasmic reticulum lumen glycoprotein binding|protein binding ovary(2) 2 GACAGGTGACTGTAAAACTAA 0.318 NA 28 23 0 0 0.009535 0 0 AFTPH 54812 broad.mit.edu 37 2 64778637 64778637 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:64778637C>G uc002sdc.2 + 1 61 c.29C>G c.(28-30)TCT>TGT p.S10C AFTPH_uc002scz.2_Missense_Mutation_p.S10C|AFTPH_uc002sda.2_Missense_Mutation_p.S10C|AFTPH_uc002sdb.2_Missense_Mutation_p.S10C NM_203437 NP_982261 Q6ULP2 AFTIN_HUMAN aftiphilin protein isoform a 10 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding ovary(2) 2 CGAATGTACTCTTCATCCCCA 0.393 NA 16 182 0 0 0.004007 0 0 CCDC142 84865 broad.mit.edu 37 2 74709037 74709037 + Missense_Mutation SNP A A C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:74709037A>C uc002slr.2 - 1 1321 c.928T>G c.(928-930)TGG>GGG p.W310G TTC31_uc002sls.2_5'Flank|TTC31_uc010yrv.1_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Missense_Mutation_p.W310G|CCDC142_uc002slp.2_Missense_Mutation_p.W310G NM_032779 NP_116168 Q17RM4 CC142_HUMAN coiled-coil domain containing 142 310 central_nervous_system(1) 1 CAGGCTGCCCACAGCAGGGTC 0.662 NA 16 129 0 0 0.00499 0 0 DNAH6 1768 broad.mit.edu 37 2 84780069 84780069 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:84780069G>A uc010fgb.2 + 10 1650 c.1513G>A c.(1513-1515)GAA>AAA p.E505K DNAH6_uc002soo.2_Missense_Mutation_p.E84K|DNAH6_uc002sop.2_Missense_Mutation_p.E84K NM_001370 NP_001361 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy polypeptide 6 505 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity central_nervous_system(1) 1 AAAGCAAGAAGAAGATGAATC 0.383 NA 6 134 0 0 0.001984 0 0 RETSAT 54884 broad.mit.edu 37 2 85571210 85571210 + Missense_Mutation SNP C C A rs147993013 TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:85571210C>A uc002spd.2 - 9 1636 c.1445G>T c.(1444-1446)CGG>CTG p.R482L RETSAT_uc010fge.2_Intron|RETSAT_uc010ysm.1_Missense_Mutation_p.R421L|RETSAT_uc010fgf.2_Missense_Mutation_p.R273L NM_017750 NP_060220 Q6NUM9 RETST_HUMAN all-trans-13,14-dihydroretinol saturase 482 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity ovary(2) 2 Vitamin A(DB00162) GTCACTGCCCCGCTTTCCCTT 0.537 NA 89 46 8.6838e-40 1.27588e-39 0.00361 1 0 C2orf51 200523 broad.mit.edu 37 2 88828748 88828748 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:88828748G>T uc002stb.1 + 4 441 c.299G>T c.(298-300)CGC>CTC p.R100L NM_152670 NP_689883 Q96LM6 TSC21_HUMAN chromosome 2 open reading frame 51 100 nucleus skin(1) 1 GAGGACGAGCGCAAGTTCACC 0.587 NA 25 195 5.45024e-15 6.56978e-15 0.00333 1 0 C2orf51 200523 broad.mit.edu 37 2 88828927 88828927 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:88828927C>T uc002stb.1 + 4 620 c.478C>T c.(478-480)CAT>TAT p.H160Y NM_152670 NP_689883 Q96LM6 TSC21_HUMAN chromosome 2 open reading frame 51 160 nucleus skin(1) 1 TCCCTGTCTTCATTGCCATAT 0.532 NA 32 102 0 0 0.003271 0 0 PROM2 150696 broad.mit.edu 37 2 95952274 95952274 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:95952274C>T uc002suh.1 + 17 2128 c.1995C>T c.(1993-1995)CTC>CTT p.L665L PROM2_uc002sui.2_Silent_p.L665L|PROM2_uc002suj.2_Silent_p.L319L|PROM2_uc002suk.2_Silent_p.L665L|PROM2_uc002sul.2_Silent_p.L191L|PROM2_uc002sum.2_RNA NM_144707 NP_653308 Q8N271 PROM2_HUMAN prominin 2 precursor 665 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane ovary(1) 1 CCCAAGGACTCAGAAACCTTC 0.627 NA 29 106 0 0 0.003271 0 0 VWA3B 200403 broad.mit.edu 37 2 98709643 98709643 + Nonsense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:98709643G>T uc002syo.2 + 2 352 c.88G>T c.(88-90)GAG>TAG p.E30* VWA3B_uc010yvh.1_5'UTR|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Nonsense_Mutation_p.E30*|VWA3B_uc002syn.1_RNA NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 30 ovary(3)|large_intestine(2)|skin(1) 6 AGACTTGGCTGAGCAGAGTCT 0.453 NA 20 115 4.63292e-17 5.76176e-17 0.008871 1 0 IL1F8 27177 broad.mit.edu 37 2 113788630 113788630 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:113788630T>A uc002tiq.1 - 3 220 c.116A>T c.(115-117)AAG>ATG p.K39M IL1F8_uc002tir.1_Missense_Mutation_p.K39M NM_014438 NP_055253 Q9NZH7 IL36B_HUMAN interleukin 1 family, member 8 isoform 1 39 immune response extracellular space cytokine activity|interleukin-1 receptor binding ovary(1) 1 CTCACCAGGCTTAATGCTGCG 0.507 NA 41 37 0 0 0.013114 0 0 CCDC93 54520 broad.mit.edu 37 2 118706927 118706927 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:118706927G>A uc002tlj.2 - 14 1239 c.1113C>T c.(1111-1113)CTC>CTT p.L371L CCDC93_uc010fld.1_Silent_p.L371L NM_019044 NP_061917 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 371 Potential. large_intestine(1)|ovary(1) 2 CTATCTTCTCGAGGGCTGCTT 0.433 NA 7 145 0 0 0.00308 0 0 GLI2 2736 broad.mit.edu 37 2 121747580 121747580 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:121747580G>A uc010flp.2 + 13 4120 c.4090G>A c.(4090-4092)GCA>ACA p.A1364T GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.A1036T|GLI2_uc002tmu.3_Missense_Mutation_p.A1019T NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 1364 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) GGTGGCTACAGCAGGCTTTGG 0.697 NA 7 31 0 0 0.00308 0 0 MKI67IP 84365 broad.mit.edu 37 2 122493196 122493196 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:122493196C>A uc002tnk.2 - 2 313 c.236G>T c.(235-237)AGT>ATT p.S79I MKI67IP_uc010fls.2_Missense_Mutation_p.S79I NM_032390 NP_115766 Q9BYG3 MK67I_HUMAN MKI67 interacting nucleolar phosphoprotein 79 RRM. protein complex assembly|rRNA metabolic process|rRNA transcription condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding 0 TACCCTTTTACTTCTGGACAG 0.393 NA 7 73 7.48243e-07 8.12047e-07 0.006214 1 0 TUBA3E 112714 broad.mit.edu 37 2 130951518 130951518 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:130951518G>T uc002tqv.2 - 4 998 c.897C>A c.(895-897)GCC>GCA p.A299A NM_207312 NP_997195 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 299 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 Colorectal(110;0.1) CCATCTGATTGGCTGGCTCGA 0.597 NA 151 111 1.95521e-66 3.05598e-66 0.00361 1 0 YSK4 80122 broad.mit.edu 37 2 135745613 135745613 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:135745613G>A uc002tue.1 - 7 860 c.829C>T c.(829-831)CTC>TTC p.L277F YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.L164F|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.L5F|YSK4_uc002tui.3_Missense_Mutation_p.L294F NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 277 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) GAAGACCTGAGAGTCGGATCC 0.478 NA 43 121 0 0 0.007835 0 0 LRP1B 53353 broad.mit.edu 37 2 141135754 141135754 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:141135754C>G uc002tvj.1 - 68 11605 c.10633G>C c.(10633-10635)GAT>CAT p.D3545H NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3545 Extracellular (Potential).|LDL-receptor class A 26. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCTACCTCATCAGAGCCATCT 0.413 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 3 89 0 0 0.004672 0 0 ARHGAP15 55843 broad.mit.edu 37 2 144381793 144381793 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:144381793G>T uc002tvm.3 + 12 1246 c.1095G>T c.(1093-1095)CCG>CCT p.P365P ARHGAP15_uc002tvn.2_Silent_p.P131P NM_018460 NP_060930 Q53QZ3 RHG15_HUMAN ARHGAP15 365 Rho-GAP. regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.151) TGCCTGAGCCGCTCTTCCCTT 0.488 NA 54 31 9.57592e-29 1.32736e-28 0.00361 1 0 MBD5 55777 broad.mit.edu 37 2 149243347 149243347 + Missense_Mutation SNP A A G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:149243347A>G uc002twm.3 + 11 3870 c.2882A>G c.(2881-2883)CAT>CGT p.H961R MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.H961R|MBD5_uc002two.2_Missense_Mutation_p.H219R|MBD5_uc002twp.2_Missense_Mutation_p.H11R NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 961 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) TTGAGTAACCATCAACTGACT 0.383 NA 6 51 0 0 0.001168 0 0 NEB 4703 broad.mit.edu 37 2 152543993 152543993 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:152543993G>A uc010fnx.2 - 27 2768 c.2577C>T c.(2575-2577)CTC>CTT p.L859L NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 859 Nebulin 20. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CATTAATGCTGAGGGCTCCAA 0.438 NA 93 256 0 0 0.00361 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711521 155711521 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:155711521C>G uc002tyv.1 + 3 1397 c.1202C>G c.(1201-1203)TCT>TGT p.S401C KCNJ3_uc010zce.1_3'UTR NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 401 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) AAACTACCATCTAAGCTGCAG 0.398 NA 9 226 0 0 0.004482 0 0 PLA2R1 22925 broad.mit.edu 37 2 160813066 160813066 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:160813066C>T uc002ube.1 - 21 3184 c.2977G>A c.(2977-2979)GAA>AAA p.E993K PLA2R1_uc010zcp.1_Missense_Mutation_p.E993K|PLA2R1_uc002ubf.2_Missense_Mutation_p.E993K NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor 993 Extracellular (Potential).|C-type lectin 6. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 CCCCCTTCTTCAGCACAGAAA 0.433 NA 6 112 0 0 0.001168 0 0 PLA2R1 22925 broad.mit.edu 37 2 160813073 160813073 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:160813073G>A uc002ube.1 - 21 3177 c.2970C>T c.(2968-2970)TTC>TTT p.F990F PLA2R1_uc010zcp.1_Silent_p.F990F|PLA2R1_uc002ubf.2_Silent_p.F990F NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor 990 Extracellular (Potential).|C-type lectin 6. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 CTTCAGCACAGAAATGTTGAG 0.438 NA 5 117 0 0 0.001168 0 0 GCG 2641 broad.mit.edu 37 2 163004015 163004015 + Silent SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:163004015T>A uc002ucc.2 - 3 201 c.102A>T c.(100-102)TCA>TCT p.S34S NM_002054 NP_002045 P01275 GLUC_HUMAN glucagon preproprotein 34 cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity 0 Exenatide(DB01276)|Phentolamine(DB00692) CCTGGGAAGCTGAGAATGATC 0.448 NA 112 283 0 0 0.00361 0 0 SCN9A 6335 broad.mit.edu 37 2 167108323 167108323 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:167108323C>T uc010fpl.2 - 18 3732 c.3391G>A c.(3391-3393)GAG>AAG p.E1131K uc002udp.2_RNA NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1142 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) GGTTCAGCCTCTGCTTCTTCT 0.473 NA 4 85 0 0 0.009096 0 0 CHN1 1123 broad.mit.edu 37 2 175779854 175779854 + Missense_Mutation SNP A A C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:175779854A>C uc002uji.2 - 5 722 c.192T>G c.(190-192)ATT>ATG p.I64M CHN1_uc010zeq.1_Missense_Mutation_p.I64M|CHN1_uc002ujj.2_Translation_Start_Site NM_001822 NP_001813 P15882 CHIN_HUMAN chimerin (chimaerin) 1 isoform a 64 SH2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.226) CCTCAGCCACAATCAAGAGCT 0.478 NA T TAF15 extraskeletal myxoid chondrosarcoma 13 36 0 0 0.001368 0 0 DFNB59 494513 broad.mit.edu 37 2 179325880 179325880 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:179325880G>A uc002umi.3 + 7 1294 c.938G>A c.(937-939)GGA>GAA p.G313E DFNB59_uc002umj.3_Missense_Mutation_p.G313E NM_001042702 NP_001036167 Q0ZLH3 PJVK_HUMAN deafness, autosomal recessive 59 313 sensory perception of sound 0 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) ATACTCTGTGGAATGGGGAAC 0.413 NA 67 187 0 0 0.00361 0 0 TTN 7273 broad.mit.edu 37 2 179648873 179648873 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:179648873T>A uc010zfg.1 - 16 2923 c.2699A>T c.(2698-2700)AAG>ATG p.K900M TTN_uc010zfh.1_Missense_Mutation_p.K854M|TTN_uc010zfi.1_Missense_Mutation_p.K854M|TTN_uc010zfj.1_Missense_Mutation_p.K854M|TTN_uc002unb.2_Missense_Mutation_p.K900M NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 900 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) CCCTACTTCCTTTTTCACCTC 0.547 NA 50 158 0 0 0.00361 0 0 CCDC141 285025 broad.mit.edu 37 2 179736888 179736888 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:179736888C>A uc002unf.1 - 3 383 c.326G>T c.(325-327)TGG>TTG p.W109L NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 109 Potential. protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) GAATGCCGCCCACTGCTGTTT 0.383 NA 39 42 1.04594e-18 1.31077e-18 0.00623 1 0 ZNF804A 91752 broad.mit.edu 37 2 185802298 185802298 + Nonsense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:185802298G>A uc002uph.2 + 4 2769 c.2175G>A c.(2173-2175)TGG>TGA p.W725* NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 725 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 ACTGTTGTTGGAAAACCAAAA 0.323 NA 24 85 0 0 0.002299 0 0 COL3A1 1281 broad.mit.edu 37 2 189871112 189871112 + Silent SNP T T G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:189871112T>G uc002uqj.1 + 43 3252 c.3135T>G c.(3133-3135)GCT>GCG p.A1045A NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 1045 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CCCCTGGCGCTCCTGGTCATC 0.478 NA 25 92 0 0 0.003954 0 0 COL5A2 1290 broad.mit.edu 37 2 189916209 189916209 + Splice_Site SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:189916209T>A uc002uqk.2 - 42 3045 c.2770_splice c.e42-1 p.G924_splice COL5A2_uc010frx.2_Splice_Site_p.G500_splice NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TGGAGCTCCCTAGTATAACAA 0.562 NA 15 65 0 0 0.004007 0 0 HIBCH 26275 broad.mit.edu 37 2 191116925 191116925 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:191116925C>G uc002uru.2 - 8 709 c.626G>C c.(625-627)AGA>ACA p.R209T HIBCH_uc002urv.2_Missense_Mutation_p.R209T NM_014362 NP_055177 Q6NVY1 HIBCH_HUMAN 3-hydroxyisobutyryl-Coenzyme A hydrolase isoform 209 branched chain family amino acid catabolic process mitochondrial matrix 3-hydroxyisobutyryl-CoA hydrolase activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814) AATTCCTGCTCTGTACACATC 0.388 NA 15 111 0 0 0.00499 0 0 PGAP1 80055 broad.mit.edu 37 2 197706049 197706049 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:197706049C>T uc002utw.2 - 27 2792 c.2678G>A c.(2677-2679)GGT>GAT p.G893D PGAP1_uc002utx.2_Missense_Mutation_p.G719D|PGAP1_uc010fsi.2_Missense_Mutation_p.G132D NM_024989 NP_079265 Q75T13 PGAP1_HUMAN GPI deacylase 893 Cytoplasmic (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity ovary(3)|central_nervous_system(1) 4 AGCAATCACACCAACAGCCAG 0.368 NA 19 74 0 0 0.010504 0 0 AOX1 316 broad.mit.edu 37 2 201523948 201523948 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:201523948G>A uc002uvx.2 + 28 3333 c.3232G>A c.(3232-3234)GAA>AAA p.E1078K AOX1_uc010zhf.1_Missense_Mutation_p.E634K|AOX1_uc010fsu.2_Missense_Mutation_p.E444K NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 1078 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) AACAAGCACAGAAACTGTCCC 0.438 NA 8 204 0 0 0.00308 0 0 NIF3L1 60491 broad.mit.edu 37 2 201761901 201761901 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:201761901C>G uc002uwm.2 + 5 920 c.829C>G c.(829-831)CAT>GAT p.H277D NIF3L1_uc002uwl.2_Missense_Mutation_p.H250D|NIF3L1_uc002uwn.2_Missense_Mutation_p.H250D|NIF3L1_uc002uwo.2_Missense_Mutation_p.H277D|NIF3L1_uc002uwp.2_Missense_Mutation_p.H277D|NIF3L1_uc002uwq.2_Intron NM_001136039 NP_001129511 Q9GZT8 NIF3L_HUMAN NIF3 NGG1 interacting factor 3-like 1 isoform 1 277 positive regulation of transcription, DNA-dependent transcription factor binding skin(1) 1 AAAACTATCTCATATTCGCTT 0.423 NA 34 139 0 0 0.003271 0 0 NRP2 8828 broad.mit.edu 37 2 206610568 206610569 + Missense_Mutation DNP GG GG AT TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:206610568_206610569GG>AT uc002vaw.2 + 10 2531_2532 c.1740_1741GG>AT c.(1738-1743)CCGGCG>CCATCG p.A581S NRP2_uc002vau.2_Missense_Mutation_p.A581S|NRP2_uc002vav.2_Missense_Mutation_p.A581S|NRP2_uc002vax.2_Missense_Mutation_p.A581S|NRP2_uc002vay.2_Missense_Mutation_p.A581S NM_201266 NP_957718 O60462 NRP2_HUMAN neuropilin 2 isoform 1 precursor 581 Extracellular (Potential).|F5/8 type C 2. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 GGTGGTCGCCGGCGGGGATTGG 0.579 NA 54 50 0 0 0.004672 0 0 INO80D 54891 broad.mit.edu 37 2 206869607 206869607 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:206869607C>A uc002vaz.3 - 11 2974 c.2569G>T c.(2569-2571)GCA>TCA p.A857S NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 857 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 AAGGTAGCTGCCATATTATCA 0.527 NA 63 165 4.45325e-31 6.22566e-31 0.00361 1 0 ADAM23 8745 broad.mit.edu 37 2 207452876 207452876 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:207452876C>A uc002vbq.2 + 20 2073 c.1850C>A c.(1849-1851)ACA>AAA p.T617K ADAM23_uc010ziv.1_RNA NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 617 Extracellular (Potential). cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) ATCTGGGGAACAAGTAGGTCG 0.522 Melanoma(194;1127 2130 19620 24042 27855) NA 43 85 7.63091e-17 9.44229e-17 0.007835 1 0 FASTKD2 22868 broad.mit.edu 37 2 207652733 207652733 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:207652733G>C uc002vbu.2 + 9 2077 c.1667G>C c.(1666-1668)AGG>ACG p.R556T FASTKD2_uc002vbv.2_Missense_Mutation_p.R556T|FASTKD2_uc002vbx.2_Missense_Mutation_p.R556T|FASTKD2_uc002vbw.1_Missense_Mutation_p.R556T NM_001136193 NP_001129665 Q9NYY8 FAKD2_HUMAN FAST kinase domains 2 556 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|skin(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138) GTCTATCTGAGGGACATAGCC 0.453 NA 21 70 0 0 0.010504 0 0 SPAG16 79582 broad.mit.edu 37 2 214794788 214794788 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:214794788G>T uc002veq.2 + 12 1411 c.1319G>T c.(1318-1320)TGG>TTG p.W440L SPAG16_uc010fuz.1_Missense_Mutation_p.W291L|SPAG16_uc002ver.2_Missense_Mutation_p.W386L|SPAG16_uc010zjk.1_Missense_Mutation_p.W346L NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 isoform 1 440 WD 3. cilium assembly cilium axoneme|flagellar axoneme ovary(1)|skin(1) 2 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) CGCGCAGTGTGGTCCTGCACA 0.428 NA 76 59 4.09166e-32 5.77785e-32 0.00361 1 0 TMEM169 92691 broad.mit.edu 37 2 216965125 216965125 + Missense_Mutation SNP T T C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:216965125T>C uc010zjr.1 + 4 1080 c.754T>C c.(754-756)TTC>CTC p.F252L TMEM169_uc010zjs.1_Missense_Mutation_p.F252L|TMEM169_uc002vfw.2_Missense_Mutation_p.F252L|TMEM169_uc002vfv.3_Missense_Mutation_p.F252L NM_001142310 NP_001135782 Q96HH4 TM169_HUMAN transmembrane protein 169 252 Extracellular (Potential). integral to membrane ovary(1) 1 Renal(323;0.0651) Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGAGAAAGGCTTCTGTGGCTG 0.572 NA 79 233 0 0 0.00361 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217279574 217279574 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:217279574C>T uc002vgc.3 + 3 477 c.147C>T c.(145-147)GCC>GCT p.A49A SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Silent_p.A49A|SMARCAL1_uc010fvg.2_Silent_p.A49A NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN SWI/SNF-related matrix-associated 49 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity ovary(3)|breast(3)|skin(1) 7 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) CATTCCAGGCCAAGCAAGGCC 0.512 NA Schimke_Immuno-Osseous_Dysplasia 168 165 0 0 0.00361 0 0 TNS1 7145 broad.mit.edu 37 2 218686627 218686627 + Silent SNP T T G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:218686627T>G uc002vgt.2 - 23 3494 c.3096A>C c.(3094-3096)ACA>ACC p.T1032T TNS1_uc002vgr.2_Silent_p.T1019T|TNS1_uc002vgs.2_Silent_p.T1011T|TNS1_uc010zjv.1_Silent_p.T1011T NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 1032 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) CAGCCACCGCTGTCCGTGCCA 0.637 NA 8 5 0 0 0.004482 0 0 SPEG 10290 broad.mit.edu 37 2 220355508 220355508 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:220355508G>T uc010fwg.2 + 38 9215 c.9215G>T c.(9214-9216)GGC>GTC p.G3072V NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 3072 Protein kinase 2. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CTGCTACAAGGCCTGGACTAC 0.597 NA 82 95 6.71967e-41 9.93254e-41 0.00361 1 0 OBSL1 23363 broad.mit.edu 37 2 220423027 220423027 + Silent SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:220423027C>A uc010fwk.2 - 10 3438 c.3381G>T c.(3379-3381)CTG>CTT p.L1127L OBSL1_uc002vmh.1_Silent_p.L118L|OBSL1_uc010zli.1_Intron|OBSL1_uc010fwl.1_Silent_p.L602L NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 1127 Ig-like 9. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CACCCAGCTGCAGGGCATCTG 0.697 NA 14 30 1.3612e-06 1.46752e-06 0.003163 1 0 COL4A4 1286 broad.mit.edu 37 2 228004950 228004950 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:228004950C>A uc010zlt.1 - 4 773 c.119G>T c.(118-120)GGA>GTA p.G40V NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 40 7S domain. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GTATTTCTTTCCACTCTGGAA 0.413 NA 26 107 4.7796e-09 5.29866e-09 0.004656 1 0 COL4A3 1285 broad.mit.edu 37 2 228137787 228137787 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:228137787G>C uc002vom.1 + 26 2043 c.1881G>C c.(1879-1881)CAG>CAC p.Q627H COL4A3_uc002von.1_Missense_Mutation_p.Q627H|COL4A3_uc002voo.1_Missense_Mutation_p.Q627H|COL4A3_uc002vop.1_Missense_Mutation_p.Q627H|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 627 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) CTGGTCTCCAGGGCACGCAAG 0.617 NA 33 129 0 0 0.003755 0 0 TM4SF20 79853 broad.mit.edu 37 2 228228599 228228599 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:228228599G>A uc002vpb.2 - 4 569 c.531C>T c.(529-531)TTC>TTT p.F177F NM_024795 NP_079071 Q53R12 T4S20_HUMAN transmembrane 4 L six family member 20 177 Extracellular (Potential). integral to membrane|plasma membrane 0 Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115) CTTCAGAATCGAAGTGGAAAC 0.438 NA 7 174 0 0 0.00308 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881688 228881688 + Silent SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:228881688C>G uc002vpq.2 - 7 3929 c.3882G>C c.(3880-3882)CGG>CGC p.R1294R SPHKAP_uc002vpp.2_Silent_p.R1294R|SPHKAP_uc010zlx.1_Silent_p.R1294R NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1294 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TCCCACCTCTCCGATACAAGC 0.498 NA 4 165 0 0 0.000602 0 0 SP110 3431 broad.mit.edu 37 2 231067329 231067329 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:231067329C>T uc002vqh.3 - 9 1254 c.1014G>A c.(1012-1014)GCG>GCA p.A338A SP110_uc002vqg.3_Silent_p.A338A|SP110_uc002vqi.3_Silent_p.A338A|SP110_uc010fxk.2_Silent_p.A336A|SP110_uc010fxj.2_Intron NM_004509 NP_004500 Q9HB58 SP110_HUMAN SP110 nuclear body protein isoform a 338 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding ovary(2)|breast(2) 4 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) ATTCAGTTCTCGCCTTTTGGG 0.493 NA 34 112 0 0 0.012213 0 0 USP40 55230 broad.mit.edu 37 2 234421213 234421213 + Splice_Site SNP A A G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:234421213A>G uc010zmr.1 - 18 2470 c.2470_splice c.e18+1 p.V824_splice USP40_uc002vun.2_5'Flank|USP40_uc002vuo.1_5'Flank|USP40_uc010zmt.1_Splice_Site_p.V468_splice NM_018218 NP_060688 Q9NVE5 UBP40_HUMAN ubiquitin thioesterase 40 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1)|breast(1) 3 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) AAAAAGATTTACCTGGACAAA 0.318 NA 13 23 0 0 0.003163 0 0 IQCA1 79781 broad.mit.edu 37 2 237374189 237374189 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:237374189C>A uc002vvz.1 - 6 1067 c.885G>T c.(883-885)GAG>GAT p.E295D IQCA1_uc002vwb.2_Missense_Mutation_p.E302D|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Missense_Mutation_p.E295D NM_024726 NP_079002 Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 295 ATP binding ovary(1) 1 CTTGAAGGTTCTCCTTGATAT 0.458 NA 48 58 1.83081e-24 2.45443e-24 0.00361 1 0 COL6A3 1293 broad.mit.edu 37 2 238266025 238266025 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:238266025C>T uc002vwl.2 - 23 6832 c.6547G>A c.(6547-6549)GGG>AGG p.G2183R COL6A3_uc002vwo.2_Missense_Mutation_p.G1977R|COL6A3_uc010znj.1_Missense_Mutation_p.G1576R|COL6A3_uc002vwp.1_5'Flank NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 2183 Triple-helical region.|Collagen-like 3. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCATCTCTCCCTGGGACACCC 0.498 NA 253 235 0 0 0.00361 0 0 PDYN 5173 broad.mit.edu 37 20 1961233 1961233 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr20:1961233G>T uc010gaj.2 - 3 743 c.501C>A c.(499-501)GAC>GAA p.D167E uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.D167E|PDYN_uc010zpt.1_Missense_Mutation_p.D12E NM_024411 NP_077722 P01213 PDYN_HUMAN beta-neoendorphin-dynorphin preproprotein 167 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity upper_aerodigestive_tract(1)|ovary(1) 2 GCTCCTTGGGGTCCTCCTCAG 0.597 NA 40 105 4.57556e-38 6.67269e-38 0.013114 1 0 PRND 23627 broad.mit.edu 37 20 4705236 4705236 + Silent SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr20:4705236C>G uc002wkz.2 + 2 110 c.39C>G c.(37-39)GTC>GTG p.V13V NM_012409 NP_036541 Q9UKY0 PRND_HUMAN prion-like protein doppel preproprotein 13 protein homooligomerization anchored to membrane|plasma membrane 0 TGGCCACTGTCTGCATGCTGC 0.632 NA 9 132 0 0 0.010729 0 0 PRND 23627 broad.mit.edu 37 20 4705248 4705248 + Silent SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr20:4705248C>G uc002wkz.2 + 2 122 c.51C>G c.(49-51)CTC>CTG p.L17L NM_012409 NP_036541 Q9UKY0 PRND_HUMAN prion-like protein doppel preproprotein 17 protein homooligomerization anchored to membrane|plasma membrane 0 GCATGCTGCTCTTCAGCCACC 0.632 NA 8 128 0 0 0.008291 0 0 MKKS 8195 broad.mit.edu 37 20 10386212 10386212 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr20:10386212C>A uc002wnt.1 - 6 2283 c.1396G>T c.(1396-1398)GGT>TGT p.G466C MKKS_uc002wnu.1_Missense_Mutation_p.G466C|MKKS_uc010zrd.1_RNA NM_018848 NP_061336 Q9NPJ1 MKKS_HUMAN McKusick-Kaufman syndrome protein 466 brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development cytosol|microtubule organizing center|motile cilium ATP binding|unfolded protein binding 0 AGAATTTCACCTCCATCATGT 0.423 Melanoma(79;1979 2212 6640) NA Bardet-Biedl_syndrome 28 52 4.7796e-09 5.29866e-09 0.004656 1 0 C20orf26 26074 broad.mit.edu 37 20 20144808 20144808 + Missense_Mutation SNP T T C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr20:20144808T>C uc002wru.2 + 11 1217 c.1141T>C c.(1141-1143)TAC>CAC p.Y381H C20orf26_uc010gcw.1_Missense_Mutation_p.Y335H|C20orf26_uc010zse.1_Missense_Mutation_p.Y381H|C20orf26_uc010zsf.1_Missense_Mutation_p.Y381H NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 381 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) CCGCCCCATCTACAGGGGAGC 0.507 NA 29 103 0 0 0.008361 0 0 NKX2-2 4821 broad.mit.edu 37 20 21492565 21492565 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr20:21492565C>G uc002wsi.2 - 2 1175 c.818G>C c.(817-819)TGG>TCG p.W273S NM_002509 NP_002500 O95096 NKX22_HUMAN NK2 transcription factor related, locus 2 273 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity pancreas(1)|skin(1) 2 CGGCGCTCACCAAGTCCACTG 0.677 NA 22 77 0 0 0.002299 0 0 PLUNC 51297 broad.mit.edu 37 20 31825632 31825632 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr20:31825632G>T uc002wyv.2 + 2 185 c.115G>T c.(115-117)GCC>TCC p.A39S PLUNC_uc002wyt.3_Missense_Mutation_p.A39S|PLUNC_uc002wyu.3_Missense_Mutation_p.A39S NM_130852 NP_570913 Q9NP55 PLUNC_HUMAN palate, lung and nasal epithelium associated 39 innate immune response extracellular region lipid binding 0 TGTGAATCCAGCCCTGCCCTT 0.468 NA 91 71 5.01286e-43 7.50015e-43 0.00361 1 0 AHCY 191 broad.mit.edu 37 20 32879309 32879309 + Silent SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr20:32879309C>A uc002xai.2 - 5 613 c.474G>T c.(472-474)ACG>ACT p.T158T AHCY_uc002xaj.2_Silent_p.T130T NM_000687 NP_000678 P23526 SAHH_HUMAN adenosylhomocysteinase isoform 1 158 NAD. methylation|xenobiotic metabolic process cytosol|melanosome adenosylhomocysteinase activity|protein binding 0 GGACCCCAGTCGTGGTCTCCT 0.512 NA 94 98 1.63847e-34 2.35439e-34 0.00361 1 0 MYH7B 57644 broad.mit.edu 37 20 33578868 33578868 + Silent SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr20:33578868C>A uc002xbi.1 + 22 2345 c.2253C>A c.(2251-2253)ATC>ATA p.I751I NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 709 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) TGGAGGGGATCCGGATCTGCC 0.632 NA 73 86 8.07507e-42 1.20084e-41 0.00361 1 0 BPI 671 broad.mit.edu 37 20 36965553 36965553 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr20:36965553C>T uc002xib.2 + 15 1493 c.1431C>T c.(1429-1431)TTC>TTT p.F477F NM_001725 NP_001716 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 477 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding ovary(4) 4 Myeloproliferative disorder(115;0.00878) CCTAGAACTTCCTGCTGTTCG 0.542 NA 92 234 0 0 0.00361 0 0 PTPRT 11122 broad.mit.edu 37 20 40714455 40714455 + Nonsense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr20:40714455G>T uc002xkg.2 - 28 4069 c.3885C>A c.(3883-3885)TGC>TGA p.C1295* PTPRT_uc010ggj.2_Nonsense_Mutation_p.C1314*|PTPRT_uc010ggi.2_Nonsense_Mutation_p.C498* NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1295 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TGGGCCCATAGCACCCGGAGG 0.542 NA 131 76 3.41043e-57 5.2304e-57 0.00361 1 0 PTPRT 11122 broad.mit.edu 37 20 40770587 40770587 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr20:40770587C>A uc002xkg.2 - 18 2922 c.2738G>T c.(2737-2739)CGC>CTC p.R913L PTPRT_uc010ggj.2_Missense_Mutation_p.R932L|PTPRT_uc010ggi.2_Missense_Mutation_p.R116L NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 913 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) ATTCTTATTGCGGTTTTCATC 0.502 NA 86 388 2.61895e-37 3.7967e-37 0.00361 1 0 L3MBTL 26013 broad.mit.edu 37 20 42164887 42164887 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr20:42164887G>A uc010zwh.1 + 18 2056 c.2010G>A c.(2008-2010)AAG>AAA p.K670K L3MBTL_uc002xkl.2_Silent_p.K602K|L3MBTL_uc002xkm.2_Silent_p.K602K|L3MBTL_uc010ggl.2_Silent_p.K607K|L3MBTL_uc002xkn.1_Silent_p.K361K|L3MBTL_uc002xko.2_Silent_p.K254K NM_015478 NP_056293 Q9Y468 LMBL1_HUMAN l(3)mbt-like isoform I 602 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CCCGCAAGAAGAACCTCTCAG 0.637 NA 6 24 0 0 0.001168 0 0 ZNF334 55713 broad.mit.edu 37 20 45130263 45130263 + Missense_Mutation SNP T T C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr20:45130263T>C uc002xsc.2 - 5 1899 c.1715A>G c.(1714-1716)TAT>TGT p.Y572C ZNF334_uc002xsa.2_Missense_Mutation_p.Y595C|ZNF334_uc002xsb.2_Missense_Mutation_p.Y534C|ZNF334_uc002xsd.2_Missense_Mutation_p.Y534C|ZNF334_uc010ghl.2_Missense_Mutation_p.Y571C NM_018102 NP_060572 Q9HCZ1 ZN334_HUMAN zinc finger protein 334 isoform a 572 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) ATTACACTCATAGGGTCTCTG 0.443 NA 124 123 0 0 0.00361 0 0 PREX1 57580 broad.mit.edu 37 20 47351100 47351100 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr20:47351100C>A uc002xtw.1 - 4 525 c.502G>T c.(502-504)GTG>TTG p.V168L NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 168 DH. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) AAGGCGCGCACGGTAGGGATC 0.557 NA 127 161 2.27795e-59 3.49904e-59 0.00361 1 0 SNAI1 6615 broad.mit.edu 37 20 48600685 48600685 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr20:48600685C>T uc002xuz.2 + 2 477 c.407C>T c.(406-408)CCC>CTC p.P136L NM_005985 NP_005976 O95863 SNAI1_HUMAN snail 1 homolog 136 Required for FBXL14-triggered degradation. epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;4.03e-06) GGCCAAGTGCCCAAGCAGCTG 0.602 NA 34 134 0 0 0.002836 0 0 FAM65C 140876 broad.mit.edu 37 20 49225195 49225195 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr20:49225195C>G uc002xvm.2 - 10 1071 c.753G>C c.(751-753)GAG>GAC p.E251D FAM65C_uc010zyt.1_Missense_Mutation_p.E255D|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.E251D NM_080829 NP_543019 Q96MK2 FA65C_HUMAN hypothetical protein LOC140876 251 ovary(2) 2 AGGCCTTCTCCTCTTCGTCCC 0.642 NA 60 231 0 0 0.00361 0 0 NFATC2 4773 broad.mit.edu 37 20 50007939 50007939 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr20:50007939C>A uc002xwd.2 - 10 2992 c.2772G>T c.(2770-2772)CAG>CAT p.Q924H NFATC2_uc002xwc.2_3'UTR|NFATC2_uc010zyv.1_3'UTR|NFATC2_uc010zyw.1_Missense_Mutation_p.Q705H|NFATC2_uc010zyx.1_3'UTR|NFATC2_uc010zyy.1_3'UTR|NFATC2_uc010zyz.1_Missense_Mutation_p.Q705H|NFATC2_uc002xwe.2_Missense_Mutation_p.Q904H NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 924 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) TCTTTTACGTCTGATTTCTGG 0.493 NA 32 200 2.20262e-25 2.97734e-25 0.002836 1 0 TSHZ2 128553 broad.mit.edu 37 20 51870957 51870957 + Silent SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr20:51870957T>A uc002xwo.2 + 2 1916 c.960T>A c.(958-960)GCT>GCA p.A320A NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 320 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) TCACCCCGGCTAAGAAACGCG 0.448 NA 46 185 0 0 0.00361 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872151 51872151 + Nonsense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr20:51872151C>A uc002xwo.2 + 2 3110 c.2154C>A c.(2152-2154)TGC>TGA p.C718* NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 718 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) CACCTTCCTGCTCCAGCCCAA 0.582 NA 86 65 9.11151e-29 1.26477e-28 0.00361 1 0 PCK1 5105 broad.mit.edu 37 20 56139383 56139383 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr20:56139383G>T uc002xyn.3 + 7 1283 c.1120G>T c.(1120-1122)GAT>TAT p.D374Y PCK1_uc010zzm.1_Missense_Mutation_p.D57Y NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 374 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) GGAAGGCATTGATGAGCCGCT 0.557 NA 67 53 6.75472e-32 9.52464e-32 0.00361 1 0 ZNF831 128611 broad.mit.edu 37 20 57767170 57767170 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr20:57767170C>T uc002yan.2 + 1 1096 c.1096C>T c.(1096-1098)CTT>TTT p.L366F NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 366 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) CCTGCACAGCCTTTCGGAGCA 0.532 NA 20 33 0 0 0.008871 0 0 OGFR 11054 broad.mit.edu 37 20 61444777 61444777 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr20:61444777C>T uc002ydj.2 + 7 1845 c.1810C>T c.(1810-1812)CCC>TCC p.P604S OGFR_uc002ydk.2_Missense_Mutation_p.P587S|OGFR_uc002ydl.2_Missense_Mutation_p.P552S|uc011aam.1_Intron NM_007346 NP_031372 Q9NZT2 OGFR_HUMAN opioid growth factor receptor 604 5.|7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK]. regulation of cell growth cytoplasm|membrane|nucleus opioid receptor activity 0 Breast(26;3.65e-08) GACCCCAGGCCCCCGCCCGGC 0.741 NA 9 15 0 0 0.008291 0 0 BIRC7 79444 broad.mit.edu 37 20 61869809 61869809 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr20:61869809T>A uc002yej.2 + 3 684 c.511T>A c.(511-513)TCC>ACC p.S171T BIRC7_uc010gkc.1_Missense_Mutation_p.S171T|BIRC7_uc002yei.2_Missense_Mutation_p.S171T|hsa-mir-3196|MI0014241_5'Flank NM_139317 NP_647478 Q96CA5 BIRC7_HUMAN livin inhibitor of apoptosis isoform alpha 171 activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change cytoplasm|nucleus enzyme binding|zinc ion binding ovary(1)|lung(1)|kidney(1) 3 all_cancers(38;2.72e-09) GGAGACTCACTCCCAGCTGCT 0.622 NA 30 50 0 0 0.008361 0 0 GMEB2 26205 broad.mit.edu 37 20 62221554 62221554 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr20:62221554G>A uc002yfp.1 - 9 1960 c.1481C>T c.(1480-1482)TCG>TTG p.S494L GMEB2_uc002yfo.1_Missense_Mutation_p.S416L|GMEB2_uc002yfq.1_Missense_Mutation_p.S494L NM_012384 NP_036516 Q9UKD1 GMEB2_HUMAN glucocorticoid modulatory element binding 494 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|metal ion binding 0 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) GGAGCCAGGCGAGGCCTGGGC 0.682 NA 16 68 0 0 0.003163 0 0 TPTE 7179 broad.mit.edu 37 21 10907001 10907001 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr21:10907001T>A uc002yip.1 - 24 1928 c.1560A>T c.(1558-1560)AAA>AAT p.K520N TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.K502N|TPTE_uc002yir.1_Missense_Mutation_p.K482N|TPTE_uc010gkv.1_Missense_Mutation_p.K382N NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 520 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTGCTTTTTGTTTATGTAGAT 0.343 NA 13 124 0 0 0.001855 0 0 TPTE 7179 broad.mit.edu 37 21 10933891 10933891 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr21:10933891G>T uc002yip.1 - 17 1356 c.988C>A c.(988-990)CTT>ATT p.L330I TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.L312I|TPTE_uc002yir.1_Missense_Mutation_p.L292I|TPTE_uc010gkv.1_Missense_Mutation_p.L192I NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 330 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATGTTTTCAAGATCTTGAGCC 0.318 NA 71 494 2.60632e-51 3.95385e-51 0.00361 1 0 TPTE 7179 broad.mit.edu 37 21 10934045 10934045 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr21:10934045G>T uc002yip.1 - 16 1300 c.932C>A c.(931-933)ACT>AAT p.T311N TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.T293N|TPTE_uc002yir.1_Missense_Mutation_p.T273N|TPTE_uc010gkv.1_Missense_Mutation_p.T173N NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 311 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTACTGTAGAGTGGGGACATT 0.299 NA 56 405 1.22119e-34 1.75737e-34 0.00361 1 0 LIPI 149998 broad.mit.edu 37 21 15554145 15554145 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr21:15554145G>A uc002yjm.2 - 4 650 c.640C>T c.(640-642)CCA>TCA p.P214S LIPI_uc010gkw.1_Missense_Mutation_p.P147S NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 193 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) CTATATGGTGGTTTTCTGGAG 0.403 NA 6 82 0 0 0.004482 0 0 CXADR 1525 broad.mit.edu 37 21 18937929 18937929 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr21:18937929G>T uc002yki.2 + 7 1135 c.1017G>T c.(1015-1017)AAG>AAT p.K339N CXADR_uc002ykh.1_3'UTR|CXADR_uc010gld.1_3'UTR|CXADR_uc010gle.1_3'UTR|CXADR_uc002ykj.1_Missense_Mutation_p.K312N NM_001338 NP_001329 P78310 CXAR_HUMAN coxsackie virus and adenovirus receptor 339 Cytoplasmic (Potential). blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction receptor activity ovary(1) 1 Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782) CACCTGCTAAGGTAGCTGCCC 0.478 NA 20 152 8.34094e-07 9.01226e-07 0.008871 1 0 TMPRSS15 5651 broad.mit.edu 37 21 19666671 19666671 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr21:19666671C>T uc002ykw.2 - 21 2433 c.2402G>A c.(2401-2403)GGT>GAT p.G801D NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 801 Extracellular (Potential).|Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 ATAATACAGACCCACAACCCA 0.532 NA 32 254 0 0 0.003755 0 0 ADAMTS1 9510 broad.mit.edu 37 21 28214825 28214825 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr21:28214825G>T uc002ymf.2 - 2 1365 c.910C>A c.(910-912)CTG>ATG p.L304M NM_006988 NP_008919 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 304 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding lung(3)|large_intestine(2)|central_nervous_system(1) 6 Breast(209;0.000962) Lung(58;0.215) ACCACCACCAGGCTAACTGAA 0.512 NA 86 41 7.83748e-43 1.17084e-42 0.00361 1 0 KRTAP13-3 337960 broad.mit.edu 37 21 31797877 31797877 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr21:31797877G>A uc002yob.1 - 1 354 c.354C>T c.(352-354)TCC>TCT p.S118S NM_181622 NP_853653 Q3SY46 KR133_HUMAN keratin associated protein 13-3 118 intermediate filament ovary(1)|lung(1) 2 AGCCCAGTGAGGAGCAGCTCC 0.488 NA 36 19 0 0 0.004878 0 0 KRTAP19-7 337974 broad.mit.edu 37 21 31933555 31933555 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr21:31933555G>T uc011adb.1 - 1 54 c.54C>A c.(52-54)TTC>TTA p.F18L NM_181614 NP_853645 Q3SYF9 KR197_HUMAN keratin associated protein 19-7 18 intermediate filament 0 CCAGGCCACCGAATCCTCCAC 0.557 NA 25 187 1.10923e-09 1.24519e-09 0.00278 1 0 KRTAP11-1 337880 broad.mit.edu 37 21 32253354 32253354 + Nonstop_Mutation SNP A A T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr21:32253354A>T uc002yov.2 - 1 521 c.490T>A c.(490-492)TAA>AAA p.*164K NM_175858 NP_787054 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 164 keratin filament structural molecule activity pancreas(1) 1 CTACACACTTAGCAGGTTCTT 0.567 NA 28 179 0 0 0.00632 0 0 DOPEY2 9980 broad.mit.edu 37 21 37618415 37618415 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr21:37618415G>A uc002yvg.2 + 19 4216 c.4137G>A c.(4135-4137)CAG>CAA p.Q1379Q DOPEY2_uc011aeb.1_Silent_p.Q1328Q|DOPEY2_uc002yvh.2_Silent_p.Q230Q NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 1379 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 GCTTGCTGCAGAGGTGCAAAG 0.572 NA 6 138 0 0 0.001984 0 0 SIM2 6493 broad.mit.edu 37 21 38115717 38115717 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr21:38115717C>A uc002yvr.2 + 9 1084 c.1028C>A c.(1027-1029)TCC>TAC p.S343Y SIM2_uc002yvq.2_Missense_Mutation_p.S343Y NM_005069 NP_005060 Q14190 SIM2_HUMAN single-minded homolog 2 long isoform 343 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(1) 1 CTTCAGCTGTCCCTGGAGCAG 0.567 NA 35 207 3.76114e-14 4.46777e-14 0.004289 1 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959964 45959964 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr21:45959964C>G uc002zfh.1 - 1 115 c.70G>C c.(70-72)GAG>CAG p.E24Q C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198691 NP_941964 P60331 KR101_HUMAN keratin associated protein 10-1 24 keratin filament skin(1) 1 CAGCAGCTCTCTGGGCAGGCA 0.706 NA 124 76 0 0 0.00361 0 0 KRTAP10-2 386679 broad.mit.edu 37 21 45970704 45970704 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr21:45970704G>C uc002zfi.1 - 1 685 c.638C>G c.(637-639)TCT>TGT p.S213C C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198693 NP_941966 P60368 KR102_HUMAN keratin associated protein 10-2 213 20.|22 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1) 1 CTGGCAGCTAGACTGCTGGCA 0.642 NA 46 333 0 0 0.00361 0 0 KRTAP10-2 386679 broad.mit.edu 37 21 45970938 45970938 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr21:45970938G>T uc002zfi.1 - 1 451 c.404C>A c.(403-405)TCC>TAC p.S135Y C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198693 NP_941966 P60368 KR102_HUMAN keratin associated protein 10-2 135 22 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1) 1 CTGCTGGCAGGAGGAAGAGGC 0.617 NA 11 313 1.58986e-06 1.70841e-06 0.008291 1 0 COL6A1 1291 broad.mit.edu 37 21 47421172 47421172 + Nonsense_Mutation SNP A A T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr21:47421172A>T uc002zhu.1 + 30 1930 c.1828A>T c.(1828-1830)AAG>TAG p.K610* COL6A1_uc010gqd.1_5'UTR|COL6A1_uc002zhv.1_5'UTR|COL6A1_uc002zhw.1_5'Flank NM_001848 NP_001839 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 precursor 610 C-terminal globular domain. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding ovary(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) TGCAGAATGCAAGTGCGGCCC 0.647 NA 117 65 0 0 0.00361 0 0 POTEH 23784 broad.mit.edu 37 22 16287306 16287306 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr22:16287306G>T uc010gqp.2 - 1 632 c.580C>A c.(580-582)CTC>ATC p.L194I POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_5'UTR|POTEH_uc002zlj.1_Missense_Mutation_p.L29I NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN ANKRD26-like family C, member 3 194 ANK 1. skin(1) 1 ATGACGATGAGATCCTTTCTG 0.562 NA 57 276 1.12115e-39 1.64235e-39 0.00361 1 0 GNAZ 2781 broad.mit.edu 37 22 23438506 23438506 + Silent SNP G G A rs34937804 byFrequency TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr22:23438506G>A uc002zwu.1 + 2 1161 c.624G>A c.(622-624)GAG>GAA p.E208E RTDR1_uc002zwt.2_Intron NM_002073 NP_002064 P19086 GNAZ_HUMAN guanine nucleotide binding protein, alpha z 208 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity kidney(1)|skin(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) AGAGGTCAGAGCGCAAAAAGT 0.567 NA 174 86 0 0 0.00361 0 0 SMTN 6525 broad.mit.edu 37 22 31493257 31493257 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr22:31493257G>T uc003ajl.1 + 16 2310 c.2092G>T c.(2092-2094)GGC>TGC p.G698C SMTN_uc003ajk.1_Missense_Mutation_p.G698C|SMTN_uc003ajm.1_Missense_Mutation_p.G698C|SMTN_uc011ale.1_Missense_Mutation_p.G783C|SMTN_uc011alf.1_Missense_Mutation_p.G754C|SMTN_uc003ajn.1_Missense_Mutation_p.G721C|SMTN_uc011alg.1_Missense_Mutation_p.G154C|SMTN_uc003ajo.1_Missense_Mutation_p.G221C|SMTN_uc010gwe.1_Missense_Mutation_p.G78C NM_006932 NP_008863 P53814 SMTN_HUMAN smoothelin isoform c 698 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle large_intestine(2)|pancreas(1) 3 TTTTGCAGATGGCAGTGGCAG 0.582 NA 75 68 6.30617e-38 9.18283e-38 0.00361 1 0 TRIOBP 11078 broad.mit.edu 37 22 38119801 38119801 + Missense_Mutation SNP A A G rs71317064 TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr22:38119801A>G uc003atr.2 + 7 1509 c.1238A>G c.(1237-1239)AAA>AGA p.K413R TRIOBP_uc003atu.2_Missense_Mutation_p.K241R|TRIOBP_uc003atq.1_Missense_Mutation_p.K413R|TRIOBP_uc003ats.1_Missense_Mutation_p.K241R NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 413 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) GACAATCCCAAAGCCTCCAGA 0.582 NA 4 140 0 0 0.009096 0 0 APOBEC3H 164668 broad.mit.edu 37 22 39497382 39497382 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr22:39497382G>C uc011aoh.1 + 3 357 c.291G>C c.(289-291)AAG>AAC p.K97N APOBEC3H_uc011aoi.1_5'Flank|APOBEC3H_uc003axa.3_5'Flank NM_181773 NP_861438 Q6NTF7 ABC3H_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 97 DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition cytoplasm|nucleus cytidine deaminase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Melanoma(58;0.04) ACTTCATCAAGGCTCACGACC 0.602 NA 19 83 0 0 0.008871 0 0 CPT1B 1375 broad.mit.edu 37 22 51014701 51014701 + Missense_Mutation SNP T T C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr22:51014701T>C uc003bmk.3 - 5 787 c.625A>G c.(625-627)AAA>GAA p.K209E CPT1B_uc003bml.2_Missense_Mutation_p.K209E|CPT1B_uc003bmm.2_Missense_Mutation_p.K209E|CPT1B_uc003bmo.2_Missense_Mutation_p.K209E|CPT1B_uc011asa.1_Missense_Mutation_p.K175E|CPT1B_uc003bmn.2_Missense_Mutation_p.K209E|CPT1B_uc011asb.1_Missense_Mutation_p.K209E|CHKB-CPT1B_uc003bmp.2_Missense_Mutation_p.K6E NM_001145137 NP_001138609 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B isoform a 209 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1) 2 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) TGGAATTCTTTGGCCAGCAAC 0.537 Esophageal Squamous(170;988 1933 25577 30295 48163) NA OREG0026685 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 75 0 0 0.00623 0 0 UBE2E2 7325 broad.mit.edu 37 3 23250330 23250330 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:23250330G>T uc003ccg.2 + 2 320 c.140G>T c.(139-141)AGC>ATC p.S47I UBE2E2_uc010hfc.2_RNA NM_152653 NP_689866 Q96LR5 UB2E2_HUMAN ubiquitin-conjugating enzyme E2E 2 47 ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination nucleolus ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity 0 AAAATATCCAGCAAAACCGCT 0.363 GBM(85;1941 2083 9456) NA 10 31 5.50884e-06 5.83639e-06 0.001368 1 0 SCN11A 11280 broad.mit.edu 37 3 38888582 38888582 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:38888582G>A uc011ays.1 - 26 5178 c.4979C>T c.(4978-4980)GCA>GTA p.A1660V NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 1660 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ATTTGGCTTTGCGACACGCAA 0.438 NA 48 86 0 0 0.00361 0 0 SLC25A38 54977 broad.mit.edu 37 3 39432974 39432974 + Missense_Mutation SNP A A C rs150252435 TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:39432974A>C uc003cjo.2 + 4 720 c.319A>C c.(319-321)ACT>CCT p.T107P NM_017875 NP_060345 Q96DW6 S2538_HUMAN solute carrier family 25, member 38 107 Solcar 1.|Helical; Name=2; (Potential). erythrocyte differentiation|heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane 0 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) CTACTTTGGCACTCTCTACTC 0.498 NA 171 427 0 0 0.00361 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266166 41266166 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:41266166G>A uc010hia.1 + 4 319 c.163G>A c.(163-165)GAG>AAG p.E55K CTNNB1_uc003ckp.2_Missense_Mutation_p.E55K|CTNNB1_uc003ckq.2_Missense_Mutation_p.E55K|CTNNB1_uc003ckr.2_Missense_Mutation_p.E55K|CTNNB1_uc011azf.1_Missense_Mutation_p.E48K|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 55 adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.A5_A80del(63)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.W25_I140del(4)|p.E55K(3)|p.T3_A126del(2)|p.V22_L139>V(2)|p.M5_N141>D(2)|p.?(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A20_Q143del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.A5_Q72del(1)|p.A5_G80>(1)|p.Q28_Q61del(1)|p.M1_A87del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.E55G(1)|p.V22_G80>NNNNN(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.D6_K133del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.A5_R90del(1)|p.W25_A80del(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.A5_D144>D(1)|p.A20_R151del(1)|p.L7_I140del(1)|p.A21_A80del(1)|p.E9_A80del(1)|p.K19_Y142>V(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.V22_A80del(1)|p.M8_A80del(1)|p.E9_I140del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.D6_I140del(1)|p.S23_I140del(1)|p.A20_L148del(1)|p.Q28_I140del(1)|p.A20_Q72del(1)|p.A20_S111del(1)|p.Y30_A80del(1) CTNNB1/PLAG1(60) liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1) 3166 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) TCCTGAGGAAGAGGATGTGGA 0.463 Colon(6;3 56 14213 18255) 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of 20 55 0 0 0.010504 0 0 SETD2 29072 broad.mit.edu 37 3 47162371 47162371 + Nonsense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:47162371G>C uc003cqs.2 - 3 3808 c.3755C>G c.(3754-3756)TCA>TGA p.S1252* SETD2_uc003cqv.2_Nonsense_Mutation_p.S1241* NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 1252 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) GAGCTCTTCTGATGAGTGCAA 0.453 NA N|F|S|Mis clear cell renal carcinoma 32 119 0 0 0.012213 0 0 MAP4 4134 broad.mit.edu 37 3 47956430 47956430 + Splice_Site SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:47956430C>G uc003csb.2 - 8 2403 c.1877_splice c.e8-1 p.E626_splice MAP4_uc003csc.3_Splice_Site_p.E626_splice|MAP4_uc011bbf.1_Splice_Site_p.E603_splice|MAP4_uc003csf.3_Splice_Site_p.E643_splice NM_002375 NP_002366 P27816 MAP4_HUMAN microtubule-associated protein 4 isoform 1 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) GTGACGGTTTCTAAAGGTAAT 0.413 NA 45 139 0 0 0.00361 0 0 CELSR3 1951 broad.mit.edu 37 3 48699679 48699679 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:48699679C>G uc003cul.2 - 1 670 c.389G>C c.(388-390)GGG>GCG p.G130A CELSR3_uc003cuf.1_Missense_Mutation_p.G200A NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 130 Extracellular (Potential). homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TAACACAGACCCTGGTCCCTG 0.622 NA 72 174 0 0 0.00361 0 0 USP19 10869 broad.mit.edu 37 3 49152706 49152706 + Silent SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:49152706C>A uc003cwd.1 - 12 1829 c.1668G>T c.(1666-1668)GCG>GCT p.A556A USP19_uc003cwa.2_Silent_p.A364A|USP19_uc003cvz.3_Silent_p.A659A|USP19_uc011bcg.1_Silent_p.A647A|USP19_uc003cwb.2_Silent_p.A642A|USP19_uc003cwc.1_Silent_p.A314A|USP19_uc011bch.1_Silent_p.A657A NM_006677 NP_006668 O94966 UBP19_HUMAN ubiquitin thioesterase 19 556 Cytoplasmic (Potential). ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(4)|breast(2)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCTTCCACAGCGCCCGAAGCA 0.602 NA 16 48 2.32078e-09 2.59631e-09 0.003163 1 0 RNF123 63891 broad.mit.edu 37 3 49753568 49753568 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:49753568G>C uc003cxh.2 + 34 3459 c.3373G>C c.(3373-3375)GAG>CAG p.E1125Q RNF123_uc003cxi.2_RNA NM_022064 NP_071347 Q5XPI4 RN123_HUMAN ring finger protein 123 1125 cytoplasm ligase activity|protein binding|zinc ion binding kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) GGTGACAGCTGAGAGGAACCT 0.602 NA 9 24 0 0 0.006214 0 0 DOCK3 1795 broad.mit.edu 37 3 51418789 51418789 + Silent SNP T T C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:51418789T>C uc011bds.1 + 53 5915 c.5892T>C c.(5890-5892)CCT>CCC p.P1964P NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1964 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GCGTCATCCCTCAGGACCCCA 0.677 NA 3 72 0 0 0.004672 0 0 STAB1 23166 broad.mit.edu 37 3 52557671 52557671 + Missense_Mutation SNP C C A rs147205277 TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:52557671C>A uc003dej.2 + 66 7368 c.7294C>A c.(7294-7296)CCA>ACA p.P2432T STAB1_uc003del.2_Missense_Mutation_p.P344T NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 2432 Extracellular (Potential).|FAS1 7. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CCTGCAGGCCCCAGGGACAGT 0.632 NA 20 55 5.35267e-07 5.82199e-07 0.007413 1 0 TMEM110 375346 broad.mit.edu 37 3 52886638 52886638 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:52886638C>T uc003dge.2 - 3 367 c.286G>A c.(286-288)GAA>AAA p.E96K TMEM110_uc003dgc.3_Missense_Mutation_p.E96K NM_198563 NP_940965 Q86TL2 TM110_HUMAN transmembrane protein 110 96 integral to membrane large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541) GGGTCCTCTTCAGTGAGATCT 0.443 NA 9 218 0 0 0.010729 0 0 PDZRN3 23024 broad.mit.edu 37 3 73432844 73432844 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:73432844G>T uc003dpl.1 - 10 2969 c.2873C>A c.(2872-2874)ACC>AAC p.T958N PDZRN3_uc011bgh.1_Missense_Mutation_p.T615N|PDZRN3_uc010hoe.1_Missense_Mutation_p.T656N|PDZRN3_uc011bgf.1_Missense_Mutation_p.T675N|PDZRN3_uc011bgg.1_Missense_Mutation_p.T678N NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 958 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GTCGTCGGTGGTCATGCCGCT 0.682 NA 28 63 4.87955e-14 5.7823e-14 0.005443 1 0 CADM2 253559 broad.mit.edu 37 3 86028411 86028411 + Silent SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:86028411T>A uc003dqj.2 + 8 1667 c.1041T>A c.(1039-1041)TCT>TCA p.S347S CADM2_uc003dqk.2_Intron|CADM2_uc003dql.2_Silent_p.S349S NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN immunoglobulin superfamily, member 4D 347 Thr-rich.|Extracellular (Potential). adherens junction organization|cell junction assembly integral to membrane|plasma membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) CAACCACATCTGCAACAACCA 0.443 NA 91 192 0 0 0.00361 0 0 VGLL3 389136 broad.mit.edu 37 3 87017950 87017950 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:87017950G>C uc003dqn.2 - 3 1091 c.727C>G c.(727-729)CAT>GAT p.H243D NM_016206 NP_057290 A8MV65 VGLL3_HUMAN colon carcinoma related protein 243 His-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) tggtgatgatggtggcggtgg 0.478 NA 27 49 0 0 0.003954 0 0 FILIP1L 11259 broad.mit.edu 37 3 99568743 99568743 + Nonsense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:99568743G>A uc003dtm.2 - 5 2240 c.1777C>T c.(1777-1779)CAA>TAA p.Q593* C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Nonsense_Mutation_p.Q593*|FILIP1L_uc010hpf.2_Nonsense_Mutation_p.Q169*|FILIP1L_uc010hpg.2_Nonsense_Mutation_p.Q353*|FILIP1L_uc003dtn.2_Nonsense_Mutation_p.Q353*|FILIP1L_uc003dtp.1_Nonsense_Mutation_p.Q353* NM_182909 NP_878913 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like isoform 1 593 Potential. cytoplasm|membrane|myosin complex|nucleus ovary(1) 1 TCCAATGATTGAAGCCTATTT 0.323 NA 4 156 0 0 0.009096 0 0 TOMM70A 9868 broad.mit.edu 37 3 100105689 100105689 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:100105689G>C uc003dtw.2 - 2 890 c.458C>G c.(457-459)TCT>TGT p.S153C NM_014820 NP_055635 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 153 Cytoplasmic (Potential).|TPR 2. protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity ovary(1) 1 ATAAAATGTAGAAAGGTCAAC 0.348 NA 4 78 0 0 0.009096 0 0 ABI3BP 25890 broad.mit.edu 37 3 100511545 100511545 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:100511545C>G uc003dun.2 - 23 2041 c.1956G>C c.(1954-1956)AAG>AAC p.K652N ABI3BP_uc003duj.2_Missense_Mutation_p.K207N|ABI3BP_uc003duk.2_Missense_Mutation_p.K336N|ABI3BP_uc003dul.2_Missense_Mutation_p.K457N|ABI3BP_uc011bhd.1_Missense_Mutation_p.K606N|ABI3BP_uc003dum.2_Missense_Mutation_p.K38N NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein 652 Pro-rich. extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 CCTGAGTTGTCTTTGCTAGTT 0.368 NA 5 75 0 0 0.000602 0 0 ZPLD1 131368 broad.mit.edu 37 3 102196379 102196379 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:102196379C>T uc003dvs.1 + 18 2047 c.1165C>T c.(1165-1167)CTT>TTT p.L389F ZPLD1_uc003dvt.1_Missense_Mutation_p.L405F|ZPLD1_uc011bhg.1_Missense_Mutation_p.L389F NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 389 Helical; (Potential). integral to membrane ovary(2)|skin(2)|central_nervous_system(1) 5 CTTTTCTCTTCTTCTGTGCTC 0.483 NA 141 184 0 0 0.00361 0 0 DZIP3 9666 broad.mit.edu 37 3 108353773 108353773 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:108353773G>T uc003dxd.2 + 10 1294 c.872G>T c.(871-873)TGC>TTC p.C291F DZIP3_uc003dxf.1_Missense_Mutation_p.C291F|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.C291F|DZIP3_uc003dxg.1_Missense_Mutation_p.C14F NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 291 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CATAAAATTTGCTGGAAAAAG 0.264 NA 34 90 5.71845e-15 6.88462e-15 0.005524 1 0 GAP43 2596 broad.mit.edu 37 3 115395427 115395428 + Missense_Mutation DNP GG GG TC TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:115395427_115395428GG>TC uc003ebq.2 + 2 984_985 c.598_599GG>TC c.(598-600)GGG>TCG p.G200S GAP43_uc003ebr.2_Missense_Mutation_p.G236S NM_002045 NP_002036 P17677 NEUM_HUMAN growth associated protein 43 isoform 2 200 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.164) AACGGAGACTGGGGAGAGCAGC 0.426 NA 6 28 0 0 0.004672 0 0 STXBP5L 9515 broad.mit.edu 37 3 120764291 120764291 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:120764291G>A uc003eec.3 + 5 519 c.379G>A c.(379-381)GTC>ATC p.V127I STXBP5L_uc011bji.1_Missense_Mutation_p.V127I NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 127 WD 2. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) GGGTGCCTTGGTCAGTGCAAG 0.353 NA 12 272 0 0 0.004007 0 0 CASR 846 broad.mit.edu 37 3 122002903 122002903 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:122002903G>T uc003eev.3 + 7 2474 c.2102G>T c.(2101-2103)CGT>CTT p.R701L CASR_uc003eew.3_Missense_Mutation_p.R711L NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 701 Cytoplasmic (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) AAAACCAACCGTGTCCTCCTG 0.602 NA 25 73 5.45024e-15 6.56978e-15 0.00333 1 0 UMPS 7372 broad.mit.edu 37 3 124456947 124456947 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:124456947G>C uc003ehl.3 + 3 949 c.843G>C c.(841-843)AAG>AAC p.K281N UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Missense_Mutation_p.K103N|UMPS_uc011bkb.1_Missense_Mutation_p.K189N|UMPS_uc011bkc.1_Missense_Mutation_p.K103N|UMPS_uc003ehn.3_Missense_Mutation_p.K103N|UMPS_uc011bkd.1_Missense_Mutation_p.K103N NM_000373 NP_000364 P11172 UMPS_HUMAN uridine monophosphate synthase 281 OMPdecase. 'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process cytosol|nucleus orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity kidney(1) 1 GBM - Glioblastoma multiforme(114;0.146) GCATGCTGAAGACTCATGTAG 0.413 NA 28 83 0 0 0.005443 0 0 CCDC37 348807 broad.mit.edu 37 3 126132992 126132992 + Silent SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:126132992C>G uc003eiu.1 + 4 294 c.195C>G c.(193-195)CTC>CTG p.L65L CCDC37_uc010hsg.1_Silent_p.L65L NM_182628 NP_872434 Q494V2 CCD37_HUMAN coiled-coil domain containing 37 65 ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.166) TCTTCTTGCTCAGAGATCAGG 0.567 NA 16 398 0 0 0.006122 0 0 CCDC37 348807 broad.mit.edu 37 3 126133017 126133017 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:126133017C>G uc003eiu.1 + 4 319 c.220C>G c.(220-222)CTC>GTC p.L74V CCDC37_uc010hsg.1_Missense_Mutation_p.L74V NM_182628 NP_872434 Q494V2 CCD37_HUMAN coiled-coil domain containing 37 74 ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.166) GAATAAGGCTCTCTCCGTGAG 0.552 NA 57 236 0 0 0.00361 0 0 Unknown 0 broad.mit.edu 37 3 129137199 129137199 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:129137199G>A uc003emg.2 - 3 742 c.579C>T c.(577-579)TAC>TAT p.Y193Y NM_207307 NP_997190 hypothetical protein LOC90288 NA GGCTATGCAGGTAGGAGTACA 0.597 NA 11 29 0 0 0.008291 0 0 TRH 7200 broad.mit.edu 37 3 129695884 129695884 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:129695884G>A uc003enc.2 + 3 1115 c.554G>A c.(553-555)CGC>CAC p.R185H NM_007117 NP_009048 P20396 TRH_HUMAN thyrotropin-releasing hormone 185 cell-cell signaling|hormone-mediated signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|thyrotropin-releasing hormone activity ovary(1) 1 CCTGAAAAACGCCAGCATCCG 0.532 Esophageal Squamous(60;321 1330 17401 41911) NA 33 53 0 0 0.003755 0 0 IGSF10 285313 broad.mit.edu 37 3 151163029 151163029 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:151163029G>A uc011bod.1 - 4 4740 c.4740C>T c.(4738-4740)TAC>TAT p.Y1580Y NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 1580 cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CAATTTCTGAGTATGGTTTGT 0.433 NA 10 214 0 0 0.006214 0 0 PLCH1 23007 broad.mit.edu 37 3 155303979 155303979 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:155303979C>A uc011bok.1 - 4 716 c.439G>T c.(439-441)GTG>TTG p.V147L PLCH1_uc011boj.1_Missense_Mutation_p.V147L|PLCH1_uc011bol.1_Missense_Mutation_p.V129L NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 147 EF-hand 1. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GTCTGCTTCACCCATGTGCAG 0.408 NA 51 76 2.76378e-25 3.72048e-25 0.00361 1 0 SHOX2 6474 broad.mit.edu 37 3 157820646 157820646 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:157820646C>A uc003fbr.2 - 2 515 c.376G>T c.(376-378)GAT>TAT p.D126Y SHOX2_uc003fbs.2_Missense_Mutation_p.D150Y|SHOX2_uc010hvw.2_Missense_Mutation_p.D126Y NM_006884 NP_006875 O60902 SHOX2_HUMAN short stature homeobox 2 isoform a 126 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) CCTTTCGCATCCTCTTTGCGA 0.483 NA 42 115 7.05121e-23 9.30039e-23 0.010771 1 0 SI 6476 broad.mit.edu 37 3 164757711 164757711 + Nonsense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:164757711C>T uc003fei.2 - 19 2270 c.2208G>A c.(2206-2208)TGG>TGA p.W736* NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 736 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ATGCAGGGCCCCACAAAAACT 0.338 NA HNSCC(35;0.089) 4 218 0 0 0.001168 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 Colon(199;1504 1750 3362 26421 31210 32040) E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 5 98 0 0 0.000602 0 0 CCDC39 339829 broad.mit.edu 37 3 180364997 180364997 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:180364997G>A uc010hxe.2 - 11 1512 c.1397C>T c.(1396-1398)TCA>TTA p.S466L CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 466 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) CTTTAACCGTGACATTCTCCG 0.318 NA 7 44 0 0 0.001984 0 0 DGKG 1608 broad.mit.edu 37 3 186038239 186038239 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:186038239C>T uc003fqa.2 - 2 547 c.10G>A c.(10-12)GAA>AAA p.E4K DGKG_uc003fqb.2_Missense_Mutation_p.E4K|DGKG_uc003fqc.2_Missense_Mutation_p.E4K|DGKG_uc011brx.1_Missense_Mutation_p.E4K NM_001346 NP_001337 P49619 DGKG_HUMAN diacylglycerol kinase gamma isoform 1 4 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) ACCCACCGTTCTTCACCCATT 0.483 NA 14 100 0 0 0.004007 0 0 RFC4 5984 broad.mit.edu 37 3 186508170 186508170 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:186508170C>A uc003fqz.2 - 9 1050 c.827G>T c.(826-828)GGA>GTA p.G276V RFC4_uc011bsc.1_Missense_Mutation_p.G276V NM_002916 NP_002907 P35249 RFC4_HUMAN replication factor C 4 276 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1) 5 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) AGCAAATACTCCATCAATTTT 0.418 NA 30 63 5.60225e-13 6.56723e-13 0.009535 1 0 OSTN 344901 broad.mit.edu 37 3 190936629 190936629 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:190936629G>A uc011bsn.1 + 2 196 c.196G>A c.(196-198)GAT>AAT p.D66N NM_198184 NP_937827 P61366 OSTN_HUMAN osteocrin precursor 66 cell differentiation|multicellular organismal development|ossification hormone activity pancreas(1)|skin(1) 2 all_cancers(143;6.79e-09)|Ovarian(172;0.103) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000254) CTTGCTTCTTGATGAATTGGT 0.453 NA 42 53 0 0 0.00623 0 0 TNK2 10188 broad.mit.edu 37 3 195595457 195595457 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:195595457G>A uc003fvu.1 - 12 2210 c.1667C>T c.(1666-1668)CCG>CTG p.P556L TNK2_uc003fvq.1_5'UTR|TNK2_uc003fvr.1_Missense_Mutation_p.P81L|TNK2_uc003fvs.1_Missense_Mutation_p.P588L|TNK2_uc003fvt.1_Missense_Mutation_p.P634L|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_3'UTR NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 556 Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1) 10 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CTTGGTGCCCGGCACCCGCGC 0.726 NA 4 26 0 0 0.009096 0 0 SLC26A1 10861 broad.mit.edu 37 4 984068 984068 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:984068G>T uc003gcb.2 - 4 1037 c.659C>A c.(658-660)TCC>TAC p.S220Y SLC26A1_uc003gbx.2_Intron|IDUA_uc003gby.2_Intron|IDUA_uc003gbz.2_Intron|IDUA_uc003gca.2_Intron|SLC26A1_uc003gcc.2_Missense_Mutation_p.S220Y NM_213613 NP_998778 Q9H2B4 S26A1_HUMAN solute carrier family 26, member 1 isoform a 220 integral to membrane|plasma membrane secondary active sulfate transmembrane transporter activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GATGGTCACGGAGGCCCCCAT 0.672 NA 16 17 1.15088e-07 1.25737e-07 0.004007 1 0 CRIPAK 285464 broad.mit.edu 37 4 1389250 1389251 + Nonsense_Mutation DNP GG GG TT TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:1389250_1389251GG>TT uc003gdf.2 + 1 3911_3912 c.951_952GG>TT c.(949-954)ATGGAG>ATTTAG p.317_318ME>I* NM_175918 NP_787114 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 317_318 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0106) GTGCCCATATGGAGTGCCCGCC 0.663 NA 254 346 0 0 0.004672 0 0 POLN 353497 broad.mit.edu 37 4 2130952 2130952 + Silent SNP C C A rs141684891 byFrequency TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:2130952C>A uc003ger.2 - 16 1821 c.1821G>T c.(1819-1821)CCG>CCT p.P607P POLN_uc010icg.1_Silent_p.P55P|POLN_uc010ich.1_Silent_p.P139P NM_181808 NP_861524 Q7Z5Q5 DPOLN_HUMAN DNA-directed DNA polymerase nu 607 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(23;0.0955) ACATGGCCCTCGGGGAGATCG 0.403 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 45 55 8.72198e-27 1.19213e-26 0.00361 1 0 EVC2 132884 broad.mit.edu 37 4 5633709 5633709 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:5633709C>A uc003gij.2 - 11 1575 c.1521G>T c.(1519-1521)CAG>CAT p.Q507H EVC2_uc011bwb.1_Translation_Start_Site|EVC2_uc003gik.2_Missense_Mutation_p.Q427H NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 507 Potential. integral to membrane large_intestine(3)|ovary(2) 5 TCAAGTGCTCCTGTTCCAGGC 0.488 NA 31 81 6.38683e-12 7.42479e-12 0.008361 1 0 KIAA0232 9778 broad.mit.edu 37 4 6865424 6865424 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:6865424G>T uc003gjr.3 + 7 3778 c.3315G>T c.(3313-3315)CGG>CGT p.R1105R KIAA0232_uc003gjq.3_Silent_p.R1105R NM_014743 NP_055558 Q92628 K0232_HUMAN hypothetical protein LOC9778 1105 ATP binding ovary(2) 2 TCTCTCCTCGGACTCACTTTC 0.458 NA 50 79 1.81118e-26 2.4618e-26 0.00361 1 0 SORCS2 57537 broad.mit.edu 37 4 7728547 7728547 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:7728547C>T uc003gkb.3 + 21 2786 c.2786C>T c.(2785-2787)TCG>TTG p.S929L SORCS2_uc011bwi.1_Missense_Mutation_p.S757L NM_020777 NP_065828 Q96PQ0 SORC2_HUMAN VPS10 domain receptor protein SORCS 2 precursor 929 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(1)|central_nervous_system(1) 2 ACGCGGTTTTCGGACACGGGC 0.662 NA 7 223 0 0 0.001984 0 0 CPZ 8532 broad.mit.edu 37 4 8603114 8603114 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:8603114G>C uc003glm.2 + 3 512 c.386G>C c.(385-387)TGC>TCC p.C129S CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_5'UTR|CPZ_uc003glo.2_Missense_Mutation_p.C118S|CPZ_uc003glp.2_RNA NM_001014447 NP_001014447 Q66K79 CBPZ_HUMAN carboxypeptidase Z isoform 1 129 FZ. proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2)|pancreas(1) 3 CGGGAGGTCTGCCAGCCCGCC 0.687 NA 6 14 0 0 0.001168 0 0 BOD1L 259282 broad.mit.edu 37 4 13606479 13606479 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:13606479C>G uc003gmz.1 - 10 2162 c.2045G>C c.(2044-2046)CGC>CCC p.R682P BOD1L_uc010idr.1_Missense_Mutation_p.R19P NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 682 Lys-rich. DNA binding ovary(5)|breast(1) 6 AATTTCTGAGCGTTCTACTTG 0.398 NA 218 399 0 0 0.00361 0 0 SLIT2 9353 broad.mit.edu 37 4 20530608 20530608 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:20530608G>C uc003gpr.1 + 16 1703 c.1499G>C c.(1498-1500)TGC>TCC p.C500S SLIT2_uc003gps.1_Missense_Mutation_p.C492S NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 500 LRRNT 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 AGTGGAGACTGCTTTGCGGAT 0.388 NA 56 113 0 0 0.00361 0 0 PCDH7 5099 broad.mit.edu 37 4 30724649 30724649 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:30724649C>A uc003gsk.1 + 1 2613 c.1605C>A c.(1603-1605)TTC>TTA p.F535L PCDH7_uc011bxw.1_Missense_Mutation_p.F488L|PCDH7_uc011bxx.1_Missense_Mutation_p.F535L NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 535 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 CGCCCATGTTCGGCCAGTCGG 0.622 NA 7 63 0.000442599 0.000458023 0.006214 1 0 PCDH7 5099 broad.mit.edu 37 4 31144127 31144127 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:31144127G>T uc011bxx.1 + 3 4408 c.3400G>T c.(3400-3402)GGG>TGG p.G1134W PCDH7_uc011bxw.1_Missense_Mutation_p.G1087W NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor Error:Variant_position_missing_in_O60245_after_alignment homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 AGCCCTGACTGGGAAGTGCAC 0.507 NA 75 123 6.20995e-33 8.80717e-33 0.00361 1 0 GABRG1 2565 broad.mit.edu 37 4 46125841 46125841 + Silent SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:46125841C>G uc003gxb.2 - 1 242 c.90G>C c.(88-90)CTG>CTC p.L30L NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 30 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TTCCCAAATGCAGGGTCAGTA 0.418 NA 38 62 0 0 0.00623 0 0 ATP10D 57205 broad.mit.edu 37 4 47593390 47593390 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:47593390G>A uc003gxk.1 + 23 4437 c.4273G>A c.(4273-4275)GAA>AAA p.E1425K ATP10D_uc003gxl.1_Missense_Mutation_p.E673K NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 1425 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 CAAAGGTAAAGAAAGCTAGAT 0.418 NA 32 115 0 0 0.012213 0 0 KIAA1211 57482 broad.mit.edu 37 4 57181263 57181263 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:57181263C>T uc003hbk.2 + 8 1986 c.1595C>T c.(1594-1596)ACC>ATC p.T532I KIAA1211_uc010iha.2_Missense_Mutation_p.T525I|KIAA1211_uc011bzz.1_Missense_Mutation_p.T442I|KIAA1211_uc003hbm.1_Missense_Mutation_p.T418I NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 532 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) GAGAGACAGACCATGCCCCGG 0.647 NA 22 26 0 0 0.003954 0 0 LPHN3 23284 broad.mit.edu 37 4 62813870 62813870 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:62813870G>T uc010ihh.2 + 14 2650 c.2477G>T c.(2476-2478)CGT>CTT p.R826L LPHN3_uc003hcq.3_Missense_Mutation_p.R826L|LPHN3_uc003hct.2_Missense_Mutation_p.R219L NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 813 GPS.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 TACTCCAAGCGTACAATGACA 0.383 NA 10 37 7.48243e-07 8.12047e-07 0.006214 1 0 EPHA5 2044 broad.mit.edu 37 4 66231705 66231705 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:66231705T>A uc003hcy.2 - 11 2188 c.1995A>T c.(1993-1995)GAA>GAT p.E665D EPHA5_uc003hcx.2_Missense_Mutation_p.E597D|EPHA5_uc003hcz.2_Missense_Mutation_p.E643D|EPHA5_uc011cah.1_Missense_Mutation_p.E666D|EPHA5_uc011cai.1_Missense_Mutation_p.E644D|EPHA5_uc003hda.2_Missense_Mutation_p.E666D NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 665 Cytoplasmic (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 CCTTAGCAAATTCGTGGACAG 0.358 NA TSP Lung(17;0.13) 35 115 0 0 0.005524 0 0 STAP1 26228 broad.mit.edu 37 4 68441185 68441185 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:68441185T>A uc003hde.3 + 3 357 c.275T>A c.(274-276)CTT>CAT p.L92H STAP1_uc003hdf.2_Missense_Mutation_p.L92H NM_012108 NP_036240 Q9ULZ2 STAP1_HUMAN signal transducing adaptor family member 1 92 PH. cellular membrane fusion|intracellular protein transport cytoplasm 0 AAATTCACCCTTGTTTTGCCG 0.403 NA 10 53 0 0 0.008291 0 0 STAP1 26228 broad.mit.edu 37 4 68459051 68459051 + Missense_Mutation SNP T T C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:68459051T>C uc003hde.3 + 8 885 c.803T>C c.(802-804)ATA>ACA p.I268T STAP1_uc003hdf.2_Missense_Mutation_p.I268T NM_012108 NP_036240 Q9ULZ2 STAP1_HUMAN signal transducing adaptor family member 1 268 SH2. cellular membrane fusion|intracellular protein transport cytoplasm 0 AGACCATTTATATGTTCAACT 0.313 NA 29 102 0 0 0.008361 0 0 TMPRSS11D 9407 broad.mit.edu 37 4 68725387 68725387 + Silent SNP A A T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:68725387A>T uc003hdq.2 - 2 83 c.18T>A c.(16-18)CGT>CGA p.R6R LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc011caj.1_Intron NM_004262 NP_004253 O60235 TM11D_HUMAN transmembrane protease, serine 11D 6 Cytoplasmic (Potential). proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 TCGAAGTTACACGTGCTGGCC 0.408 NA 19 39 0 0 0.008871 0 0 CSN2 1447 broad.mit.edu 37 4 70823296 70823296 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:70823296G>T uc003hes.3 - 5 384 c.371C>A c.(370-372)CCC>CAC p.P124H CSN2_uc003het.3_Missense_Mutation_p.P123H NM_001891 NP_001882 P05814 CASB_HUMAN casein beta precursor 124 calcium ion transport extracellular region calcium ion binding|enzyme inhibitor activity|transporter activity 0 GTCAAAAAAGGGTATCGTTGG 0.478 NA 5 115 1.23904e-05 1.30146e-05 0.000602 1 0 RUFY3 22902 broad.mit.edu 37 4 71654656 71654656 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:71654656G>C uc003hfq.2 + 11 1800 c.1205G>C c.(1204-1206)AGA>ACA p.R402T RUFY3_uc003hfp.3_Missense_Mutation_p.R462T|RUFY3_uc011cax.1_Missense_Mutation_p.R420T|RUFY3_uc003hfr.2_Missense_Mutation_p.R402T|RUFY3_uc011cay.1_Missense_Mutation_p.R338T NM_014961 NP_055776 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 isoform 2 402 Potential. negative regulation of axonogenesis filopodium|growth cone 0 all_hematologic(202;0.248) Lung(101;0.235) GATGACCTCAGAGCTCTCAAG 0.507 NA 6 110 0 0 0.001168 0 0 BMP2K 55589 broad.mit.edu 37 4 79792085 79792085 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:79792085G>C uc003hlk.2 + 11 1546 c.1380G>C c.(1378-1380)CAG>CAC p.Q460H BMP2K_uc010ijl.1_RNA|BMP2K_uc003hlj.2_Missense_Mutation_p.Q460H|BMP2K_uc003hll.2_5'Flank NM_198892 NP_942595 Q9NSY1 BMP2K_HUMAN BMP-2 inducible kinase isoform a 460 Gln/His-rich. nucleus ATP binding|protein serine/threonine kinase activity lung(1) 1 ATCCTCACcagcagcagcagc 0.254 NA 3 123 0 0 0.004672 0 0 WDFY3 23001 broad.mit.edu 37 4 85694065 85694065 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:85694065G>C uc003hpd.2 - 30 5180 c.4772C>G c.(4771-4773)TCT>TGT p.S1591C NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 1591 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CAAAGTAGAAGAAATAAACTG 0.328 NA 3 31 0 0 0.004672 0 0 GRID2 2895 broad.mit.edu 37 4 94032000 94032000 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:94032000C>A uc011cdt.1 + 4 889 c.631C>A c.(631-633)CTC>ATC p.L211I GRID2_uc010ikx.2_Missense_Mutation_p.L211I|GRID2_uc011cdu.1_Missense_Mutation_p.L116I|GRID2_uc011cdv.1_RNA NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 211 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GATTACCACTCTCTTTGACAC 0.418 NA 48 132 3.21987e-24 4.30488e-24 0.00361 1 0 AGXT2L1 64850 broad.mit.edu 37 4 109663766 109663766 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:109663766C>T uc003hzc.2 - 13 1555 c.1374G>A c.(1372-1374)ATG>ATA p.M458I AGXT2L1_uc010imc.2_Missense_Mutation_p.M452I|AGXT2L1_uc011cfm.1_Missense_Mutation_p.M418I|AGXT2L1_uc011cfn.1_Missense_Mutation_p.M385I|AGXT2L1_uc011cfo.1_Missense_Mutation_p.M400I NM_031279 NP_112569 Q8TBG4 AT2L1_HUMAN alanine-glyoxylate aminotransferase 2-like 1 458 cellular amino acid metabolic process mitochondrion alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000281) CTTCTTTCAGCATCTGCAAGA 0.483 NA 28 90 0 0 0.007291 0 0 ALPK1 80216 broad.mit.edu 37 4 113356397 113356397 + Missense_Mutation SNP A A T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:113356397A>T uc003iap.3 + 12 3407 c.3128A>T c.(3127-3129)AAA>ATA p.K1043I ALPK1_uc003ian.3_Missense_Mutation_p.K1043I|ALPK1_uc011cfx.1_Missense_Mutation_p.K965I|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Missense_Mutation_p.K871I NM_025144 NP_079420 Q96QP1 ALPK1_HUMAN alpha-kinase 1 1043 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity ovary(5) 5 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) GTGAAGAAAAAAGGCAGACAA 0.358 NA 72 225 0 0 0.00361 0 0 ANK2 287 broad.mit.edu 37 4 114275772 114275772 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:114275772G>C uc003ibe.3 + 38 6098 c.5998G>C c.(5998-6000)GGT>CGT p.G2000R ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.G2015R NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1967 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TTTCCAGTCAGGTCAGGACCC 0.433 NA 42 119 0 0 0.007835 0 0 ARSJ 79642 broad.mit.edu 37 4 114899972 114899972 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:114899972C>T uc003ibq.1 - 1 907 c.19G>A c.(19-21)GCG>ACG p.A7T ARSJ_uc010imu.1_Missense_Mutation_p.A7T|ARSJ_uc010imv.1_5'UTR NM_024590 NP_078866 Q5FYB0 ARSJ_HUMAN arylsulfatase J precursor 7 extracellular region arylsulfatase activity|metal ion binding ovary(1) 1 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) GGATGCCCCGCACAGCCCCTG 0.662 NA 56 146 0 0 0.00361 0 0 PRDM5 11107 broad.mit.edu 37 4 121828674 121828674 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:121828674C>A uc003idn.2 - 2 382 c.132G>T c.(130-132)ATG>ATT p.M44I PRDM5_uc003ido.2_Missense_Mutation_p.M44I|PRDM5_uc010ine.2_Missense_Mutation_p.M44I|PRDM5_uc010inf.2_Missense_Mutation_p.M44I|PRDM5_uc003idp.1_Missense_Mutation_p.M44I NM_018699 NP_061169 Q9NQX1 PRDM5_HUMAN PR domain containing 5 44 SET. histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 AGTCTTCAGGCATTCTCTTCT 0.323 NA 18 76 1.22574e-08 1.35121e-08 0.002299 1 0 FGF2 2247 broad.mit.edu 37 4 123813428 123813428 + Nonsense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:123813428C>A uc003iev.1 + 3 812 c.744C>A c.(742-744)TAC>TAA p.Y248* NM_002006 NP_001997 P09038 FGF2_HUMAN fibroblast growth factor 2 248 activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing extracellular space fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity ovary(1)|lung(1)|central_nervous_system(1) 3 Pentosan Polysulfate(DB00686) ACAATACTTACCGGTCAAGGA 0.358 NA 19 44 7.45023e-12 8.65074e-12 0.010504 1 0 DCHS2 54798 broad.mit.edu 37 4 155180804 155180804 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:155180804C>A uc003inw.2 - 20 5317 c.5317G>T c.(5317-5319)GTA>TTA p.V1773L NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1773 Cadherin 15. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) AAGACTGCTACTTTGCAATAG 0.398 NA 45 65 3.61183e-13 4.24921e-13 0.00361 1 0 DCHS2 54798 broad.mit.edu 37 4 155241958 155241958 + Silent SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:155241958G>C uc003inw.2 - 14 3228 c.3228C>G c.(3226-3228)GTC>GTG p.V1076V NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1076 Cadherin 9. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TGGCATTGAAGACATACACCA 0.443 NA 10 142 0 0 0.006214 0 0 PLRG1 5356 broad.mit.edu 37 4 155458507 155458507 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:155458507C>T uc003iny.2 - 14 1479 c.1416G>A c.(1414-1416)CAG>CAA p.Q472Q PLRG1_uc003inz.2_Silent_p.Q463Q NM_002669 NP_002660 O43660 PLRG1_HUMAN pleiotropic regulator 1 (PRL1 homolog, 472 WD 7. catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity 0 all_hematologic(180;0.215) Renal(120;0.0854) GACTTTCAGACTGATCAAAAG 0.418 NA 22 56 0 0 0.012319 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160274748 160274748 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:160274748G>C uc003iqg.3 + 22 4028 c.3718G>C c.(3718-3720)GAT>CAT p.D1240H NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 1240 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) CGCGTCACTTGATGCTGCTGA 0.537 NA 14 148 0 0 0.00245 0 0 GALNTL6 442117 broad.mit.edu 37 4 173269725 173269725 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:173269725C>T uc003isv.2 + 5 1174 c.438C>T c.(436-438)ATC>ATT p.I146I NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN N-acetylgalactosaminyltransferase-like 6 146 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|ovary(1)|skin(1) 4 GCATCATTATCCCATTTCATA 0.413 NA 28 96 0 0 0.010818 0 0 HAND2 9464 broad.mit.edu 37 4 174448469 174448469 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:174448469C>A uc003ith.1 - 2 1551 c.613G>T c.(613-615)GGC>TGC p.G205C HAND2_uc003itg.1_Missense_Mutation_p.G170V NM_021973 NP_068808 P61296 HAND2_HUMAN basic helix-loop-helix transcription factor 205 adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development nuclear chromatin|transcription factor complex activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity skin(1) 1 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) TGCGGCCAGCCCGTCCGGCCT 0.502 NA 58 124 4.09171e-25 5.50051e-25 0.00361 1 0 ADAM29 11086 broad.mit.edu 37 4 175898632 175898632 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:175898632C>A uc003iuc.2 + 5 2626 c.1956C>A c.(1954-1956)AAC>AAA p.N652K ADAM29_uc003iud.2_Missense_Mutation_p.N652K|ADAM29_uc010irr.2_Missense_Mutation_p.N652K|ADAM29_uc011cki.1_Missense_Mutation_p.N652K NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 652 EGF-like.|Extracellular (Potential). proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) ACCCTCCCAACTGCCTGATAA 0.423 Ovarian(140;1727 1835 21805 25838 41440) NA 29 40 1.74807e-11 2.01305e-11 0.010818 1 0 ASB5 140458 broad.mit.edu 37 4 177138085 177138085 + Missense_Mutation SNP A A G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:177138085A>G uc003iuq.1 - 6 762 c.746T>C c.(745-747)GTA>GCA p.V249A ASB5_uc003iup.1_Missense_Mutation_p.V196A NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box-containing protein 249 ANK 6. intracellular signal transduction skin(2) 2 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) CAGTAAGTTTACAATTTCTGT 0.408 NA 53 108 0 0 0.00361 0 0 TRIML2 205860 broad.mit.edu 37 4 189012758 189012758 + Silent SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr4:189012758G>C uc003izl.2 - 7 969 c.933C>G c.(931-933)CTC>CTG p.L311L TRIML2_uc003izj.1_Silent_p.L139L|TRIML2_uc003izk.1_Silent_p.L119L|TRIML2_uc011cle.1_Silent_p.L386L NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 311 B30.2/SPRY. ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) TTTCCAGGAAGAGCCTTTTCA 0.532 NA 39 184 0 0 0.00623 0 0 ZDHHC11 79844 broad.mit.edu 37 5 837564 837564 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:837564G>T uc011cma.1 - 6 1200 c.816C>A c.(814-816)CTC>CTA p.L272L ZDHHC11_uc003jbj.2_RNA|ZDHHC11_uc010itd.1_RNA NM_024786 NP_079062 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 272 integral to membrane acyltransferase activity|zinc ion binding skin(1)|pancreas(1) 2 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GGTTATTAATGAGATACTCAA 0.493 NA 5 196 2.7689e-08 3.04547e-08 0.001984 1 0 SLC6A18 348932 broad.mit.edu 37 5 1243781 1243781 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:1243781C>A uc003jby.1 + 9 1366 c.1243C>A c.(1243-1245)CTA>ATA p.L415I NM_182632 NP_872438 Q96N87 S6A18_HUMAN solute carrier family 6, member 18 415 Helical; Name=8; (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(1) 1 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CACCTTGGGGCTATCGACCAT 0.657 NA 31 95 2.08457e-15 2.53459e-15 0.010818 1 0 CLPTM1L 81037 broad.mit.edu 37 5 1318514 1318514 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:1318514C>G uc003jch.2 - 17 1633 c.1587G>C c.(1585-1587)GAG>GAC p.E529D CLPTM1L_uc003jcg.2_Missense_Mutation_p.E360D NM_030782 NP_110409 Q96KA5 CLP1L_HUMAN CLPTM1-like 529 Cytoplasmic (Potential). apoptosis integral to membrane breast(1)|central_nervous_system(1) 2 Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09) Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181) KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208) GCGTGGCCTTCTCCTCGTAGG 0.557 NA 20 121 0 0 0.012319 0 0 ADCY2 108 broad.mit.edu 37 5 7743826 7743826 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:7743826G>T uc003jdz.1 + 15 1984 c.1917G>T c.(1915-1917)CTG>CTT p.L639L ADCY2_uc011cmo.1_Silent_p.L459L NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 639 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 TTCTCTTGCTGGCCTTCATCC 0.483 NA 136 365 3.67666e-70 5.77424e-70 0.00361 1 0 MARCH11 441061 broad.mit.edu 37 5 16067857 16067857 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:16067857C>T uc003jfo.2 - 4 1145 c.932G>A c.(931-933)CGC>CAC p.R311H MARCH11_uc010itw.1_Missense_Mutation_p.R67H NM_001102562 NP_001096032 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 311 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding 0 AGCTCGCCAGCGCTTAAACAC 0.428 NA 43 47 0 0 0.011902 0 0 FAM134B 54463 broad.mit.edu 37 5 16477889 16477889 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:16477889G>A uc003jfs.2 - 8 920 c.882C>T c.(880-882)CTC>CTT p.L294L FAM134B_uc003jfr.2_Silent_p.L153L NM_001034850 NP_001030022 Q9H6L5 F134B_HUMAN hypothetical protein LOC54463 isoform 1 294 sensory perception of pain cis-Golgi network|endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 CAGCAACCGTGAGGCTAATCT 0.413 NA 4 123 0 0 0.009096 0 0 GOLPH3 64083 broad.mit.edu 37 5 32126342 32126342 + Silent SNP C C A rs147714399 TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:32126342C>A uc003jhp.1 - 4 1158 c.873G>T c.(871-873)GCG>GCT p.A291A NM_022130 NP_071413 Q9H4A6 GOLP3_HUMAN golgi phosphoprotein 3 291 cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network protein binding ovary(1) 1 CCGCCACCACCGCCCACAGAA 0.498 NA 75 187 6.09464e-36 8.82237e-36 0.00361 1 0 SLC1A3 6507 broad.mit.edu 37 5 36677035 36677035 + Silent SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:36677035C>A uc003jkj.3 + 6 1085 c.609C>A c.(607-609)ATC>ATA p.I203I SLC1A3_uc011cox.1_Silent_p.I96I|SLC1A3_uc010iuy.2_Silent_p.I203I NM_004172 NP_004163 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity 203 Extracellular (Potential). D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity 0 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) AAGTGCCCATCCAGGCCAACG 0.368 NA 13 52 7.93312e-07 8.58108e-07 0.00245 1 0 NIPBL 25836 broad.mit.edu 37 5 36985082 36985082 + Silent SNP T T C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:36985082T>C uc003jkl.3 + 10 2299 c.1800T>C c.(1798-1800)CCT>CCC p.P600P NIPBL_uc003jkk.3_Silent_p.P600P|NIPBL_uc003jkm.1_Silent_p.P479P NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 600 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CTGAGACACCTAAAAAAAAGT 0.358 NA 3 97 0 0 0.004672 0 0 RICTOR 253260 broad.mit.edu 37 5 38967476 38967476 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:38967476C>T uc003jlp.2 - 13 1138 c.1114G>A c.(1114-1116)GAG>AAG p.E372K RICTOR_uc003jlo.2_Missense_Mutation_p.E372K|RICTOR_uc010ivf.2_Missense_Mutation_p.E87K NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 372 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) GTTTTTGCCTCAGCTGCCACA 0.368 NA 15 110 0 0 0.003163 0 0 ITGA1 3672 broad.mit.edu 37 5 52206177 52206177 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:52206177G>T uc003jou.2 + 14 1837 c.1785G>T c.(1783-1785)CTG>CTT p.L595L ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Silent_p.L126L NM_181501 NP_852478 P56199 ITA1_HUMAN integrin, alpha 1 precursor 595 Extracellular (Potential).|FG-GAP 6. axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity ovary(2)|lung(1) 3 Lung NSC(810;5.05e-05)|Breast(144;0.0851) GAGCTCCGCTGGAAGATGATC 0.438 NA 20 39 1.96292e-10 2.23682e-10 0.010504 1 0 ESM1 11082 broad.mit.edu 37 5 54281066 54281066 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:54281066C>T uc003jpk.2 - 1 349 c.280G>A c.(280-282)GAA>AAA p.E94K ESM1_uc010ivt.2_Missense_Mutation_p.E94K NM_007036 NP_008967 Q9NQ30 ESM1_HUMAN endothelial cell-specific molecule 1 isoform a 94 IGFBP N-terminal. angiogenesis|regulation of cell growth extracellular region growth factor activity|insulin-like growth factor binding 0 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116) Lung(15;0.23) CCAAACTCTTCACCAAAAGGA 0.562 NA 87 147 0 0 0.00361 0 0 DDX4 54514 broad.mit.edu 37 5 55077767 55077767 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:55077767G>A uc003jqg.3 + 10 657 c.583G>A c.(583-585)GGT>AGT p.G195S DDX4_uc010ivz.2_Missense_Mutation_p.G175S|DDX4_uc003jqh.3_Missense_Mutation_p.G161S|DDX4_uc003jqj.2_Missense_Mutation_p.G62S NM_001136034 NP_001129506 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform 195 Gly-rich. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|skin(1) 2 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) TACAGGTAATGGTGATACTTC 0.338 NA 14 41 0 0 0.003163 0 0 ANKRD55 79722 broad.mit.edu 37 5 55407601 55407601 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:55407601G>T uc003jqu.2 - 10 1126 c.974C>A c.(973-975)CCT>CAT p.P325H ANKRD55_uc003jqt.2_Missense_Mutation_p.P37H NM_024669 NP_078945 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 isoform 1 324 ANK 9. skin(1) 1 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) GGGTCGAGTAGGCTCTGTTCT 0.488 NA 48 98 7.05377e-20 9.0009e-20 0.00361 1 0 CWC27 10283 broad.mit.edu 37 5 64081337 64081337 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:64081337G>T uc003jtn.1 + 5 645 c.426G>T c.(424-426)TTG>TTT p.L142F CWC27_uc003jtl.2_Missense_Mutation_p.L142F|CWC27_uc003jtm.2_Missense_Mutation_p.L142F|CWC27_uc010iwt.1_Missense_Mutation_p.L142F NM_005869 NP_005860 Q6UX04 CWC27_HUMAN serologically defined colon cancer antigen 10 142 PPIase cyclophilin-type. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity 0 ATAACATGTTGCGACTGTCAG 0.333 NA 43 141 4.44401e-20 5.68555e-20 0.010771 1 0 ADAMTS6 11174 broad.mit.edu 37 5 64492968 64492968 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:64492968T>A uc003jtp.2 - 21 3400 c.2586A>T c.(2584-2586)AGA>AGT p.R862S ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 862 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) CCACCTCCTGTCTTTGGACAC 0.423 NA 28 47 0 0 0.009535 0 0 TAF9 6880 broad.mit.edu 37 5 68660800 68660800 + Silent SNP A A G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:68660800A>G uc003jwc.1 - 2 1097 c.765T>C c.(763-765)GAT>GAC p.D255D TAF9_uc003jwa.2_Intron|TAF9_uc003jwb.2_Intron|TAF9_uc003jwd.1_Silent_p.D255D|TAF9_uc003jwe.1_Silent_p.D255D|TAF9_uc003jwf.1_Silent_p.D255D NM_003187 NP_003178 Q16594 TAF9_HUMAN TAF9 RNA polymerase II, TATA box binding 255 Poly-Asp. histone H3 acetylation|negative regulation of apoptosis|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of cell growth|positive regulation of response to cytokine stimulus|positive regulation of transcription from RNA polymerase II promoter|response to interleukin-1|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction MLL1 complex|PCAF complex|pre-snoRNP complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex activating transcription factor binding|C2H2 zinc finger domain binding|p53 binding|transcription coactivator activity|transcription regulatory region DNA binding 0 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176) catcatcatcatcgtcatcat 0.244 NA 4 122 0 0 0.009096 0 0 UTP15 84135 broad.mit.edu 37 5 72874903 72874903 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:72874903G>C uc003kcw.1 + 11 1431 c.1208G>C c.(1207-1209)AGA>ACA p.R403T UTP15_uc011cso.1_Missense_Mutation_p.R384T|UTP15_uc011csp.1_Missense_Mutation_p.R213T|UTP15_uc010ize.1_Missense_Mutation_p.R403T NM_032175 NP_115551 Q8TED0 UTP15_HUMAN UTP15, U3 small nucleolar ribonucleoprotein, 403 rRNA processing cytoplasm|nucleolus 0 Lung NSC(167;0.00405)|Ovarian(174;0.0129) OV - Ovarian serous cystadenocarcinoma(47;7.76e-55) TTAAATCGAAGAGGAGTCCTT 0.378 NA 4 60 0 0 0.000602 0 0 AP3B1 8546 broad.mit.edu 37 5 77523357 77523357 + Splice_Site SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:77523357C>A uc003kfj.2 - 5 501 c.376_splice c.e5-1 p.D126_splice NM_003664 NP_003655 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity central_nervous_system(1) 1 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) GGTTTGGGTCCTAAAAATAGT 0.333 NA Hermansky-Pudlak_syndrome 20 43 4.96729e-08 5.44513e-08 0.008871 1 0 HAPLN1 1404 broad.mit.edu 37 5 82940454 82940454 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:82940454C>T uc003kim.2 - 3 574 c.503G>A c.(502-504)GGG>GAG p.G168E HAPLN1_uc003kin.2_Missense_Mutation_p.G168E NM_001884 NP_001875 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 168 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding large_intestine(3)|ovary(1)|skin(1) 5 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) ATTGTAGCGCCCCAGTCGTGG 0.552 NA 17 28 0 0 0.006122 0 0 GPR98 84059 broad.mit.edu 37 5 90281197 90281197 + Nonsense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:90281197G>T uc003kju.2 + 85 18106 c.18010G>T c.(18010-18012)GAG>TAG p.E6004* GPR98_uc003kjt.2_Nonsense_Mutation_p.E3710*|GPR98_uc003kjw.2_Nonsense_Mutation_p.E1665*|GPR98_uc003kjx.2_Nonsense_Mutation_p.E32* NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 6004 Cytoplasmic (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GATGAATGATGAGCACACAGA 0.403 NA 13 37 9.31168e-06 9.82287e-06 0.001855 1 0 KCNN2 3781 broad.mit.edu 37 5 113740334 113740334 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:113740334C>A uc003kqo.2 + 3 1239 c.782C>A c.(781-783)CCA>CAA p.P261Q NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 261 Helical; Name=Segment S4; (Potential). integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) TTATCTATACCAATGTTCTTA 0.428 NA 38 155 4.14481e-20 5.30969e-20 0.00623 1 0 DTWD2 285605 broad.mit.edu 37 5 118183839 118183839 + Silent SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:118183839C>A uc003ksa.2 - 5 706 c.672G>T c.(670-672)CTG>CTT p.L224L NM_173666 NP_775937 Q8NBA8 DTWD2_HUMAN DTW domain containing 2 224 0 all_epithelial(76;0.0982)|Prostate(80;0.121) OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939) CTGCACACTCCAGTGTAGAAA 0.353 NA 26 56 1.26454e-06 1.36481e-06 0.005443 1 0 FTMT 94033 broad.mit.edu 37 5 121188292 121188292 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:121188292G>T uc003kss.2 + 1 643 c.634G>T c.(634-636)GTG>TTG p.V212L NM_177478 NP_803431 Q8N4E7 FTMT_HUMAN ferritin mitochondrial precursor 212 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity ovary(1) 1 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) AGGTGACCACGTGCACAACTT 0.498 NA 78 177 1.88935e-48 2.83983e-48 0.00361 1 0 LMNB1 4001 broad.mit.edu 37 5 126158531 126158531 + Missense_Mutation SNP A A T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:126158531A>T uc003kud.1 + 8 1813 c.1445A>T c.(1444-1446)TAT>TTT p.Y482F LMNB1_uc010jdb.1_RNA|LMNB1_uc011cxb.1_Missense_Mutation_p.Y272F NM_005573 NP_005564 P20700 LMNB1_HUMAN lamin B1 482 Tail. cellular component disassembly involved in apoptosis lamin filament|nuclear inner membrane protein binding|structural molecule activity kidney(1)|central_nervous_system(1) 2 all_cancers(142;0.103)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903) TCAGTCAGTTATAAATATACC 0.388 NA 17 16 0 0 0.007413 0 0 FBN2 2201 broad.mit.edu 37 5 127614386 127614386 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:127614386C>A uc003kuu.2 - 57 7725 c.7286G>T c.(7285-7287)GGA>GTA p.G2429V NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 2429 TB 9. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CTGGGCAGTTCCAGGAAGTGG 0.473 NA 36 110 4.17593e-13 4.9011e-13 0.007835 1 0 SLC27A6 28965 broad.mit.edu 37 5 128362826 128362826 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:128362826G>T uc003kuy.2 + 8 1652 c.1256G>T c.(1255-1257)GGA>GTA p.G419V SLC27A6_uc003kuz.2_Missense_Mutation_p.G419V NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 419 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding 0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TTTCTTGCAGGAGAACCTGGA 0.388 NA 18 55 2.35188e-11 2.70522e-11 0.006122 1 0 RAD50 10111 broad.mit.edu 37 5 131923747 131923747 + Silent SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:131923747C>A uc003kxi.2 + 7 1404 c.1017C>A c.(1015-1017)CTC>CTA p.L339L RAD50_uc003kxh.2_Silent_p.L200L NM_005732 NP_005723 Q92878 RAD50_HUMAN RAD50 homolog isoform 1 339 Potential. DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding lung(2)|ovary(1)|skin(1) 4 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTAGGCTTCTCAATCAGGAAA 0.338 NA Homologous_recombination 21 55 1.87028e-06 1.99877e-06 0.012319 1 0 PCBD2 84105 broad.mit.edu 37 5 134246156 134246156 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:134246156G>T uc010jdz.2 + 2 236 c.216G>T c.(214-216)CAG>CAT p.Q72H PCBD2_uc011cxw.1_Missense_Mutation_p.Q72H NM_032151 NP_115527 Q9H0N5 PHS2_HUMAN pterin-4 alpha-carbinolamine dehydratase 2 72 positive regulation of transcription, DNA-dependent|tetrahydrobiopterin biosynthetic process 4-alpha-hydroxytetrahydrobiopterin dehydratase activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ATTTTAATCAGGTAATTGTTA 0.403 NA 23 50 4.47668e-21 5.78779e-21 0.003954 1 0 IL9 3578 broad.mit.edu 37 5 135231470 135231470 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:135231470G>A uc003lbb.1 - 1 47 c.36C>T c.(34-36)CTC>CTT p.L12L NM_000590 NP_000581 P15248 IL9_HUMAN interleukin 9 precursor 12 immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process extracellular space cytokine activity|cytokine receptor binding|growth factor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CGGAGCACAGGAGCAGGGCAG 0.572 NA 18 71 0 0 0.010504 0 0 TRPC7 57113 broad.mit.edu 37 5 135692704 135692704 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:135692704G>T uc003lbn.1 - 1 372 c.369C>A c.(367-369)GCC>GCA p.A123A TRPC7_uc010jef.1_Silent_p.A115A|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.A115A|TRPC7_uc010jei.1_Silent_p.A115A|TRPC7_uc010jej.1_5'UTR NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, 124 Cytoplasmic (Potential).|ANK 3. axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGTTGAGGATGGCCTCCACGA 0.657 NA 43 68 1.32136e-16 1.62884e-16 0.00874 1 0 PKD2L2 27039 broad.mit.edu 37 5 137243525 137243525 + Missense_Mutation SNP A A G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:137243525A>G uc003lby.2 + 7 1126 c.1070A>G c.(1069-1071)GAT>GGT p.D357G PKD2L2_uc003lbw.1_Missense_Mutation_p.D357G|PKD2L2_uc003lbx.2_Missense_Mutation_p.D357G|PKD2L2_uc011cyi.1_5'UTR NM_014386 NP_055201 Q9NZM6 PK2L2_HUMAN polycystic kidney disease 2-like 2 357 Extracellular (Potential). integral to membrane calcium ion binding|ion channel activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AAATATTCAGATTTCTATTTT 0.274 NA 15 35 0 0 0.00245 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229520 140229520 + Silent SNP G G A rs146628059 TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:140229520G>A uc003lhu.2 + 1 2164 c.1440G>A c.(1438-1440)CGG>CGA p.R480R 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_uc003lht.1_Silent_p.R480R NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 480 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCTGCGCGGGACGCTGACG 0.652 Melanoma(55;1800 1972 14909) NA 56 157 0 0 0.00361 0 0 PCDHB10 56126 broad.mit.edu 37 5 140572234 140572234 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:140572234G>A uc003lix.2 + 1 283 c.109G>A c.(109-111)GAG>AAG p.E37K NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 37 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCGGTGACTGAGGAAACAGA 0.507 NA 65 120 0 0 0.00361 0 0 SLC25A2 83884 broad.mit.edu 37 5 140683154 140683154 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:140683154C>G uc003ljf.2 - 1 459 c.279G>C c.(277-279)AGG>AGC p.R93S NM_031947 NP_114153 Q9BXI2 ORNT2_HUMAN solute carrier family 25 member 2 93 mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity ovary(1) 1 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) CAGCCACTTTCCTGACAAACT 0.597 NA 3 132 0 0 0.004672 0 0 SLC25A2 83884 broad.mit.edu 37 5 140683179 140683179 + Missense_Mutation SNP T T C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:140683179T>C uc003ljf.2 - 1 434 c.254A>G c.(253-255)TAC>TGC p.Y85C NM_031947 NP_114153 Q9BXI2 ORNT2_HUMAN solute carrier family 25 member 2 85 Helical; Name=2; (Potential).|Solcar 1. mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity ovary(1) 1 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) GCAGAACCCGTAGCACATGAA 0.592 NA 11 114 0 0 0.010729 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140723888 140723888 + Nonsense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:140723888C>A uc003ljm.1 + 1 288 c.288C>A c.(286-288)TGC>TGA p.C96* PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Nonsense_Mutation_p.C96* NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 96 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGAGCTCTGCGCTCAGATCC 0.448 NA 36 74 4.65686e-17 5.78419e-17 0.003755 1 0 PCDHGB1 56104 broad.mit.edu 37 5 140731136 140731136 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:140731136C>A uc003ljo.1 + 1 1309 c.1309C>A c.(1309-1311)CAC>AAC p.H437N PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.H437N NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 437 Extracellular (Potential).|Cadherin 4. 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) CATCACCCTGCACATCTCCGA 0.547 NA 17 52 1.40151e-16 1.72331e-16 0.010504 1 0 PCDH1 5097 broad.mit.edu 37 5 141244125 141244125 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:141244125T>A uc003llq.2 - 3 1888 c.1771A>T c.(1771-1773)AGC>TGC p.S591C PCDH1_uc003llp.2_Missense_Mutation_p.S591C|PCDH1_uc011dbf.1_Missense_Mutation_p.S569C NM_002587 NP_002578 Q08174 PCDH1_HUMAN protocadherin 1 isoform 1 precursor 591 Extracellular (Potential).|Cadherin 5. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) CCCTGGAGGCTAGGACTGCCC 0.542 Ovarian(132;1609 1739 4190 14731 45037) NA 10 85 0 0 0.006214 0 0 LARS 51520 broad.mit.edu 37 5 145552329 145552329 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:145552329T>A uc003lnx.1 - 3 372 c.134A>T c.(133-135)AAG>ATG p.K45M LARS_uc011dbq.1_Missense_Mutation_p.K45M|LARS_uc011dbr.1_Translation_Start_Site|LARS_uc011dbs.1_Missense_Mutation_p.K45M NM_020117 NP_064502 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 45 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) TACAAAATACTTGCCCTTGCT 0.358 NA 8 37 0 0 0.006214 0 0 FAT2 2196 broad.mit.edu 37 5 150914137 150914137 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:150914137G>A uc003lue.3 - 12 9273 c.9260C>T c.(9259-9261)GCG>GTG p.A3087V GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_5'Flank NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 3087 Extracellular (Potential).|Cadherin 27. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCATCCGTCGCCTTGGCAAC 0.562 NA 66 78 0 0 0.00361 0 0 GABRA1 2554 broad.mit.edu 37 5 161318005 161318005 + Nonsense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:161318005C>T uc010jiw.2 + 9 1273 c.805C>T c.(805-807)CAA>TAA p.Q269* GABRA1_uc010jix.2_Nonsense_Mutation_p.Q269*|GABRA1_uc010jiy.2_Nonsense_Mutation_p.Q269*|GABRA1_uc003lyx.3_Nonsense_Mutation_p.Q269*|GABRA1_uc010jiz.2_Nonsense_Mutation_p.Q269*|GABRA1_uc010jja.2_Nonsense_Mutation_p.Q269*|GABRA1_uc010jjb.2_Nonsense_Mutation_p.Q269* NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 269 Helical; (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) GATTCTCTCACAAGTCTCCTT 0.408 NA 42 80 0 0 0.009718 0 0 GABRG2 2566 broad.mit.edu 37 5 161569232 161569232 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:161569232C>A uc003lyz.3 + 7 1190 c.832C>A c.(832-834)CAG>AAG p.Q278K GABRG2_uc010jjc.2_Missense_Mutation_p.Q318K|GABRG2_uc003lyy.3_Missense_Mutation_p.Q278K|GABRG2_uc011dej.1_Missense_Mutation_p.Q183K NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 278 Helical; (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) CTTTACCATCCAGACCTATAT 0.443 NA 36 134 4.46736e-08 4.90259e-08 0.005524 1 0 GABRG2 2566 broad.mit.edu 37 5 161580209 161580209 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:161580209C>A uc003lyz.3 + 9 1597 c.1239C>A c.(1237-1239)GAC>GAA p.D413E GABRG2_uc010jjc.2_Missense_Mutation_p.D461E|GABRG2_uc003lyy.3_Missense_Mutation_p.D421E|GABRG2_uc011dej.1_Missense_Mutation_p.D318E NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 413 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) ACGGCAAGGACTGTGCCAGTT 0.458 NA 49 93 5.34276e-22 6.9812e-22 0.00361 1 0 WWC1 23286 broad.mit.edu 37 5 167891839 167891839 + Nonsense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:167891839G>T uc003lzu.2 + 21 3115 c.3022G>T c.(3022-3024)GAG>TAG p.E1008* WWC1_uc003lzv.2_Nonsense_Mutation_p.E1014*|WWC1_uc011den.1_Nonsense_Mutation_p.E1014*|WWC1_uc003lzw.2_Nonsense_Mutation_p.E807*|WWC1_uc010jjf.1_Nonsense_Mutation_p.E280* NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 isoform 3 1008 Potential.|Interaction with histone H3. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity ovary(2)|skin(2)|breast(1) 5 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) ATTGACCCAGGAGATCTCGGT 0.607 NA 44 95 2.68985e-26 3.65104e-26 0.00361 1 0 NKX2-5 1482 broad.mit.edu 37 5 172660066 172660066 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:172660066G>T uc003mcm.1 - 2 657 c.481C>A c.(481-483)CGG>AGG p.R161R NKX2-5_uc011dfe.1_3'UTR|NKX2-5_uc010jjt.1_3'UTR NM_004387 NP_004378 P52952 NKX25_HUMAN NK2 transcription factor related, locus 5 161 Homeobox. R -> P (in CHNG5; exhibits a significant functional impairment with reduction of transactivation properties and dominant- negative effect which was associated with reduced DNA binding). adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding central_nervous_system(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GACAGGTACCGCTGCTGCTTG 0.672 Esophageal Squamous(72;810 1219 2387 13420 44943) NA 11 13 7.03913e-09 7.79474e-09 0.001368 1 0 EIF4E1B 253314 broad.mit.edu 37 5 176070154 176070154 + Silent SNP G G T rs143370383 by1000genomes TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:176070154G>T uc010jkf.1 + 4 671 c.87G>T c.(85-87)ACG>ACT p.T29T NM_001099408 NP_001092878 A6NMX2 I4E1B_HUMAN eukaryotic translation initiation factor 4E 29 regulation of translation cytoplasm|mRNA cap binding complex translation initiation factor activity 0 all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGAGAGGACGCCCACAGGAG 0.507 NA 28 56 7.41945e-09 8.20662e-09 0.005443 1 0 GRM6 2916 broad.mit.edu 37 5 178416024 178416024 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:178416024G>T uc003mjr.2 - 6 1445 c.1266C>A c.(1264-1266)CTC>CTA p.L422L GRM6_uc010jla.1_Silent_p.L5L|GRM6_uc003mjs.1_Silent_p.L42L NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 422 Extracellular (Potential). detection of visible light|visual perception integral to plasma membrane lung(4)|ovary(2)|breast(1)|pancreas(1) 8 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GCCCAGGGCAGAGCGCCTGGT 0.627 NA 12 35 1.36491e-13 1.61158e-13 0.001855 1 0 CANX 821 broad.mit.edu 37 5 179143205 179143205 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:179143205G>A uc003mkk.2 + 8 998 c.821G>A c.(820-822)CGT>CAT p.R274H CANX_uc011dgp.1_Missense_Mutation_p.R309H|CANX_uc010jlb.1_Missense_Mutation_p.R210H|CANX_uc003mkl.2_Missense_Mutation_p.R274H|CANX_uc011dgq.1_Missense_Mutation_p.R166H NM_001746 NP_001737 P27824 CALX_HUMAN calnexin precursor 274 Lumenal (Potential). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding 0 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) AATCCTTCACGTGAAATTGAG 0.448 NA 7 102 0 0 0.001984 0 0 SERPINB9 5272 broad.mit.edu 37 6 2892192 2892192 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:2892192G>C uc003mug.2 - 6 719 c.598C>G c.(598-600)CAG>GAG p.Q200E uc003mue.2_Intron|SERPINB9_uc003muf.2_Missense_Mutation_p.Q3E NM_004155 NP_004146 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B, member 9 200 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity 0 Ovarian(93;0.0412) all_hematologic(90;0.108) GTGGCCTCCTGATACATCATC 0.567 NA 32 163 0 0 0.003755 0 0 KIF13A 63971 broad.mit.edu 37 6 17764912 17764912 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:17764912G>C uc003ncg.3 - 39 4952 c.4847C>G c.(4846-4848)TCT>TGT p.S1616C KIF13A_uc003ncf.2_Missense_Mutation_p.S1568C|KIF13A_uc003nch.3_Missense_Mutation_p.S1581C|KIF13A_uc003nci.3_Missense_Mutation_p.S1568C|KIF13A_uc003nce.1_Missense_Mutation_p.S167C NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 1616 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) GCTGTCACTAGAAGGGACCAC 0.547 NA 7 50 0 0 0.001984 0 0 SLC17A3 10786 broad.mit.edu 37 6 25862648 25862648 + Missense_Mutation SNP T T C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:25862648T>C uc003nfi.3 - 3 226 c.116A>G c.(115-117)TAT>TGT p.Y39C SLC17A3_uc003nfk.3_Missense_Mutation_p.Y39C|SLC17A3_uc011djz.1_Missense_Mutation_p.Y39C|SLC17A3_uc011dka.1_Missense_Mutation_p.Y39C NM_006632 NP_006623 O00476 NPT4_HUMAN solute carrier family 17 (sodium phosphate), 39 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity 0 GGCTATTCCATAGCGAGCAGA 0.353 NA 85 68 0 0 0.00361 0 0 HIST1H4F 8361 broad.mit.edu 37 6 26240785 26240785 + Silent SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:26240785G>C uc003nhe.1 + 1 132 c.132G>C c.(130-132)GTG>GTC p.V44V NM_003540 NP_003531 P62805 H4_HUMAN histone cluster 1, H4f 44 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) GCGGCGGCGTGAAACGCATTT 0.597 NA 6 88 0 0 0.001168 0 0 BTN2A2 10385 broad.mit.edu 37 6 26388325 26388325 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:26388325C>T uc003nhq.2 + 4 613 c.527C>T c.(526-528)CCA>CTA p.P176L BTN2A2_uc011dkf.1_Missense_Mutation_p.P60L|BTN2A2_uc011dkg.1_Intron|BTN2A2_uc003nhr.2_Missense_Mutation_p.P60L|BTN2A2_uc011dkh.1_Intron|BTN2A2_uc003nhs.2_Missense_Mutation_p.P176L|BTN2A2_uc003nht.2_Missense_Mutation_p.P176L|BTN2A2_uc011dki.1_5'Flank NM_006995 NP_008926 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 isoform a 176 Extracellular (Potential).|Ig-like C2-type. negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane 0 GGGTGGTACCCAGAGCCCCTC 0.587 NA 51 74 0 0 0.00361 0 0 DHX16 8449 broad.mit.edu 37 6 30640537 30640537 + Missense_Mutation SNP G G C rs148435034 TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:30640537G>C uc003nqz.2 - 1 294 c.82C>G c.(82-84)CAG>GAG p.Q28E DHX16_uc011dmo.1_Intron NM_003587 NP_003578 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 28 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity ovary(2)|kidney(2) 4 ATCAGAAACTGGGCGACGTGC 0.672 NA 29 68 0 0 0.00632 0 0 C6orf27 80737 broad.mit.edu 37 6 31743834 31743834 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:31743834C>T uc011dog.1 - 3 658 c.420G>A c.(418-420)CTG>CTA p.L140L C6orf27_uc003nxd.2_Intron|C6orf27_uc011doh.1_RNA NM_025258 NP_079534 Q9Y334 G7C_HUMAN G7c protein precursor 140 extracellular region ovary(3) 3 GAGCCCCTACCAGGCGCGCGC 0.657 NA 26 189 0 0 0.003954 0 0 SLC44A4 80736 broad.mit.edu 37 6 31836986 31836986 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:31836986G>A uc010jti.2 - 13 1245 c.1179C>T c.(1177-1179)AAC>AAT p.N393N NM_025257 NP_079533 Q53GD3 CTL4_HUMAN choline transporter-like protein 4 393 Extracellular (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 Choline(DB00122) GGGAGCTGATGTTGGATGCCC 0.567 NA 43 54 0 0 0.011902 0 0 NOTCH4 4855 broad.mit.edu 37 6 32166826 32166826 + Missense_Mutation SNP A A G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:32166826A>G uc003obb.2 - 24 4551 c.4412T>C c.(4411-4413)ATC>ACC p.I1471T NOTCH4_uc011dpt.1_5'Flank|NOTCH4_uc003oba.2_Missense_Mutation_p.I134T|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc011dpw.1_5'Flank NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1471 Cytoplasmic (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 TCGACGCCGGATGAGCTGGAG 0.622 NA 44 93 0 0 0.007835 0 0 TAP2 6891 broad.mit.edu 37 6 32803116 32803116 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:32803116T>A uc003occ.2 - 4 791 c.760A>T c.(760-762)AGC>TGC p.S254C TAP2_uc011dqf.1_Missense_Mutation_p.S254C|TAP2_uc003ocb.1_Missense_Mutation_p.S254C|TAP2_uc003ocd.2_Missense_Mutation_p.S254C NM_018833 NP_061313 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family 254 Cytoplasmic (Potential).|ABC transmembrane type-1. antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding 0 GTATCCGAGCTCAGCCGTGAG 0.542 NA 51 63 0 0 0.00361 0 0 PGC 5225 broad.mit.edu 37 6 41712451 41712451 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:41712451C>G uc003ora.1 - 2 204 c.155G>C c.(154-156)TGG>TCG p.W52S NM_002630 NP_002621 P20142 PEPC_HUMAN progastricsin (pepsinogen C) precursor 52 W -> S (in Ref. 9; AA sequence). digestion|proteolysis extracellular space aspartic-type endopeptidase activity 0 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) GCGGTACTTCCAAGCAGGATC 0.542 NA 8 58 0 0 0.00308 0 0 PTCRA 171558 broad.mit.edu 37 6 42890948 42890948 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:42890948C>A uc003osx.2 + 2 323 c.242C>A c.(241-243)GCA>GAA p.A81E PTCRA_uc011duz.1_Missense_Mutation_p.Q92K|PTCRA_uc010jxx.1_Missense_Mutation_p.Q42K|PTCRA_uc010jxy.2_Missense_Mutation_p.A56E|PTCRA_uc010jxz.2_Intron NM_138296 NP_612153 Q6ISU1 PTCRA_HUMAN pre T-cell antigen receptor alpha precursor 81 Extracellular (Potential). integral to membrane receptor activity ovary(2) 2 Colorectal(47;0.196) all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388) CCTTCCCCAGCAACGGATGGC 0.622 NA 76 139 1.24833e-42 1.86205e-42 0.00361 1 0 SLC22A7 10864 broad.mit.edu 37 6 43266202 43266202 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:43266202C>T uc003out.2 + 1 205 c.106C>T c.(106-108)CTC>TTC p.L36F SLC22A7_uc010jyl.1_Missense_Mutation_p.L36F|SLC22A7_uc003ous.2_Missense_Mutation_p.L36F NM_153320 NP_696961 Q9Y694 S22A7_HUMAN solute carrier family 22 member 7 isoform b 36 Helical; (Potential). basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity 0 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) ACTGCACTTCCTCCTGCCCAT 0.652 NA 41 96 0 0 0.009718 0 0 OPN5 221391 broad.mit.edu 37 6 47763229 47763229 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:47763229C>A uc003ozc.2 + 4 691 c.686C>A c.(685-687)TCT>TAT p.S229Y OPN5_uc003ozd.2_Missense_Mutation_p.S64Y NM_181744 NP_859528 Q6U736 OPN5_HUMAN opsin 5 isoform 1 229 Cytoplasmic (Potential). phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity ovary(1) 1 GTTAAGTCCTCTTCCAAAGAA 0.448 Melanoma(28;740 973 10870 42660 45347) NA 48 95 3.05275e-18 3.81593e-18 0.013114 1 0 CRISP2 7180 broad.mit.edu 37 6 49676878 49676878 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:49676878G>C uc003ozq.2 - 4 288 c.32C>G c.(31-33)ACT>AGT p.T11S CRISP2_uc003ozl.2_Missense_Mutation_p.T11S|CRISP2_uc003ozn.2_Missense_Mutation_p.T11S|CRISP2_uc003ozr.2_Missense_Mutation_p.T11S|CRISP2_uc003ozo.2_Missense_Mutation_p.T11S|CRISP2_uc003ozm.2_Missense_Mutation_p.T11S|CRISP2_uc003ozp.2_Missense_Mutation_p.T11S NM_001142408 NP_001135880 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 precursor 11 extracellular space skin(1) 1 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) AAGCAGCACAGTAACCAGAAA 0.388 NA 41 89 0 0 0.006999 0 0 CRISP3 10321 broad.mit.edu 37 6 49700930 49700930 + Missense_Mutation SNP A A T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:49700930A>T uc003ozs.2 - 6 514 c.499T>A c.(499-501)TAT>AAT p.Y167N NM_006061 NP_006052 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 precursor 167 innate immune response proteinaceous extracellular matrix|specific granule skin(2) 2 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) TGGCAAACATAGTAGTATTTT 0.294 NA 70 112 0 0 0.00361 0 0 TFAP2D 83741 broad.mit.edu 37 6 50683176 50683176 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:50683176G>A uc003paf.2 + 2 899 c.387G>A c.(385-387)GAG>GAA p.E129E TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 129 DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) GCCTGGACGAGCAGAGGCGGG 0.602 NA 38 194 0 0 0.00874 0 0 PKHD1 5314 broad.mit.edu 37 6 51612726 51612726 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:51612726C>G uc003pah.1 - 58 9964 c.9688G>C c.(9688-9690)GAT>CAT p.D3230H PKHD1_uc010jzn.1_Missense_Mutation_p.D1213H|PKHD1_uc003pai.2_Missense_Mutation_p.D3230H NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3230 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) GGAGCTCTATCTGTTGATGTC 0.488 NA 7 182 0 0 0.004482 0 0 HCRTR2 3062 broad.mit.edu 37 6 55142300 55142300 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:55142300G>C uc003pcl.2 + 5 1200 c.885G>C c.(883-885)CAG>CAC p.Q295H HCRTR2_uc010jzv.2_RNA NM_001526 NP_001517 O43614 OX2R_HUMAN orexin receptor 2 295 Cytoplasmic (Potential). feeding behavior integral to plasma membrane neuropeptide receptor activity ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1) 6 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AAATAAAGCAGATCCGAGCCA 0.498 NA 21 36 0 0 0.010504 0 0 PHF3 23469 broad.mit.edu 37 6 64421138 64421138 + Missense_Mutation SNP A A G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:64421138A>G uc003pep.1 + 14 3903 c.3877A>G c.(3877-3879)AGT>GGT p.S1293G PHF3_uc003pen.2_Missense_Mutation_p.S1205G|PHF3_uc011dxs.1_Missense_Mutation_p.S562G NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 1293 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TGCATACTTCAGTAGCAGAAA 0.373 GBM(135;136 1820 29512 34071 46235) NA 37 55 0 0 0.005524 0 0 EYS 346007 broad.mit.edu 37 6 66094307 66094307 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:66094307C>A uc011dxu.1 - 8 1809 c.1271G>T c.(1270-1272)TGG>TTG p.W424L EYS_uc003peq.2_Missense_Mutation_p.W424L|EYS_uc003per.1_Missense_Mutation_p.W424L NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 424 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 ATTGAAACACCATTCTTCATT 0.318 NA 21 27 3.01185e-09 3.35792e-09 0.003954 1 0 ELOVL4 6785 broad.mit.edu 37 6 80634699 80634699 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:80634699C>T uc003pja.3 - 3 658 c.339G>A c.(337-339)GTG>GTA p.V113V ELOVL4_uc011dyt.1_Intron NM_022726 NP_073563 Q9GZR5 ELOV4_HUMAN elongation of very long chain fatty acids-like 113 fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups ovary(1)|skin(1) 2 all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011) BRCA - Breast invasive adenocarcinoma(397;0.0168) Alpha-Linolenic Acid(DB00132) TAGAATAATCCACACTCTGGC 0.308 NA 34 30 0 0 0.006999 0 0 BCKDHB 594 broad.mit.edu 37 6 80878689 80878689 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:80878689G>T uc003pjd.2 + 5 642 c.575G>T c.(574-576)GGG>GTG p.G192V BCKDHB_uc003pje.2_Missense_Mutation_p.G192V NM_000056 NP_000047 P21953 ODBB_HUMAN branched chain keto acid dehydrogenase E1 beta 192 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding 0 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) GTTGGTCATGGGGCTCTCTAT 0.433 NA 66 75 4.67498e-28 6.47102e-28 0.00361 1 0 CYB5R4 51167 broad.mit.edu 37 6 84618742 84618742 + Silent SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:84618742C>G uc003pkf.2 + 4 477 c.345C>G c.(343-345)GTC>GTG p.V115V NM_016230 NP_057314 Q7L1T6 NB5R4_HUMAN cytochrome b5 reductase 4 115 Cytochrome b5 heme-binding. cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity breast(2) 2 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) ATCGTTGGGTCAATTATGAAT 0.418 Esophageal Squamous(86;1289 1332 25971 40349 52675) NA 10 36 0 0 0.010729 0 0 MDN1 23195 broad.mit.edu 37 6 90394655 90394655 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:90394655G>C uc003pnn.1 - 71 11885 c.11769C>G c.(11767-11769)TTC>TTG p.F3923L NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 3923 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CCCGGTCAAAGAATTGCTTGT 0.403 NA 5 39 0 0 0.000602 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90577087 90577087 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:90577087G>C uc003pnr.2 + 8 4274 c.4078G>C c.(4078-4080)GAA>CAA p.E1360Q CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.E1360Q|CASP8AP2_uc011dzz.1_Missense_Mutation_p.E1360Q NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 1360 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity ovary(2) 2 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TTGTACAACAGAAGAGCTAGT 0.413 Colon(187;1656 2025 17045 31481 39901) NA 12 83 0 0 0.010729 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90577210 90577210 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:90577210G>A uc003pnr.2 + 8 4397 c.4201G>A c.(4201-4203)GAT>AAT p.D1401N CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.D1401N|CASP8AP2_uc011dzz.1_Missense_Mutation_p.D1401N NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 1401 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity ovary(2) 2 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) GGTTCATCCTGATGTGTTGGA 0.378 Colon(187;1656 2025 17045 31481 39901) NA 18 116 0 0 0.010504 0 0 BACH2 60468 broad.mit.edu 37 6 90642233 90642233 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:90642233C>G uc011eab.1 - 9 3229 c.2420G>C c.(2419-2421)AGA>ACA p.R807T BACH2_uc003pnw.2_Missense_Mutation_p.R807T NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 807 nucleus protein dimerization activity|sequence-specific DNA binding ovary(3)|pancreas(1)|lung(1)|skin(1) 6 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) AGGAGGTCCTCTCTCTGAGAA 0.567 NA 12 308 0 0 0.001368 0 0 AIM1 202 broad.mit.edu 37 6 106969284 106969284 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:106969284G>T uc003prh.2 + 2 3464 c.2977G>T c.(2977-2979)GAC>TAC p.D993Y NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 993 sugar binding breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 9 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) AAGCCGGTATGACCCAAGCAT 0.358 NA 56 36 3.53049e-34 5.0583e-34 0.00361 1 0 NR2E1 7101 broad.mit.edu 37 6 108496054 108496054 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:108496054G>T uc003psg.2 + 3 941 c.186G>T c.(184-186)GTG>GTT p.V62V NM_003269 NP_003260 Q9Y466 NR2E1_HUMAN nuclear receptor subfamily 2, group E, member 1 62 Nuclear receptor.|NR C4-type. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637) BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689) GCTGTCCGGTGGACAAGACGC 0.587 NA 31 34 3.80469e-20 4.88676e-20 0.009535 1 0 NT5DC1 221294 broad.mit.edu 37 6 116432034 116432034 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:116432034G>T uc003pwj.2 + 4 374 c.279G>T c.(277-279)ATG>ATT p.M93I NT5DC1_uc003pwk.2_Missense_Mutation_p.M93I|NT5DC1_uc003pwl.2_Missense_Mutation_p.M43I NM_152729 NP_689942 Q5TFE4 NT5D1_HUMAN 5'-nucleotidase, cytosolic II-like 1 protein 93 hydrolase activity|metal ion binding 0 all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469) all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112) GCACCAAGATGATGACTCCAG 0.493 Colon(128;1440 1664 38087 41475 42869) NA 6 79 1.26484e-09 1.41825e-09 0.00308 1 0 LAMA2 3908 broad.mit.edu 37 6 129498924 129498924 + Nonsense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:129498924C>G uc003qbn.2 + 10 1485 c.1380C>G c.(1378-1380)TAC>TAG p.Y460* LAMA2_uc003qbo.2_Nonsense_Mutation_p.Y460* NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 460 Laminin EGF-like 3. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CCAGGGGCTACACTGGCTACC 0.488 NA 10 99 0 0 0.008291 0 0 LAMA2 3908 broad.mit.edu 37 6 129498962 129498962 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:129498962G>A uc003qbn.2 + 10 1523 c.1418G>A c.(1417-1419)GGG>GAG p.G473E LAMA2_uc003qbo.2_Missense_Mutation_p.G473E NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 473 Laminin EGF-like 4. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AACTGCAGTGGGTTAGGGAGC 0.483 NA 43 58 0 0 0.010771 0 0 OR2A4 79541 broad.mit.edu 37 6 132022492 132022492 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:132022492G>C uc011ecd.1 - 1 50 c.50C>G c.(49-51)CCC>CGC p.P17R ENPP3_uc003qcu.3_Intron|ENPP3_uc010kfq.2_Intron|ENPP3_uc003qcv.2_Intron NM_030908 NP_112170 O95047 OR2A4_HUMAN olfactory receptor, family 2, subfamily A, 17 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041) TGGGCCAACGGGAAATCCCAG 0.493 NA 18 85 0 0 0.00278 0 0 TNFAIP3 7128 broad.mit.edu 37 6 138199845 138199845 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:138199845G>A uc003qhr.2 + 7 1329 c.1263G>A c.(1261-1263)CTG>CTA p.L421L TNFAIP3_uc003qhs.2_Silent_p.L421L NM_006290 NP_006281 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 421 Interaction with NAF1 (By similarity). anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(22) haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1) 137 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) TCCCAAAGCTGAACTCCAAGC 0.587 GBM(130;153 1739 22295 28918 47987) NA D|N|F marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma 8 96 0 0 0.004482 0 0 UTRN 7402 broad.mit.edu 37 6 144758806 144758806 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:144758806G>C uc003qkt.2 + 10 1257 c.1165G>C c.(1165-1167)GAG>CAG p.E389Q UTRN_uc010khq.1_Missense_Mutation_p.E389Q NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 389 Interaction with SYNM.|Spectrin 2. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AGAAGAATTTGAGATTCAGGA 0.507 NA 8 105 0 0 0.00308 0 0 UTRN 7402 broad.mit.edu 37 6 145069583 145069583 + Missense_Mutation SNP G G A rs141157215 TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:145069583G>A uc003qkt.2 + 54 8233 c.8141G>A c.(8140-8142)CGG>CAG p.R2714Q NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 2714 Spectrin 20. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GAGTCCGTGCGGAATGGCTGG 0.483 NA 5 45 0 0 0.000602 0 0 ESR1 2099 broad.mit.edu 37 6 152332868 152332868 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:152332868G>A uc003qom.3 + 7 1544 c.1174G>A c.(1174-1176)GTC>ATC p.V392I ESR1_uc010kin.2_Missense_Mutation_p.V392I|ESR1_uc010kio.2_Missense_Mutation_p.V394I|ESR1_uc010kip.2_Missense_Mutation_p.V391I|ESR1_uc003qon.3_Missense_Mutation_p.V392I|ESR1_uc003qoo.3_Missense_Mutation_p.V392I|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Intron|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Missense_Mutation_p.V61I|ESR1_uc011eex.1_Missense_Mutation_p.V173I|ESR1_uc010kit.1_Intron|ESR1_uc011eey.1_Missense_Mutation_p.V129I NM_001122742 NP_001116214 P03372 ESR1_HUMAN estrogen receptor alpha isoform 4 392 Steroid-binding.|Interaction with AKAP13. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding central_nervous_system(2)|ovary(1)|lung(1)|breast(1) 5 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) GATTGGTCTCGTCTGGCGCTC 0.498 NA 7 131 0 0 0.001984 0 0 IGF2R 3482 broad.mit.edu 37 6 160500618 160500618 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:160500618C>T uc003qta.2 + 38 5633 c.5485C>T c.(5485-5487)CGC>TGC p.R1829C NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 1829 13.|Lumenal (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) CCAGGTGACTCGCGACTCGCG 0.582 NA 3 27 0 0 0.009096 0 0 IQCE 23288 broad.mit.edu 37 7 2608628 2608628 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:2608628C>T uc003smo.3 + 3 309 c.125C>T c.(124-126)TCG>TTG p.S42L IQCE_uc010ksm.1_Missense_Mutation_p.S42L|IQCE_uc003sml.1_Missense_Mutation_p.S42L|IQCE_uc011jvy.1_Missense_Mutation_p.S26L|IQCE_uc011jvz.1_Intron|IQCE_uc003smk.3_Missense_Mutation_p.S26L|IQCE_uc003smn.3_Intron NM_152558 NP_689771 Q6IPM2 IQCE_HUMAN IQ motif containing E isoform 1 42 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) CCACCCACATCGCCAAGTAAG 0.488 NA 47 44 0 0 0.00361 0 0 RNF216 54476 broad.mit.edu 37 7 5662711 5662711 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:5662711T>A uc003soy.1 - 17 2571 c.2381A>T c.(2380-2382)CAG>CTG p.Q794L RNF216_uc010ksz.1_Missense_Mutation_p.Q416L|RNF216_uc010kta.1_Missense_Mutation_p.Q416L|RNF216_uc011jwj.1_Missense_Mutation_p.Q416L|RNF216_uc003sox.1_Missense_Mutation_p.Q851L NM_207116 NP_996999 Q9NWF9 RN216_HUMAN ring finger protein 216 isoform b 794 Pro-rich. apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus|nucleus ligase activity|protein binding|protein binding|zinc ion binding ovary(3)|breast(2) 5 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) CATCTGTGGCTGTGGCAGGTT 0.632 NA 109 142 0 0 0.00361 0 0 COL28A1 340267 broad.mit.edu 37 7 7412854 7412854 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:7412854C>A uc003src.1 - 32 2800 c.2683G>T c.(2683-2685)GTA>TTA p.V895L COL28A1_uc011jxe.1_Missense_Mutation_p.V578L NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN collagen, type XXVIII precursor 895 VWFA 2. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity skin(3) 3 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) ACTTTTTTTACACCTGGCCTT 0.488 NA 47 92 5.34276e-22 6.9812e-22 0.00361 1 0 TMEM195 392636 broad.mit.edu 37 7 15584521 15584521 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:15584521G>T uc003stb.1 - 3 455 c.285C>A c.(283-285)ACC>ACA p.T95T NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 95 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding 0 AAATATAACTGGTCAGTTCAA 0.338 NA 81 147 2.20581e-54 3.35666e-54 0.00361 1 0 DNAH11 8701 broad.mit.edu 37 7 21723509 21723509 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:21723509C>G uc003svc.2 + 33 5620 c.5589C>G c.(5587-5589)TTC>TTG p.F1863L NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1863 AAA 1 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TCCAGTACTTCTATGAATACT 0.428 NA Kartagener_syndrome 36 315 0 0 0.002836 0 0 FKBP14 55033 broad.mit.edu 37 7 30058635 30058635 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:30058635C>T uc003tal.1 - 3 598 c.454G>A c.(454-456)GAC>AAC p.D152N FKBP14_uc010kvq.1_RNA NM_017946 NP_060416 Q9NWM8 FKB14_HUMAN FK506 binding protein 14 precursor 152 EF-hand 1.|1 (Potential). protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 AGTTTCCAGTCATCATTAAGA 0.343 NA 16 133 0 0 0.003163 0 0 EEPD1 80820 broad.mit.edu 37 7 36194470 36194470 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:36194470G>T uc003tfa.2 + 2 1177 c.537G>T c.(535-537)AGG>AGT p.R179S NM_030636 NP_085139 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family 179 DNA repair DNA binding 0 ACCTAGTGAGGATGGATGGTA 0.612 NA 55 114 1.4709e-25 1.991e-25 0.00361 1 0 ANLN 54443 broad.mit.edu 37 7 36438973 36438973 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:36438973G>T uc003tff.2 + 3 662 c.458G>T c.(457-459)CGG>CTG p.R153L ANLN_uc011kaz.1_Missense_Mutation_p.R65L|ANLN_uc003tfg.2_Missense_Mutation_p.R153L|ANLN_uc010kxe.2_Missense_Mutation_p.R153L NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 153 Nuclear localization.|Interaction with CD2AP. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding ovary(2)|skin(1) 3 GCAGAGCAACGGCGCCGTTGG 0.448 NA 30 49 7.26314e-15 8.69094e-15 0.007291 1 0 AMPH 273 broad.mit.edu 37 7 38505777 38505777 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:38505777G>C uc003tgu.2 - 8 731 c.662C>G c.(661-663)GCG>GGG p.A221G AMPH_uc003tgv.2_Missense_Mutation_p.A221G|AMPH_uc003tgt.2_5'Flank NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 221 BAR. endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 ACTCACCACCGCAATTTCCTT 0.353 NA 28 58 0 0 0.007291 0 0 URGCP 55665 broad.mit.edu 37 7 43916471 43916471 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:43916471C>T uc003tiw.2 - 6 2648 c.2591G>A c.(2590-2592)GGC>GAC p.G864D URGCP_uc003tiu.2_Missense_Mutation_p.G821D|URGCP_uc003tiv.2_Missense_Mutation_p.G789D|URGCP_uc003tix.2_Missense_Mutation_p.G855D|URGCP_uc003tiy.2_Missense_Mutation_p.G821D|URGCP_uc003tiz.2_Missense_Mutation_p.G821D|URGCP_uc011kbj.1_Missense_Mutation_p.G821D NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 864 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 GAAGGCCAGGCCTGCCAGTGC 0.637 NA 6 132 0 0 0.001984 0 0 RASA4P 401331 broad.mit.edu 37 7 44073792 44073792 + Missense_Mutation SNP T T C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:44073792T>C uc011kbk.1 - 6 755 c.650A>G c.(649-651)CAC>CGC p.H217R RASA4P_uc003tji.2_RNA|RASA4P_uc010kxx.2_RNA NM_006989 NP_008920 RAS p21 protein activator 4 isoform 1 0 CTCTTTTTGGTGGCAGCAGCT 0.622 NA 59 40 0 0 0.00361 0 0 TNS3 64759 broad.mit.edu 37 7 47384412 47384412 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:47384412G>A uc003tnv.2 - 20 2958 c.2591C>T c.(2590-2592)CCG>CTG p.P864L TNS3_uc003tnw.2_Missense_Mutation_p.P864L NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 864 focal adhesion protein binding ovary(4) 4 TGGGCTGAACGGAGGATGGCG 0.597 NA 9 186 0 0 0.006214 0 0 SUN3 256979 broad.mit.edu 37 7 48046872 48046872 + Nonsense_Mutation SNP C C A rs145833872 TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:48046872C>A uc003tof.2 - 6 479 c.382G>T c.(382-384)GAA>TAA p.E128* SUN3_uc010kyq.2_Nonsense_Mutation_p.E28*|SUN3_uc003tog.2_Nonsense_Mutation_p.E128*|SUN3_uc011kcf.1_Nonsense_Mutation_p.E116* NM_152782 NP_689995 Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 1 128 Potential. integral to membrane central_nervous_system(1) 1 TCTATTTGTTCGATCAAAAAT 0.418 NA 63 80 5.7554e-21 7.42144e-21 0.00361 1 0 CDC14C 168448 broad.mit.edu 37 7 48965435 48965435 + Silent SNP C C T rs145329673 by1000genomes TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:48965435C>T uc010kyv.1 + 1 1279 c.1167C>T c.(1165-1167)GAC>GAT p.D389D NR_003595 SubName: Full=Putative uncharacterized protein MGC26484; 0 ACAGTGATGACGACGAAATCA 0.463 NA 5 60 0 0 0.001855 0 0 COBL 23242 broad.mit.edu 37 7 51258687 51258687 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:51258687G>A uc003tpr.3 - 4 730 c.545C>T c.(544-546)CCA>CTA p.P182L COBL_uc003tps.2_Missense_Mutation_p.P182L|COBL_uc011kcl.1_Missense_Mutation_p.P182L|COBL_uc010kzc.2_Missense_Mutation_p.P182L|COBL_uc003tpt.2_Missense_Mutation_p.P182L|COBL_uc003tpp.3_5'UTR|COBL_uc003tpq.3_Missense_Mutation_p.P98L NM_015198 NP_056013 O75128 COBL_HUMAN cordon-bleu homolog 182 skin(3)|ovary(2) 5 Glioma(55;0.08) ACAAATGACTGGGAGAATATT 0.527 NSCLC(189;2119 2138 12223 30818 34679) NA 12 132 0 0 0.010729 0 0 ZNF716 441234 broad.mit.edu 37 7 57522870 57522870 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:57522870C>A uc011kdi.1 + 3 370 c.258C>A c.(256-258)CAC>CAA p.H86Q NM_001159279 NP_001152751 zinc finger protein 716 ovary(2) 2 TAGCCAAACACCCAGGTAGGT 0.443 NA 105 171 1.97301e-41 2.92078e-41 0.00361 1 0 HIP1 3092 broad.mit.edu 37 7 75174446 75174446 + Missense_Mutation SNP C C G rs138790100 TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:75174446C>G uc003uds.1 - 26 2641 c.2600G>C c.(2599-2601)CGA>CCA p.R867P HIP1_uc011kfz.1_Missense_Mutation_p.R693P NM_005338 NP_005329 O00291 HIP1_HUMAN huntingtin interacting protein 1 867 Important for actin binding (By similarity).|I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1) 8 TTCTGTCCATCGAGAGTTCTT 0.383 NA T PDGFRB CMML 63 212 0 0 0.00361 0 0 ABCB1 5243 broad.mit.edu 37 7 87199501 87199501 + Nonsense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:87199501C>A uc003uiz.1 - 6 743 c.325G>T c.(325-327)GAA>TAA p.E109* ABCB1_uc011khc.1_Nonsense_Mutation_p.E109* NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 109 ABC transmembrane type-1 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GTCATGTCTTCCTCCAGATTC 0.318 NA 79 39 9.90312e-32 1.3944e-31 0.00361 1 0 SAMD9L 219285 broad.mit.edu 37 7 92762732 92762732 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:92762732C>T uc003umh.1 - 5 3769 c.2553G>A c.(2551-2553)TTG>TTA p.L851L SAMD9L_uc003umj.1_Silent_p.L851L|SAMD9L_uc003umi.1_Silent_p.L851L|SAMD9L_uc010lfb.1_Silent_p.L851L|SAMD9L_uc003umk.1_Silent_p.L851L|SAMD9L_uc010lfc.1_Silent_p.L851L|SAMD9L_uc010lfd.1_Silent_p.L851L|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 851 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TACTGTCTGCCAATTTTGCAC 0.373 NA 40 98 0 0 0.006999 0 0 TECPR1 25851 broad.mit.edu 37 7 97862266 97862266 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:97862266T>A uc003upg.2 - 12 1896 c.1691A>T c.(1690-1692)CAC>CTC p.H564L TECPR1_uc003uph.1_Missense_Mutation_p.H494L NM_015395 NP_056210 Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 564 integral to membrane protein binding pancreas(1) 1 GGACAGCATGTGTACCGAGGA 0.662 NA 5 91 0 0 0.000602 0 0 TRRAP 8295 broad.mit.edu 37 7 98582624 98582624 + Nonsense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:98582624G>T uc003upp.2 + 61 9567 c.9358G>T c.(9358-9360)GAA>TAA p.E3120* TRRAP_uc011kis.1_Nonsense_Mutation_p.E3091*|TRRAP_uc003upr.2_Nonsense_Mutation_p.E2808* NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 3120 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GATGACAGCCGAATTTTATGC 0.299 NA 34 66 8.16277e-20 1.04025e-19 0.006999 1 0 MUC17 140453 broad.mit.edu 37 7 100681040 100681040 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:100681040G>T uc003uxp.1 + 3 6396 c.6343G>T c.(6343-6345)GCC>TCC p.A2115S MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2115 Extracellular (Potential).|33.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CACGCCGGTGGCCAGTCCTGA 0.498 NA 326 170 3.77821e-141 5.99133e-141 0.00361 1 0 ASZ1 136991 broad.mit.edu 37 7 117007429 117007429 + Missense_Mutation SNP T T C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:117007429T>C uc003vjb.2 - 12 1315 c.1252A>G c.(1252-1254)AAA>GAA p.K418E ASZ1_uc011kno.1_Missense_Mutation_p.K409E|ASZ1_uc011knp.1_Missense_Mutation_p.K210E NM_130768 NP_570124 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper 418 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) TCTTTTAGTTTGCAGACCTTT 0.328 NA 30 15 0 0 0.008361 0 0 GRM8 2918 broad.mit.edu 37 7 126086280 126086280 + Silent SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:126086280C>A uc003vlr.2 - 9 2888 c.2577G>T c.(2575-2577)GTG>GTT p.V859V GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.V859V|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 859 Cytoplasmic (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) CAGCTGTCACCACAGCCTTGA 0.423 NA HNSCC(24;0.065) 104 58 9.16707e-34 1.30958e-33 0.00361 1 0 PAX4 5078 broad.mit.edu 37 7 127251249 127251249 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:127251249G>T uc010lld.1 - 9 1107 c.901C>A c.(901-903)CCA>ACA p.P301T PAX4_uc003vmf.2_Missense_Mutation_p.P299T|PAX4_uc003vmg.1_Intron NM_006193 NP_006184 O43316 PAX4_HUMAN paired box 4 312 Transcription repression. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TTCGGCTGTGGGGGCAAGTGG 0.577 Ovarian(113;737 1605 7858 27720 34092) NA 13 12 3.35478e-16 4.11474e-16 0.003163 1 0 PLXNA4 91584 broad.mit.edu 37 7 132193099 132193099 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:132193099G>A uc003vra.3 - 2 583 c.354C>T c.(352-354)CTC>CTT p.L118L PLXNA4_uc003vrc.2_Silent_p.L118L|PLXNA4_uc003vrb.2_Silent_p.L118L NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 118 Extracellular (Potential).|Sema. integral to membrane|intracellular|plasma membrane ovary(1) 1 AGTCTATGAGGAGCATCTTGT 0.577 NA 37 64 0 0 0.005524 0 0 UBN2 254048 broad.mit.edu 37 7 138958816 138958816 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:138958816G>A uc011kqr.1 + 11 1969 c.1969G>A c.(1969-1971)GCA>ACA p.A657T UBN2_uc003vuv.2_Missense_Mutation_p.A380T NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN ubinuclein 2 657 ovary(1)|skin(1) 2 CTGGATGCAGGCAAGGTAAGA 0.348 NA 31 24 0 0 0.010818 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672860 141672860 + Silent SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:141672860C>G uc003vwx.1 - 1 714 c.630G>C c.(628-630)CTG>CTC p.L210L NM_176817 NP_789787 P59533 T2R38_HUMAN taste receptor, type 2, member 38 210 Helical; Name=5; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|skin(1) 2 Melanoma(164;0.0171) CAGAAGAAACCAGAAACAATA 0.448 NA 3 110 0 0 0.004672 0 0 CLCN1 1180 broad.mit.edu 37 7 143027884 143027884 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:143027884G>T uc003wcr.1 + 8 960 c.873G>T c.(871-873)GAG>GAT p.E291D CLCN1_uc011ktc.1_Translation_Start_Site|CLCN1_uc003wcs.1_RNA|CLCN1_uc010lox.1_RNA|CLCN1_uc010loy.1_Missense_Mutation_p.R87M NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 291 E -> K (in MCR). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) TTAGCATCGAGGTCACCTCCA 0.557 NA 65 25 5.45122e-27 7.48207e-27 0.00361 1 0 OR2A25 392138 broad.mit.edu 37 7 143771609 143771609 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:143771609G>C uc011ktx.1 + 1 297 c.297G>C c.(295-297)CAG>CAC p.Q99H NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, 99 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) GCATGACCCAGATGTTTCTGT 0.542 NA 30 77 0 0 0.008361 0 0 ASB10 136371 broad.mit.edu 37 7 150878331 150878331 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:150878331C>T uc003wjm.1 - 3 1060 c.934G>A c.(934-936)GAG>AAG p.E312K ASB10_uc003wjl.1_Missense_Mutation_p.E312K|ASB10_uc003wjn.1_Missense_Mutation_p.E252K NM_001142459 NP_001135931 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box-containing 10 267 ANK 5. intracellular signal transduction 0 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTGGTGGCCTCGGCATCGGTG 0.657 NA 6 30 0 0 0.001984 0 0 MLL3 58508 broad.mit.edu 37 7 151970866 151970866 + Silent SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr7:151970866T>A uc003wla.2 - 7 1155 c.936A>T c.(934-936)GCA>GCT p.A312A NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 312 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TGCCGGCTCCTGCAGCACAAG 0.438 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 6 245 0 0 0.001168 0 0 CSMD1 64478 broad.mit.edu 37 8 2976080 2976080 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:2976080G>T uc011kwk.1 - 42 6664 c.6274C>A c.(6274-6276)CCC>ACC p.P2092T CSMD1_uc011kwj.1_Missense_Mutation_p.P1484T|CSMD1_uc010lrg.2_Missense_Mutation_p.P160T NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2092 Extracellular (Potential).|Sushi 12. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGAAATGGGGGTGGATCTGGA 0.408 NA 35 48 1.57019e-19 1.9881e-19 0.007835 1 0 MCPH1 79648 broad.mit.edu 37 8 6302793 6302793 + Missense_Mutation SNP A A C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:6302793A>C uc003wqi.2 + 8 1618 c.1550A>C c.(1549-1551)GAC>GCC p.D517A MCPH1_uc003wqh.2_Missense_Mutation_p.D517A|MCPH1_uc011kwl.1_Missense_Mutation_p.D469A NM_024596 NP_078872 Q8NEM0 MCPH1_HUMAN microcephalin 517 microtubule organizing center central_nervous_system(1)|skin(1) 2 Hepatocellular(245;0.0663) Colorectal(4;0.0505) GGGAAAGAAGACGCATGCCCA 0.493 Colon(95;1448 1467 8277 34473 35819) NA 33 50 0 0 0.003755 0 0 MSRA 4482 broad.mit.edu 37 8 10177447 10177447 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:10177447C>T uc003wsx.2 + 5 688 c.491C>T c.(490-492)ACC>ATC p.T164I MSRA_uc011kwx.1_Missense_Mutation_p.T124I|MSRA_uc011kwy.1_Missense_Mutation_p.T121I|MSRA_uc003wsz.2_Missense_Mutation_p.T121I|MSRA_uc003wsy.2_Missense_Mutation_p.T98I NM_012331 NP_036463 Q9UJ68 MSRA_HUMAN methionine sulfoxide reductase A isoform a 164 methionine metabolic process|protein modification process|response to oxidative stress mitochondrion|nucleus peptide-methionine-(S)-S-oxide reductase activity 0 Myeloproliferative disorder(644;0.178) L-Methionine(DB00134) ATCTACCCGACCTCTGCCAAG 0.577 NSCLC(88;1378 1469 30580 49103 52286) NA 5 19 0 0 0.001168 0 0 PINX1 54984 broad.mit.edu 37 8 10622982 10622982 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:10622982C>A uc003wth.2 - 7 949 c.916G>T c.(916-918)GTA>TTA p.V306L SOX7_uc011kwz.1_Intron|PINX1_uc003wti.2_3'UTR NM_017884 NP_060354 Q96BK5 PINX1_HUMAN PIN2-interacting protein 1 306 Telomerase inhibitory domain (TID). mitotic metaphase plate congression|negative regulation of cell proliferation chromosome, telomeric region|condensed chromosome kinetochore|mitochondrion|nuclear chromosome|nucleolus|spindle protein binding|telomerase inhibitor activity|telomeric RNA binding lung(1)|kidney(1)|skin(1) 3 Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201) GCTATCTCTACTGGTTTTTGC 0.522 NA 18 22 2.4624e-09 2.74846e-09 0.008871 1 0 PCM1 5108 broad.mit.edu 37 8 17796488 17796488 + Silent SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:17796488G>C uc003wyi.3 + 5 1004 c.582G>C c.(580-582)GGG>GGC p.G194G PCM1_uc011kyh.1_Silent_p.G194G|PCM1_uc003wyj.3_Silent_p.G194G|PCM1_uc003wyg.2_Silent_p.G194G|PCM1_uc003wyh.2_Silent_p.G194G|PCM1_uc010lta.1_Silent_p.G194G NM_006197 NP_006188 Q15154 PCM1_HUMAN pericentriolar material 1 194 centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2) 36 Colorectal(111;0.0789) AAGAAGATGGGAGGGGAGAAC 0.408 NA T RET|JAK2 papillary thyroid|CML|MPD 23 23 0 0 0.00333 0 0 DOCK5 80005 broad.mit.edu 37 8 25166439 25166439 + Missense_Mutation SNP A A C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:25166439A>C uc003xeg.2 + 12 1327 c.1190A>C c.(1189-1191)CAA>CCA p.Q397P DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.Q111P|DOCK5_uc003xei.2_5'Flank NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 397 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) CACAAAGGGCAAGGTACAGTC 0.493 Pancreas(145;34 1887 3271 10937 30165) NA 18 22 0 0 0.007413 0 0 C8orf41 80185 broad.mit.edu 37 8 33369537 33369537 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:33369537C>T uc003xjl.3 - 1 1120 c.595G>A c.(595-597)GAG>AAG p.E199K C8orf41_uc003xjk.3_Missense_Mutation_p.E199K|C8orf41_uc010lvv.2_Missense_Mutation_p.E199K|C8orf41_uc003xjm.3_Missense_Mutation_p.E199K|C8orf41_uc003xjn.1_Missense_Mutation_p.E199K NM_025115 NP_079391 Q6NXR4 CH041_HUMAN hypothetical protein LOC80185 199 binding 0 KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111) CTCCCTTTCTCATCTTCATTT 0.483 NA 49 116 0 0 0.00361 0 0 RNF122 79845 broad.mit.edu 37 8 33416262 33416262 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:33416262C>A uc003xjo.1 - 2 455 c.53G>T c.(52-54)AGC>ATC p.S18I NM_024787 NP_079063 Q9H9V4 RN122_HUMAN ring finger protein 122 18 endoplasmic reticulum|Golgi apparatus|integral to membrane zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116) CTTGTTGGTGCTAACCAGTCC 0.493 NA 13 36 9.31168e-06 9.82287e-06 0.001855 1 0 ADAM2 2515 broad.mit.edu 37 8 39626924 39626924 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:39626924C>A uc003xnj.2 - 12 1274 c.1199G>T c.(1198-1200)TGT>TTT p.C400F ADAM2_uc003xnk.2_Missense_Mutation_p.C381F|ADAM2_uc011lck.1_Missense_Mutation_p.C400F|ADAM2_uc003xnl.2_Missense_Mutation_p.C274F NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 400 Extracellular (Potential).|Disintegrin. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TTCAGTCCCACAGTCACACTC 0.423 NA 33 110 4.11147e-13 4.83123e-13 0.003755 1 0 MYST3 7994 broad.mit.edu 37 8 41790299 41790299 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:41790299G>A uc010lxb.2 - 18 5983 c.5439C>T c.(5437-5439)CCC>CCT p.P1813P MYST3_uc010lxc.2_Silent_p.P1813P|MYST3_uc003xon.3_Silent_p.P1813P NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 1813 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) CCAAGTTTGGGGGTGGCGTCA 0.527 NA 43 178 0 0 0.00874 0 0 POTEA 340441 broad.mit.edu 37 8 43197344 43197344 + Missense_Mutation SNP A A G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:43197344A>G uc003xpz.1 + 11 1276 c.1233A>G c.(1231-1233)ATA>ATG p.I411M POTEA_uc003xqa.1_Missense_Mutation_p.I365M NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 411 ovary(1) 1 AAAGCCAAATACATTCAGTGG 0.323 NA 62 51 0 0 0.00361 0 0 PRKDC 5591 broad.mit.edu 37 8 48866220 48866220 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:48866220C>A uc003xqi.2 - 7 738 c.681G>T c.(679-681)TTG>TTT p.L227F PRKDC_uc003xqj.2_Missense_Mutation_p.L227F|PRKDC_uc011ldh.1_Missense_Mutation_p.L227F NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 227 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GAAGTGAGGACAACCCCTTCA 0.393 Esophageal Squamous(79;1091 1253 12329 31680 40677) NA NHEJ 24 47 4.59853e-10 5.21592e-10 0.005443 1 0 RP1 6101 broad.mit.edu 37 8 55539407 55539407 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:55539407G>A uc003xsd.1 + 4 3113 c.2965G>A c.(2965-2967)GAG>AAG p.E989K RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 989 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TCTATGTAAAGAGGGAGATAA 0.368 Colon(91;1014 1389 7634 14542 40420) NA 52 120 0 0 0.00361 0 0 CHD7 55636 broad.mit.edu 37 8 61748754 61748754 + Missense_Mutation SNP A A G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:61748754A>G uc003xue.2 + 16 4378 c.3901A>G c.(3901-3903)AAA>GAA p.K1301E NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1301 Helicase C-terminal. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GCTGCTGCCAAAACTGAAGGC 0.502 NA 28 21 0 0 0.00632 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70744678 70744678 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:70744678G>T uc003xyl.2 - 2 938 c.231C>A c.(229-231)AAC>AAA p.N77K SLCO5A1_uc010lzb.2_Missense_Mutation_p.N77K|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.N77K|SLCO5A1_uc010lzc.2_Missense_Mutation_p.N77K NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 77 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GGGCCAACGGGTTCGGGCCTT 0.652 NA OREG0018815 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 26 2.95478e-19 3.72196e-19 0.00874 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88885206 88885206 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:88885206C>A uc003ydz.2 - 1 1091 c.994G>T c.(994-996)GTG>TTG p.V332L NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 332 WD 2. ovary(1) 1 TCCTGGCCCACGGCCGCCACG 0.567 NA 37 58 1.07637e-12 1.25876e-12 0.004878 1 0 ZFPM2 23414 broad.mit.edu 37 8 106813683 106813683 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:106813683C>T uc003ymd.2 + 8 1396 c.1373C>T c.(1372-1374)CCT>CTT p.P458L ZFPM2_uc011lhs.1_Missense_Mutation_p.P189L NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 458 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GAGATACAGCCTACAACAAAT 0.448 NA 34 91 0 0 0.012213 0 0 CSMD3 114788 broad.mit.edu 37 8 113293532 113293532 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:113293532G>T uc003ynu.2 - 59 9538 c.9379C>A c.(9379-9381)CGA>AGA p.R3127R CSMD3_uc003yns.2_Silent_p.R2329R|CSMD3_uc003ynt.2_Silent_p.R3087R|CSMD3_uc011lhx.1_Silent_p.R2958R NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3127 Extracellular (Potential).|Sushi 23. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CCATCAATTCGGAAGACTTTC 0.398 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 48 71 5.13769e-22 6.73119e-22 0.00361 1 0 COL14A1 7373 broad.mit.edu 37 8 121209086 121209086 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:121209086G>T uc003yox.2 + 6 758 c.493G>T c.(493-495)GGT>TGT p.G165C COL14A1_uc003yoy.2_5'UTR|COL14A1_uc010mde.1_5'UTR NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 165 VWFA 1. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CCTGGTCGATGGTTCATGGAG 0.443 NA 60 232 1.13205e-32 1.60319e-32 0.00361 1 0 DERL1 79139 broad.mit.edu 37 8 124034969 124034969 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:124034969C>T uc003ypl.2 - 5 694 c.408G>A c.(406-408)CTG>CTA p.L136L DERL1_uc003ypm.2_Silent_p.L136L|DERL1_uc011lif.1_Intron|DERL1_uc003ypn.2_Silent_p.L136L NM_024295 NP_077271 Q9BUN8 DERL1_HUMAN Der1-like domain family, member 1 isoform a 136 Lumenal (Potential). endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol integral to endoplasmic reticulum membrane MHC class I protein binding|receptor activity 0 Lung NSC(37;1.06e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) TGTCTCTGTTCAGCTGGGCCC 0.413 NA OREG0018957 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 308 0 0 0.004482 0 0 MYC 4609 broad.mit.edu 37 8 128750661 128750661 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:128750661G>T uc003ysh.1 + 3 666 c.153G>T c.(151-153)AAG>AAT p.K51N MYC_uc003ysi.2_Missense_Mutation_p.K66N NM_002467 NP_002458 P01106 MYC_HUMAN myc proto-oncogene protein 51 branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) ATATCTGGAAGAAATTCGAGC 0.657 3 A|T IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@ Burkitt lymphoma| amplified in other cancers|B-CLL OREG0018982 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 71 2.2871e-25 3.08726e-25 0.007835 1 0 TMEM71 137835 broad.mit.edu 37 8 133740123 133740123 + Silent SNP T T C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:133740123T>C uc003ytp.2 - 6 823 c.594A>G c.(592-594)GGA>GGG p.G198G TMEM71_uc003ytm.1_Silent_p.G20G|TMEM71_uc003ytn.2_Silent_p.G180G|TMEM71_uc003yto.2_Intron NM_144649 NP_653250 Q6P5X7 TMM71_HUMAN transmembrane protein 71 isoform 1 199 integral to membrane ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GGGAGTTTCCTCCAGGAGGCT 0.463 NA 38 271 0 0 0.00623 0 0 CYP11B2 1585 broad.mit.edu 37 8 143996289 143996289 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:143996289G>T uc003yxk.1 - 4 634 c.631C>A c.(631-633)CTG>ATG p.L211M NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 211 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) TGGCCAACCAGGCCCAGCCGC 0.617 NA Familial_Hyperaldosteronism_type_I 45 72 1.62263e-30 2.2652e-30 0.00361 1 0 CYP11B2 1585 broad.mit.edu 37 8 143996511 143996511 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:143996511C>T uc003yxk.1 - 3 549 c.546G>A c.(544-546)GGG>GGA p.G182G NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 182 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GGGTCAGGCTCCCCCGGGCGT 0.647 NA Familial_Hyperaldosteronism_type_I 5 69 0 0 0.00245 0 0 EPPK1 83481 broad.mit.edu 37 8 144940824 144940824 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:144940824G>T uc003zaa.1 - 1 6611 c.6598C>A c.(6598-6600)CTG>ATG p.L2200M NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 2200 cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCCGTTTCCAGGTCCTGGAGC 0.587 NA 44 506 9.39024e-22 1.22373e-21 0.009718 1 0 PLEC 5339 broad.mit.edu 37 8 144992484 144992484 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:144992484G>A uc003zaf.1 - 32 12086 c.11916C>T c.(11914-11916)GAC>GAT p.D3972D PLEC_uc003zab.1_Silent_p.D3835D|PLEC_uc003zac.1_Silent_p.D3839D|PLEC_uc003zad.2_Silent_p.D3835D|PLEC_uc003zae.1_Silent_p.D3803D|PLEC_uc003zag.1_Silent_p.D3813D|PLEC_uc003zah.2_Silent_p.D3821D|PLEC_uc003zaj.2_Silent_p.D3862D NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3972 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 CTGACAGCTGGTCGTGCGTGT 0.687 NA 4 39 0 0 0.000602 0 0 MAF1 84232 broad.mit.edu 37 8 145161115 145161115 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:145161115G>C uc003zbc.1 + 4 850 c.349G>C c.(349-351)GAG>CAG p.E117Q SHARPIN_uc003zba.2_5'Flank|SHARPIN_uc003zbb.2_5'Flank|KIAA1875_uc003zbd.3_5'Flank NM_032272 NP_115648 Q9H063 MAF1_HUMAN MAF1 protein 117 negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent cytoplasm|nucleus 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCGCAGCCATGAGTTCAGCCG 0.612 NA 13 155 0 0 0.001368 0 0 NFKBIL2 4796 broad.mit.edu 37 8 145661726 145661726 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr8:145661726G>C uc011llg.1 - 17 2105 c.2090C>G c.(2089-2091)CCC>CGC p.P697R uc011llh.1_Intron NM_013432 NP_038460 Q96HA7 TONSL_HUMAN NF-kappa-B inhibitor-like protein 2 697 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity 0 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) TTCTGGGCAGGGGCTCAAAGG 0.627 NA 49 205 0 0 0.00361 0 0 VLDLR 7436 broad.mit.edu 37 9 2646540 2646540 + Missense_Mutation SNP A A G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr9:2646540A>G uc003zhk.1 + 11 2088 c.1691A>G c.(1690-1692)GAC>GGC p.D564G VLDLR_uc003zhl.1_Missense_Mutation_p.D564G|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Missense_Mutation_p.D523G NM_003383 NP_003374 P98155 VLDLR_HUMAN very low density lipoprotein receptor isoform a 564 LDL-receptor class B 3.|Extracellular (Potential). cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123) ATAGCTGTGGACCCACTGTCT 0.458 NA 14 41 0 0 0.00245 0 0 PTPRD 5789 broad.mit.edu 37 9 8376003 8376003 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr9:8376003G>C uc003zkk.2 - 38 5305 c.4594C>G c.(4594-4596)CTA>GTA p.L1532V PTPRD_uc003zkp.2_Missense_Mutation_p.L1126V|PTPRD_uc003zkq.2_Missense_Mutation_p.L1125V|PTPRD_uc003zkr.2_Missense_Mutation_p.L1116V|PTPRD_uc003zks.2_Missense_Mutation_p.L1125V|PTPRD_uc003zkl.2_Missense_Mutation_p.L1523V|PTPRD_uc003zkm.2_Missense_Mutation_p.L1519V|PTPRD_uc003zkn.2_Missense_Mutation_p.L1121V|PTPRD_uc003zko.2_Missense_Mutation_p.L1122V NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1532 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AAGAAAGCTAGAAAAGGTGTA 0.473 NA TSP Lung(15;0.13) 4 119 0 0 0.009096 0 0 PTPRD 5789 broad.mit.edu 37 9 8633370 8633370 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr9:8633370G>T uc003zkk.2 - 13 1010 c.299C>A c.(298-300)GCC>GAC p.A100D PTPRD_uc003zkp.2_Missense_Mutation_p.A100D|PTPRD_uc003zkq.2_Missense_Mutation_p.A100D|PTPRD_uc003zkr.2_Missense_Mutation_p.A100D|PTPRD_uc003zks.2_Missense_Mutation_p.A100D|PTPRD_uc003zkl.2_Missense_Mutation_p.A100D|PTPRD_uc003zkm.2_Missense_Mutation_p.A100D|PTPRD_uc003zkn.2_Missense_Mutation_p.A100D|PTPRD_uc003zko.2_Missense_Mutation_p.A100D|PTPRD_uc003zkt.1_Missense_Mutation_p.A100D NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 100 Ig-like C2-type 1.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) ATTATTTGAGGCCACACATTC 0.433 NA TSP Lung(15;0.13) 108 44 4.44732e-65 6.94009e-65 0.00361 1 0 BNC2 54796 broad.mit.edu 37 9 16419222 16419222 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr9:16419222G>T uc003zml.2 - 7 3205 c.3065C>A c.(3064-3066)TCT>TAT p.S1022Y BNC2_uc011lmw.1_Missense_Mutation_p.S927Y|BNC2_uc003zmm.2_3'UTR|BNC2_uc011lmv.1_3'UTR|BNC2_uc003zmj.2_3'UTR|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.S809Y NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 1022 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) GAACATAAGAGATCCTGAAAC 0.552 NA 69 39 1.49552e-23 1.99132e-23 0.00361 1 0 UBAP2 55833 broad.mit.edu 37 9 33988994 33988994 + Missense_Mutation SNP C C T rs112150520 by1000genomes TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr9:33988994C>T uc003ztq.1 - 5 532 c.419G>A c.(418-420)AGA>AAA p.R140K UBAP2_uc011loc.1_Missense_Mutation_p.R102K|UBAP2_uc011lod.1_5'UTR|UBAP2_uc011loe.1_Intron|UBAP2_uc011lof.1_Missense_Mutation_p.R65K|UBAP2_uc011log.1_Missense_Mutation_p.R139K|UBAP2_uc003ztr.2_Missense_Mutation_p.R65K NM_018449 NP_060919 Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 140 ovary(3) 3 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) ATTGCCGCCTCTTCCTTTCCG 0.323 NA 61 217 0 0 0.00361 0 0 TLN1 7094 broad.mit.edu 37 9 35707125 35707125 + Silent SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr9:35707125C>A uc003zxt.2 - 37 5253 c.4899G>T c.(4897-4899)CTG>CTT p.L1633L NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 1633 Interaction with SYNM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) AGTGGCCGGCCAGCACCGACC 0.592 NA 157 56 3.42498e-63 5.32775e-63 0.00361 1 0 MSMP 692094 broad.mit.edu 37 9 35753749 35753749 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr9:35753749C>T uc003zyb.1 - 2 293 c.147G>A c.(145-147)GAG>GAA p.E49E NM_001044264 NP_001037729 Q1L6U9 MSMP_HUMAN PC3-secreted microprotein precursor 49 extracellular region 0 AATATTTCCCCTCATAGTGAC 0.537 NA 33 15 0 0 0.012213 0 0 FAM75A6 389730 broad.mit.edu 37 9 43628679 43628679 + Missense_Mutation SNP G G C rs2491538 TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr9:43628679G>C uc011lrb.1 - 3 292 c.263C>G c.(262-264)CCG>CGG p.P88R NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 88 integral to membrane 0 CAGGCCTCTCGGGCACTCTCT 0.582 NA 6 250 0 0 0.00308 0 0 PRUNE2 158471 broad.mit.edu 37 9 79325435 79325435 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr9:79325435C>G uc010mpk.2 - 8 1879 c.1755G>C c.(1753-1755)TTG>TTC p.L585F NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 585 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 CTGTCAGGCTCAAATTTCTTT 0.438 NA 66 28 0 0 0.00361 0 0 Unknown 0 broad.mit.edu 37 9 84676980 84676980 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr9:84676980C>A uc010mpu.1 - 1 25 c.22G>T c.(22-24)GAC>TAC p.D8Y NM_001164339 NP_001157811 hypothetical protein LOC404770 NA AACGCCCAGTCCCTGGCCCAC 0.627 NA 36 19 6.97489e-18 8.7075e-18 0.004878 1 0 ROR2 4920 broad.mit.edu 37 9 94499775 94499775 + Missense_Mutation SNP A A T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr9:94499775A>T uc004arj.1 - 5 719 c.520T>A c.(520-522)TGC>AGC p.C174S ROR2_uc004ari.1_Missense_Mutation_p.C34S|ROR2_uc004ark.2_Missense_Mutation_p.C174S NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 174 FZ.|Extracellular (Potential). negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1) 20 TAAGGCTGGCAGAACCCATCC 0.512 NA 79 45 0 0 0.00361 0 0 PPP3R2 5535 broad.mit.edu 37 9 104356939 104356939 + Nonsense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr9:104356939C>A uc004bbr.2 - 1 345 c.274G>T c.(274-276)GAG>TAG p.E92* GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_RNA NM_147180 NP_671709 Q96LZ3 CANB2_HUMAN protein phosphatase 3 regulatory subunit B, beta 89 EF-hand 3. calcium ion binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) AACTTCTGCTCCTCGTCGCCC 0.537 NA 129 60 1.5108e-63 2.35387e-63 0.00361 1 0 KIAA0368 23392 broad.mit.edu 37 9 114135595 114135595 + Silent SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr9:114135595C>A uc004bfe.1 - 41 4803 c.4803G>T c.(4801-4803)CGG>CGT p.R1601R NM_001080398 NP_001073867 KIAA0368 protein 0 TTTAACTCACCCGAACTAAAT 0.388 NA 151 63 1.26598e-50 1.91755e-50 0.00361 1 0 TLR4 7099 broad.mit.edu 37 9 120475527 120475527 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr9:120475527G>C uc004bjz.2 + 3 1412 c.1121G>C c.(1120-1122)AGC>ACC p.S374T TLR4_uc004bka.2_Missense_Mutation_p.S334T|TLR4_uc004bkb.2_Missense_Mutation_p.S174T NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 374 LRR 11.|Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 GATCTACCAAGCCTTGAGTTT 0.388 NA 58 30 0 0 0.00361 0 0 DBC1 1620 broad.mit.edu 37 9 121929747 121929747 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr9:121929747C>A uc004bkc.2 - 8 2357 c.1901G>T c.(1900-1902)GGC>GTC p.G634V NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 634 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 GGGGCCCTGGCCAGTCTCATT 0.542 NA 189 93 3.56531e-90 5.62642e-90 0.00361 1 0 BAT2L1 84726 broad.mit.edu 37 9 134343086 134343086 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr9:134343086G>A uc004can.3 + 12 1912 c.1857G>A c.(1855-1857)AAG>AAA p.K619K BAT2L1_uc010mzj.1_Silent_p.K202K NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 619 Gln-rich. protein binding 0 AGGAGTTCAAGTATCAGAAGT 0.552 NA 55 20 0 0 0.00361 0 0 C9orf171 389799 broad.mit.edu 37 9 135447890 135447890 + Missense_Mutation SNP A A C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr9:135447890A>C uc004cbn.2 + 7 1004 c.956A>C c.(955-957)CAC>CCC p.H319P C9orf171_uc004cbo.2_Missense_Mutation_p.H283P NM_207417 NP_997300 Q6ZQR2 CI171_HUMAN hypothetical protein LOC389799 319 ovary(4)|large_intestine(1) 5 AACTACACCCACCCCTAGCCC 0.597 NA 8 41 0 0 0.00499 0 0 GTF3C4 9329 broad.mit.edu 37 9 135554876 135554876 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr9:135554876G>C uc010mzv.2 + 2 2128 c.1870G>C c.(1870-1872)GAA>CAA p.E624Q GTF3C4_uc010mzw.2_RNA NM_012204 NP_036336 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC 4 624 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) ACAGCAGGAAGAAGGCACTTC 0.537 Pancreas(142;417 1875 11086 31973 47667) NA 77 131 0 0 0.00361 0 0 TMEM8C 389827 broad.mit.edu 37 9 136384097 136384097 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr9:136384097C>A uc011mdk.1 - 3 298 c.298G>T c.(298-300)GGC>TGC p.G100C NM_001080483 NP_001073952 A6NI61 TMM8C_HUMAN transmembrane protein 8C 100 integral to membrane 0 GTCAGGACGCCGAACATCACA 0.607 NA 123 48 1.51339e-41 2.24375e-41 0.00361 1 0 SARDH 1757 broad.mit.edu 37 9 136555519 136555519 + Silent SNP A A G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr9:136555519A>G uc004cep.3 - 16 2186 c.2052T>C c.(2050-2052)AGT>AGC p.S684S SARDH_uc004ceo.2_Silent_p.S684S|SARDH_uc011mdn.1_Silent_p.S684S|SARDH_uc011mdo.1_Silent_p.S516S|SARDH_uc004cen.2_Silent_p.S112S NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 684 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GGCCCTGGATACTGATCATAC 0.647 NA 15 79 0 0 0.003163 0 0 CACNA1B 774 broad.mit.edu 37 9 140866024 140866024 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr9:140866024G>C uc004cog.2 + 11 1668 c.1523G>C c.(1522-1524)CGG>CCG p.R508P CACNA1B_uc011mfd.1_Missense_Mutation_p.R39P NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 508 Extracellular (Potential).|II. membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) AACCAGCCGCGGCGGCTTACC 0.612 NA 27 9 0 0 0.007291 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811608 5811608 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:5811608C>A uc010ndh.2 - 6 2202 c.1701G>T c.(1699-1701)CAG>CAT p.Q567H NLGN4X_uc004crp.2_Missense_Mutation_p.Q587H|NLGN4X_uc004crq.2_Missense_Mutation_p.Q567H|NLGN4X_uc010ndi.2_Missense_Mutation_p.Q604H|NLGN4X_uc004crr.2_Missense_Mutation_p.Q567H|NLGN4X_uc010ndj.2_Missense_Mutation_p.Q567H NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 567 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 GCAGATAGAGCTGGTCTTTGG 0.463 NA 48 50 1.4709e-25 1.991e-25 0.00361 1 0 TLR7 51284 broad.mit.edu 37 X 12904260 12904260 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:12904260G>A uc004cvc.2 + 3 772 c.633G>A c.(631-633)CTG>CTA p.L211L NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN toll-like receptor 7 precursor 211 Extracellular (Potential).|LRR 7. cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity ovary(2)|lung(2)|breast(1) 5 Imiquimod(DB00724) TGCTCTCCCTGAAAGATAACA 0.358 NA 4 55 0 0 0.009096 0 0 TLR8 51311 broad.mit.edu 37 X 12938346 12938346 + Missense_Mutation SNP T T C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:12938346T>C uc004cve.2 + 2 1255 c.1187T>C c.(1186-1188)TTA>TCA p.L396S TLR8_uc004cvd.2_Missense_Mutation_p.L414S NM_138636 NP_619542 Q9NR97 TLR8_HUMAN toll-like receptor 8 precursor 396 Extracellular (Potential).|LRR 11. cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity ovary(4)|lung(2)|large_intestine(1) 7 CTTCCAAACTTATCGACTATC 0.353 NA 59 63 0 0 0.00361 0 0 MAGEB2 4113 broad.mit.edu 37 X 30237251 30237251 + Missense_Mutation SNP A A T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:30237251A>T uc004dbz.2 + 2 657 c.554A>T c.(553-555)GAC>GTC p.D185V NM_002364 NP_002355 O15479 MAGB2_HUMAN melanoma antigen family B, 2 185 MAGE. protein binding ovary(1) 1 GACAAGGTAGACCTCACTGAT 0.502 NA 13 14 0 0 0.001855 0 0 FAM47B 170062 broad.mit.edu 37 X 34961344 34961344 + Silent SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:34961344C>A uc004ddi.1 + 1 414 c.396C>A c.(394-396)GCC>GCA p.A132A NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 132 ovary(3)|breast(1) 4 ATCCCTTGGCCATGTACCCCA 0.557 NA 62 62 3.79397e-19 4.7729e-19 0.00361 1 0 RPGR 6103 broad.mit.edu 37 X 38158228 38158228 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:38158228C>G uc004ded.1 - 10 1394 c.1226G>C c.(1225-1227)CGT>CCT p.R409P RPGR_uc004deb.2_Missense_Mutation_p.R409P|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA|RPGR_uc004dee.1_Missense_Mutation_p.R94P NM_001034853 NP_001030025 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator isoform C 409 intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 TCGCCGCATACGTGCTGATAG 0.378 NA 21 51 0 0 0.003954 0 0 RBM10 8241 broad.mit.edu 37 X 47034417 47034417 + Splice_Site SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:47034417G>C uc004dhf.2 + 6 882 c.503_splice c.e6-1 p.G168_splice RBM10_uc004dhe.1_Intron|RBM10_uc004dhg.2_Splice_Site_p.G91_splice|RBM10_uc004dhh.2_Splice_Site_p.G168_splice|RBM10_uc010nhq.2_Splice_Site_p.G91_splice|RBM10_uc004dhi.2_Splice_Site_p.G233_splice NM_005676 NP_005667 P98175 RBM10_HUMAN RNA binding motif protein 10 isoform 1 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1) 5 GCTGTCTCCAGGTCAGAGCCG 0.532 Melanoma(171;120 2705 19495 39241) NA 24 30 0 0 0.00278 0 0 CACNA1F 778 broad.mit.edu 37 X 49076962 49076962 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:49076962C>T uc004dnb.2 - 19 2451 c.2389G>A c.(2389-2391)GAA>AAA p.E797K CACNA1F_uc010nip.2_Missense_Mutation_p.E786K NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 797 Poly-Glu.|Cytoplasmic (Potential). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) CCCTCCTCTTCCTCTTTCTCC 0.587 NA 5 19 0 0 0.000602 0 0 CCNB3 85417 broad.mit.edu 37 X 50085236 50085236 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:50085236G>T uc004dox.3 + 9 3850 c.3552G>T c.(3550-3552)TTG>TTT p.L1184F CCNB3_uc004doy.2_Missense_Mutation_p.L1184F|CCNB3_uc004doz.2_Missense_Mutation_p.L80F|CCNB3_uc010njq.2_Missense_Mutation_p.L76F|CCNB3_uc004dpa.2_Missense_Mutation_p.L23F NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 1184 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) CCCTGTACTTGGCAGTGAAGC 0.478 NA 63 70 1.85135e-42 2.75733e-42 0.00361 1 0 Unknown 0 broad.mit.edu 37 X 51151342 51151342 + Nonsense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:51151342G>T uc004dpj.2 + 1 1576 c.1474G>T c.(1474-1476)GAG>TAG p.E492* NM_203407 NP_981952 hypothetical protein LOC340602 NA GGCAGAAATAGAGAGCACAGC 0.507 NA 20 36 4.35082e-09 4.84523e-09 0.010504 1 0 PAGE5 90737 broad.mit.edu 37 X 55247847 55247847 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:55247847C>T uc004duj.2 + 2 334 c.92C>T c.(91-93)TCA>TTA p.S31L PAGE5_uc004duk.2_Missense_Mutation_p.S11L NM_130467 NP_569734 Q96GU1 GGEE1_HUMAN P antigen family, member 5 isoform 1 31 0 TCCCAATCCTCAGAAAGAGGA 0.333 NA 3 36 0 0 0.009096 0 0 ZXDA 7789 broad.mit.edu 37 X 57935510 57935510 + Missense_Mutation SNP G G T rs138670514 TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:57935510G>T uc004dve.2 - 1 1558 c.1345C>A c.(1345-1347)CCT>ACT p.P449T NM_007156 NP_009087 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 449 Required for interaction with ZXDC. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 CAAAGGAAAGGTCTCTCGCCG 0.507 NA 6 109 0.000157383 0.000163558 0.00308 1 0 FOXO4 4303 broad.mit.edu 37 X 70320988 70320988 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:70320988G>T uc004dys.1 + 2 1261 c.908G>T c.(907-909)GGT>GTT p.G303V FOXO4_uc010nkz.2_Intron|FOXO4_uc004dyt.1_Missense_Mutation_p.G248V NM_005938 NP_005929 P98177 FOXO4_HUMAN forkhead box O4 303 cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(2)|prostate(1) 3 Renal(35;0.156) CTCAATGAAGGTCTAGAGCTG 0.572 NA OREG0019856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 30 1.22574e-08 1.35121e-08 0.002299 1 0 MED12 9968 broad.mit.edu 37 X 70341631 70341631 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:70341631C>T uc004dyy.2 + 7 1265 c.1066C>T c.(1066-1068)CGG>TGG p.R356W MED12_uc011mpq.1_Missense_Mutation_p.R356W|MED12_uc004dyz.2_Missense_Mutation_p.R356W|MED12_uc004dza.2_Missense_Mutation_p.R203W NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 356 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) CCCTCAGCACCGGCCCCTGGT 0.577 NA 33 46 0 0 0.012213 0 0 NLGN3 54413 broad.mit.edu 37 X 70384145 70384145 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:70384145G>A uc004dzd.1 + 5 1080 c.880G>A c.(880-882)GTC>ATC p.V294I NLGN3_uc010nlb.1_Missense_Mutation_p.V254I|NLGN3_uc004dzb.2_Missense_Mutation_p.V274I|NLGN3_uc004dzc.2_Missense_Mutation_p.V157I|NLGN3_uc011mps.1_Missense_Mutation_p.V254I|NLGN3_uc004dze.2_Missense_Mutation_p.V92I|NLGN3_uc011mpr.1_Missense_Mutation_p.V254I NM_018977 NP_061850 Q9NZ94 NLGN3_HUMAN neuroligin 3 294 Extracellular (Potential). neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity ovary(1) 1 Renal(35;0.156) TGCATCCTGCGTCAGCCTCCT 0.597 Esophageal Squamous(103;760 1488 16849 22250 40351) NA 9 48 0 0 0.006214 0 0 ZDHHC15 158866 broad.mit.edu 37 X 74648925 74648925 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:74648925G>C uc004ecg.2 - 7 1069 c.591C>G c.(589-591)ATC>ATG p.I197M ZDHHC15_uc004ech.2_Missense_Mutation_p.I188M|ZDHHC15_uc011mqo.1_Intron NM_144969 NP_659406 Q96MV8 ZDH15_HUMAN zinc finger, DHHC-type containing 15 isoform 1 197 Helical; (Potential). integral to membrane zinc ion binding ovary(2) 2 TCCAGTATTTGATGAAATAGC 0.388 NA 5 54 0 0 0.000602 0 0 CHM 1121 broad.mit.edu 37 X 85149241 85149241 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:85149241G>A uc004eet.2 - 12 1492 c.1462C>T c.(1462-1464)CGG>TGG p.R488W CHM_uc011mqz.1_Missense_Mutation_p.R340W NM_000390 NP_000381 P24386 RAE1_HUMAN choroideremia isoform a 488 intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity ovary(1) 1 all_lung(315;5.41e-06) TCAATGACCCGAACAGCAAAA 0.378 NA 67 54 0 0 0.00361 0 0 KLHL4 56062 broad.mit.edu 37 X 86919909 86919909 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:86919909G>T uc004efb.2 + 10 2253 c.2071G>T c.(2071-2073)GAT>TAT p.D691Y KLHL4_uc004efa.2_Missense_Mutation_p.D691Y NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 691 Kelch 6. cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 TGAGTCATATGATGCACAGAG 0.333 NA 4 55 2.56e-06 2.72696e-06 0.009096 1 0 TCEAL5 340543 broad.mit.edu 37 X 102529380 102529380 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:102529380C>T uc004ejz.1 - 3 407 c.112G>A c.(112-114)GAG>AAG p.E38K NM_001012979 NP_001012997 Q5H9L2 TCAL5_HUMAN transcription elongation factor A (SII)-like 5 38 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(1)|breast(1) 2 ttttcttcctcgtctgacttt 0.06 NA 5 23 0 0 0.001168 0 0 KIAA1210 57481 broad.mit.edu 37 X 118250488 118250488 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:118250488G>A uc004era.3 - 4 621 c.621C>T c.(619-621)CCC>CCT p.P207P NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 207 ovary(4)|skin(1) 5 TTTCCCGAACGGGCTGCAGAG 0.493 NA 19 21 0 0 0.002299 0 0 MCTS1 28985 broad.mit.edu 37 X 119746095 119746095 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:119746095G>A uc004esx.2 + 6 870 c.522G>A c.(520-522)CTG>CTA p.L174L MCTS1_uc011mub.1_Silent_p.L175L NM_014060 NP_054779 Q9ULC4 MCTS1_HUMAN malignant T cell amplified sequence 1 isoform 1 174 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 ATGATGGGCTGTGGCATATGA 0.353 NA 6 182 0 0 0.001984 0 0 CT47B1 643311 broad.mit.edu 37 X 120008850 120008850 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:120008850C>G uc011muc.1 - 1 930 c.675G>C c.(673-675)GAG>GAC p.E225D NM_001145718 NP_001139190 P0C2W7 CT47B_HUMAN cancer/testis antigen family 147, member B1 225 0 ctgGGGGTTTCTCATCTGCGG 0.557 NA 21 237 0 0 0.008871 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125299101 125299101 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:125299101G>T uc004euk.1 - 1 834 c.807C>A c.(805-807)GCC>GCA p.A269A NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 269 WD 3. lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 TGCCGCTGAAGGCCAGGGCCC 0.637 NA 31 68 1.74807e-11 2.01305e-11 0.010818 1 0 DCAF12L1 139170 broad.mit.edu 37 X 125685659 125685659 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:125685659G>A uc004eul.2 - 1 1184 c.933C>T c.(931-933)TGC>TGT p.C311C NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 311 skin(3)|ovary(1) 4 AGTAGGTCAGGCACACATTAT 0.592 NA 42 72 0 0 0.013114 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685862 125685862 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:125685862G>T uc004eul.2 - 1 981 c.730C>A c.(730-732)CAC>AAC p.H244N NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 244 skin(3)|ovary(1) 4 GGACGGATGTGGGCATATACG 0.652 NA 27 47 1.42536e-11 1.64529e-11 0.004656 1 0 XPNPEP2 7512 broad.mit.edu 37 X 128884515 128884515 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:128884515G>C uc004eut.1 + 8 953 c.709G>C c.(709-711)GTC>CTC p.V237L NM_003399 NP_003390 O43895 XPP2_HUMAN X-prolyl aminopeptidase 2, membrane-bound 237 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 CCCGACTGCCGTCCTTCTGTC 0.597 NA 4 12 0 0 0.009096 0 0 ZDHHC9 51114 broad.mit.edu 37 X 128945380 128945380 + Splice_Site SNP A A C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:128945380A>C uc004euv.2 - 8 1250 c.881_splice c.e8+1 p.S294_splice ZDHHC9_uc004euw.2_Splice_Site_p.S294_splice NM_001008222 NP_001008223 Q9Y397 ZDHC9_HUMAN zinc finger, DHHC domain containing 9 endoplasmic reticulum membrane|Golgi membrane|integral to membrane acyltransferase activity|zinc ion binding ovary(1) 1 TGCCCTGAGCACCTGGGGGGC 0.527 NA 10 78 0 0 0.010729 0 0 BCORL1 63035 broad.mit.edu 37 X 129148236 129148236 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:129148236C>T uc004evb.1 + 4 1602 c.1488C>T c.(1486-1488)TCC>TCT p.S496S BCORL1_uc010nrd.1_Silent_p.S398S NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 496 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 TGCTAGCCTCCCCCGAGCTCC 0.597 NA 47 233 0 0 0.00361 0 0 IGSF1 3547 broad.mit.edu 37 X 130410951 130410951 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:130410951C>A uc004ewd.2 - 14 2808 c.2570G>T c.(2569-2571)TGG>TTG p.W857L IGSF1_uc004ewe.3_Missense_Mutation_p.W851L|IGSF1_uc004ewf.2_Missense_Mutation_p.W837L NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 857 Extracellular (Potential).|Ig-like C2-type 8. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 GGGCTCAGACCAGATAGAAAA 0.567 NA 131 218 2.46087e-49 3.71023e-49 0.00361 1 0 FRMD7 90167 broad.mit.edu 37 X 131234702 131234703 + Missense_Mutation DNP GG GG AT TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:131234702_131234703GG>AT uc004ewn.2 - 2 277_278 c.99_100CC>AT c.(97-102)AGCCAT>AGATAT p.33_34SH>RY FRMD7_uc011muy.1_Missense_Mutation_p.33_34SH>RY NM_194277 NP_919253 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 33_34 FERM. regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) AGATTTAGATGGCTGCAACTCA 0.376 NA 29 80 0 0 0.004672 0 0 SAGE1 55511 broad.mit.edu 37 X 134991835 134991835 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:134991835G>T uc004ezh.2 + 14 1787 c.1620G>T c.(1618-1620)ATG>ATT p.M540I SAGE1_uc010nry.1_Missense_Mutation_p.M509I|SAGE1_uc011mvv.1_Missense_Mutation_p.M164I NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 540 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) AAGAGAGGATGGAAAATAACC 0.418 NA 26 126 1.42536e-11 1.64529e-11 0.004656 1 0 GPR112 139378 broad.mit.edu 37 X 135482067 135482067 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:135482067G>T uc004ezu.1 + 21 8658 c.8367G>T c.(8365-8367)ATG>ATT p.M2789I GPR112_uc010nsb.1_Missense_Mutation_p.M2584I NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 2789 Helical; Name=2; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) CACTACTGATGCTAAACCTGG 0.378 NA 23 107 6.44725e-10 7.3044e-10 0.002299 1 0 ZIC3 7547 broad.mit.edu 37 X 136649403 136649403 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:136649403C>A uc004fak.2 + 1 1058 c.553C>A c.(553-555)CAC>AAC p.H185N NM_003413 NP_003404 O60481 ZIC3_HUMAN zinc finger protein of the cerebellum 3 185 cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) CAACCAGGTCCACCTGGGGCT 0.692 NA 19 75 6.33239e-15 7.59576e-15 0.010504 1 0 MAGEC1 9947 broad.mit.edu 37 X 140993278 140993278 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:140993278G>T uc004fbt.2 + 4 374 c.88G>T c.(88-90)GAC>TAC p.D30Y MAGEC1_uc010nsl.1_5'UTR NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 30 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TGAGGGGGAGGACTCCCAGTC 0.577 NA HNSCC(15;0.026) 71 90 2.69673e-31 3.78083e-31 0.00361 1 0 MAGEC1 9947 broad.mit.edu 37 X 140995410 140995410 + Silent SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:140995410C>T uc004fbt.2 + 4 2506 c.2220C>T c.(2218-2220)CTC>CTT p.L740L MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 740 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) AGTCTTCTCTCCAGAGTCCTG 0.557 NA HNSCC(15;0.026) 142 183 0 0 0.00361 0 0 SLITRK2 84631 broad.mit.edu 37 X 144905168 144905168 + Missense_Mutation SNP A A T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:144905168A>T uc004fcd.2 + 5 2215 c.1225A>T c.(1225-1227)AAC>TAC p.N409Y SLITRK2_uc010nsp.2_Missense_Mutation_p.N409Y|SLITRK2_uc010nso.2_Missense_Mutation_p.N409Y|SLITRK2_uc011mwq.1_Missense_Mutation_p.N409Y|SLITRK2_uc011mwr.1_Missense_Mutation_p.N409Y|SLITRK2_uc011mws.1_Missense_Mutation_p.N409Y|SLITRK2_uc004fcg.2_Missense_Mutation_p.N409Y|SLITRK2_uc011mwt.1_Missense_Mutation_p.N409Y NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 409 Extracellular (Potential).|LRR 8. integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) CTTAGGAAACAACAGGATTGC 0.403 NA 33 175 0 0 0.010818 0 0 SLITRK2 84631 broad.mit.edu 37 X 144905556 144905556 + Missense_Mutation SNP T T G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:144905556T>G uc004fcd.2 + 5 2603 c.1613T>G c.(1612-1614)ATG>AGG p.M538R SLITRK2_uc010nsp.2_Missense_Mutation_p.M538R|SLITRK2_uc010nso.2_Missense_Mutation_p.M538R|SLITRK2_uc011mwq.1_Missense_Mutation_p.M538R|SLITRK2_uc011mwr.1_Missense_Mutation_p.M538R|SLITRK2_uc011mws.1_Missense_Mutation_p.M538R|SLITRK2_uc004fcg.2_Missense_Mutation_p.M538R|SLITRK2_uc011mwt.1_Missense_Mutation_p.M538R NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 538 Extracellular (Potential).|LRRCT 2. integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) TGTGACATCATGGGGCTGAAA 0.493 NA 20 109 0 0 0.010504 0 0 SLITRK2 84631 broad.mit.edu 37 X 144905908 144905908 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:144905908G>A uc004fcd.2 + 5 2955 c.1965G>A c.(1963-1965)AGG>AGA p.R655R SLITRK2_uc010nsp.2_Silent_p.R655R|SLITRK2_uc010nso.2_Silent_p.R655R|SLITRK2_uc011mwq.1_Silent_p.R655R|SLITRK2_uc011mwr.1_Silent_p.R655R|SLITRK2_uc011mws.1_Silent_p.R655R|SLITRK2_uc004fcg.2_Silent_p.R655R|SLITRK2_uc011mwt.1_Silent_p.R655R NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 655 Cytoplasmic (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) GCGTTCCCAGGAATACCAACA 0.438 NA 17 139 0 0 0.006122 0 0 FMR1 2332 broad.mit.edu 37 X 147014083 147014083 + Missense_Mutation SNP A A T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:147014083A>T uc010nst.2 + 8 959 c.770A>T c.(769-771)GAA>GTA p.E257V FMR1_uc011mwz.1_Missense_Mutation_p.E257V|FMR1_uc004fcj.2_Missense_Mutation_p.E257V|FMR1_uc004fck.3_Missense_Mutation_p.E257V|FMR1_uc004fcl.3_Missense_Mutation_p.E118V|FMR1_uc011mxa.1_5'UTR NM_002024 NP_002015 Q06787 FMR1_HUMAN fragile X mental retardation 1 257 mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GATCTAGATGAAGATACCTGC 0.363 NA Fragile_X_syndrome 37 166 0 0 0.004878 0 0 AFF2 2334 broad.mit.edu 37 X 148035225 148035225 + Missense_Mutation SNP A A T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:148035225A>T uc004fcp.2 + 10 1992 c.1513A>T c.(1513-1515)ACT>TCT p.T505S AFF2_uc004fcq.2_Missense_Mutation_p.T495S|AFF2_uc004fcr.2_Missense_Mutation_p.T466S|AFF2_uc011mxb.1_Missense_Mutation_p.T470S|AFF2_uc004fcs.2_Missense_Mutation_p.T472S|AFF2_uc011mxc.1_Missense_Mutation_p.T146S NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 505 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) AAGTAGCACCACTGACAGCGA 0.602 NA 9 207 0 0 0.004482 0 0 MAMLD1 10046 broad.mit.edu 37 X 149638404 149638404 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:149638404C>G uc004fee.1 + 3 635 c.559C>G c.(559-561)CAA>GAA p.Q187E MAMLD1_uc011mxt.1_Missense_Mutation_p.Q149E|MAMLD1_uc011mxu.1_Missense_Mutation_p.Q162E|MAMLD1_uc011mxv.1_Missense_Mutation_p.Q162E|MAMLD1_uc011mxw.1_Missense_Mutation_p.Q114E NM_005491 NP_005482 Q13495 MAMD1_HUMAN mastermind-like domain containing 1 187 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(192;6.56e-05) CACCAAAATTCAAGACCCTTC 0.502 NA 27 170 0 0 0.005443 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303180 151303180 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:151303180C>T uc004ffk.2 - 5 1321 c.913G>A c.(913-915)GAA>AAA p.E305K MAGEA10_uc004ffl.2_Missense_Mutation_p.E305K NM_001011543 NP_001011543 P43363 MAGAA_HUMAN melanoma antigen family A, 10 305 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) TTCCTAATTTCAGCATGAGCC 0.502 NA 15 222 0 0 0.003163 0 0 MAGEA6 4105 broad.mit.edu 37 X 151869911 151869911 + Missense_Mutation SNP T T C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:151869911T>C uc004ffq.1 + 3 795 c.601T>C c.(601-603)TTC>CTC p.F201L MAGEA6_uc004ffr.1_Missense_Mutation_p.F201L|MAGEA2_uc010nto.2_Intron NM_005363 NP_005354 P43360 MAGA6_HUMAN melanoma antigen family A, 6 201 MAGE. protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05) CAAGACAGGCTTCCTGATAAT 0.557 NA 112 161 0 0 0.00361 0 0 CSAG1 158511 broad.mit.edu 37 X 151908883 151908883 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:151908883G>A uc004fge.2 + 4 450 c.122G>A c.(121-123)CGA>CAA p.R41Q CSAG1_uc004fgf.2_Missense_Mutation_p.R41Q|CSAG1_uc004fgd.2_RNA NM_153478 NP_705611 Q6PB30 CSAG1_HUMAN chondrosarcoma associated gene 1 precursor 41 ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) AGGAAACCACGAGCCTCCAGC 0.527 NA 41 347 0 0 0.007835 0 0 OPN1LW 5956 broad.mit.edu 37 X 153420159 153420159 + Missense_Mutation SNP T T C rs148583295 byFrequency TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:153420159T>C uc004fjz.3 + 4 722 c.689T>C c.(688-690)ATC>ACC p.I230T NM_020061 NP_064445 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 230 Helical; Name=5; (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity 0 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGCTGCATCATCCCACTCGCT 0.612 NA 71 322 0 0 0.00361 0 0 FLNA 2316 broad.mit.edu 37 X 153590628 153590628 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrX:153590628G>T uc004fkk.2 - 18 2887 c.2638C>A c.(2638-2640)CCT>ACT p.P880T FLNA_uc010nuu.1_Missense_Mutation_p.P880T NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 880 Filamin 7. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTGAGGCCAGGGCCCTCGGCC 0.652 NA 17 106 3.51602e-12 4.09714e-12 0.008871 1 0 NLGN4Y 22829 broad.mit.edu 37 Y 16952392 16952392 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chrY:16952392G>T uc004ftg.2 + 6 1953 c.1701G>T c.(1699-1701)CAG>CAT p.Q567H NLGN4Y_uc004fte.2_Missense_Mutation_p.Q399H|NLGN4Y_uc011nas.1_Missense_Mutation_p.Q587H|NLGN4Y_uc004ftf.2_Missense_Mutation_p.Q260H|NLGN4Y_uc004fth.2_Missense_Mutation_p.Q567H NM_014893 NP_055708 Q8NFZ3 NLGNY_HUMAN neuroligin 4, Y-linked isoform 1 567 Extracellular (Potential). brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|integral to plasma membrane|synapse neurexin binding|receptor activity 0 CCAAAGACCAGCTCTATCTGC 0.453 NA 17 11 1.77063e-15 2.15823e-15 0.005443 1 0 LRRIQ3 127255 broad.mit.edu 37 1 74575176 74575177 + Frame_Shift_Ins INS - - T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:74575176_74575177insT uc001dfy.3 - 5 960_961 c.768_769insA c.(766-771)AAATGGfs p.K256fs LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 256_257 ovary(2) 2 ATGTAAATCCATTTTGCTTCAT 0.322 NA 41 79 --- --- --- --- NA NA NA NA NA FAM189B 10712 broad.mit.edu 37 1 155220573 155220573 + Frame_Shift_Del DEL C C - rs76634237 TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:155220573delC uc001fjm.2 - 9 1610 c.1004delG c.(1003-1005)GGTfs p.G335fs RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_Frame_Shift_Del_p.G137fs|FAM189B_uc001fjn.2_Frame_Shift_Del_p.G239fs|FAM189B_uc001fjo.2_Frame_Shift_Del_p.G317fs|FAM189B_uc001fjp.2_Intron NM_006589 NP_006580 P81408 F189B_HUMAN hypothetical protein LOC10712 isoform a 335 integral to membrane WW domain binding ovary(1)|breast(1) 2 AGGGAGGTCACCAATGGCTGA 0.672 NA OREG0013858 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 29 --- --- --- --- NA NA NA NA NA AVPR1B 553 broad.mit.edu 37 1 206224768 206224771 + Frame_Shift_Del DEL GTCA GTCA - TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 GTCA GTCA - - GTCA GTCA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr1:206224768_206224771delGTCA uc001hds.2 + 1 486_489 c.328_331delGTCA c.(328-333)GTCAAGfs p.V110fs NM_000707 NP_000698 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 110_111 Helical; Name=3; (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity ovary(2)|large_intestine(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) GTGCAGGGCCGTCAAGTACCTGCA 0.647 NA 19 82 --- --- --- --- NA NA NA NA NA NELL1 4745 broad.mit.edu 37 11 20949981 20949981 + Frame_Shift_Del DEL C C - TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr11:20949981delC uc001mqe.2 + 9 1106 c.953delC c.(952-954)TCCfs p.S318fs NELL1_uc001mqf.2_Frame_Shift_Del_p.S318fs|NELL1_uc009yid.2_Frame_Shift_Del_p.S346fs|NELL1_uc010rdo.1_Frame_Shift_Del_p.S261fs|NELL1_uc010rdp.1_Frame_Shift_Del_p.S78fs NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 318 VWFC 1. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 TCCCCAGACTCCCTCCCAGTG 0.502 NA 31 71 --- --- --- --- NA NA NA NA NA CD19 930 broad.mit.edu 37 16 28950038 28950039 + Frame_Shift_Ins INS - - C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:28950038_28950039insC uc002drs.2 + 13 1590_1591 c.1528_1529insC c.(1528-1530)GCCfs p.A510fs uc010vct.1_Intron|CD19_uc010byo.1_Frame_Shift_Ins_p.A511fs NM_001770 NP_001761 P15391 CD19_HUMAN CD19 antigen precursor 510 Cytoplasmic (Potential). cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity ovary(2)|central_nervous_system(1) 3 CCTGTATGCAGCCCCCCAGCTC 0.609 NA 62 93 --- --- --- --- NA NA NA NA NA ITGAX 3687 broad.mit.edu 37 16 31374335 31374335 + Frame_Shift_Del DEL C C - TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:31374335delC uc002ebu.1 + 13 1506 c.1439delC c.(1438-1440)GCCfs p.A480fs ITGAX_uc002ebt.2_Frame_Shift_Del_p.A480fs|ITGAX_uc010vfk.1_Frame_Shift_Del_p.A130fs NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 480 FG-GAP 5.|Extracellular (Potential). A -> P (in Ref. 2; AAA51620). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CTCATCGGGGCCCCCCATTAC 0.677 NA 85 132 --- --- --- --- NA NA NA NA NA ADCY7 113 broad.mit.edu 37 16 50324508 50324508 + Frame_Shift_Del DEL G G - TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr16:50324508delG uc002egd.1 + 2 580 c.312delG c.(310-312)TTGfs p.L104fs ADCY7_uc002egb.1_Frame_Shift_Del_p.L104fs|ADCY7_uc002egc.1_Frame_Shift_Del_p.L104fs NM_001114 NP_001105 P51828 ADCY7_HUMAN adenylate cyclase 7 104 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding skin(1) 1 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) GGGCCTGCTTGGTGGCGCTGG 0.647 NA 41 24 --- --- --- --- NA NA NA NA NA KRT10 3858 broad.mit.edu 37 17 38978766 38978768 + In_Frame_Del DEL TCC TCC - TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 TCC TCC - - TCC TCC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr17:38978766_38978768delTCC uc002hvi.2 - 1 96_98 c.70_72delGGA c.(70-72)GGAdel p.G24del KRT10_uc010cxd.2_5'Flank|TMEM99_uc002hvj.1_Intron NM_000421 NP_000412 P13645 K1C10_HUMAN keratin 10 24 Head.|Gly-rich. Missing (in Ref. 1; AAA60544). epidermis development protein binding|structural constituent of epidermis 0 Breast(137;0.000301) ctcctccacatcctcctcctcct 0.409 NA 7 64 --- --- --- --- NA NA NA NA NA NPHS1 4868 broad.mit.edu 37 19 36342440 36342440 + Frame_Shift_Del DEL C C - TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr19:36342440delC uc002oby.2 - 2 193 c.193delG c.(193-195)GCCfs p.A65fs NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 65 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCATCTTTGGCCCATTGCACC 0.667 NA 46 66 --- --- --- --- NA NA NA NA NA SOS1 6654 broad.mit.edu 37 2 39213243 39213243 + Frame_Shift_Del DEL T T - TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:39213243delT uc002rrk.3 - 23 3765 c.3724delA c.(3724-3726)AGTfs p.S1242fs SOS1_uc002rrj.3_Frame_Shift_Del_p.S841fs NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 1242 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) CCATGGTCACTTTTTTTGCCC 0.517 NA Noonan_syndrome 7 254 --- --- --- --- NA NA NA NA NA LRP1B 53353 broad.mit.edu 37 2 141660521 141660522 + Frame_Shift_Ins INS - - G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:141660521_141660522insG uc002tvj.1 - 23 4705_4706 c.3733_3734insC c.(3733-3735)CTGfs p.L1245fs LRP1B_uc010fnl.1_Frame_Shift_Ins_p.L427fs NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1245 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTCTACATCCAGCTTCCAACCT 0.371 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 10 114 --- --- --- --- NA NA NA NA NA XIRP2 129446 broad.mit.edu 37 2 168099354 168099354 + Frame_Shift_Del DEL C C - TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr2:168099354delC uc002udx.2 + 8 1470 c.1452delC c.(1450-1452)GTCfs p.V484fs XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Frame_Shift_Del_p.V309fs|XIRP2_uc010fpq.2_Frame_Shift_Del_p.V262fs|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 309 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GACTACCAGTCCCCAAAGATG 0.388 NA 77 49 --- --- --- --- NA NA NA NA NA TMC2 117532 broad.mit.edu 37 20 2539151 2539151 + Frame_Shift_Del DEL G G - TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr20:2539151delG uc002wgf.1 + 3 147 c.132delG c.(130-132)GAGfs p.E44fs TMC2_uc002wgg.1_Frame_Shift_Del_p.E28fs|TMC2_uc010zpw.1_5'UTR|TMC2_uc010zpx.1_5'UTR NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 44 Arg/Asp/Glu/Lys-rich (highly charged).|Cytoplasmic (Potential). integral to membrane ovary(3) 3 TCAAAGCCGAGGGGACCCCAG 0.682 NA 4 5 --- --- --- --- NA NA NA NA NA ATR 545 broad.mit.edu 37 3 142279124 142279124 + Frame_Shift_Del DEL A A - TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr3:142279124delA uc003eux.3 - 6 1644 c.1522delT c.(1522-1524)TCTfs p.S508fs NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 508 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 TTTTGATGAGAACAATGAACA 0.368 NA Other_conserved_DNA_damage_response_genes 38 73 --- --- --- --- NA NA NA NA NA CDH9 1007 broad.mit.edu 37 5 26915767 26915768 + Frame_Shift_Del DEL GT GT - TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 GT GT - - GT GT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:26915767_26915768delGT uc003jgs.1 - 3 662_663 c.493_494delAC c.(493-495)ACTfs p.T165fs CDH9_uc010iug.2_Frame_Shift_Del_p.T165fs NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 165 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 AACACTGGCAGTGTATAAGTCT 0.351 Melanoma(8;187 585 15745 40864 52829) NA 46 161 --- --- --- --- NA NA NA NA NA ISL1 3670 broad.mit.edu 37 5 50685513 50685513 + Frame_Shift_Del DEL G G - TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:50685513delG uc003jor.2 + 4 1060 c.512delG c.(511-513)CGGfs p.R171fs NM_002202 NP_002193 P61371 ISL1_HUMAN islet-1 171 generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 Lung NSC(810;0.000845)|Breast(144;0.0411) CCAGCCCTGCGGCCCCACGTC 0.597 NA 19 40 --- --- --- --- NA NA NA NA NA ADAMTS19 171019 broad.mit.edu 37 5 129072886 129072886 + Frame_Shift_Del DEL C C - TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:129072886delC uc003kvb.1 + 23 3599 c.3599delC c.(3598-3600)GCCfs p.A1200fs ADAMTS19_uc010jdh.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 1200 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GACTTCTATGCCCAAAAGCTG 0.473 NA 10 30 --- --- --- --- NA NA NA NA NA FNIP1 96459 broad.mit.edu 37 5 131007363 131007364 + Frame_Shift_Ins INS - - T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:131007363_131007364insT uc003kvs.1 - 14 2915_2916 c.2773_2774insA c.(2773-2775)ATTfs p.I925fs RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Frame_Shift_Ins_p.I897fs|FNIP1_uc010jdm.1_Frame_Shift_Ins_p.I880fs NM_133372 NP_588613 Q8TF40 FNIP1_HUMAN folliculin interacting protein 1 isoform 1 925 regulation of protein phosphorylation cytoplasm protein binding pancreas(1)|skin(1) 2 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) TCCTACAGCAATTTTTTTATCT 0.421 NA 29 114 --- --- --- --- NA NA NA NA NA DOCK2 1794 broad.mit.edu 37 5 169267840 169267840 + Frame_Shift_Del DEL G G - TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr5:169267840delG uc003maf.2 + 27 2863 c.2783delG c.(2782-2784)CGGfs p.R928fs DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Frame_Shift_Del_p.R420fs NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 928 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACCATGGGCCGGGATCACATT 0.453 NA 14 58 --- --- --- --- NA NA NA NA NA OR2J3 442186 broad.mit.edu 37 6 29080009 29080010 + Frame_Shift_Del DEL GT GT - TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 GT GT - - GT GT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:29080009_29080010delGT uc011dll.1 + 1 342_343 c.342_343delGT c.(340-345)GAGTGTfs p.E114fs NM_001005216 NP_001005216 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, 114_115 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GAACCACAGAGTGTGTCCTACT 0.51 NA 178 584 --- --- --- --- NA NA NA NA NA TTBK1 84630 broad.mit.edu 37 6 43251532 43251532 + Frame_Shift_Del DEL G G - TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr6:43251532delG uc003ouq.1 + 14 3333 c.3054delG c.(3052-3054)CCGfs p.P1018fs NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 1018 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CCAATGGCCCGGCCCTTGCAG 0.667 NA 14 118 --- --- --- --- NA NA NA NA NA PRDM12 59335 broad.mit.edu 37 9 133543701 133543702 + Splice_Site DEL GT GT - TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 GT GT - - GT GT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 386c643d-476f-4d19-ab4b-2f33371f90ec 945fa648-2f7f-4447-83cb-18b2d40dbe3f g.chr9:133543701_133543702delGT uc004bzt.1 + 3 630 c.570_splice c.e3+1 p.E190_splice NM_021619 NP_067632 Q9H4Q4 PRD12_HUMAN PR domain containing 12 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534) OV - Ovarian serous cystadenocarcinoma(145;0.000344) GGCCATTGAGGTGTGTGTGTGT 0.594 NA 8 114 --- --- --- --- NA NA NA NA NA