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 MTOR 2475 broad.mit.edu 37 1 11308080 11308080 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:11308080C>A uc001asd.2 - 7 1033 c.912G>T c.(910-912)ATG>ATT p.M304I NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 304 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 TTCCGAAGCCCATGAGATCTT 0.488 NA 16 122 1.5739e-10 2.58705e-10 0.004007 1 0 PRAMEF2 65122 broad.mit.edu 37 1 12918928 12918928 + Missense_Mutation SNP G G C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:12918928G>C uc001aum.1 + 2 151 c.64G>C c.(64-66)GCC>CCC p.A22P NM_023014 NP_075390 O60811 PRAM2_HUMAN PRAME family member 2 22 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAGAGACCAGGCCTTGTCCAT 0.567 NA 11 86 0 0 0.010729 0 0 PADI2 11240 broad.mit.edu 37 1 17410262 17410262 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:17410262C>A uc001baf.2 - 9 1091 c.1009G>T c.(1009-1011)GTC>TTC p.V337F PADI2_uc010ocm.1_Missense_Mutation_p.V221F|PADI2_uc001bag.1_Missense_Mutation_p.V337F NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 337 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) TGGAAGCAGACCTTCAGCTCA 0.532 NA 10 80 7.03913e-09 1.08665e-08 0.013537 1 0 UBR4 23352 broad.mit.edu 37 1 19449430 19449430 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:19449430C>A uc001bbi.2 - 66 9717 c.9713G>T c.(9712-9714)CGT>CTT p.R3238L UBR4_uc001bbk.1_Missense_Mutation_p.R885L NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3238 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) CTTGATCCCACGCACGTGAGA 0.547 NA 13 54 0.00316338 0.00354788 0.003163 1 0 HSPG2 3339 broad.mit.edu 37 1 22222444 22222444 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:22222444C>A uc001bfj.2 - 3 255 c.215G>T c.(214-216)GGG>GTG p.G72V HSPG2_uc009vqd.2_Missense_Mutation_p.G72V|HSPG2_uc009vqe.1_Missense_Mutation_p.G27V NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 72 angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GCCCAGGTCCCCACTGCCCAG 0.433 NA 6 34 0.00198382 0.00223731 0.001984 1 0 PTAFR 5724 broad.mit.edu 37 1 28477276 28477276 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:28477276G>T uc001bpl.2 - 2 384 c.257C>A c.(256-258)CCC>CAC p.P86H PTAFR_uc001bpm.3_Missense_Mutation_p.P86H|PTAFR_uc009vte.2_Missense_Mutation_p.P86H NM_000952 NP_000943 P25105 PTAFR_HUMAN platelet-activating factor receptor 86 Extracellular (Potential). chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity 0 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) CAGGAATTTGGGGAGTATCCA 0.507 NA 4 43 1.024e-07 1.51731e-07 0.000602 1 0 PUM1 9698 broad.mit.edu 37 1 31426788 31426788 + Silent SNP A A G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:31426788A>G uc001bsi.1 - 15 2477 c.2364T>C c.(2362-2364)GCT>GCC p.A788A PUM1_uc001bsf.1_Silent_p.A454A|PUM1_uc001bsg.1_Silent_p.A522A|PUM1_uc001bsh.1_Silent_p.A788A|PUM1_uc001bsj.1_Silent_p.A762A|PUM1_uc010oga.1_Silent_p.A644A|PUM1_uc001bsk.1_Silent_p.A824A|PUM1_uc010ogb.1_Silent_p.A729A NM_014676 NP_055491 Q14671 PUM1_HUMAN pumilio 1 isoform 2 788 Ser-rich. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) CAGCGCCTGGAGCAGCAGAGA 0.507 NA 15 107 0 0 0.003163 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33959006 33959006 + Missense_Mutation SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:33959006C>T uc001bxj.3 + 7 1831 c.1664C>T c.(1663-1665)CCA>CTA p.P555L ZSCAN20_uc009vui.2_Missense_Mutation_p.P554L NM_145238 NP_660281 P17040 ZSC20_HUMAN zinc finger protein 31 555 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) AGCAGCCACCCACCAGGGACA 0.602 NA 4 69 0 0 0.009096 0 0 SLFNL1 200172 broad.mit.edu 37 1 41486066 41486066 + Silent SNP C C G rs148645268 TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:41486066C>G uc001cgm.1 - 2 487 c.267G>C c.(265-267)CCG>CCC p.P89P SLFNL1_uc009vwf.1_Silent_p.P89P|SLFNL1_uc001cgn.1_Silent_p.P89P|SLFNL1_uc009vwg.1_Silent_p.P89P NM_144990 NP_659427 Q499Z3 SLNL1_HUMAN schlafen-like 1 89 ATP binding skin(1) 1 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0393) AGGCCTTCCGCGGCCGCCTCA 0.672 NA 8 55 0 0 0.00308 0 0 INSL5 10022 broad.mit.edu 37 1 67263820 67263820 + Missense_Mutation SNP C C A rs144286383 TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:67263820C>A uc001dcw.2 - 2 319 c.284G>T c.(283-285)GGT>GTT p.G95V NM_005478 NP_005469 Q9Y5Q6 INSL5_HUMAN insulin-like 5 precursor 95 extracellular region hormone activity 0 CATCTGTCCACCCCAAAGACG 0.478 NA 11 76 5.16669e-11 8.70404e-11 0.010729 1 0 LRRIQ3 127255 broad.mit.edu 37 1 74507107 74507107 + Missense_Mutation SNP A A T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:74507107A>T uc001dfy.3 - 7 1700 c.1508T>A c.(1507-1509)CTG>CAG p.L503Q LRRIQ3_uc001dfz.3_Intron NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 503 ovary(2) 2 TTTTAGAAACAGAGCTTTTCT 0.333 NA 20 163 0 0 0.008871 0 0 RABGGTB 5876 broad.mit.edu 37 1 76253183 76253183 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:76253183G>T uc001dgy.1 + 2 76 c.5G>T c.(4-6)GGC>GTC p.G2V RABGGTB_uc009wbt.1_RNA|RABGGTB_uc001dha.1_5'UTR|SNORD45A_uc009wbu.1_5'Flank|SNORD45B_uc009wbv.1_5'Flank NM_004582 NP_004573 P53611 PGTB2_HUMAN RAB geranylgeranyltransferase, beta subunit 2 protein modification process|visual perception metal ion binding|protein binding|Rab geranylgeranyltransferase activity ovary(1) 1 TTTTGAAAGGGCACTCCACAG 0.378 NA 25 69 6.32553e-13 1.16735e-12 0.004656 1 0 CLCA1 1179 broad.mit.edu 37 1 86951077 86951077 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:86951077C>A uc001dlt.2 + 6 916 c.787C>A c.(787-789)CAA>AAA p.Q263K CLCA1_uc001dls.1_Missense_Mutation_p.Q202K NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN chloride channel accessory 1 precursor 263 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity ovary(1) 1 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) TCCAAACAAGCAAAATCAAAA 0.373 NA 17 70 1.56452e-12 2.78595e-12 0.007413 1 0 LPPR4 9890 broad.mit.edu 37 1 99771542 99771542 + Missense_Mutation SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:99771542C>T uc001dse.2 + 7 1374 c.1268C>T c.(1267-1269)CCA>CTA p.P423L LPPR4_uc010oue.1_Missense_Mutation_p.P365L NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 423 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) GCCAATACCCCATCTGTAGAA 0.483 NA 6 43 0 0 0.001984 0 0 KCNA2 3737 broad.mit.edu 37 1 111146095 111146095 + Missense_Mutation SNP T T G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:111146095T>G uc001dzu.2 - 2 1806 c.1310A>C c.(1309-1311)AAG>ACG p.K437T KCNA2_uc009wfv.1_Intron|KCNA2_uc009wfw.2_Missense_Mutation_p.K437T NM_004974 NP_004965 P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related 437 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(1) 1 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) GGATGGGATCTTTGGACAGCT 0.463 Pancreas(18;568 735 10587 23710 36357) NA 27 106 0 0 0.00632 0 0 HIPK1 204851 broad.mit.edu 37 1 114505013 114505013 + Missense_Mutation SNP G G C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:114505013G>C uc001eem.2 + 9 2217 c.2056G>C c.(2056-2058)GCA>CCA p.A686P HIPK1_uc001eel.2_Missense_Mutation_p.A686P|HIPK1_uc001een.2_Missense_Mutation_p.A686P|HIPK1_uc001eeo.2_Missense_Mutation_p.A312P|HIPK1_uc001eep.2_Missense_Mutation_p.A292P|HIPK1_uc001eeq.2_5'Flank NM_198268 NP_938009 Q86Z02 HIPK1_HUMAN homeodomain-interacting protein kinase 1 isoform 686 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity ovary(4) 4 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TGTACCCCAGGCACCAGCTGC 0.443 NA 13 48 0 0 0.013537 0 0 PIP5K1A 8394 broad.mit.edu 37 1 151219439 151219439 + Missense_Mutation SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:151219439C>T uc001exj.2 + 15 2136 c.1684C>T c.(1684-1686)CAT>TAT p.H562Y PIP5K1A_uc001exi.2_Missense_Mutation_p.H549Y|PIP5K1A_uc010pcu.1_Missense_Mutation_p.H522Y|PIP5K1A_uc001exk.2_Missense_Mutation_p.H500Y|PIP5K1A_uc010pcv.1_Silent_p.P226P NM_001135638 NP_001129110 Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 562 phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) AGAGTTCACCCATGTGAGTAT 0.408 Pancreas(80;36 1443 2325 16095 21302) NA 17 98 0 0 0.007413 0 0 SPRR3 6707 broad.mit.edu 37 1 152975939 152975939 + Missense_Mutation SNP A A T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:152975939A>T uc001fax.3 + 3 593 c.443A>T c.(442-444)AAG>ATG p.K148M SPRR3_uc001faz.3_Missense_Mutation_p.K148M|SPRR3_uc001fay.2_Missense_Mutation_p.K140M NM_005416 NP_005407 Q9UBC9 SPRR3_HUMAN small proline-rich protein 3 148 14 X 8 AA approximate tandem repeats.|14. keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity skin(1) 1 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) GGCTACACAAAGCTACCAGAG 0.517 NA 8 21 0 0 0.00308 0 0 OR10T2 128360 broad.mit.edu 37 1 158368884 158368884 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:158368884C>A uc010pih.1 - 1 373 c.373G>T c.(373-375)GTA>TTA p.V125L NM_001004475 NP_001004475 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, 125 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_hematologic(112;0.0378) CAAATTGCTACATAGCGATCA 0.473 NA 25 93 5.45024e-15 1.04872e-14 0.00333 1 0 SPTA1 6708 broad.mit.edu 37 1 158592830 158592830 + Silent SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:158592830C>A uc001fst.1 - 43 6262 c.6063G>T c.(6061-6063)CTG>CTT p.L2021L NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2021 Spectrin 19. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CCGAGGCTTCCAGCAACTGTT 0.468 NA 55 261 1.46156e-29 3.07457e-29 0.01441 1 0 PBX1 5087 broad.mit.edu 37 1 164789369 164789369 + Missense_Mutation SNP T T G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:164789369T>G uc001gct.2 + 7 1316 c.1058T>G c.(1057-1059)CTC>CGC p.L353R PBX1_uc010pku.1_Missense_Mutation_p.L353R|PBX1_uc010pkv.1_Missense_Mutation_p.L270R|PBX1_uc001gcs.2_Intron|PBX1_uc010pkw.1_Missense_Mutation_p.L243R NM_002585 NP_002576 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 353 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) soft_tissue(3)|lung(1)|skin(1) 5 GTGCAGTCACTCAATGGGGAT 0.488 NA T TCF3|EWSR1 pre B-ALL|myoepithelioma 6 76 0 0 0.001168 0 0 SELL 6402 broad.mit.edu 37 1 169670773 169670773 + Missense_Mutation SNP G G A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:169670773G>A uc001ggk.2 - 7 1207 c.1009C>T c.(1009-1011)CCA>TCA p.P337S C1orf112_uc001ggj.2_Intron|SELL_uc010pls.1_Missense_Mutation_p.P290S|SELL_uc001ggl.1_Missense_Mutation_p.P350S NM_000655 NP_000646 P14151 LYAM1_HUMAN selectin L precursor 337 Helical; (Potential). blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding 0 all_hematologic(923;0.208) ACTGCCACTGGAATGAAGAGG 0.403 NA 4 11 0 0 0.009096 0 0 SLC9A11 284525 broad.mit.edu 37 1 173493226 173493226 + Missense_Mutation SNP A A G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:173493226A>G uc001giz.2 - 21 2945 c.2522T>C c.(2521-2523)CTT>CCT p.L841P SLC9A11_uc009wwe.2_Missense_Mutation_p.L399P NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 841 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 TAATTTTTTAAGAAGTACCTA 0.234 NA 11 55 0 0 0.001855 0 0 KIAA1614 57710 broad.mit.edu 37 1 180886014 180886014 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:180886014C>A uc001gok.2 + 2 842 c.775C>A c.(775-777)CTG>ATG p.L259M NM_020950 NP_066001 Q5VZ46 K1614_HUMAN hypothetical protein LOC57710 259 ovary(3)|skin(1) 4 TAGCACATCCCTGACCTCCGA 0.582 NA 32 156 3.03874e-20 6.10757e-20 0.003271 1 0 DHX9 1660 broad.mit.edu 37 1 182827319 182827319 + Missense_Mutation SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:182827319C>T uc001gpr.2 + 8 917 c.754C>T c.(754-756)CAT>TAT p.H252Y DHX9_uc001gps.2_Missense_Mutation_p.H38Y NM_001357 NP_001348 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 9 252 Interaction with BRCA1.|DRBM 2. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding ovary(2) 2 ACAACTGTACCATCTTGGAGT 0.418 Colon(69;210 1162 3697 13559 39565) NA 16 84 0 0 0.00499 0 0 ASPM 259266 broad.mit.edu 37 1 197112663 197112663 + Missense_Mutation SNP G G A rs140646088 TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:197112663G>A uc001gtu.2 - 3 976 c.719C>T c.(718-720)TCT>TTT p.S240F ASPM_uc001gtv.2_Missense_Mutation_p.S240F|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 240 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TCGACGTACAGAGAGTGGCAA 0.363 NA 27 136 0 0 0.00632 0 0 KIF21B 23046 broad.mit.edu 37 1 200960046 200960046 + Silent SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:200960046G>T uc001gvs.1 - 18 3003 c.2686C>A c.(2686-2688)CGA>AGA p.R896R KIF21B_uc001gvr.1_Silent_p.R896R|KIF21B_uc009wzl.1_Silent_p.R896R|KIF21B_uc010ppn.1_Silent_p.R896R NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 896 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 CCACCTTACCGGGCAGGACGG 0.647 NA 12 44 2.80697e-09 4.40012e-09 0.010729 1 0 PRELP 5549 broad.mit.edu 37 1 203453067 203453067 + Missense_Mutation SNP A A G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:203453067A>G uc001gzs.2 + 2 955 c.755A>G c.(754-756)AAC>AGC p.N252S PRELP_uc001gzt.2_Missense_Mutation_p.N252S NM_002725 NP_002716 P51888 PRELP_HUMAN proline arginine-rich end leucine-rich repeat 252 LRR 7. skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent ovary(1)|central_nervous_system(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.109) CTGGACAGTAACAAGATTGAG 0.532 NA 18 106 0 0 0.008871 0 0 FAM71A 149647 broad.mit.edu 37 1 212798394 212798394 + Missense_Mutation SNP G G A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:212798394G>A uc001hjk.2 + 1 579 c.175G>A c.(175-177)GTG>ATG p.V59M uc010pth.1_Intron NM_153606 NP_705834 Q8IYT1 FA71A_HUMAN hypothetical protein LOC149647 59 skin(3)|ovary(1)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) AAGGGGAGAAGTGATTGATGT 0.522 NA 14 69 0 0 0.00499 0 0 KCNK2 3776 broad.mit.edu 37 1 215408346 215408346 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:215408346G>T uc001hkq.2 + 7 1308 c.1139G>T c.(1138-1140)TGT>TTT p.C380F KCNK2_uc001hko.2_Missense_Mutation_p.C376F|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.C365F NM_001017425 NP_001017425 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 isoform 380 Cytoplasmic (Potential).|Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity). outward rectifier potassium channel activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) CTGACTCCTTGTAGGAGGACC 0.532 NA 7 42 8.12818e-05 9.76344e-05 0.001984 1 0 USH2A 7399 broad.mit.edu 37 1 216424377 216424377 + Missense_Mutation SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:216424377C>T uc001hku.1 - 12 2422 c.2035G>A c.(2035-2037)GGA>AGA p.G679R USH2A_uc001hkv.2_Missense_Mutation_p.G679R NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 679 Extracellular (Potential).|Laminin EGF-like 3. 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) TTGTAGAATCCATTCTGGCAC 0.438 NA HNSCC(13;0.011) 11 51 0 0 0.008291 0 0 TGFB2 7042 broad.mit.edu 37 1 218607527 218607527 + Missense_Mutation SNP A A T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:218607527A>T uc001hlm.2 + 3 1267 c.614A>T c.(613-615)GAT>GTT p.D205V TGFB2_uc001hln.2_Missense_Mutation_p.D233V|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA NM_003238 NP_003229 P61812 TGFB2_HUMAN transforming growth factor, beta 2 isoform 2 205 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding 0 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) GATGTAACTGATGCTGTTCAT 0.423 NA 27 125 0 0 0.003954 0 0 RAB4A 5867 broad.mit.edu 37 1 229438646 229438646 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:229438646G>T uc001hth.2 + 7 787 c.579G>T c.(577-579)CAG>CAT p.Q193H RAB4A_uc001hti.2_RNA|RAB4A_uc001htj.2_RNA|SPHAR_uc001htk.3_5'Flank NM_004578 NP_004569 P20338 RAB4A_HUMAN RAB4A, member RAS oncogene family 188 GDP binding|GTP binding|GTPase activity ovary(1) 1 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.178) CAGGTATTCAGTACGGAGATG 0.502 Esophageal Squamous(11;250 603 9619 16563) NA 15 77 1.52009e-12 2.74292e-12 0.003163 1 0 LYST 1130 broad.mit.edu 37 1 235918893 235918893 + Nonsense_Mutation SNP T T A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:235918893T>A uc001hxj.2 - 25 7289 c.7114A>T c.(7114-7116)AAG>TAG p.K2372* LYST_uc009xga.1_5'Flank NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 2372 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) CCACGATTCTTCAGAAATTTA 0.308 NA Chediak-Higashsyndrome 57 251 0 0 0.01441 0 0 OR2L3 391192 broad.mit.edu 37 1 248224588 248224588 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:248224588C>A uc001idx.1 + 1 605 c.605C>A c.(604-606)ACC>AAC p.T202N OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 202 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TTTTTGAGCACCACCATCTTT 0.488 NA 14 108 1.5842e-08 2.40893e-08 0.001855 1 0 OR2M7 391196 broad.mit.edu 37 1 248487473 248487473 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr1:248487473G>T uc010pzk.1 - 1 398 c.398C>A c.(397-399)ACC>AAC p.T133N NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 133 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 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) CATGAGATTGGTGTATCTTAG 0.433 NA 36 178 3.76114e-14 7.10242e-14 0.004289 1 0 TUBB8 347688 broad.mit.edu 37 10 93408 93408 + Silent SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr10:93408G>T uc001ifi.2 - 4 924 c.924C>A c.(922-924)GGC>GGA p.G308G TUBB8_uc009xhe.2_Silent_p.G271G|TUBB8_uc010pzs.1_Silent_p.G236G NM_177987 NP_817124 Q3ZCM7 TBB8_HUMAN tubulin, beta 8 isoform 1 308 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) TTAGGTAGCGGCCGTGACGGG 0.552 Pancreas(192;2041 3010 9013 18103) NA 31 94 6.68952e-21 1.35122e-20 0.013114 1 0 ALOX5 240 broad.mit.edu 37 10 45877968 45877968 + Missense_Mutation SNP G G C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr10:45877968G>C uc001jce.2 + 2 287 c.188G>C c.(187-189)GGC>GCC p.G63A ALOX5_uc009xmt.2_Missense_Mutation_p.G63A|ALOX5_uc010qfg.1_Missense_Mutation_p.G63A NM_000698 NP_000689 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 63 PLAT. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding ovary(1)|pancreas(1) 2 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) GAGGAACTGGGCGAGATCCAG 0.527 NA 7 27 0 0 0.00308 0 0 NRG3 10718 broad.mit.edu 37 10 84745264 84745264 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr10:84745264C>A uc001kco.2 + 9 2021 c.1994C>A c.(1993-1995)ACA>AAA p.T665K NRG3_uc010qlz.1_Missense_Mutation_p.T664K|NRG3_uc001kcp.2_Missense_Mutation_p.T468K|NRG3_uc001kcq.2_Missense_Mutation_p.T315K|NRG3_uc001kcr.2_Missense_Mutation_p.T339K NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 689 Cytoplasmic (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) AGCGAAAACACAGCCTTTCTC 0.488 NA 8 47 0.000157383 0.000186835 0.00308 1 0 BMPR1A 657 broad.mit.edu 37 10 88681386 88681386 + Missense_Mutation SNP A A G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr10:88681386A>G uc001kdy.2 + 11 1824 c.1276A>G c.(1276-1278)ATC>GTC p.I426V BMPR1A_uc001kdz.2_5'Flank NM_004329 NP_004320 P36894 BMR1A_HUMAN bone morphogenetic protein receptor, type IA 426 Cytoplasmic (Potential).|Protein kinase. BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway integral to membrane|plasma membrane ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity lung(3)|large_intestine(1)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 8 CCAGCCCTACATCATGGCTGA 0.488 Ovarian(190;603 2086 22044 30335 47971) NA Mis|N|F gastrointestinal polyps Hereditary_Mixed_Polyposis_syndrome_type_2|Juvenile_Polyposis 19 120 0 0 0.010504 0 0 FAS 355 broad.mit.edu 37 10 90768652 90768652 + Missense_Mutation SNP A A T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr10:90768652A>T uc001kfr.2 + 4 687 c.341A>T c.(340-342)GAA>GTA p.E114V FAS_uc010qna.1_RNA|FAS_uc001kfs.2_Missense_Mutation_p.E114V|FAS_uc001kft.2_Missense_Mutation_p.E114V|FAS_uc010qnb.1_Intron|FAS_uc010qnc.1_Intron|FAS_uc001kfw.2_Intron|FAS_uc010qnd.1_Intron|FAS_uc010qne.1_Intron|FAS_uc009xtp.2_RNA NM_000043 NP_000034 P25445 TNR6_HUMAN tumor necrosis factor receptor superfamily, 114 Extracellular (Potential).|TNFR-Cys 2. activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death cytosol|extracellular region|integral to membrane|soluble fraction identical protein binding|kinase binding upper_aerodigestive_tract(1)|breast(1) 2 Colorectal(252;0.0161) Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193) CTAGGCTTAGAAGTGGAAATA 0.408 NA Autoimmune_Lymphoproliferative_syndrome_type_I 57 340 0 0 0.01441 0 0 ENTPD1 953 broad.mit.edu 37 10 97583120 97583120 + Missense_Mutation SNP A A T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr10:97583120A>T uc001klh.3 + 2 467 c.143A>T c.(142-144)AAG>ATG p.K48M ENTPD1_uc001kle.1_Missense_Mutation_p.K55M|ENTPD1_uc001kli.3_Missense_Mutation_p.K55M|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Missense_Mutation_p.K60M|ENTPD1_uc010qok.1_Intron|ENTPD1_uc010qol.1_Intron|ENTPD1_uc010qom.1_Missense_Mutation_p.K48M|ENTPD1_uc010qon.1_Translation_Start_Site|ENTPD1_uc009xva.2_Translation_Start_Site|ENTPD1_uc009xuz.2_RNA NM_001776 NP_001767 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 48 Extracellular (Potential). cell adhesion integral to plasma membrane ATP binding ovary(3) 3 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) GAAAACGTTAAGGTAAGTCAA 0.458 NA 11 56 0 0 0.010729 0 0 SLIT1 6585 broad.mit.edu 37 10 98778813 98778813 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr10:98778813G>T uc001kmw.2 - 27 3050 c.2798C>A c.(2797-2799)CCG>CAG p.P933Q NM_003061 NP_003052 O75093 SLIT1_HUMAN slit homolog 1 precursor 933 EGF-like 1. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding ovary(4) 4 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GTTCTGGCACGGACTGGACAA 0.463 NA 5 21 1.23904e-05 1.59193e-05 0.000602 1 0 SLIT1 6585 broad.mit.edu 37 10 98799743 98799743 + Splice_Site SNP A A T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr10:98799743A>T uc001kmw.2 - 21 2549 c.2297_splice c.e21+1 p.L766_splice SLIT1_uc009xvh.1_Splice_Site_p.L776_splice NM_003061 NP_003052 O75093 SLIT1_HUMAN slit homolog 1 precursor axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding ovary(4) 4 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) TGAGCTACTCACAGTTCTGTG 0.642 NA 8 43 0 0 0.006214 0 0 RRP12 23223 broad.mit.edu 37 10 99144970 99144970 + Silent SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr10:99144970C>A uc001knf.2 - 10 1300 c.1161G>T c.(1159-1161)CTG>CTT p.L387L RRP12_uc009xvm.2_Silent_p.L105L|RRP12_uc010qou.1_Silent_p.L326L|RRP12_uc009xvn.2_Silent_p.L287L NM_015179 NP_055994 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog isoform 1 387 integral to membrane|nuclear membrane|nucleolus protein binding ovary(2)|central_nervous_system(1) 3 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) GCCAGGCTAGCAGGGGTTGTA 0.537 NA 18 97 3.62473e-10 5.91021e-10 0.012319 1 0 COL17A1 1308 broad.mit.edu 37 10 105794442 105794442 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr10:105794442G>T uc001kxr.2 - 51 3872 c.3703C>A c.(3703-3705)CTG>ATG p.L1235M COL17A1_uc001kxq.2_5'Flank NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN alpha 1 type XVII collagen 1235 Extracellular (Potential).|Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding ovary(4)|pancreas(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TAGGTTGCCAGGGCTCCTGAG 0.652 NA 6 16 5.9392e-07 8.4018e-07 0.001168 1 0 C10orf79 80217 broad.mit.edu 37 10 105952008 105952008 + Missense_Mutation SNP A A G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr10:105952008A>G uc001kxw.2 - 12 1611 c.1495T>C c.(1495-1497)TTT>CTT p.F499L C10orf79_uc001kxx.3_Missense_Mutation_p.F500L NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 499 WD 8. 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) TTGATAATAAAGACTTTTCCT 0.318 NA 10 84 0 0 0.004007 0 0 SORCS1 114815 broad.mit.edu 37 10 108448049 108448049 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr10:108448049G>T uc001kym.2 - 10 1469 c.1461C>A c.(1459-1461)AAC>AAA p.N487K SORCS1_uc001kyl.2_Missense_Mutation_p.N487K|SORCS1_uc009xxs.2_Missense_Mutation_p.N487K|SORCS1_uc001kyn.1_Missense_Mutation_p.N487K|SORCS1_uc001kyo.2_Missense_Mutation_p.N487K NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 487 Lumenal (Potential). N -> Y (in Ref. 1; AAL56667). 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) TCTTCACTTGGTTGTCAATCT 0.463 NA 10 88 9.70103e-10 1.55677e-09 0.008291 1 0 NRAP 4892 broad.mit.edu 37 10 115383307 115383307 + Missense_Mutation SNP T T C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr10:115383307T>C uc001laj.2 - 23 2602 c.2438A>G c.(2437-2439)AAG>AGG p.K813R NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.K778R|NRAP_uc001lal.3_Missense_Mutation_p.K813R NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 813 Nebulin 20. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CAGGtccctcttggctttggc 0.358 NA 12 73 0 0 0.013537 0 0 TRUB1 142940 broad.mit.edu 37 10 116698036 116698036 + Silent SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr10:116698036G>T uc001lcd.2 + 1 85 c.24G>T c.(22-24)GTG>GTT p.V8V TRUB1_uc010qsl.1_Intron NM_139169 NP_631908 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase homolog 1 8 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding 0 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) AGGCGGCGGTGGTGTCTTCGC 0.587 NA 3 27 6.4e-05 7.87568e-05 0.004672 1 0 DHX32 55760 broad.mit.edu 37 10 127530320 127530320 + Missense_Mutation SNP A A C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr10:127530320A>C uc001ljf.1 - 7 2026 c.1535T>G c.(1534-1536)ATG>AGG p.M512R BCCIP_uc001ljd.3_Intron|DHX32_uc001lje.1_Missense_Mutation_p.M136R|DHX32_uc001ljg.1_Missense_Mutation_p.M512R|BCCIP_uc001ljc.3_3'UTR|BCCIP_uc010quj.1_3'UTR NM_018180 NP_060650 Q7L7V1 DHX32_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32 512 mitochondrion|nucleus ATP binding|helicase activity breast(2)|ovary(1)|lung(1) 4 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) ACCTGTTACCATGGCTGCGAT 0.378 NA 11 69 0 0 0.010729 0 0 TCERG1L 256536 broad.mit.edu 37 10 132891506 132891506 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr10:132891506C>A uc001lkp.2 - 12 1766 c.1680G>T c.(1678-1680)CAG>CAT p.Q560H NM_174937 NP_777597 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 560 FF 2. large_intestine(2)|ovary(2) 4 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) AAAAATGCTCCTGGTCCTTTC 0.398 NA 20 86 1.87028e-06 2.53111e-06 0.012319 1 0 Unknown 0 broad.mit.edu 37 10 134664738 134664738 + Silent SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr10:134664738C>T uc010qux.1 - 32 4824 c.4824G>A c.(4822-4824)CTG>CTA p.L1608L NM_017609 NP_060079 Homo sapiens cDNA, FLJ17989. NA GGAGCATGTCCAGAGCCATTT 0.612 NA 7 28 0 0 0.001984 0 0 B4GALNT4 338707 broad.mit.edu 37 11 379988 379988 + Nonsense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr11:379988G>T uc001lpb.2 + 16 2620 c.2611G>T c.(2611-2613)GAG>TAG p.E871* NM_178537 NP_848632 Q76KP1 B4GN4_HUMAN beta 871 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) TATGGACGTGGAGCGGGCCCT 0.682 NA 6 40 1.06961e-07 1.57342e-07 0.00308 1 0 MUC2 4583 broad.mit.edu 37 11 1084795 1084795 + Missense_Mutation SNP G G A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr11:1084795G>A uc001lsx.1 + 20 2617 c.2590G>A c.(2590-2592)GGG>AGG p.G864R NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 864 VWFD 3. inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|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;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CTCCATTTACGGGAGTGGCCA 0.597 NA 3 7 0 0 0.004672 0 0 OR52E2 119678 broad.mit.edu 37 11 5080580 5080580 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr11:5080580C>A uc010qyw.1 - 1 278 c.278G>T c.(277-279)GGG>GTG p.G93V NM_001005164 NP_001005164 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, 93 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) AAAGATGATCCCTCTGAGGTT 0.483 NA 6 12 3.59834e-05 4.49515e-05 0.001168 1 0 OR51M1 390059 broad.mit.edu 37 11 5410856 5410856 + Silent SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr11:5410856C>A uc010qzc.1 + 1 228 c.228C>A c.(226-228)TCC>TCA p.S76S HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, 76 integral to membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATCTACTATCCTTGCTGGCCC 0.468 NA 22 90 7.45023e-12 1.29265e-11 0.010504 1 0 OR51I2 390064 broad.mit.edu 37 11 5475122 5475122 + Missense_Mutation SNP T T A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr11:5475122T>A uc010qzf.1 + 1 404 c.404T>A c.(403-405)GTG>GAG p.V135E HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004754 NP_001004754 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, 135 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) TATGCAACTGTGCTCACCACT 0.473 NA 21 103 0 0 0.014323 0 0 UBQLN3 50613 broad.mit.edu 37 11 5530683 5530683 + Missense_Mutation SNP A A T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr11:5530683A>T uc001may.1 - 2 192 c.106T>A c.(106-108)TCA>ACA p.S36T HBG2_uc001mak.1_Intron NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 36 Ubiquitin-like. 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) TCTGTAACTGAGAAATCCTCC 0.522 Ovarian(72;684 1260 12332 41642 52180) NA 17 80 0 0 0.010504 0 0 OR52B6 340980 broad.mit.edu 37 11 5603032 5603032 + Missense_Mutation SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr11:5603032C>T uc010qzi.1 + 1 926 c.926C>T c.(925-927)CCC>CTC p.P309L HBG2_uc001mak.1_Intron NM_001005162 NP_001005162 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, 309 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGCTCAATCCCGTTATTTAT 0.438 NA 25 127 0 0 0.003954 0 0 OR52N4 390072 broad.mit.edu 37 11 5776693 5776693 + Silent SNP T T C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr11:5776693T>C uc001mbu.2 + 1 771 c.723T>C c.(721-723)AAT>AAC p.N241N TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, 241 Helical; Name=6; (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;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) AGGCCTTTAATACCTGCACTG 0.493 NA 15 138 0 0 0.00245 0 0 PTPN5 84867 broad.mit.edu 37 11 18765712 18765712 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr11:18765712G>T uc001mpd.2 - 4 563 c.132C>A c.(130-132)GAC>GAA p.D44E PTPN5_uc001mpb.2_Missense_Mutation_p.D44E|PTPN5_uc001mpc.2_Missense_Mutation_p.D44E|PTPN5_uc001mpe.2_Missense_Mutation_p.D44E|PTPN5_uc010rdj.1_Missense_Mutation_p.D20E|PTPN5_uc001mpf.2_Missense_Mutation_p.D20E|PTPN5_uc010rdk.1_Intron NM_006906 NP_008837 P54829 PTN5_HUMAN protein-tyrosine-phosphatase non-receptor 5 44 integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity ovary(2) 2 CTTCAGCCTCGTCCAGTGCCT 0.672 NA 24 124 1.85244e-09 2.93786e-09 0.00333 1 0 ANO3 63982 broad.mit.edu 37 11 26669345 26669345 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr11:26669345C>A uc001mqt.3 + 24 2663 c.2518C>A c.(2518-2520)CGT>AGT p.R840S ANO3_uc010rdr.1_Missense_Mutation_p.R824S|ANO3_uc010rds.1_Missense_Mutation_p.R679S|ANO3_uc010rdt.1_Missense_Mutation_p.R694S NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 840 Extracellular (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TTACATCCCACGTTTTGTTTA 0.348 NA 13 61 0.00010058 0.000119752 0.013537 1 0 PAMR1 25891 broad.mit.edu 37 11 35515796 35515796 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr11:35515796C>A uc001mwg.2 - 2 141 c.98G>T c.(97-99)TGC>TTC p.C33F PAMR1_uc001mwf.2_Missense_Mutation_p.C33F|PAMR1_uc010rew.1_Missense_Mutation_p.C33F|PAMR1_uc010rex.1_5'UTR NM_001001991 NP_001001991 Q6UXH9 PAMR1_HUMAN regeneration associated muscle protease isoform 33 proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 TGCTCCAGGGCAGGCTTCATT 0.458 NA 14 60 6.94344e-10 1.12312e-09 0.006122 1 0 DGKZ 8525 broad.mit.edu 37 11 46398736 46398736 + Silent SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr11:46398736C>T uc001ncn.1 + 26 3005 c.2880C>T c.(2878-2880)CCC>CCT p.P960P DGKZ_uc001nch.1_Silent_p.P788P|DGKZ_uc010rgq.1_Silent_p.P715P|DGKZ_uc001ncj.1_Silent_p.P738P|DGKZ_uc010rgr.1_Silent_p.P737P|DGKZ_uc001nck.1_Silent_p.P550P|DGKZ_uc001ncl.2_Silent_p.P772P|DGKZ_uc001ncm.2_Silent_p.P771P|DGKZ_uc009yky.1_Silent_p.P772P|DGKZ_uc010rgs.1_Silent_p.P749P NM_001105540 NP_001099010 Q13574 DGKZ_HUMAN diacylglycerol kinase zeta isoform 4 960 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding pancreas(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) CCCCTCTCCCCACCTCACCCT 0.478 NA 6 18 0 0 0.001984 0 0 OR5L2 26338 broad.mit.edu 37 11 55595244 55595244 + Missense_Mutation SNP C C A rs142870159 TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr11:55595244C>A uc001nhy.1 + 1 550 c.550C>A c.(550-552)CTC>ATC p.L184I NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 184 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) TCTACCCCCTCTCCTAAGTCT 0.463 NA HNSCC(27;0.073) 29 200 2.70662e-09 4.25926e-09 0.009535 1 0 OR10AG1 282770 broad.mit.edu 37 11 55735507 55735507 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr11:55735507G>T uc010rit.1 - 1 433 c.433C>A c.(433-435)CCT>ACT p.P145T NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 145 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) ATTACTACAGGAATTGTGATG 0.418 NA 9 54 1.12685e-05 1.47107e-05 0.004482 1 0 OR8H2 390151 broad.mit.edu 37 11 55873077 55873077 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr11:55873077C>A uc010riy.1 + 1 559 c.559C>A c.(559-561)CTG>ATG p.L187M NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 187 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) AATTTTAGCTCTGTCCTGCAC 0.403 NA HNSCC(53;0.14) 36 187 2.87052e-16 5.60303e-16 0.005524 1 0 SERPING1 710 broad.mit.edu 37 11 57381888 57381888 + Missense_Mutation SNP T T A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr11:57381888T>A uc001nkp.1 + 8 1528 c.1337T>A c.(1336-1338)GTG>GAG p.V446E SERPING1_uc001nkq.1_Missense_Mutation_p.V409E|SERPING1_uc010rju.1_Missense_Mutation_p.V394E|SERPING1_uc010rjv.1_Missense_Mutation_p.V451E|SERPING1_uc001nkr.1_Missense_Mutation_p.V446E|SERPING1_uc009ymi.1_Missense_Mutation_p.V455E|SERPING1_uc009ymj.1_3'UTR|SERPING1_uc001nks.1_Missense_Mutation_p.V137E NM_000062 NP_000053 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G, member 1 446 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1) 1 CACCAGACAGTGCTGGAACTG 0.557 NA Hereditary_Angioedema 9 49 0 0 0.004482 0 0 MS4A4A 51338 broad.mit.edu 37 11 60073661 60073661 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr11:60073661G>T uc001noz.2 + 6 645 c.635G>T c.(634-636)TGT>TTT p.C212F MS4A4A_uc001npa.2_Missense_Mutation_p.C193F|MS4A4A_uc001npb.2_Missense_Mutation_p.C193F|MS4A4A_uc001npc.2_Missense_Mutation_p.C140F NM_148975 NP_683876 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 212 Cytoplasmic (Potential). integral to membrane receptor activity 0 GTGCTCTGTTGTACCCCTGGT 0.358 NA 12 83 7.93312e-07 1.09927e-06 0.00245 1 0 PACS1 55690 broad.mit.edu 37 11 65988115 65988115 + Missense_Mutation SNP T T C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr11:65988115T>C uc001oha.1 + 9 1186 c.1052T>C c.(1051-1053)CTG>CCG p.L351P NM_018026 NP_060496 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 351 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding ovary(6) 6 GGCTTTGGGCTGGAGCATGTG 0.527 NA 6 44 0 0 0.001984 0 0 ALDH3B2 222 broad.mit.edu 37 11 67432013 67432013 + Missense_Mutation SNP C C G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr11:67432013C>G uc001omr.2 - 8 1166 c.727G>C c.(727-729)GTG>CTG p.V243L ALDH3B2_uc001oms.2_Missense_Mutation_p.V243L|ALDH3B2_uc009ysa.1_Missense_Mutation_p.V243L NM_000695 NP_000686 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3B2 243 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase lung(1)|kidney(1) 2 NADH(DB00157) GTCTCCTGCACGTCCACCAGC 0.662 NA 8 31 0 0 0.00308 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74876920 74876920 + Missense_Mutation SNP T T A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr11:74876920T>A uc001owb.2 + 4 761 c.374T>A c.(373-375)GTG>GAG p.V125E SLCO2B1_uc010rrq.1_Intron|SLCO2B1_uc010rrr.1_Intron|SLCO2B1_uc010rrs.1_Missense_Mutation_p.V9E|SLCO2B1_uc001owc.2_Missense_Mutation_p.V9E|SLCO2B1_uc001owd.2_Missense_Mutation_p.V103E NM_007256 NP_009187 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, 125 Helical; Name=3; (Potential). sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity ovary(1)|breast(1) 2 Ergoloid mesylate(DB01049) GCTATCCTTGTGGCCCTGGCG 0.592 NA 25 113 0 0 0.003954 0 0 RAB38 23682 broad.mit.edu 37 11 87847169 87847169 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr11:87847169C>A uc001pcj.1 - 3 670 c.623G>T c.(622-624)TGT>TTT p.C208F NM_022337 NP_071732 P57729 RAB38_HUMAN RAB38 208 Not methylated. protein transport|small GTPase mediated signal transduction melanosome|plasma membrane GTP binding|GTPase activity upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GGATTTGGCACAGCCAGAGCA 0.473 NA 19 93 6.49762e-13 1.18297e-12 0.006122 1 0 GRM5 2915 broad.mit.edu 37 11 88300971 88300971 + Missense_Mutation SNP A A T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr11:88300971A>T uc001pcq.2 - 7 2080 c.1880T>A c.(1879-1881)CTG>CAG p.L627Q GRM5_uc009yvm.2_Missense_Mutation_p.L627Q NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 627 Helical; Name=2; (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) TAAGTAGCCCAGGCAGATGCC 0.473 NA 6 26 0 0 0.00308 0 0 FAM55D 54827 broad.mit.edu 37 11 114453728 114453728 + Missense_Mutation SNP T T A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr11:114453728T>A uc001ppc.2 - 3 293 c.112A>T c.(112-114)AAC>TAC p.N38Y FAM55D_uc001ppd.2_5'UTR NM_001077639 NP_001071107 Q6UWF7 FA55D_HUMAN hypothetical protein LOC54827 isoform 1 38 extracellular region ovary(2)|skin(2) 4 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938) ATGGATAAGTTTAGAGCAGAC 0.388 NA 7 163 0 0 0.001984 0 0 PHLDB1 23187 broad.mit.edu 37 11 118498623 118498623 + Missense_Mutation SNP A A T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr11:118498623A>T uc001ptr.1 + 7 1437 c.1084A>T c.(1084-1086)AGC>TGC p.S362C PHLDB1_uc010ryh.1_Missense_Mutation_p.S361C|PHLDB1_uc001pts.2_Missense_Mutation_p.S362C|PHLDB1_uc001ptt.2_Missense_Mutation_p.S362C|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Missense_Mutation_p.S162C|PHLDB1_uc001ptw.1_5'Flank NM_015157 NP_055972 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, 362 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) GGTGGCCATCAGCCTGAGTGA 0.627 NA 13 33 0 0 0.013537 0 0 SC5DL 6309 broad.mit.edu 37 11 121177914 121177914 + Missense_Mutation SNP A A T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr11:121177914A>T uc001pxu.2 + 5 741 c.593A>T c.(592-594)TAC>TTC p.Y198F SC5DL_uc001pxt.2_3'UTR|SC5DL_uc001pxv.2_Missense_Mutation_p.Y198F NM_006918 NP_008849 O75845 SC5D_HUMAN sterol-C5-desaturase 198 Helical; (Potential). fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity ovary(1) 1 Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) OV - Ovarian serous cystadenocarcinoma(1;0.0334) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144) TTAAGTCTGTACATCTTGGTT 0.378 NA 6 166 0 0 0.001984 0 0 SCN3B 55800 broad.mit.edu 37 11 123513202 123513202 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr11:123513202G>T uc001pza.1 - 4 804 c.397C>A c.(397-399)CCC>ACC p.P133T SCN3B_uc001pzb.1_Missense_Mutation_p.P133T NM_001040151 NP_001035241 Q9NY72 SCN3B_HUMAN voltage-gated sodium channel beta-3 subunit 133 Ig-like C2-type.|Extracellular (Potential). axon guidance integral to membrane|plasma membrane voltage-gated sodium channel activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227) TTCACAAAGGGCCGATGCGCC 0.597 NA 16 33 6.72482e-11 1.11897e-10 0.003163 1 0 PDE3A 5139 broad.mit.edu 37 12 20522824 20522824 + Silent SNP A A T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr12:20522824A>T uc001reh.1 + 1 628 c.606A>T c.(604-606)ACA>ACT p.T202T NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 202 Helical; (Potential). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CCGCCGCGACATGGCTGGTGC 0.652 NA 4 23 0 0 0.000602 0 0 GOLT1B 51026 broad.mit.edu 37 12 21661496 21661496 + Splice_Site SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr12:21661496G>T uc001rez.2 + 3 455 c.296_splice c.e3+1 p.R99_splice GOLT1B_uc009zis.2_Splice_Site|GOLT1B_uc009zit.2_Splice_Site|GOLT1B_uc009ziu.2_Intron NM_016072 NP_057156 Q9Y3E0 GOT1B_HUMAN golgi transport 1 homolog B positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport endoplasmic reticulum|Golgi membrane|integral to membrane signal transducer activity 0 TCTTGTTCAGGTAAGGCATAT 0.353 NA 12 86 6.40141e-05 7.87568e-05 0.010729 1 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr12:25398284C>A uc001rgp.1 - 2 216 c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 7 19 0.00198382 0.00223731 0.001984 1 0 CNTN1 1272 broad.mit.edu 37 12 41327516 41327516 + Missense_Mutation SNP G G C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr12:41327516G>C uc001rmm.1 + 9 934 c.821G>C c.(820-822)CGA>CCA p.R274P CNTN1_uc009zjy.1_Missense_Mutation_p.R274P|CNTN1_uc001rmn.1_Missense_Mutation_p.R263P|CNTN1_uc001rmo.2_Missense_Mutation_p.R274P NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 274 Ig-like C2-type 3. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) CCGGATATCCGATGGCGGAAG 0.373 NA 26 109 0 0 0.00632 0 0 ACVR1B 91 broad.mit.edu 37 12 52377917 52377917 + Missense_Mutation SNP G G A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr12:52377917G>A uc001rzn.2 + 5 988 c.946G>A c.(946-948)GCA>ACA p.A316T ACVR1B_uc001rzl.2_Missense_Mutation_p.A316T|ACVR1B_uc001rzm.2_Missense_Mutation_p.A316T|ACVR1B_uc010snn.1_Missense_Mutation_p.A357T NM_004302 NP_004293 P36896 ACV1B_HUMAN activin A receptor, type IB isoform a precursor 316 Protein kinase.|Cytoplasmic (Potential). G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1) 9 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) TAGTGGGCTGGCACACCTGCA 0.542 NA 4 25 0 0 0.000602 0 0 KRT77 374454 broad.mit.edu 37 12 53096691 53096691 + Silent SNP G G A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr12:53096691G>A uc001saw.2 - 1 557 c.528C>T c.(526-528)GCC>GCT p.A176A KRT77_uc009zmi.2_5'UTR NM_175078 NP_778253 Q7Z794 K2C1B_HUMAN keratin 77 176 Coil 1A.|Rod. keratin filament structural molecule activity ovary(1) 1 caatgaaggaggcaaacttgt 0.318 NA 10 106 0 0 0.008291 0 0 INHBE 83729 broad.mit.edu 37 12 57850274 57850274 + Silent SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr12:57850274G>T uc001snw.2 + 2 920 c.696G>T c.(694-696)CGG>CGT p.R232R NM_031479 NP_113667 P58166 INHBE_HUMAN activin beta E precursor 232 growth extracellular region growth factor activity|hormone activity breast(2)|central_nervous_system(1) 3 GAGCAGGCCGGGCCAGGAGGA 0.607 GBM(191;1808 2166 15720 36624 50371) NA OREG0021944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 75 1.52009e-12 2.74292e-12 0.003163 1 0 HMGA2 8091 broad.mit.edu 37 12 66221815 66221815 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr12:66221815G>T uc001ssx.2 + 2 957 c.146G>T c.(145-147)AGG>ATG p.R49M RPSAP52_uc001sso.2_5'Flank|HMGA2_uc001ssw.1_Missense_Mutation_p.R49M|HMGA2_uc001ssp.1_RNA|HMGA2_uc010ssv.1_RNA|HMGA2_uc001sss.1_RNA|HMGA2_uc001sst.1_Missense_Mutation_p.R49M|HMGA2_uc001ssu.1_Missense_Mutation_p.R49M|HMGA2_uc001ssv.2_Missense_Mutation_p.R49M NM_003483 NP_003474 P52926 HMGA2_HUMAN high mobility group AT-hook 2 isoform a 49 A.T hook 2.|Interaction with E4F1. cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent chromatin AT DNA binding HMGA2/LPP(161)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/RAD51B(11)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/CCNB1IP1(2)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/COX6C(2) soft_tissue(159)|bone(27)|salivary_gland(22) 208 all_cancers(1;5.78e-46) GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156) GBM - Glioblastoma multiforme(28;0.0386) AAGAGACCCAGGGGAAGACCC 0.448 NA T LHFP|RAD51L1|LPP|HEI10|COX6C|CMKOR1|NFIB|ALDH2|CCNB1IP1|EBF1|WIF1|FHIT lipoma|leiomyoma|pleiomorphic salivary gland adenoma 7 35 0.00621372 0.00681829 0.006214 1 0 GLIPR1 11010 broad.mit.edu 37 12 75875626 75875626 + Missense_Mutation SNP G G C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr12:75875626G>C uc001sxs.2 + 2 335 c.187G>C c.(187-189)GCA>CCA p.A63P GLIPR1_uc009zsb.1_Missense_Mutation_p.A63P NM_006851 NP_006842 P48060 GLIP1_HUMAN GLI pathogenesis-related 1 precursor 63 cellular lipid metabolic process extracellular region|integral to membrane large_intestine(1)|ovary(1)|skin(1) 3 TTGGGACCCAGCACTAGCCCA 0.453 NA 28 171 0 0 0.010818 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85518290 85518290 + Nonsense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr12:85518290G>T uc001tac.2 + 17 4111 c.4000G>T c.(4000-4002)GAA>TAA p.E1334* LRRIQ1_uc001tab.1_Nonsense_Mutation_p.E1334* NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1334 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) TGAGCCTAGTGAAAAAATGTA 0.328 NA 30 196 4.22769e-11 7.15185e-11 0.00632 1 0 USP44 84101 broad.mit.edu 37 12 95927532 95927532 + Silent SNP T T C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr12:95927532T>C uc001teg.2 - 2 645 c.501A>G c.(499-501)GAA>GAG p.E167E USP44_uc001teh.2_Silent_p.E167E|USP44_uc009zte.2_Silent_p.E164E NM_001042403 NP_001035862 Q9H0E7 UBP44_HUMAN ubiquitin thiolesterase 44 167 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(1)|breast(1)|central_nervous_system(1) 3 TGGGTGATTGTTCAAACCATG 0.383 NA 21 81 0 0 0.010504 0 0 CDK17 5128 broad.mit.edu 37 12 96707200 96707200 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr12:96707200C>A uc001tep.1 - 4 805 c.316G>T c.(316-318)GAT>TAT p.D106Y CDK17_uc009ztk.2_Missense_Mutation_p.D106Y|CDK17_uc010svb.1_Missense_Mutation_p.D53Y NM_002595 NP_002586 Q00537 CDK17_HUMAN PCTAIRE protein kinase 2 106 ATP binding|cyclin-dependent protein kinase activity ovary(3)|lung(2)|kidney(1)|central_nervous_system(1) 7 CTCTCACCATCTGATCCCATT 0.333 NA 4 44 0.00024832 0.000291381 0.009096 1 0 NEDD1 121441 broad.mit.edu 37 12 97313900 97313900 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr12:97313900C>A uc001teu.3 + 6 825 c.486C>A c.(484-486)AAC>AAA p.N162K NEDD1_uc001tev.3_Missense_Mutation_p.N162K|NEDD1_uc010svc.1_Missense_Mutation_p.N73K|NEDD1_uc001tew.2_Missense_Mutation_p.N169K|NEDD1_uc001tex.2_Missense_Mutation_p.N73K NM_152905 NP_690869 Q8NHV4 NEDD1_HUMAN neural precursor cell expressed, developmentally 162 WD 5. cell division|G2/M transition of mitotic cell cycle|mitosis cytosol 0 ATGGTAGTAACCAGGTACAGT 0.323 NA 13 98 7.93312e-07 1.09927e-06 0.00245 1 0 C12orf42 374470 broad.mit.edu 37 12 103699904 103699904 + Missense_Mutation SNP T T A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr12:103699904T>A uc001tjt.2 - 5 567 c.479A>T c.(478-480)CAG>CTG p.Q160L C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.Q160L|C12orf42_uc001tju.2_Missense_Mutation_p.Q65L NM_198521 NP_940923 Q96LP6 CL042_HUMAN hypothetical protein LOC374470 160 ovary(1)|central_nervous_system(1) 2 GTTCCAAGCCTGCTTGGGTGC 0.493 NA 10 49 0 0 0.006214 0 0 PWP1 11137 broad.mit.edu 37 12 108086637 108086637 + Silent SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr12:108086637G>T uc001tmo.1 + 4 453 c.366G>T c.(364-366)GGG>GGT p.G122G PWP1_uc001tmn.1_RNA|PWP1_uc009zuu.1_Silent_p.G122G NM_007062 NP_008993 Q13610 PWP1_HUMAN periodic tryptophan protein 1 122 transcription, DNA-dependent nucleus 0 CGGTCTACGGGAGTAATGATC 0.338 NA 7 71 1.12685e-05 1.47107e-05 0.004482 1 0 RASAL1 8437 broad.mit.edu 37 12 113557022 113557022 + Nonsense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr12:113557022C>A uc001tum.1 - 8 846 c.553G>T c.(553-555)GAG>TAG p.E185* RASAL1_uc010syp.1_Nonsense_Mutation_p.E185*|RASAL1_uc001tul.2_Nonsense_Mutation_p.E185*|RASAL1_uc001tun.1_Nonsense_Mutation_p.E185*|RASAL1_uc010syq.1_Nonsense_Mutation_p.E185*|RASAL1_uc001tuo.3_Nonsense_Mutation_p.E185*|RASAL1_uc010syr.1_Nonsense_Mutation_p.E185* NM_004658 NP_004649 O95294 RASL1_HUMAN RAS protein activator like 1 185 C2 2. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity ovary(2)|skin(2) 4 TCCCGCAGCTCCAGCACTTCA 0.617 NA 13 36 9.31168e-06 1.23145e-05 0.001855 1 0 PLBD2 196463 broad.mit.edu 37 12 113812724 113812724 + Silent SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr12:113812724C>T uc001tve.2 + 5 806 c.771C>T c.(769-771)CTC>CTT p.L257L PLBD2_uc001tvf.2_Silent_p.L257L NM_173542 NP_775813 Q8NHP8 PLBL2_HUMAN phospholipase B domain containing 2 isoform 1 257 lipid catabolic process lysosomal lumen hydrolase activity 0 AGAGTGACCTCCTGGTTGCCC 0.577 NA 12 53 0 0 0.001855 0 0 SNRNP35 11066 broad.mit.edu 37 12 123950105 123950105 + Silent SNP C C G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr12:123950105C>G uc001ufb.1 + 2 134 c.18C>G c.(16-18)CCC>CCG p.P6P SNRNP35_uc010tar.1_Silent_p.P11P|SNRNP35_uc009zxz.2_Silent_p.P11P|SNRNP35_uc001ufc.1_Intron NM_022717 NP_073208 Q16560 U1SBP_HUMAN small nuclear ribonucleoprotein 35kDa (U11/U12) 6 mRNA processing U12-type spliceosomal complex nucleotide binding|RNA binding 0 ATTGGATGCCCATCGCCAAGG 0.453 NA 9 37 0 0 0.008291 0 0 RIMBP2 23504 broad.mit.edu 37 12 130926762 130926762 + Missense_Mutation SNP A A T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr12:130926762A>T uc001uil.2 - 8 1248 c.1084T>A c.(1084-1086)TGC>AGC p.C362S RIMBP2_uc001uim.2_Missense_Mutation_p.C270S|RIMBP2_uc001uin.1_Missense_Mutation_p.C21S NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 362 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) CGGTAGGTGCAGGCTGCCATG 0.622 NA 5 45 0 0 0.000602 0 0 PARP4 143 broad.mit.edu 37 13 25060347 25060347 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr13:25060347C>A uc001upl.2 - 11 1417 c.1311G>T c.(1309-1311)TTG>TTT p.L437F PARP4_uc010tdc.1_Missense_Mutation_p.L437F NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 437 PARP catalytic. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) GAGAACCATGCAACAAGGGCC 0.403 NA 13 64 7.03913e-09 1.08665e-08 0.013537 1 0 CDK8 1024 broad.mit.edu 37 13 26974649 26974649 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr13:26974649G>T uc001uqr.1 + 10 1019 c.993G>T c.(991-993)CAG>CAT p.Q331H CDK8_uc001uqs.1_Missense_Mutation_p.Q331H|CDK8_uc001uqt.1_Missense_Mutation_p.Q158H NM_001260 NP_001251 P49336 CDK8_HUMAN cyclin-dependent kinase 8 331 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|large_intestine(1)|ovary(1)|skin(1) 5 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) AGGCTATGCAGGACCCCTATT 0.428 NA 20 123 7.45023e-12 1.29265e-11 0.010504 1 0 POSTN 10631 broad.mit.edu 37 13 38143960 38143960 + Splice_Site SNP T T C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr13:38143960T>C uc001uwo.3 - 20 2388 c.2270_splice c.e20-1 p.G757_splice POSTN_uc010tet.1_Splice_Site_p.G258_splice|POSTN_uc001uwp.3_Splice_Site_p.G700_splice|POSTN_uc001uwr.2_Splice_Site_p.G730_splice|POSTN_uc001uwq.2_Splice_Site_p.G700_splice|POSTN_uc010teu.1_Splice_Site_p.G730_splice|POSTN_uc010tev.1_Splice_Site_p.S670_splice|POSTN_uc010tew.1_Splice_Site_p.S670_splice NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding ovary(2) 2 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) TTTCAGGACCTATGAGAAGGA 0.224 NA 21 76 0 0 0.00278 0 0 CCDC122 160857 broad.mit.edu 37 13 44411448 44411449 + Missense_Mutation DNP CG CG TT TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr13:44411448_44411449CG>TT uc010acf.2 - 7 1048_1049 c.789_790CG>AA c.(787-792)GCCGAA>GCAAAA p.E264K NM_144974 NP_659411 Q5T0U0 CC122_HUMAN coiled-coil domain containing 122 264 Potential. 0 Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128) TTTCTTAATTCGGCTGCAGTTT 0.381 NA 6 69 0 0 0.004672 0 0 C13orf31 144811 broad.mit.edu 37 13 44457980 44457980 + Missense_Mutation SNP A A G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr13:44457980A>G uc010acg.2 + 4 1300 c.815A>G c.(814-816)CAG>CGG p.Q272R C13orf31_uc001uzf.3_Missense_Mutation_p.Q272R NM_001128303 NP_001121775 Q8IV20 CM031_HUMAN hypothetical protein LOC144811 272 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) ACCACAAATCAGAGAGGAGTC 0.408 NA 19 82 0 0 0.012319 0 0 CYSLTR2 57105 broad.mit.edu 37 13 49281193 49281193 + Silent SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr13:49281193G>T uc010acx.1 + 6 923 c.240G>T c.(238-240)CTG>CTT p.L80L CYSLTR2_uc010acy.1_Silent_p.L80L|CYSLTR2_uc010acz.1_Silent_p.L80L|CYSLTR2_uc010ada.1_Silent_p.L80L|CYSLTR2_uc010adb.1_Silent_p.L80L|CYSLTR2_uc010adc.1_Silent_p.L80L|CYSLTR2_uc010add.1_Silent_p.L80L|CYSLTR2_uc010acw.1_Silent_p.L80L|CYSLTR2_uc001vck.2_Silent_p.L80L NM_020377 NP_065110 Q9NS75 CLTR2_HUMAN cysteinyl leukotriene receptor 2 80 Helical; Name=2; (Potential). immune response integral to membrane|plasma membrane lung(2) 2 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) TGCTAAATCTGGCCATTTCAG 0.428 NA 15 64 7.93312e-07 1.09927e-06 0.00245 1 0 KLHL1 57626 broad.mit.edu 37 13 70281875 70281875 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr13:70281875C>A uc001vip.2 - 10 2863 c.2069G>T c.(2068-2070)AGA>ATA p.R690I KLHL1_uc010thm.1_Missense_Mutation_p.R629I NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 690 Kelch 5. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) AACAGCATCTCTGGGCATACT 0.413 NA 20 64 1.33834e-09 2.13084e-09 0.007413 1 0 TMCO3 55002 broad.mit.edu 37 13 114193696 114193696 + Missense_Mutation SNP A A T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr13:114193696A>T uc001vtu.3 + 10 1925 c.1564A>T c.(1564-1566)ATG>TTG p.M522L NM_017905 NP_060375 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 522 integral to membrane solute:hydrogen antiporter activity 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;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) GGACGTCTCCATGGAGCTGGG 0.642 NA 10 45 0 0 0.013537 0 0 ZNF828 283489 broad.mit.edu 37 13 115091623 115091623 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr13:115091623G>T uc010ahb.2 + 3 2635 c.2306G>T c.(2305-2307)CGT>CTT p.R769L ZNF828_uc001vuv.2_Missense_Mutation_p.R769L|ZNF828_uc010tko.1_Missense_Mutation_p.R769L NM_001164144 NP_001157616 Q96JM3 ZN828_HUMAN zinc finger protein 828 769 Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_epithelial(44;0.122)|all_lung(25;0.123) BRCA - Breast invasive adenocarcinoma(86;0.104) OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197) AAATGTCCACGTTGTAATTTT 0.363 NA 15 58 1.5739e-10 2.58705e-10 0.004007 1 0 OR4K15 81127 broad.mit.edu 37 14 20443947 20443947 + Silent SNP G G C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr14:20443947G>C uc010tkx.1 + 1 270 c.270G>C c.(268-270)CTG>CTC p.L90L NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, 90 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) TTGCAAACCTGTCATTTATAG 0.453 NA 19 114 0 0 0.00278 0 0 REC8 9985 broad.mit.edu 37 14 24648811 24648811 + Missense_Mutation SNP G G A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr14:24648811G>A uc001wmr.2 + 19 1757 c.1330G>A c.(1330-1332)GAG>AAG p.E444K REC8_uc001wms.2_Missense_Mutation_p.E444K NM_005132 NP_005123 O95072 REC8_HUMAN REC8 homolog 444 Glu-rich. mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm 0 GBM - Glioblastoma multiforme(265;0.00839) GGCCTGGCCTGAGGTGGAGGC 0.622 NSCLC(139;1764 2537 12868 49041) NA 9 46 0 0 0.008291 0 0 LRFN5 145581 broad.mit.edu 37 14 42356224 42356224 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr14:42356224C>A uc001wvm.2 + 3 1594 c.396C>A c.(394-396)AAC>AAA p.N132K LRFN5_uc010ana.2_Missense_Mutation_p.N132K NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 132 Extracellular (Potential).|LRR 4. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TACTGAACAACAATCAGCTGA 0.373 NA HNSCC(30;0.082) 6 64 8.12818e-05 9.76344e-05 0.001984 1 0 MDGA2 161357 broad.mit.edu 37 14 47530708 47530708 + Silent SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr14:47530708C>T uc001wwj.3 - 7 1258 c.1062G>A c.(1060-1062)GAG>GAA p.E354E MDGA2_uc001wwi.3_Silent_p.E125E|MDGA2_uc010ani.2_5'UTR NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 354 Ig-like 4. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 ATATTTTCACCTCACGGCCAA 0.388 NA 9 57 0 0 0.004482 0 0 KIAA0586 9786 broad.mit.edu 37 14 58941420 58941420 + Silent SNP A A G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr14:58941420A>G uc001xdv.3 + 18 2775 c.2502A>G c.(2500-2502)CCA>CCG p.P834P KIAA0586_uc010trr.1_Silent_p.P951P|KIAA0586_uc001xdt.3_Silent_p.P866P|KIAA0586_uc001xdu.3_Silent_p.P895P|KIAA0586_uc010trs.1_Silent_p.P825P|KIAA0586_uc010trt.1_Silent_p.P770P|KIAA0586_uc010tru.1_Silent_p.P770P NM_014749 NP_055564 E9PGW8 E9PGW8_HUMAN talpid3 protein 834 ovary(1) 1 ATGGTCCTCCATTTCCGCCAG 0.363 NA 9 40 0 0 0.008291 0 0 PCNX 22990 broad.mit.edu 37 14 71576295 71576295 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr14:71576295G>T uc001xmo.2 + 35 7317 c.6871G>T c.(6871-6873)GGC>TGC p.G2291C PCNX_uc010are.1_Missense_Mutation_p.G2180C|PCNX_uc010arf.1_Missense_Mutation_p.G1079C|PCNX_uc001xmp.2_Missense_Mutation_p.G375C NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 2291 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TCCGCAGGAGGGCATGGAAGG 0.483 NA 5 26 2.7689e-08 4.1636e-08 0.001984 1 0 OR4N4 283694 broad.mit.edu 37 15 22383396 22383396 + Nonsense_Mutation SNP T T A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr15:22383396T>A uc001yuc.1 + 7 1905 c.924T>A c.(922-924)TGT>TGA p.C308* LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Nonsense_Mutation_p.C308* NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 308 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ATGTAGTCTGTCAAGTGGATT 0.294 NA 12 62 0 0 0.010729 0 0 OR4N3P 390539 broad.mit.edu 37 15 22413842 22413842 + Nonsense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr15:22413842C>A uc001yuf.2 + 1 141 c.141C>A c.(139-141)TGC>TGA p.C47* NM_001080841 NP_001074310 RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13; 0 TCACCATCTGCCTGCCTCTGC 0.507 NA 8 195 0.00448238 0.00499958 0.004482 1 0 C15orf2 23742 broad.mit.edu 37 15 24923779 24923779 + Missense_Mutation SNP C C G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr15:24923779C>G uc001ywo.2 + 1 3239 c.2765C>G c.(2764-2766)CCA>CGA p.P922R NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 922 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CCAGCAACCCCAGCACCAGTT 0.468 NA 8 104 0 0 0.00308 0 0 LPCAT4 254531 broad.mit.edu 37 15 34652348 34652348 + Silent SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr15:34652348G>T uc001zig.2 - 12 1300 c.1206C>A c.(1204-1206)GGC>GGA p.G402G NM_153613 NP_705841 Q643R3 LPCT4_HUMAN lysophosphatidylcholine acyltransferase 4 402 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity|calcium ion binding 0 CCAGGCTCCTGCCCCCATCCA 0.602 NA 4 81 0.000602214 0.000696578 0.000602 1 0 PAK6 56924 broad.mit.edu 37 15 40568142 40568142 + Silent SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr15:40568142G>T uc010bbl.2 + 11 2333 c.1893G>T c.(1891-1893)CTG>CTT p.L631L PAK6_uc010bbm.2_Silent_p.L631L|PAK6_uc001zky.3_Silent_p.L586L|PAK6_uc010bbn.2_Silent_p.L631L|PAK6_uc001zlb.2_Silent_p.L631L NM_001128628 NP_001122100 Q9NQU5 PAK6_HUMAN p21-activated kinase 6 631 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(5)|large_intestine(1)|ovary(1)|skin(1) 8 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) CCCCAGTGCTGCGAGACTTCC 0.577 NA 6 70 3.59834e-05 4.49515e-05 0.001168 1 0 MAPKBP1 23005 broad.mit.edu 37 15 42107526 42107526 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr15:42107526G>T uc001zok.3 + 12 1544 c.1258G>T c.(1258-1260)GAC>TAC p.D420Y MAPKBP1_uc001zoj.3_Missense_Mutation_p.D414Y|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Missense_Mutation_p.D414Y|MAPKBP1_uc010udb.1_Intron|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_5'UTR NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 420 WD 6. central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) CTGCTCCTCAGACAACACCAT 0.597 NA 9 34 1.76689e-08 2.66676e-08 0.006214 1 0 TLN2 83660 broad.mit.edu 37 15 63132786 63132786 + Missense_Mutation SNP G G A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr15:63132786G>A uc002alb.3 + 56 7606 c.7606G>A c.(7606-7608)GAG>AAG p.E2536K TLN2_uc002alc.3_Missense_Mutation_p.E929K|TLN2_uc010uic.1_Missense_Mutation_p.E152K NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 2536 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 TTTACCCACCGAGCTGAGGGA 0.562 NA 4 19 0 0 0.009096 0 0 CILP 8483 broad.mit.edu 37 15 65489472 65489472 + Missense_Mutation SNP G G A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr15:65489472G>A uc002aon.2 - 9 3333 c.3152C>T c.(3151-3153)CCA>CTA p.P1051L NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 1051 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 GACTGCAAGTGGCAAGTGGTT 0.592 NA 7 54 0 0 0.001984 0 0 XYLT1 64131 broad.mit.edu 37 16 17235204 17235204 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr16:17235204C>A uc002dfa.2 - 7 1478 c.1393G>T c.(1393-1395)GAT>TAT p.D465Y NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 465 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 AAGAGCCGATCCAGGCCCTGC 0.587 NA 12 46 0.00185496 0.00210956 0.001855 1 0 XYLT1 64131 broad.mit.edu 37 16 17294435 17294435 + Missense_Mutation SNP A A C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr16:17294435A>C uc002dfa.2 - 4 1075 c.990T>G c.(988-990)TTT>TTG p.F330L NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 330 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 CCACCAGGACAAAGGCGATTC 0.552 NA 22 132 0 0 0.014323 0 0 THUMPD1 55623 broad.mit.edu 37 16 20748556 20748556 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr16:20748556C>A uc002dho.2 - 4 846 c.708G>T c.(706-708)CAG>CAT p.Q236H THUMPD1_uc010vaz.1_Missense_Mutation_p.Q89H|THUMPD1_uc002dhp.2_Missense_Mutation_p.Q236H NM_017736 NP_060206 Q9NXG2 THUM1_HUMAN THUMP domain containing 1 236 THUMP. 0 CCACTGTGTACTGTGGATTGG 0.388 NA 13 81 4.3838e-07 6.31143e-07 0.001855 1 0 SPNS1 83985 broad.mit.edu 37 16 28990742 28990742 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr16:28990742G>T uc010vdi.1 + 6 753 c.613G>T c.(613-615)GCA>TCA p.A205S uc010vct.1_Intron|SPNS1_uc002dry.2_Missense_Mutation_p.A205S|SPNS1_uc002drx.2_Missense_Mutation_p.A132S|SPNS1_uc002dsa.2_Missense_Mutation_p.A205S|SPNS1_uc002drz.2_Missense_Mutation_p.A205S|SPNS1_uc010byp.2_Missense_Mutation_p.A183S|SPNS1_uc010byq.1_Missense_Mutation_p.A132S NM_001142448 NP_001135920 Q9H2V7 SPNS1_HUMAN spinster homolog 1 isoform 1 205 Helical; (Potential). lipid transport|transmembrane transport integral to membrane|mitochondrial inner membrane protein binding 0 GGGCTACATTGCAGGCTCCAA 0.617 NA 16 72 1.33834e-09 2.13084e-09 0.007413 1 0 CORO1A 11151 broad.mit.edu 37 16 30198005 30198005 + Silent SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr16:30198005C>T uc002dww.2 + 3 407 c.285C>T c.(283-285)AAC>AAT p.N95N uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010vej.1_Silent_p.N95N|CORO1A_uc010bzq.2_Silent_p.N95N|CORO1A_uc010bzr.2_Silent_p.N95N|CORO1A_uc002dwx.2_Translation_Start_Site|CORO1A_uc002dwy.1_Translation_Start_Site|LOC606724_uc002dwz.1_5'Flank NM_007074 NP_009005 P31146 COR1A_HUMAN coronin, actin binding protein, 1A 95 WD 2. cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity 0 ACAATGACAACGTCATTGCCA 0.602 NA 5 16 0 0 0.000602 0 0 RNF40 9810 broad.mit.edu 37 16 30776605 30776605 + Missense_Mutation SNP G G C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr16:30776605G>C uc002dzq.2 + 7 998 c.875G>C c.(874-876)CGA>CCA p.R292P RNF40_uc010caa.2_Missense_Mutation_p.R292P|RNF40_uc010cab.2_Missense_Mutation_p.R292P|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.R292P|RNF40_uc010vfb.1_Intron|RNF40_uc010vfc.1_5'Flank NM_014771 NP_055586 O75150 BRE1B_HUMAN ring finger protein 40 292 Potential. histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1) 1 Colorectal(24;0.198) CTGCGGAAGCGAGAGCAAAAG 0.597 NA 9 36 0 0 0.008291 0 0 ITGAD 3681 broad.mit.edu 37 16 31422734 31422734 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr16:31422734C>A uc002ebv.1 + 14 1652 c.1603C>A c.(1603-1605)CTG>ATG p.L535M ITGAD_uc010cap.1_Missense_Mutation_p.L536M NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 535 FG-GAP 6.|Extracellular (Potential).|Potential. cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 TGAGGACAAGCTGATAGACGT 0.637 NA 23 181 2.21704e-12 3.93064e-12 0.00278 1 0 MMP2 4313 broad.mit.edu 37 16 55519270 55519270 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr16:55519270C>A uc002ehz.3 + 4 900 c.589C>A c.(589-591)CCA>ACA p.P197T MMP2_uc010vhd.1_Missense_Mutation_p.P121T|MMP2_uc010ccc.2_Missense_Mutation_p.P147T NM_004530 NP_004521 P08253 MMP2_HUMAN matrix metalloproteinase 2 isoform a 197 Collagenase-like 1. 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) TGCCTTCGCCCCAGGCACTGG 0.577 NA 14 90 0.000422831 0.000493303 0.004007 1 0 WWP2 11060 broad.mit.edu 37 16 69964119 69964119 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr16:69964119G>T uc002exu.1 + 14 1492 c.1403G>T c.(1402-1404)CGC>CTC p.R468L WWP2_uc002exv.1_Missense_Mutation_p.R468L|WWP2_uc010vlm.1_Missense_Mutation_p.R352L|WWP2_uc010vln.1_Missense_Mutation_p.R86L|WWP2_uc002exw.1_Missense_Mutation_p.R29L|uc002exx.1_5'Flank|MIR140_hsa-mir-140|MI0000456_5'Flank NM_007014 NP_008945 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 468 WW 4. entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity lung(3)|ovary(1)|breast(1)|skin(1) 6 CACAATACCCGCACCACCACC 0.582 NA OREG0023910 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 49 0.00136819 0.00156036 0.013537 1 0 CNTNAP4 85445 broad.mit.edu 37 16 76350316 76350316 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr16:76350316G>T uc002feu.1 + 4 477 c.92G>T c.(91-93)TGT>TTT p.C31F CNTNAP4_uc002fev.1_5'UTR|CNTNAP4_uc010chb.1_Missense_Mutation_p.C6F|CNTNAP4_uc002fex.1_Missense_Mutation_p.C34F|CNTNAP4_uc002few.2_Missense_Mutation_p.C6F NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 31 Extracellular (Potential).|F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 GCAGATGACTGTGATGATCCT 0.468 NA 8 28 7.48243e-07 1.04754e-06 0.006214 1 0 ADAMTS18 170692 broad.mit.edu 37 16 77355074 77355074 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr16:77355074C>A uc002ffc.3 - 15 2608 c.2189G>T c.(2188-2190)GGC>GTC p.G730V ADAMTS18_uc010chc.1_Missense_Mutation_p.G318V|ADAMTS18_uc002ffe.1_Missense_Mutation_p.G426V NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 730 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 TGCTTTAGAGCCTAGTTCATG 0.388 NA 14 104 6.31663e-08 9.39396e-08 0.003163 1 0 ZNF778 197320 broad.mit.edu 37 16 89293777 89293777 + Nonsense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr16:89293777G>T uc002fmv.2 + 6 1336 c.997G>T c.(997-999)GGA>TGA p.G333* ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Nonsense_Mutation_p.G291*|ZNF778_uc010vpg.1_Nonsense_Mutation_p.G96* NM_182531 NP_872337 Q96MU6 ZN778_HUMAN zinc finger protein 778 333 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0269) AACAGACCCTGGACAGAAGCC 0.468 NA 15 91 6.72482e-11 1.11897e-10 0.003163 1 0 ANKFY1 51479 broad.mit.edu 37 17 4075872 4075872 + Missense_Mutation SNP G G A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr17:4075872G>A uc002fxq.1 - 22 3156 c.3118C>T c.(3118-3120)CCG>TCG p.P1040S ANKFY1_uc002fxn.2_Missense_Mutation_p.P1082S|ANKFY1_uc002fxo.2_Missense_Mutation_p.P1041S|ANKFY1_uc002fxp.2_Missense_Mutation_p.P1039S|ANKFY1_uc010ckp.2_Missense_Mutation_p.P982S NM_016376 NP_057460 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 1040 endosome membrane metal ion binding|protein binding ovary(2)|skin(1) 3 TCTGCATCCGGCTTGTCCAGA 0.562 NA 3 53 0 0 0.000602 0 0 ALOX12 239 broad.mit.edu 37 17 6913416 6913416 + Missense_Mutation SNP T T A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr17:6913416T>A uc002gdx.3 + 13 1836 c.1783T>A c.(1783-1785)TGG>AGG p.W595R uc002gdy.1_Intron|ALOX12_uc002gdz.3_Missense_Mutation_p.W65R|RNASEK_uc002gea.2_5'Flank|C17orf49_uc002geb.3_5'Flank|C17orf49_uc002gec.2_5'Flank NM_000697 NP_000688 P18054 LOX12_HUMAN arachidonate 12-lipoxygenase 595 Lipoxygenase. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding central_nervous_system(1) 1 GGCCATCTCATGGCATCTGAG 0.582 NA 8 20 0 0 0.00308 0 0 MYH3 4621 broad.mit.edu 37 17 10543658 10543658 + Silent SNP C C G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr17:10543658C>G uc002gmq.1 - 20 2495 c.2418G>C c.(2416-2418)GTG>GTC p.V806V NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 806 IQ. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 ACCTCCTCTGCACCATCTTCT 0.522 NA 6 65 0 0 0.001984 0 0 DNAH9 1770 broad.mit.edu 37 17 11592948 11592949 + Nonsense_Mutation DNP CC CC AA TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr17:11592948_11592949CC>AA uc002gne.2 + 20 3877_3878 c.3809_3810CC>AA c.(3808-3810)TCC>TAA p.S1270* DNAH9_uc010coo.2_Nonsense_Mutation_p.S564* NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1270 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) CAGATGGAATCCACTATGGCCT 0.49 NA 13 72 0 0 0.004672 0 0 TOP3A 7156 broad.mit.edu 37 17 18196026 18196026 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr17:18196026C>A uc002gsx.1 - 11 1443 c.1214G>T c.(1213-1215)CGC>CTC p.R405L TOP3A_uc010cpz.1_5'Flank|TOP3A_uc010vxr.1_Intron|TOP3A_uc002gsw.1_Intron|TOP3A_uc010vxs.1_Missense_Mutation_p.R303L NM_004618 NP_004609 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 405 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding skin(3) 3 GTTCCCATTGCGTGGGGTGGG 0.562 NA 11 52 0.000673444 0.000774556 0.008291 1 0 SLC47A2 146802 broad.mit.edu 37 17 19611069 19611069 + Missense_Mutation SNP C C G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr17:19611069C>G uc002gwe.3 - 8 1000 c.825G>C c.(823-825)GAG>GAC p.E275D SLC47A2_uc002gwg.3_Missense_Mutation_p.E239D|SLC47A2_uc002gwf.3_Missense_Mutation_p.E239D|SLC47A2_uc002gwh.3_RNA|SLC47A2_uc002gwi.2_RNA|SLC47A2_uc010cqs.1_RNA|SLC47A2_uc010cqt.1_RNA NM_152908 NP_690872 Q86VL8 S47A2_HUMAN solute carrier family 47, member 2 isoform 1 275 Cytoplasmic (Potential). integral to membrane|plasma membrane drug:hydrogen antiporter activity 0 all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245) CTGCCCACGTCTCCAGGTGCA 0.632 NA 2 4 0 0 0.004672 0 0 GAS2L2 246176 broad.mit.edu 37 17 34072004 34072004 + Nonsense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr17:34072004C>A uc002hjv.1 - 6 2540 c.2512G>T c.(2512-2514)GAG>TAG p.E838* NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 838 cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) tcctcctcctcctcACCTACT 0.537 NA 9 32 1.58986e-06 2.15881e-06 0.008291 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274206 39274206 + Missense_Mutation SNP C C T rs79388709 TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr17:39274206C>T uc002hvz.2 - 1 401 c.362G>A c.(361-363)AGA>AAA p.R121K NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 121 20.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) gcactggggtctgcagcagct 0.1 NA 3 26 0 0 0.004672 0 0 AARSD1 80755 broad.mit.edu 37 17 41103887 41103887 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr17:41103887C>A uc002icc.2 - 11 1036 c.1033G>T c.(1033-1035)GGC>TGC p.G345C AARSD1_uc002icd.2_Missense_Mutation_p.G458C|AARSD1_uc002ice.2_Missense_Mutation_p.G428C|AARSD1_uc002icf.2_Missense_Mutation_p.G519C|AARSD1_uc010whg.1_Missense_Mutation_p.G519C NM_025267 NP_079543 Q9BTE6 AASD1_HUMAN alanyl-tRNA synthetase domain containing 1 345 alanyl-tRNA aminoacylation cytoplasm alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding 0 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) TTCTCATCGCCCACAGTTAAG 0.522 NA 7 28 0.00307968 0.00346357 0.00308 1 0 LRRC46 90506 broad.mit.edu 37 17 45913760 45913760 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr17:45913760C>A uc002ima.2 + 7 770 c.514C>A c.(514-516)CGC>AGC p.R172S LRRC46_uc002imb.2_Missense_Mutation_p.R125S NM_033413 NP_219481 Q96FV0 LRC46_HUMAN leucine rich repeat containing 46 172 LRRCT. ovary(1) 1 TGTGGTGGAGCGCTGGATTTC 0.602 NA 9 29 0.00621372 0.00681829 0.006214 1 0 PPM1E 22843 broad.mit.edu 37 17 57050271 57050271 + Missense_Mutation SNP G G C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr17:57050271G>C uc002iwx.2 + 6 1322 c.1195G>C c.(1195-1197)GTT>CTT p.V399L PPM1E_uc010ddd.2_Missense_Mutation_p.V162L NM_014906 NP_055721 Q8WY54 PPM1E_HUMAN protein phosphatase 1E 408 PP2C-like. protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(3)|lung(1)|skin(1) 5 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) AAGTCTGTCGGTTTCCAGAGC 0.433 NA 14 64 0 0 0.003163 0 0 CA4 762 broad.mit.edu 37 17 58234889 58234889 + Nonsense_Mutation SNP A A T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr17:58234889A>T uc002iym.3 + 4 464 c.370A>T c.(370-372)AAG>TAG p.K124* CA4_uc010wou.1_Intron NM_000717 NP_000708 P22748 CAH4_HUMAN carbonic anhydrase IV precursor 124 bicarbonate transport|one-carbon metabolic process anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane carbonate dehydratase activity|protein binding|zinc ion binding 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.83e-12)|all cancers(12;6.83e-11) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) CTTGCCATATAAGGGCTCGGA 0.607 NA 23 127 0 0 0.00278 0 0 MRC2 9902 broad.mit.edu 37 17 60754845 60754845 + Nonsense_Mutation SNP A A T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr17:60754845A>T uc002jad.2 + 12 2452 c.2050A>T c.(2050-2052)AAG>TAG p.K684* MRC2_uc010ddq.1_RNA NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 684 Extracellular (Potential).|C-type lectin 4. endocytosis integral to membrane receptor activity|sugar binding ovary(1)|central_nervous_system(1)|skin(1) 3 GTATTGCTATAAGGTAGGGCA 0.642 NA 3 21 0 0 0.009096 0 0 GH2 2689 broad.mit.edu 37 17 61958500 61958500 + Silent SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr17:61958500G>T uc002jco.1 - 3 242 c.180C>A c.(178-180)GCC>GCA p.A60A GH2_uc002jcj.2_Silent_p.A60A|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Silent_p.A60A|GH2_uc002jcm.1_Silent_p.A60A|GH2_uc002jcn.1_Intron NM_002059 NP_002050 P01242 SOM2_HUMAN growth hormone 2 isoform 1 60 extracellular region hormone activity upper_aerodigestive_tract(2)|pancreas(1) 3 TCAGGATATAGGCTTCTTCCT 0.517 NA 48 234 1.32667e-27 2.7481e-27 0.01441 1 0 QRICH2 84074 broad.mit.edu 37 17 74288678 74288678 + Silent SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr17:74288678C>T uc002jrd.1 - 4 1812 c.1632G>A c.(1630-1632)TTG>TTA p.L544L QRICH2_uc010wsz.1_Silent_p.L470L|QRICH2_uc010dgw.1_Intron NM_032134 NP_115510 Q9H0J4 QRIC2_HUMAN glutamine rich 2 544 Gln-rich. protein binding ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1) 5 CAGATTGTACCAAACCATGCT 0.527 NA 9 50 0 0 0.004482 0 0 SPHK1 8877 broad.mit.edu 37 17 74383634 74383634 + Silent SNP C C G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr17:74383634C>G uc002jrf.1 + 8 1931 c.1122C>G c.(1120-1122)CCC>CCG p.P374P SPHK1_uc002jrg.1_Silent_p.P323P|SPHK1_uc002jrh.2_Silent_p.P388P|SPHK1_uc002jrj.2_Silent_p.P460P|SPHK1_uc002jri.2_Silent_p.P374P|SPHK1_uc002jrk.3_Silent_p.P374P|uc010wtd.1_RNA NM_001142602 NP_001136074 Q9NYA1 SPHK1_HUMAN sphingosine kinase 1 isoform 3 374 'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity kidney(1) 1 GCTGGAAGCCCCAGCAGATGC 0.632 GBM(90;966 1307 27369 33775 44498) NA 5 56 0 0 0.001168 0 0 ANKRD12 23253 broad.mit.edu 37 18 9257679 9257679 + Nonsense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr18:9257679G>T uc002knv.2 + 9 4671 c.4414G>T c.(4414-4416)GAA>TAA p.E1472* ANKRD12_uc002knw.2_Nonsense_Mutation_p.E1449*|ANKRD12_uc002knx.2_Nonsense_Mutation_p.E1449*|ANKRD12_uc010dkx.1_Nonsense_Mutation_p.E1179* NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 1472 nucleus ovary(2)|central_nervous_system(1) 3 GCGCCAGACTGAACTGCCAGG 0.428 NA 12 45 1.08611e-07 1.59191e-07 0.010729 1 0 C18orf25 147339 broad.mit.edu 37 18 43796479 43796479 + Silent SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr18:43796479G>T uc002lbw.2 + 2 1012 c.633G>T c.(631-633)CTG>CTT p.L211L C18orf25_uc002lbx.2_Silent_p.L211L NM_145055 NP_659492 Q96B23 CR025_HUMAN ARKadia-like 1 isoform a 211 central_nervous_system(2) 2 ATAGTGACCTGACTTGTGACT 0.478 NA 6 38 3.59834e-05 4.49515e-05 0.001168 1 0 MYO5B 4645 broad.mit.edu 37 18 47390574 47390574 + Missense_Mutation SNP C C G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr18:47390574C>G uc002leb.2 - 28 4068 c.3780G>C c.(3778-3780)GAG>GAC p.E1260D MYO5B_uc002lea.2_Missense_Mutation_p.E401D NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 1260 Potential. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) GGATGAGCACCTCCTCCTTGC 0.667 NA 15 47 0 0 0.003163 0 0 CDH20 28316 broad.mit.edu 37 18 59217255 59217255 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr18:59217255C>A uc010dps.1 + 10 1705 c.1693C>A c.(1693-1695)CAG>AAG p.Q565K CDH20_uc002lif.2_Missense_Mutation_p.Q559K NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 565 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) TTTCCGGCAGCAGGAGCAGAG 0.522 NA 4 31 0.00909568 0.00987392 0.009096 1 0 NETO1 81832 broad.mit.edu 37 18 70451042 70451042 + Nonsense_Mutation SNP T T A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr18:70451042T>A uc002lkw.2 - 7 1023 c.739A>T c.(739-741)AAA>TAA p.K247* NETO1_uc002lkx.1_Nonsense_Mutation_p.K246*|NETO1_uc002lky.1_Nonsense_Mutation_p.K247* NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 247 CUB 2.|Extracellular (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) AACTTAGCTTTCAAATCCTCC 0.468 NA 33 105 0 0 0.009535 0 0 ATP9B 374868 broad.mit.edu 37 18 77133995 77133995 + Silent SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr18:77133995G>T uc002lmx.2 + 28 3182 c.3168G>T c.(3166-3168)CTG>CTT p.L1056L ATP9B_uc002lmw.1_Silent_p.L1056L|ATP9B_uc002lna.2_Silent_p.L82L|ATP9B_uc002lnb.1_3'UTR|ATP9B_uc010drb.2_RNA NM_198531 NP_940933 O43861 ATP9B_HUMAN ATPase, class II, type 9B 1056 Helical; (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) CCGAGCTGCTGATGGTGGCGC 0.597 NA 3 42 0.00909568 0.00987392 0.009096 1 0 NFIC 4782 broad.mit.edu 37 19 3452574 3452574 + Silent SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:3452574C>T uc010xhi.1 + 8 1241 c.1179C>T c.(1177-1179)GCC>GCT p.A393A NFIC_uc002lxo.2_Silent_p.A384A|NFIC_uc010xhh.1_Silent_p.A384A|NFIC_uc002lxp.2_Silent_p.A393A|NFIC_uc010xhj.1_Silent_p.A393A NM_205843 NP_995315 P08651 NFIC_HUMAN nuclear factor I/C isoform 2 393 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) CCCACACGGCCATCCGCTACC 0.657 NA 27 118 0 0 0.008361 0 0 DAPK3 1613 broad.mit.edu 37 19 3964952 3964952 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:3964952C>A uc002lzc.1 - 2 193 c.100G>T c.(100-102)GGC>TGC p.G34C DAPK3_uc002lzd.1_Missense_Mutation_p.G34C NM_001348 NP_001339 O43293 DAPK3_HUMAN death-associated protein kinase 3 34 Protein kinase. apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) TTGCCCGTGCCCTTCTGCCGG 0.458 NA 5 45 8.12818e-05 9.76344e-05 0.001984 1 0 INSR 3643 broad.mit.edu 37 19 7174600 7174600 + Missense_Mutation SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:7174600C>T uc002mgd.1 - 4 1226 c.1117G>A c.(1117-1119)GGA>AGA p.G373R INSR_uc002mge.1_Missense_Mutation_p.G373R|INSR_uc002mgf.2_Missense_Mutation_p.G373R NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 373 activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCACTGCCTCCTCGAATGTTG 0.602 NA 7 42 0 0 0.001984 0 0 MUC16 94025 broad.mit.edu 37 19 9061893 9061893 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:9061893G>T uc002mkp.2 - 3 25757 c.25553C>A c.(25552-25554)ACC>AAC p.T8518N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8520 Ser-rich.|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 TGACCAAAAGGTTGTTGTTGA 0.502 NA 21 86 1.37657e-19 2.73963e-19 0.012319 1 0 MUC16 94025 broad.mit.edu 37 19 9090511 9090511 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:9090511G>T uc002mkp.2 - 1 1508 c.1304C>A c.(1303-1305)ACA>AAA p.T435K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 435 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 AGTCATAGATGTATTCAAAGT 0.483 NA 20 73 1.56452e-12 2.78595e-12 0.007413 1 0 MAST1 22983 broad.mit.edu 37 19 12951814 12951814 + Missense_Mutation SNP C C G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:12951814C>G uc002mvm.2 + 3 310 c.182C>G c.(181-183)CCC>CGC p.P61R MAST1_uc002mvk.2_Missense_Mutation_p.P57R|MAST1_uc002mvl.2_Missense_Mutation_p.P61R NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 61 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(2)|large_intestine(1)|skin(1) 7 GGCAGCAGTCCCCTGGACAGC 0.602 NA 7 74 0 0 0.001984 0 0 ZNF208 7757 broad.mit.edu 37 19 22156079 22156079 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:22156079C>A uc002nqp.2 - 5 1606 c.1457G>T c.(1456-1458)TGT>TTT p.C486F ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) AGCTTTGCCACATTCTTCACA 0.348 NA 6 20 5.9392e-07 8.4018e-07 0.001168 1 0 SIPA1L3 23094 broad.mit.edu 37 19 38621383 38621383 + Silent SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:38621383C>A uc002ohk.2 + 10 3623 c.3114C>A c.(3112-3114)ATC>ATA p.I1038I NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 1038 PDZ. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TGGTCATCATCCCGCCTTTTG 0.627 NA 10 38 1.58986e-06 2.15881e-06 0.008291 1 0 KCNK6 9424 broad.mit.edu 37 19 38817960 38817960 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:38817960G>T uc002oic.2 + 3 969 c.859G>T c.(859-861)GTG>TTG p.V287L KCNK6_uc002oid.2_Missense_Mutation_p.V153L NM_004823 NP_004814 Q9Y257 KCNK6_HUMAN potassium channel, subfamily K, member 6 287 Cytoplasmic (Potential). voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(1) 1 all_cancers(60;5.83e-07) Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613) Ibutilide(DB00308)|Quinidine(DB00908) GGACGATCGGGTGGACATCCT 0.667 NA 9 45 0.000673444 0.000774556 0.008291 1 0 PAK4 10298 broad.mit.edu 37 19 39660361 39660361 + Silent SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:39660361C>T uc002okj.1 + 4 629 c.168C>T c.(166-168)CCC>CCT p.P56P PAK4_uc002okl.1_Silent_p.P56P|PAK4_uc002okn.1_Silent_p.P56P|PAK4_uc002okm.1_Silent_p.P56P|PAK4_uc002oko.1_Silent_p.P56P|PAK4_uc002okp.1_Silent_p.P56P NM_001014831 NP_001014831 O96013 PAK4_HUMAN p21-activated kinase 4 isoform 1 56 Linker. cellular component movement|signal transduction Golgi apparatus ATP binding|protein binding|protein serine/threonine kinase activity lung(3)|ovary(1) 4 all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454) Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113) TCGTCGACCCCGCCTGCATCA 0.711 NA 9 23 0 0 0.008291 0 0 IL29 282618 broad.mit.edu 37 19 39788642 39788642 + Silent SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:39788642C>A uc002okv.2 + 3 385 c.288C>A c.(286-288)GCC>GCA p.A96A NM_172140 NP_742152 Q8IU54 IL29_HUMAN interleukin 29 precursor 96 defense response to virus|negative regulation of cell proliferation|negative regulation of interleukin-13 production|negative regulation of interleukin-5 production|negative regulation of memory T cell differentiation|negative regulation of transcription, DNA-dependent|negative regulation of type 2 immune response|positive regulation of immune response|positive regulation of interferon-gamma production|positive regulation of MHC class I biosynthetic process|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of STAT protein extracellular space|interleukin-28 receptor complex cytokine activity|interleukin-28 receptor binding 0 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CTGAGCTGGCCCTGACGCTGA 0.642 NA 5 48 8.12818e-05 9.76344e-05 0.001984 1 0 SPTBN4 57731 broad.mit.edu 37 19 41063082 41063082 + Missense_Mutation SNP G G A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:41063082G>A uc002ony.2 + 26 5529 c.5443G>A c.(5443-5445)GCC>ACC p.A1815T SPTBN4_uc002onx.2_Missense_Mutation_p.A1815T|SPTBN4_uc002onz.2_Missense_Mutation_p.A1815T|SPTBN4_uc010egx.2_Missense_Mutation_p.A558T|SPTBN4_uc002ooa.2_Missense_Mutation_p.A491T NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 1815 Spectrin 15. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACTGAACGAGGCCTGGGCTGA 0.632 NA 6 25 0 0 0.00308 0 0 RASIP1 54922 broad.mit.edu 37 19 49243435 49243435 + Silent SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:49243435C>T uc002pki.2 - 2 302 c.105G>A c.(103-105)CTG>CTA p.L35L NM_017805 NP_060275 Q5U651 RAIN_HUMAN Ras-interacting protein 1 35 signal transduction Golgi stack|perinuclear region of cytoplasm pancreas(1) 1 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) AGCGCCGCCCCAGCTTCGCCA 0.647 NA 6 52 0 0 0.00308 0 0 SYT3 84258 broad.mit.edu 37 19 51135639 51135639 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:51135639C>A uc002pst.2 - 2 1212 c.578G>T c.(577-579)GGA>GTA p.G193V SYT3_uc002psv.2_Missense_Mutation_p.G193V|SYT3_uc010ycd.1_Missense_Mutation_p.G193V NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN synaptotagmin III 193 Cytoplasmic (Potential). cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity p.G193R(1) ovary(2)|breast(1) 3 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) AGAGCCTGCTCCCCCCTCAGA 0.637 NA 8 38 1.06961e-07 1.57342e-07 0.00308 1 0 SIGLEC8 27181 broad.mit.edu 37 19 51960764 51960764 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:51960764C>A uc002pwt.2 - 2 751 c.684G>T c.(682-684)TTG>TTT p.L228F SIGLEC8_uc010yda.1_Intron|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Intron NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 precursor 228 Ig-like C2-type 1.|Extracellular (Potential). cell adhesion integral to membrane sugar binding|transmembrane receptor activity ovary(2)|kidney(1)|central_nervous_system(1)|skin(1) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CTGTCCCAGGCAAGGTCACCT 0.647 NA 5 15 5.9392e-07 8.4018e-07 0.001168 1 0 SIGLEC14 100049587 broad.mit.edu 37 19 52149086 52149086 + Missense_Mutation SNP G G A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:52149086G>A uc002pxf.3 - 3 769 c.649C>T c.(649-651)CGC>TGC p.R217C NM_001098612 NP_001092082 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 precursor 217 Ig-like C2-type 1.|Extracellular (Potential). cell adhesion integral to membrane|plasma membrane protein binding|sugar binding ovary(1) 1 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) GCTCCTTGGCGTTTCACCTGA 0.642 NA 10 46 0 0 0.008291 0 0 ZNF534 147658 broad.mit.edu 37 19 52941035 52941035 + Nonsense_Mutation SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:52941035C>T uc002pzk.2 + 4 422 c.361C>T c.(361-363)CAA>TAA p.Q121* ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Nonsense_Mutation_p.Q108* NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN zinc finger protein 534 isoform 2 121 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACTTAAAAATCAACATGGATT 0.353 NA 4 34 0 0 0.000602 0 0 ZNF347 84671 broad.mit.edu 37 19 53643937 53643937 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:53643937C>A uc002qbb.1 - 5 2213 c.2144G>T c.(2143-2145)GGG>GTG p.G715V ZNF347_uc010eql.1_Missense_Mutation_p.G716V|ZNF347_uc002qbc.1_Missense_Mutation_p.G716V NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 715 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) AAAGGCTTTCCCACACTGATT 0.428 Melanoma(64;205 1597 17324 45721) NA 20 141 7.41877e-09 1.14092e-08 0.012319 1 0 LILRA4 23547 broad.mit.edu 37 19 54849250 54849250 + Nonsense_Mutation SNP G G T rs149766788 byFrequency TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:54849250G>T uc002qfj.2 - 4 669 c.612C>A c.(610-612)TAC>TAA p.Y204* LILRA4_uc002qfi.2_Nonsense_Mutation_p.Y138* NM_012276 NP_036408 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor subfamily 204 Extracellular (Potential).|Ig-like C2-type 2. integral to membrane receptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) CCGACCACACGTATGGGGTGT 0.552 NA 8 44 0.00621372 0.00681829 0.006214 1 0 LILRA2 11027 broad.mit.edu 37 19 55086241 55086241 + Silent SNP G G C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:55086241G>C uc002qgg.3 + 4 485 c.396G>C c.(394-396)GTG>GTC p.V132V LILRA2_uc010ern.2_Silent_p.V132V|LILRA2_uc002qgf.2_Silent_p.V132V|LILRA2_uc010yfe.1_Silent_p.V132V|LILRA2_uc010yff.1_Silent_p.V120V|LILRA2_uc010ero.2_Silent_p.V120V|LILRA2_uc010yfg.1_Silent_p.V132V NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 132 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) CCAGCCCTGTGGTGACCTTAG 0.562 NA 22 79 0 0 0.004656 0 0 LILRA1 11024 broad.mit.edu 37 19 55107774 55107774 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:55107774C>A uc002qgh.1 + 7 1261 c.1079C>A c.(1078-1080)GCG>GAG p.A360E LILRA2_uc010yfg.1_Missense_Mutation_p.A358E|LILRA1_uc010yfh.1_Missense_Mutation_p.A360E NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 360 Ig-like C2-type 4.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) CTGACCAAGGCGGGAGCAGCT 0.587 NA 14 60 2.31682e-05 2.93947e-05 0.003163 1 0 LILRB4 11006 broad.mit.edu 37 19 55175419 55175419 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:55175419C>A uc002qgp.2 + 3 640 c.278C>A c.(277-279)GCA>GAA p.A93E LILRB4_uc002qgo.1_Missense_Mutation_p.A134E|LILRB4_uc002qgq.2_Missense_Mutation_p.A93E|LILRB4_uc010ers.1_Missense_Mutation_p.A6E|LILRB4_uc002qgr.2_Missense_Mutation_p.A134E|LILRB4_uc010ert.2_Missense_Mutation_p.A134E|LILRB4_uc010eru.2_Missense_Mutation_p.A122E NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, 93 Ig-like C2-type 1.|Extracellular (Potential). integral to membrane|plasma membrane antigen binding|receptor activity ovary(3) 3 GBM - Glioblastoma multiforme(193;0.035) GAGGACTATGCAGGGAGATAC 0.577 NA 24 173 5.62743e-28 1.17166e-27 0.007291 1 0 BRSK1 84446 broad.mit.edu 37 19 55805585 55805585 + Silent SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:55805585C>A uc002qkg.2 + 6 856 c.579C>A c.(577-579)TCC>TCA p.S193S BRSK1_uc002qkf.2_Silent_p.S209S NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 193 Protein kinase. establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1) 6 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) CCCTCAGGTCCCCCCATTATG 0.622 NA 16 81 6.94344e-10 1.12312e-09 0.006122 1 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701647 56701647 + Missense_Mutation SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:56701647C>T uc010ygh.1 - 4 1037 c.1037G>A c.(1036-1038)GGC>GAC p.G346D NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 346 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 GGCTTCTTGGCCATCTGGGTG 0.547 NA 17 94 0 0 0.007413 0 0 ZNF805 390980 broad.mit.edu 37 19 57765064 57765064 + Nonsense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:57765064G>T uc010ygt.1 + 4 1084 c.877G>T c.(877-879)GGA>TGA p.G293* ZNF805_uc010ygu.1_Nonsense_Mutation_p.G160* NM_001023563 NP_001018857 Q5CZA5 ZN805_HUMAN zinc finger protein 805 isoform 1 293 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CAGTGAATGTGGAAAGGCCTT 0.493 NA 5 27 8.12818e-05 9.76344e-05 0.001984 1 0 ZNF548 147694 broad.mit.edu 37 19 57910758 57910758 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:57910758G>T uc002qom.2 + 3 1353 c.1103G>T c.(1102-1104)AGT>ATT p.S368I ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.S371I NM_152909 NP_690873 Q8NEK5 ZN548_HUMAN zinc finger protein 548 368 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TATGAGTGCAGTGTATGTGGG 0.393 NA 8 44 5.18039e-06 6.89587e-06 0.00308 1 0 ZIK1 284307 broad.mit.edu 37 19 58101972 58101972 + Missense_Mutation SNP A A G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:58101972A>G uc002qpg.2 + 4 890 c.793A>G c.(793-795)AGG>GGG p.R265G ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Missense_Mutation_p.R210G|ZIK1_uc002qpi.2_Missense_Mutation_p.R252G|ZIK1_uc002qpj.2_Missense_Mutation_p.R162G NM_001010879 NP_001010879 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 265 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TACTGGAGAAAGGCCTTGGGA 0.468 NA 5 37 0 0 0.000602 0 0 ZNF551 90233 broad.mit.edu 37 19 58196642 58196642 + Nonsense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr19:58196642G>T uc002qpw.3 + 2 269 c.46G>T c.(46-48)GAG>TAG p.E16* ZNF551_uc002qpv.3_Intron|ZNF776_uc002qpx.2_Intron NM_138347 NP_612356 Q7Z340 ZN551_HUMAN zinc finger protein 551 32 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TATGACCTTTGAGGATGTGGC 0.493 NA 19 101 1.67942e-08 2.54419e-08 0.006122 1 0 LPIN1 23175 broad.mit.edu 37 2 11922600 11922600 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:11922600G>T uc010yjn.1 + 8 1397 c.1123G>T c.(1123-1125)GCA>TCA p.A375S LPIN1_uc010yjm.1_Missense_Mutation_p.A460S|LPIN1_uc002rbt.2_Missense_Mutation_p.A375S|LPIN1_uc002rbs.2_Missense_Mutation_p.A411S NM_145693 NP_663731 Q14693 LPIN1_HUMAN lipin 1 375 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) AGTCCAGACAGCAAACAAGAC 0.522 NA 9 45 2.17888e-05 2.77312e-05 0.006214 1 0 NBAS 51594 broad.mit.edu 37 2 15358906 15358906 + Silent SNP G G A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:15358906G>A uc002rcc.1 - 48 6449 c.6423C>T c.(6421-6423)CCC>CCT p.P2141P NBAS_uc002rcb.1_Intron|NBAS_uc010exl.1_Silent_p.P1213P|NBAS_uc002rcd.1_Intron NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 2141 ovary(2)|liver(1)|skin(1) 4 CCTGTCTCTGGGGCCAGGAGG 0.343 NA 15 83 0 0 0.00499 0 0 VIT 5212 broad.mit.edu 37 2 37032694 37032694 + Nonsense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:37032694G>T uc002rpl.2 + 14 1497 c.1276G>T c.(1276-1278)GAG>TAG p.E426* VIT_uc002rpm.2_Nonsense_Mutation_p.E404*|VIT_uc010ezv.2_Nonsense_Mutation_p.E382*|VIT_uc010ezw.2_Nonsense_Mutation_p.E383* NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN vitrin 411 VWFA 1. proteinaceous extracellular matrix ovary(1)|pancreas(1) 2 all_hematologic(82;0.248) GGACAAAGTGGAGGAGGCTTC 0.498 NA 12 73 3.07112e-06 4.10156e-06 0.010729 1 0 CRIPT 9419 broad.mit.edu 37 2 46851311 46851311 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:46851311C>A uc002rve.2 + 5 348 c.251C>A c.(250-252)GCG>GAG p.A84E NM_014171 NP_054890 Q9P021 CRIPT_HUMAN postsynaptic protein CRIPT 84 cell junction|cytoplasm|dendritic spine 0 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) GGCATCTGTGCGATGTGTGGA 0.328 NA 21 93 1.55795e-14 2.96961e-14 0.012319 1 0 MSH6 2956 broad.mit.edu 37 2 48026966 48026966 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:48026966G>T uc002rwd.3 + 4 1996 c.1844G>T c.(1843-1845)TGT>TTT p.C615F MSH6_uc002rwc.2_Missense_Mutation_p.C615F|MSH6_uc010fbj.2_Missense_Mutation_p.C313F|MSH6_uc010yoi.1_Missense_Mutation_p.C485F|MSH6_uc010yoj.1_Missense_Mutation_p.C313F NM_000179 NP_000170 P52701 MSH6_HUMAN mutS homolog 6 615 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1) 168 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TCATTGTCCTGTTCTCTTCAG 0.393 NA Mis|N|F|S colorectal colorectal|endometrial|ovarian MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 6 124 0.00116845 0.00133631 0.001168 1 0 NAGK 55577 broad.mit.edu 37 2 71303832 71303832 + Splice_Site SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:71303832G>T uc002shp.3 + 8 1171 c.765_splice c.e8+1 p.P255_splice NAGK_uc010fea.2_Splice_Site|NAGK_uc002shq.3_Splice_Site_p.P106_splice|NAGK_uc002shr.2_Splice_Site_p.P204_splice NM_017567 NP_060037 Q9UJ70 NAGK_HUMAN N-Acetylglucosamine kinase N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process ATP binding|N-acetylglucosamine kinase activity|protein binding 0 N-Acetyl-D-glucosamine(DB00141) GATTGACCCGGTGAGTTGAGG 0.567 NA 3 16 6.4e-05 7.87568e-05 0.004672 1 0 DYSF 8291 broad.mit.edu 37 2 71753445 71753445 + Silent SNP G G C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:71753445G>C uc002sie.2 + 12 1525 c.1149G>C c.(1147-1149)CTG>CTC p.L383L DYSF_uc010feg.2_Silent_p.L414L|DYSF_uc010feh.2_Silent_p.L383L|DYSF_uc002sig.3_Silent_p.L383L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.L383L|DYSF_uc010fef.2_Silent_p.L414L|DYSF_uc010fei.2_Silent_p.L414L|DYSF_uc010fek.2_Silent_p.L415L|DYSF_uc010fej.2_Silent_p.L384L|DYSF_uc010fel.2_Silent_p.L384L|DYSF_uc010feo.2_Silent_p.L415L|DYSF_uc010fem.2_Silent_p.L384L|DYSF_uc010fen.2_Silent_p.L415L|DYSF_uc002sif.2_Silent_p.L384L NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 383 Cytoplasmic (Potential).|C2 3. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 ACTTCTGCCTGAAGGTCTTCC 0.657 NA 28 151 0 0 0.008361 0 0 IL1RL1 9173 broad.mit.edu 37 2 102964500 102964500 + Missense_Mutation SNP G G A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:102964500G>A uc002tbu.1 + 9 1337 c.1066G>A c.(1066-1068)GAG>AAG p.E356K IL18R1_uc002tbw.3_Intron NM_016232 NP_057316 Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 isoform 1 356 Cytoplasmic (Potential). innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity skin(2)|ovary(1)|central_nervous_system(1) 4 GTTCTGGATTGAGGCCACTCT 0.363 NA 5 67 0 0 0.001168 0 0 SLC5A7 60482 broad.mit.edu 37 2 108618444 108618444 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:108618444G>T uc002tdv.2 + 6 965 c.689G>T c.(688-690)GGA>GTA p.G230V SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.G230V|SLC5A7_uc010ywn.1_Missense_Mutation_p.G117V NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 230 Cytoplasmic (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) CCGTGGCTGGGAACTGTTGAC 0.453 NA 11 51 6.42651e-13 1.18062e-12 0.010729 1 0 IL1F9 56300 broad.mit.edu 37 2 113742478 113742478 + Missense_Mutation SNP G G A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:113742478G>A uc002tio.1 + 5 431 c.362G>A c.(361-363)CGT>CAT p.R121H IL1F9_uc010fkr.1_Missense_Mutation_p.R86H NM_019618 NP_062564 Q9NZH8 IL36G_HUMAN interleukin 1 family, member 9 121 cell-cell signaling extracellular space cytokine activity|interleukin-1 receptor antagonist activity 0 CTTTTCTACCGTGCCAAGACT 0.512 Esophageal Squamous(44;715 981 6239 42838 46707) NA 12 60 0 0 0.003163 0 0 IL1F10 84639 broad.mit.edu 37 2 113832335 113832335 + Missense_Mutation SNP C C G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:113832335C>G uc002tiu.2 + 4 229 c.154C>G c.(154-156)CGC>GGC p.R52G IL1F10_uc002tiv.2_Missense_Mutation_p.R52G|IL1F10_uc002tiw.2_Missense_Mutation_p.R44G NM_173161 NP_775184 Q8WWZ1 IL1FA_HUMAN interleukin 1 family, member 10 52 extracellular space cytokine activity|interleukin-1 receptor antagonist activity ovary(1) 1 AGGCTTGGCCCGCACCAAGGT 0.582 NA 8 99 0 0 0.012319 0 0 POTEF 728378 broad.mit.edu 37 2 130872806 130872806 + Missense_Mutation SNP T T C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:130872806T>C uc010fmh.2 - 4 1017 c.617A>G c.(616-618)AAG>AGG p.K206R NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 206 ANK 2. cell cortex ATP binding skin(3)|ovary(2) 5 AGCTGTCCTCTTTTTGTTGTC 0.403 NA 10 80 0 0 0.003163 0 0 POTEF 728378 broad.mit.edu 37 2 130877748 130877748 + Missense_Mutation SNP T T A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:130877748T>A uc010fmh.2 - 3 741 c.341A>T c.(340-342)AAG>ATG p.K114M NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 114 cell cortex ATP binding skin(3)|ovary(2) 5 CACCTTGCTCTTGCTGCTCCC 0.597 NA 12 88 0 0 0.003163 0 0 FAM123C 205147 broad.mit.edu 37 2 131519959 131519959 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:131519959C>A uc002trw.2 + 2 504 c.314C>A c.(313-315)ACG>AAG p.T105K FAM123C_uc010fmv.2_Missense_Mutation_p.T105K|FAM123C_uc010fms.1_Missense_Mutation_p.T105K|FAM123C_uc010fmt.1_Missense_Mutation_p.T105K|FAM123C_uc010fmu.1_Missense_Mutation_p.T105K NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 105 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GGCAGGGCCACGGCTGCCACA 0.662 NA 5 13 0.00116845 0.00133631 0.001168 1 0 NCKAP5 344148 broad.mit.edu 37 2 133543133 133543134 + Missense_Mutation DNP GG GG TT TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:133543133_133543134GG>TT uc002ttp.2 - 14 1624_1625 c.1250_1251CC>AA c.(1249-1251)CCC>CAA p.P417Q NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 417 protein binding 0 TCACTGATGGGGGTTCAAGTAA 0.411 NA 14 85 0 0 0.004672 0 0 LRP1B 53353 broad.mit.edu 37 2 141533673 141533673 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:141533673G>T uc002tvj.1 - 33 6466 c.5494C>A c.(5494-5496)CAG>AAG p.Q1832K NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1832 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) TTACCTTGCTGTGCTTCTTTA 0.388 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 11 98 4.68919e-08 6.9993e-08 0.008291 1 0 NEB 4703 broad.mit.edu 37 2 152551035 152551035 + Splice_Site SNP C C G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:152551035C>G uc010fnx.2 - 19 1973 c.1782_splice c.e19+1 p.D594_splice NEB_uc010fny.1_Splice_Site_p.D148_splice NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 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) GCCACACTCACATCGCTGGTG 0.507 NA 3 33 0 0 0.004672 0 0 PRPF40A 55660 broad.mit.edu 37 2 153535966 153535966 + Silent SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:153535966G>T uc002tyi.2 - 7 571 c.558C>A c.(556-558)CCC>CCA p.P186P PRPF40A_uc002tyh.3_Silent_p.P159P|PRPF40A_uc010zcd.1_Silent_p.P106P|PRPF40A_uc002tyj.2_Silent_p.P55P|PRPF40A_uc002tyl.1_Silent_p.P186P NM_017892 NP_060362 O75400 PR40A_HUMAN formin binding protein 3 186 WW 2. mRNA processing|RNA splicing nuclear matrix|nuclear speck protein binding 0 ATTCCTTCCAGGGGCATTTAG 0.328 NA 5 21 1.23904e-05 1.59193e-05 0.000602 1 0 TBR1 10716 broad.mit.edu 37 2 162274296 162274296 + Nonsense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:162274296G>T uc002ubw.1 + 2 1104 c.802G>T c.(802-804)GGA>TGA p.G268* TBR1_uc010foy.2_5'Flank NM_006593 NP_006584 Q16650 TBR1_HUMAN T-box, brain, 1 268 T-box. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 GAGGTTTCAAGGAGGCAAATG 0.413 NA 12 79 3.07112e-06 4.10156e-06 0.010729 1 0 CHRNA1 1134 broad.mit.edu 37 2 175618297 175618297 + Missense_Mutation SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:175618297C>T uc002ujd.2 - 7 865 c.787G>A c.(787-789)GTC>ATC p.V263I uc002uiw.2_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.V238I|CHRNA1_uc002ujf.3_Missense_Mutation_p.V238I NM_001039523 NP_001034612 P02708 ACHA_HUMAN nicotinic cholinergic receptor alpha 1 isoform a 263 Helical. muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity ovary(2)|central_nervous_system(1)|skin(1) 4 GGGATGATGACGTTGACGATG 0.577 NA 16 83 0 0 0.006122 0 0 PDE11A 50940 broad.mit.edu 37 2 178528660 178528660 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:178528660G>T uc002ulq.2 - 19 2898 c.2580C>A c.(2578-2580)AAC>AAA p.N860K PDE11A_uc010zfd.1_Missense_Mutation_p.N51K|PDE11A_uc002ulp.2_Missense_Mutation_p.N416K|PDE11A_uc002ulr.2_Missense_Mutation_p.N610K|PDE11A_uc002uls.1_Missense_Mutation_p.N502K|PDE11A_uc002ult.1_Missense_Mutation_p.N610K|PDE11A_uc002ulu.1_Missense_Mutation_p.N502K NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 860 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) CATCCTTCCGGTTCCGATCAA 0.453 NA Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 13 48 1.49906e-05 1.91993e-05 0.00245 1 0 CERKL 375298 broad.mit.edu 37 2 182412572 182412572 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:182412572C>A uc002unx.2 - 10 1315 c.1214G>T c.(1213-1215)AGG>ATG p.R405M CERKL_uc002uny.2_Missense_Mutation_p.R379M|CERKL_uc010zfm.1_Missense_Mutation_p.R361M|CERKL_uc002unz.2_Missense_Mutation_p.R127M|CERKL_uc002uoa.2_Missense_Mutation_p.R310M|CERKL_uc002uob.2_Missense_Mutation_p.R127M|CERKL_uc002uoc.2_Missense_Mutation_p.R266M|CERKL_uc010frk.2_Intron|CERKL_uc002uod.1_Missense_Mutation_p.R174M|CERKL_uc002unw.2_Translation_Start_Site NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN ceramide kinase-like isoform b 405 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus diacylglycerol kinase activity ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.088) TCCCTGTGCCCTCCTAAAAGA 0.393 NA 29 187 7.26314e-15 1.39096e-14 0.007291 1 0 FAM171B 165215 broad.mit.edu 37 2 187615876 187615876 + Missense_Mutation SNP A A T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:187615876A>T uc002ups.2 + 5 852 c.740A>T c.(739-741)GAA>GTA p.E247V FAM171B_uc002upr.1_Missense_Mutation_p.E247V NM_177454 NP_803237 Q6P995 F171B_HUMAN KIAA1946 247 Extracellular (Potential). integral to membrane DNA binding ovary(6)|breast(3)|central_nervous_system(1) 10 GAAAACATTGAATTGACTCCT 0.318 NA 18 126 0 0 0.014323 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187712478 187712479 + Missense_Mutation DNP CG CG TT TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:187712478_187712479CG>TT uc002upu.1 - 2 249_250 c.209_210CG>AA c.(208-210)CCG>CAA p.P70Q NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM domain containing 2 70 SWIM-type. apoptosis zinc ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) CCCCTCCTTTCGGAAATGTGGA 0.351 NA 11 93 0 0 0.004672 0 0 COL5A2 1290 broad.mit.edu 37 2 189943287 189943287 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:189943287C>A uc002uqk.2 - 16 1289 c.1014G>T c.(1012-1014)AGG>AGT p.R338S COL5A2_uc010frx.2_Intron NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 338 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) CTGGCATTCCCCTCGGACCCT 0.428 NA 26 148 3.65163e-15 7.05981e-15 0.00632 1 0 BMPR2 659 broad.mit.edu 37 2 203407114 203407114 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:203407114G>T uc002uzf.3 + 10 2505 c.1357G>T c.(1357-1359)GTG>TTG p.V453L BMPR2_uc010ftr.2_Missense_Mutation_p.V453L NM_001204 NP_001195 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor type II 453 Protein kinase.|Cytoplasmic (Potential). anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1) 9 GCAGGTTCTCGTGTCTAGGGA 0.423 NA 11 62 9.70103e-10 1.55677e-09 0.008291 1 0 VIL1 7429 broad.mit.edu 37 2 219294032 219294032 + Nonsense_Mutation SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:219294032C>T uc002via.2 + 7 657 c.592C>T c.(592-594)CGA>TGA p.R198* VIL1_uc010zke.1_Intron|VIL1_uc002vib.2_Nonsense_Mutation_p.R198*|VIL1_uc002vic.1_Nonsense_Mutation_p.R198* NM_007127 NP_009058 P09327 VILI_HUMAN villin 1 198 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity ovary(1) 1 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAAGGAGATCCGAGACCAGGA 0.622 NA 6 70 0 0 0.004482 0 0 CCDC108 255101 broad.mit.edu 37 2 219890775 219890775 + Missense_Mutation SNP T T A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:219890775T>A uc002vjl.1 - 14 2402 c.2318A>T c.(2317-2319)CAC>CTC p.H773L NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 773 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTGGGGGATGTGGTGCTCAAA 0.592 NA 6 45 0 0 0.00308 0 0 DOCK10 55619 broad.mit.edu 37 2 225710297 225710297 + Silent SNP G G A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:225710297G>A uc010fwz.1 - 20 2537 c.2298C>T c.(2296-2298)CAC>CAT p.H766H DOCK10_uc002vob.2_Silent_p.H760H NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 766 DHR-1. GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CACAGGTGACGTGATAAAAAG 0.408 NA 19 81 0 0 0.007413 0 0 GPR55 9290 broad.mit.edu 37 2 231774831 231774831 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:231774831G>T uc002vrg.2 - 2 1040 c.847C>A c.(847-849)CTG>ATG p.L283M GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.L283M NM_005683 NP_005674 Q9Y2T6 GPR55_HUMAN G protein-coupled receptor 55 283 Helical; Name=7; (Potential). activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction integral to plasma membrane cannabinoid receptor activity ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145) AAAACATCCAGGCAGCAGTTG 0.507 NA 15 81 3.45872e-05 4.37458e-05 0.004007 1 0 COL6A3 1293 broad.mit.edu 37 2 238274635 238274635 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr2:238274635G>T uc002vwl.2 - 12 5829 c.5544C>A c.(5542-5544)GAC>GAA p.D1848E COL6A3_uc002vwo.2_Missense_Mutation_p.D1642E|COL6A3_uc010znj.1_Missense_Mutation_p.D1241E NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1848 VWFA 10.|Nonhelical region. 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) AAACATTCTGGTCTCTAGAAC 0.527 NA 17 101 1.56452e-12 2.78595e-12 0.007413 1 0 PTPRA 5786 broad.mit.edu 37 20 3018722 3018722 + Silent SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr20:3018722C>T uc010zqd.1 + 23 2702 c.2385C>T c.(2383-2385)TGC>TGT p.C795C PTPRA_uc002whj.2_Silent_p.C784C|PTPRA_uc002whk.2_Silent_p.C775C|PTPRA_uc002whl.2_Silent_p.C775C|PTPRA_uc002whm.2_Silent_p.C551C|PTPRA_uc002whn.2_Silent_p.C775C|PTPRA_uc002who.2_Silent_p.C447C NM_002836 NP_002827 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A 784 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity upper_aerodigestive_tract(1) 1 ATGAGTTCTGCTACAAGGTGG 0.428 NA 15 71 0 0 0.00499 0 0 GDAP1L1 78997 broad.mit.edu 37 20 42893134 42893134 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr20:42893134G>T uc002xlq.2 + 5 762 c.695G>T c.(694-696)GGG>GTG p.G232V GDAP1L1_uc002xlp.1_Missense_Mutation_p.G232V|GDAP1L1_uc010zwl.1_Missense_Mutation_p.G251V|GDAP1L1_uc010zwm.1_Missense_Mutation_p.G174V|GDAP1L1_uc010zwn.1_Missense_Mutation_p.G40V NM_024034 NP_076939 Q96MZ0 GD1L1_HUMAN ganglioside-induced differentiation-associated 232 GST C-terminal. large_intestine(1) 1 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) AAGATCCTCGGGGAACTGGCC 0.607 NA OREG0006458 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=GDAP1L1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 5 31 5.9392e-07 8.4018e-07 0.001168 1 0 KCNB1 3745 broad.mit.edu 37 20 47989564 47989564 + Missense_Mutation SNP G G T rs35831424 TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr20:47989564G>T uc002xur.1 - 2 2697 c.2533C>A c.(2533-2535)CCA>ACA p.P845T KCNB1_uc002xus.1_Missense_Mutation_p.P845T NM_004975 NP_004966 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related 845 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CCTCCCCCTGGCAACACACGG 0.532 NA 4 37 0.00024832 0.000291381 0.009096 1 0 C20orf135 140701 broad.mit.edu 37 20 62493424 62493424 + Missense_Mutation SNP C C G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr20:62493424C>G uc002ygx.1 + 1 859 c.531C>G c.(529-531)TGC>TGG p.C177W NM_080622 NP_542189 Q9H3Z7 ABHGB_HUMAN hypothetical protein LOC140701 177 hydrolase activity 0 all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09) TCATCTGCTGCGAAGGCAACG 0.672 NA 3 11 0 0 0.009096 0 0 MYT1 4661 broad.mit.edu 37 20 62839561 62839561 + Missense_Mutation SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr20:62839561C>T uc002yii.2 + 7 1376 c.1012C>T c.(1012-1014)CCT>TCT p.P338S MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_5'UTR NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 338 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CAGTCCCAAGCCTGAGTACTC 0.552 GBM(59;481 1041 20555 21139 33705) NA 19 84 0 0 0.010504 0 0 KRTAP8-1 337879 broad.mit.edu 37 21 32185358 32185358 + Missense_Mutation SNP C C A rs140820436 by1000genomes TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr21:32185358C>A uc002you.2 - 1 213 c.181G>T c.(181-183)GCT>TCT p.A61S NM_175857 NP_787053 Q8IUC2 KRA81_HUMAN keratin associated protein 8-1 61 intermediate filament 0 CAGTAGAGAGCAAATGGCGAG 0.562 NA 17 52 7.07596e-05 8.67927e-05 0.006122 1 0 GRAP2 9402 broad.mit.edu 37 22 40366981 40366981 + Nonsense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr22:40366981G>T uc003ayh.1 + 8 1149 c.886G>T c.(886-888)GAG>TAG p.E296* GRAP2_uc003ayi.2_RNA|GRAP2_uc011aom.1_Nonsense_Mutation_p.E270*|GRAP2_uc011aon.1_Nonsense_Mutation_p.E230*|GRAP2_uc010gya.1_Nonsense_Mutation_p.E296*|GRAP2_uc011aoo.1_Nonsense_Mutation_p.E224*|GRAP2_uc011aop.1_Nonsense_Mutation_p.E256*|GRAP2_uc011aoq.1_Nonsense_Mutation_p.E183*|GRAP2_uc003ayj.1_Nonsense_Mutation_p.E296* NM_004810 NP_004801 O75791 GRAP2_HUMAN GRB2-related adaptor protein 2 296 SH3 2. cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway cytosol SH3/SH2 adaptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 CCACAGCGGGGAGGTGGTGGA 0.642 NA 10 35 4.68919e-08 6.9993e-08 0.008291 1 0 LRRC3B 116135 broad.mit.edu 37 3 26751340 26751340 + Silent SNP T T G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr3:26751340T>G uc003cdp.2 + 2 766 c.177T>G c.(175-177)CCT>CCG p.P59P LRRC3B_uc003cdq.2_Silent_p.P59P NM_052953 NP_443185 Q96PB8 LRC3B_HUMAN leucine rich repeat containing 3B precursor 59 LRRNT. integral to membrane pancreas(2)|ovary(1)|skin(1) 4 AGGAAATACCTAGAGATCTTC 0.423 NA 9 42 0 0 0.004482 0 0 TGM4 7047 broad.mit.edu 37 3 44948497 44948497 + Missense_Mutation SNP A A G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr3:44948497A>G uc003coc.3 + 10 1205 c.1132A>G c.(1132-1134)ATT>GTT p.I378V NM_003241 NP_003232 P49221 TGM4_HUMAN transglutaminase 4 (prostate) 378 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) TGACATCTTTATTGTCTATGA 0.527 NA 6 64 0 0 0.001168 0 0 OR5K3 403277 broad.mit.edu 37 3 98109906 98109906 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr3:98109906C>A uc011bgw.1 + 1 397 c.397C>A c.(397-399)CAC>AAC p.H133N NM_001005516 NP_001005516 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, 133 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ACTGCAGTACCACACCATGAT 0.468 NA 51 84 1.91693e-13 3.57006e-13 0.01441 1 0 CPNE4 131034 broad.mit.edu 37 3 131404802 131404802 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr3:131404802C>A uc003eok.2 - 6 943 c.508G>T c.(508-510)GAT>TAT p.D170Y CPNE4_uc011blq.1_Missense_Mutation_p.D188Y|CPNE4_uc003eol.2_Missense_Mutation_p.D188Y|CPNE4_uc003eom.2_Missense_Mutation_p.D170Y NM_130808 NP_570720 Q96A23 CPNE4_HUMAN copine IV 170 C2 2. upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 CTGAAGAAATCCTAAAATAGA 0.373 NA 14 29 9.31168e-06 1.23145e-05 0.001855 1 0 AADACL2 344752 broad.mit.edu 37 3 151474791 151474791 + Silent SNP T T C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr3:151474791T>C uc003ezc.2 + 5 735 c.615T>C c.(613-615)GAT>GAC p.D205D AADACL2_uc010hvn.2_5'UTR NM_207365 NP_997248 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 precursor 205 extracellular region|integral to membrane carboxylesterase activity 0 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) TGCAGAATGATGCTGAAATAA 0.313 NA 28 40 0 0 0.009535 0 0 ABCC5 10057 broad.mit.edu 37 3 183689508 183689508 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr3:183689508C>A uc003fmg.2 - 11 1769 c.1604G>T c.(1603-1605)CGC>CTC p.R535L ABCC5_uc011bqt.1_Missense_Mutation_p.R63L|ABCC5_uc010hxl.2_Missense_Mutation_p.R535L NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 535 integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) ATGCTCAGTGCGCTGCAGCTG 0.582 NA 16 38 2.4624e-09 3.89001e-09 0.008871 1 0 UBXN7 26043 broad.mit.edu 37 3 196089416 196089416 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr3:196089416C>A uc003fwm.3 - 9 1052 c.977G>T c.(976-978)AGT>ATT p.S326I UBXN7_uc003fwn.3_Missense_Mutation_p.S178I|UBXN7_uc010iae.2_Missense_Mutation_p.S164I NM_015562 NP_056377 O94888 UBXN7_HUMAN UBX domain containing 7 326 protein binding ovary(2)|pancreas(1) 3 GAACTCCTCACTGCCAGAAAA 0.428 NA 47 104 2.52991e-16 4.96204e-16 0.01441 1 0 GBA3 57733 broad.mit.edu 37 4 22749245 22749245 + Missense_Mutation SNP T T C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr4:22749245T>C uc003gqp.3 + 3 704 c.613T>C c.(613-615)TGG>CGG p.W205R GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.W206R NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 205 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 TGCCAGATCCTGGCACAGCTA 0.453 NA 26 115 0 0 0.005443 0 0 ATP8A1 10396 broad.mit.edu 37 4 42554575 42554575 + Missense_Mutation SNP G G C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr4:42554575G>C uc003gwr.2 - 17 1698 c.1466C>G c.(1465-1467)ACA>AGA p.T489R ATP8A1_uc003gws.2_Missense_Mutation_p.T474R|ATP8A1_uc011byz.1_Missense_Mutation_p.T474R NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), 489 Cytoplasmic (Potential). ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma 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 skin(2)|central_nervous_system(1) 3 Phosphatidylserine(DB00144) TGGCACTGCTGTGTGACAGAC 0.363 NA 11 68 0 0 0.001855 0 0 EPHA5 2044 broad.mit.edu 37 4 66201737 66201737 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr4:66201737C>A uc003hcy.2 - 16 2958 c.2765G>T c.(2764-2766)AGG>ATG p.R922M EPHA5_uc003hcx.2_Missense_Mutation_p.R854M|EPHA5_uc003hcz.2_Missense_Mutation_p.R900M|EPHA5_uc011cah.1_Missense_Mutation_p.R923M|EPHA5_uc011cai.1_Missense_Mutation_p.R901M|EPHA5_uc003hda.2_Missense_Mutation_p.R923M NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 922 Cytoplasmic (Potential).|Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 AAACTTGGGCCTGCTATTTCG 0.483 NA TSP Lung(17;0.13) 9 46 7.48243e-07 1.04754e-06 0.006214 1 0 UGT2B7 7364 broad.mit.edu 37 4 69962328 69962328 + Silent SNP A A T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr4:69962328A>T uc003heg.3 + 1 136 c.90A>T c.(88-90)GCA>GCT p.A30A UGT2B7_uc010ihq.2_Silent_p.A30A NM_001074 NP_001065 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2B7 precursor 30 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|skin(1) 2 TGGTGTGGGCAGCAGAATACA 0.428 NA 16 99 0 0 0.006122 0 0 EEF1A1P9 441032 broad.mit.edu 37 4 106406416 106406416 + Missense_Mutation SNP T T C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr4:106406416T>C uc003hxt.1 + 1 554 c.424T>C c.(424-426)TTT>CTT p.F142L NR_003586 SubName: Full=Eukaryotic translation elongation factor 1 alpha; Flags: Fragment; 0 CACAGTAGCATTTGTGCCAGT 0.468 NA 3 36 0 0 0.000602 0 0 ELF2 1998 broad.mit.edu 37 4 139980359 139980359 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr4:139980359C>A uc003ihp.1 - 9 1730 c.1524G>T c.(1522-1524)CAG>CAT p.Q508H ELF2_uc003ihm.1_Missense_Mutation_p.Q460H|ELF2_uc003ihn.1_Missense_Mutation_p.Q448H|ELF2_uc003iho.1_Missense_Mutation_p.Q431H|ELF2_uc011chc.1_Missense_Mutation_p.Q323H NM_201999 NP_973728 Q15723 ELF2_HUMAN E74-like factor 2 (ets domain transcription 520 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 all_hematologic(180;0.162) GAGGAGGAGTCTGGCCAGATG 0.478 NA 24 104 2.89027e-11 4.90983e-11 0.014323 1 0 RXFP1 59350 broad.mit.edu 37 4 159568062 159568062 + Missense_Mutation SNP G G A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr4:159568062G>A uc003ipz.2 + 16 1547 c.1465G>A c.(1465-1467)GGA>AGA p.G489R RXFP1_uc011cja.1_Missense_Mutation_p.G384R|RXFP1_uc010iqo.2_Missense_Mutation_p.G441R|RXFP1_uc011cjb.1_Missense_Mutation_p.G387R|RXFP1_uc010iqk.2_Missense_Mutation_p.G357R|RXFP1_uc011cjc.1_Missense_Mutation_p.G408R|RXFP1_uc011cjd.1_Missense_Mutation_p.G408R|RXFP1_uc010iql.2_Missense_Mutation_p.G333R|RXFP1_uc011cje.1_Missense_Mutation_p.G516R|RXFP1_uc010iqm.2_Missense_Mutation_p.G456R|RXFP1_uc011cjf.1_Missense_Mutation_p.G358R|RXFP1_uc010iqn.2_Missense_Mutation_p.G434R NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 489 Helical; Name=3; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) TCAGCTTGTAGGATCTTTGGC 0.388 NA 11 92 0 0 0.010729 0 0 FRG1 2483 broad.mit.edu 37 4 190883020 190883020 + Missense_Mutation SNP A A G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr4:190883020A>G uc003izs.2 + 8 864 c.673A>G c.(673-675)AAA>GAA p.K225E NM_004477 NP_004468 Q14331 FRG1_HUMAN FSHD region gene 1 225 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus 0 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) TAAAATAAGTAAAGAAGACAG 0.308 NA 22 203 0 0 0.003954 0 0 TRIP13 9319 broad.mit.edu 37 5 908506 908506 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr5:908506G>T uc003jbr.2 + 9 906 c.796G>T c.(796-798)GCG>TCG p.A266S TRIP13_uc010ite.1_Missense_Mutation_p.A266S NM_004237 NP_004228 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 266 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity 0 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) TGCCTGCAGGGCGGGCACCGA 0.562 NA 8 44 1.12685e-05 1.47107e-05 0.004482 1 0 CTNND2 1501 broad.mit.edu 37 5 11364898 11364898 + Missense_Mutation SNP C C T rs148824970 byFrequency TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr5:11364898C>T uc003jfa.1 - 8 1427 c.1282G>A c.(1282-1284)GTC>ATC p.V428I CTNND2_uc010itt.2_Missense_Mutation_p.V337I|CTNND2_uc011cmy.1_Missense_Mutation_p.V91I|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_5'UTR NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 428 ARM 1. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 TTCTGATAGACGCGGTCTTCA 0.617 NA 4 38 0 0 0.009096 0 0 DNAH5 1767 broad.mit.edu 37 5 13786382 13786382 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr5:13786382C>A uc003jfd.2 - 52 8768 c.8726G>T c.(8725-8727)CGT>CTT p.R2909L NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2909 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CATATTCAGACGCTCTTTTAG 0.433 NA Kartagener_syndrome 12 49 3.07112e-06 4.10156e-06 0.010729 1 0 CDH10 1008 broad.mit.edu 37 5 24509704 24509704 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr5:24509704C>A uc003jgr.1 - 7 1559 c.1227G>T c.(1225-1227)AGG>AGT p.R409S CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 409 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) AATCTGGGTCCCTTGCCATTA 0.313 NA HNSCC(23;0.051) 15 63 6.49762e-13 1.18297e-12 0.006122 1 0 CDH6 1004 broad.mit.edu 37 5 31294067 31294067 + Splice_Site SNP A A T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr5:31294067A>T uc003jhe.1 + 3 555 c.229_splice c.e3-2 p.L77_splice CDH6_uc003jhd.1_Splice_Site_p.L77_splice NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 TTTCTACACTAGTTACATTCA 0.328 NA 6 71 0 0 0.001984 0 0 SPEF2 79925 broad.mit.edu 37 5 35753776 35753776 + Silent SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr5:35753776G>T uc003jjo.2 + 24 3492 c.3381G>T c.(3379-3381)GCG>GCT p.A1127A SPEF2_uc003jjp.1_Silent_p.A613A NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 1127 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGGAAGAGGCGGAGCAGGAGC 0.493 NA 22 114 1.22574e-08 1.87086e-08 0.014323 1 0 SNX18 112574 broad.mit.edu 37 5 53815085 53815085 + Missense_Mutation SNP A A T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr5:53815085A>T uc003jpj.3 + 1 1493 c.1303A>T c.(1303-1305)ACC>TCC p.T435S SNX18_uc011cqg.1_Missense_Mutation_p.T435S|SNX18_uc003jpi.3_Missense_Mutation_p.T435S NM_052870 NP_443102 Q96RF0 SNX18_HUMAN sorting nexin 18 isoform b 435 BAR. cell communication|endocytosis|positive regulation of GTPase activity|protein transport endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane phosphatidylinositol binding|protein binding 0 Lung NSC(810;3.46e-05)|Breast(144;0.102) CAAGTGCTTCACCAAGAAGAT 0.607 NA 4 35 0 0 0.009096 0 0 IL31RA 133396 broad.mit.edu 37 5 55168177 55168177 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr5:55168177C>A uc003jql.2 + 4 417 c.352C>A c.(352-354)CCA>ACA p.P118T IL31RA_uc003jqk.2_Missense_Mutation_p.P118T|IL31RA_uc011cqj.1_5'UTR|IL31RA_uc003jqm.2_Missense_Mutation_p.P86T|IL31RA_uc003jqn.2_Missense_Mutation_p.P118T|IL31RA_uc010iwa.1_Missense_Mutation_p.P86T|IL31RA_uc003jqo.2_5'UTR NM_139017 NP_620586 Q8NI17 IL31R_HUMAN gp130-like monocyte receptor 86 Extracellular (Potential).|Fibronectin type-III 1. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity ovary(1) 1 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) TTTTTTCCTTCCAAGAATAAC 0.348 NA 18 63 9.16793e-09 1.4046e-08 0.00499 1 0 FTMT 94033 broad.mit.edu 37 5 121187725 121187725 + Missense_Mutation SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr5:121187725C>T uc003kss.2 + 1 76 c.67C>T c.(67-69)CGC>TGC p.R23C NM_177478 NP_803431 Q8N4E7 FTMT_HUMAN ferritin mitochondrial precursor 23 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) GCGCCCGGTGCGCTGCTGCTT 0.731 NA 5 10 0 0 0.001168 0 0 SLC23A1 9963 broad.mit.edu 37 5 138713677 138713677 + Silent SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr5:138713677G>T uc003leh.2 - 12 1537 c.1440C>A c.(1438-1440)GGC>GGA p.G480G SLC23A1_uc003leg.2_Silent_p.G484G NM_005847 NP_005838 Q9UHI7 S23A1_HUMAN solute carrier family 23 (nucleobase 480 brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) Vitamin C(DB00126) TATTGATGGCGCCAGGGTTGG 0.547 NA 3 13 6.4e-05 7.87568e-05 0.004672 1 0 UBE2D2 7322 broad.mit.edu 37 5 138994325 138994325 + Missense_Mutation SNP A A G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr5:138994325A>G uc003ler.2 + 4 790 c.164A>G c.(163-165)CAT>CGT p.H55R UBE2D2_uc003leq.2_Missense_Mutation_p.H26R NM_003339 NP_003330 P62837 UB2D2_HUMAN ubiquitin-conjugating enzyme E2D 2 isoform 1 55 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process ATP binding|protein binding|ubiquitin-protein ligase activity central_nervous_system(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TTGACAATTCATTTCCCAACA 0.313 NA 16 56 0 0 0.007413 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140753949 140753949 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr5:140753949C>A uc003ljy.1 + 1 299 c.299C>A c.(298-300)CCG>CAG p.P100Q PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.P100Q NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 100 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) GCTCAGAGCCCGCGGTGTCTG 0.512 NA 13 57 0.00010058 0.000119752 0.013537 1 0 C5orf25 375484 broad.mit.edu 37 5 175716732 175716732 + Missense_Mutation SNP A A G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr5:175716732A>G uc003mds.3 + 4 555 c.148A>G c.(148-150)AGA>GGA p.R50G C5orf25_uc003mdt.3_Intron|C5orf25_uc003mdr.3_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.R69G|uc003mdu.1_5'UTR Q8NDZ2 CE025_HUMAN RecName: Full=Uncharacterized protein C5orf25; 50 0 all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.119) TGACCTGACAAGAGCTGAGGG 0.448 NA 5 14 0 0 0.000602 0 0 DBN1 1627 broad.mit.edu 37 5 176887645 176887645 + Silent SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr5:176887645C>T uc003mgy.2 - 9 1003 c.831G>A c.(829-831)GAG>GAA p.E277E DBN1_uc011dga.1_Silent_p.E9E|DBN1_uc003mgx.2_Silent_p.E279E|DBN1_uc010jkn.1_Silent_p.E227E|DBN1_uc003mgz.1_Silent_p.E214E NM_004395 NP_004386 Q16643 DREB_HUMAN drebrin 1 isoform a 277 actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity actomyosin|cytoplasm|dendrite actin binding|profilin binding breast(3)|ovary(1)|lung(1)|skin(1) 6 all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025) 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) CAGCTCTCACCTCCACCTCCG 0.607 NA 5 39 0 0 0.001168 0 0 DUSP22 56940 broad.mit.edu 37 6 348145 348145 + Silent SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr6:348145C>T uc003msx.2 + 6 745 c.306C>T c.(304-306)TAC>TAT p.Y102Y DUSP22_uc011dhn.1_Silent_p.Y102Y|DUSP22_uc003msy.1_Silent_p.Y59Y NM_020185 NP_064570 Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 102 Tyrosine-protein phosphatase. apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) TGATCGCATACATCATGACCG 0.612 NA 12 134 0 0 0.001855 0 0 BMP6 654 broad.mit.edu 37 6 7727541 7727541 + Missense_Mutation SNP A A T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr6:7727541A>T uc003mxu.3 + 1 531 c.353A>T c.(352-354)CAG>CTG p.Q118L NM_001718 NP_001709 P22004 BMP6_HUMAN bone morphogenetic protein 6 preproprotein 118 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity large_intestine(2)|ovary(1) 3 Ovarian(93;0.0721) cagcagcagcagcTGCCTCGC 0.622 NA 3 14 0 0 0.004672 0 0 DAXX 1616 broad.mit.edu 37 6 33287401 33287401 + Missense_Mutation SNP G G A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr6:33287401G>A uc003oec.2 - 6 1900 c.1696C>T c.(1696-1698)CTC>TTC p.L566F ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Missense_Mutation_p.L491F|DAXX_uc011dre.1_Missense_Mutation_p.L578F|DAXX_uc003oed.2_Missense_Mutation_p.L566F NM_001350 NP_001341 Q9UER7 DAXX_HUMAN death-domain associated protein isoform a 566 Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding pancreas(18)|ovary(2)|skin(2)|prostate(1) 23 AGCTCAAAGAGCTGAGACACA 0.542 NA Mis|F|N Pancreatic neuroendocrine tumors 31 65 0 0 0.008361 0 0 PNPLA1 285848 broad.mit.edu 37 6 36274107 36274107 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr6:36274107G>T uc010jwf.2 + 7 1423 c.1423G>T c.(1423-1425)GTG>TTG p.V475L PNPLA1_uc003olw.1_Missense_Mutation_p.V380L|PNPLA1_uc010jwe.1_Missense_Mutation_p.V389L NM_001145717 NP_001139189 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 475 lipid catabolic process hydrolase activity large_intestine(1)|pancreas(1)|breast(1)|skin(1) 4 AAAAAGCGCCGTGCCTCTGGT 0.478 NA 28 120 1.39649e-27 2.87804e-27 0.012213 1 0 XPO5 57510 broad.mit.edu 37 6 43538667 43538667 + Missense_Mutation SNP T T A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr6:43538667T>A uc003ovp.2 - 4 576 c.365A>T c.(364-366)GAA>GTA p.E122V NM_020750 NP_065801 Q9HAV4 XPO5_HUMAN exportin 5 122 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding skin(2)|breast(1)|kidney(1) 4 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) CTTGATCATTTCCACTACAAT 0.398 NA 43 97 0 0 0.009718 0 0 RHAG 6005 broad.mit.edu 37 6 49586929 49586929 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr6:49586929G>T uc003ozk.3 - 2 366 c.304C>A c.(304-306)CAA>AAA p.Q102K RHAG_uc010jzl.2_Missense_Mutation_p.Q102K|RHAG_uc010jzm.2_Missense_Mutation_p.Q102K NM_000324 NP_000315 Q02094 RHAG_HUMAN Rh-associated glycoprotein 102 Extracellular (Potential). carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|skin(1) 2 Lung NSC(77;0.0255) CCCTGGCTTTGCAGGATTCCC 0.348 Ovarian(176;476 2003 7720 43408 44749) NA 14 47 4.7546e-09 7.4245e-09 0.004007 1 0 C6orf221 154288 broad.mit.edu 37 6 74073549 74073549 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr6:74073549G>T uc003pgt.3 + 3 673 c.620G>T c.(619-621)CGC>CTC p.R207L NM_001017361 NP_001017361 Q587J8 ECAT1_HUMAN hypothetical protein LOC154288 207 skin(2) 2 CAGCGGTTTCGCGAGGATGCC 0.622 NA 8 29 3.09899e-07 4.47754e-07 0.004482 1 0 ZNF292 23036 broad.mit.edu 37 6 87967002 87967002 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr6:87967002G>T uc003plm.3 + 8 3696 c.3655G>T c.(3655-3657)GAT>TAT p.D1219Y NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 1219 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) AACTTCTCAGGATAAAAATGA 0.398 NA 11 15 1.58986e-06 2.15881e-06 0.008291 1 0 BCLAF1 9774 broad.mit.edu 37 6 136597526 136597526 + Silent SNP T T C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr6:136597526T>C uc003qgx.1 - 5 1390 c.1137A>G c.(1135-1137)GAA>GAG p.E379E BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Silent_p.E377E|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.E377E NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 379 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) AATCTAGAGCTTCCTGATCTT 0.428 Colon(142;1534 1789 5427 7063 28491) NA 37 472 0 0 0.00623 0 0 ABCB5 340273 broad.mit.edu 37 7 20739552 20739552 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:20739552G>T uc003suw.3 + 9 1470 c.924G>T c.(922-924)CAG>CAT p.Q308H ABCB5_uc010kuh.2_Missense_Mutation_p.Q753H NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 308 Helical; (Potential).|ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 ATTTCATGCAGGTAAGCTTTT 0.289 NA 6 32 0.00198382 0.00223731 0.001984 1 0 HOXA1 3198 broad.mit.edu 37 7 27135409 27135409 + Silent SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:27135409C>A uc003sye.2 - 1 217 c.123G>T c.(121-123)GCG>GCT p.A41A HOXA1_uc003syd.2_Silent_p.A41A|uc003syg.2_5'Flank NM_005522 NP_005513 P49639 HXA1_HUMAN homeobox A1 isoform a 41 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3) 3 TGGCGCTGACCGCGCACGACT 0.532 NA OREG0003750 type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 8 39 7.48243e-07 1.04754e-06 0.006214 1 0 PSPH 5723 broad.mit.edu 37 7 56087349 56087349 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:56087349C>A uc003trg.2 - 4 582 c.219G>T c.(217-219)AGG>AGT p.R73S PSPH_uc003trh.2_Missense_Mutation_p.R73S|PSPH_uc003tri.2_Missense_Mutation_p.R73S|PSPH_uc003trj.2_Missense_Mutation_p.R102S NM_004577 NP_004568 P78330 SERB_HUMAN phosphoserine phosphatase 73 L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity ovary(1)|skin(1) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GCACCTGCTCCCTGGAGGGCT 0.607 NA 5 32 1.23904e-05 1.59193e-05 0.000602 1 0 PSPH 5723 broad.mit.edu 37 7 56087351 56087351 + Missense_Mutation SNP T T A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:56087351T>A uc003trg.2 - 4 580 c.217A>T c.(217-219)AGG>TGG p.R73W PSPH_uc003trh.2_Missense_Mutation_p.R73W|PSPH_uc003tri.2_Missense_Mutation_p.R73W|PSPH_uc003trj.2_Missense_Mutation_p.R102W NM_004577 NP_004568 P78330 SERB_HUMAN phosphoserine phosphatase 73 L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity ovary(1)|skin(1) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ACCTGCTCCCTGGAGGGCTGG 0.607 NA 5 31 0 0 0.000602 0 0 ZNF479 90827 broad.mit.edu 37 7 57188426 57188426 + Missense_Mutation SNP T T A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:57188426T>A uc010kzo.2 - 5 967 c.696A>T c.(694-696)AAA>AAT p.K232N NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 232 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) TATGAATTATTTTATGTGTAG 0.383 NA 4 24 0 0 0.001168 0 0 PCLO 27445 broad.mit.edu 37 7 82583854 82583854 + Missense_Mutation SNP C C G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:82583854C>G uc003uhx.2 - 5 6704 c.6415G>C c.(6415-6417)GAA>CAA p.E2139Q PCLO_uc003uhv.2_Missense_Mutation_p.E2139Q NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2070 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TCAATTTCTTCTGTTGAAAAA 0.393 NA 11 44 0 0 0.010729 0 0 SEMA3A 10371 broad.mit.edu 37 7 83636733 83636733 + Missense_Mutation SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:83636733C>T uc003uhz.2 - 10 1391 c.1076G>A c.(1075-1077)AGG>AAG p.R359K NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 359 Sema. axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 GGGTCCATCCCTGTGGGCATA 0.438 NA 36 73 0 0 0.004878 0 0 MGC26647 219557 broad.mit.edu 37 7 88424136 88424136 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:88424136G>T uc003ujv.2 - 2 303 c.121C>A c.(121-123)CAC>AAC p.H41N ZNF804B_uc011khi.1_Intron NM_152706 NP_689919 Q8TBZ9 CG062_HUMAN hypothetical protein LOC219557 41 0 Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169) STAD - Stomach adenocarcinoma(171;0.229) TTCTTTAGGTGTAGTCGTTGT 0.408 NA 34 133 1.836e-18 3.63618e-18 0.003755 1 0 AKAP9 10142 broad.mit.edu 37 7 91712731 91712731 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:91712731G>T uc003ulg.2 + 33 8633 c.8408G>T c.(8407-8409)GGA>GTA p.G2803V AKAP9_uc003ulf.2_Missense_Mutation_p.G2795V|AKAP9_uc003uli.2_Missense_Mutation_p.G2426V|AKAP9_uc003ulj.2_Missense_Mutation_p.G573V|AKAP9_uc003ulk.2_Missense_Mutation_p.G78V NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 2815 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AAAAATGCAGGAATACAAATT 0.358 NA T BRAF papillary thyroid 15 56 4.93089e-13 9.14129e-13 0.00245 1 0 SAMD9 54809 broad.mit.edu 37 7 92733294 92733294 + Missense_Mutation SNP A A T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:92733294A>T uc003umf.2 - 3 2373 c.2117T>A c.(2116-2118)GTC>GAC p.V706D SAMD9_uc003umg.2_Missense_Mutation_p.V706D NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 706 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) ATCCCTTTTGACAAAAGGTGA 0.358 NA 56 145 0 0 0.01441 0 0 COL1A2 1278 broad.mit.edu 37 7 94057003 94057003 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:94057003G>T uc003ung.1 + 49 3803 c.3332G>T c.(3331-3333)GGT>GTT p.G1111V COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 1111 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TATGACTTTGGTTACGATGGA 0.537 NA HNSCC(75;0.22) 29 75 2.24059e-21 4.54841e-21 0.00632 1 0 TAC1 6863 broad.mit.edu 37 7 97362026 97362026 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:97362026G>T uc003uop.3 + 2 348 c.102G>T c.(100-102)TGG>TGT p.W34C TAC1_uc003uoq.3_Missense_Mutation_p.W34C|TAC1_uc003uor.3_Missense_Mutation_p.W34C|TAC1_uc003uos.3_Missense_Mutation_p.W34C NM_003182 NP_003173 P20366 TKN1_HUMAN tachykinin 1 isoform beta precursor 34 detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway extracellular space 0 all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384) Bacitracin(DB00626) GGTCCGACTGGTACGACAGCG 0.547 NA 22 60 1.50039e-11 2.58118e-11 0.012319 1 0 EMID2 136227 broad.mit.edu 37 7 101090977 101090977 + Silent SNP G G A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:101090977G>A uc010lhy.1 + 3 480 c.288G>A c.(286-288)CTG>CTA p.L96L EMID2_uc003uyo.1_Silent_p.L98L NM_133457 NP_597714 Q96A83 EMID2_HUMAN EMI domain containing 2 98 EMI. collagen ovary(1) 1 Lung NSC(181;0.215) ACAGGACTCTGATCAGACCCA 0.592 NA 3 7 0 0 0.004672 0 0 FBXL13 222235 broad.mit.edu 37 7 102667916 102667916 + Missense_Mutation SNP T T C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:102667916T>C uc003vaq.2 - 5 734 c.307A>G c.(307-309)AAA>GAA p.K103E FBXL13_uc010liq.1_5'Flank|FBXL13_uc010lir.1_Missense_Mutation_p.K103E|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.K103E|FBXL13_uc003vav.2_RNA NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 isoform 103 0 TCTTTCTTTTTACTCTTATGT 0.333 NA 13 74 0 0 0.003163 0 0 SLC26A3 1811 broad.mit.edu 37 7 107427872 107427872 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:107427872G>T uc003ver.2 - 7 1029 c.818C>A c.(817-819)TCC>TAC p.S273Y SLC26A3_uc003ves.2_Missense_Mutation_p.S238Y NM_000111 NP_000102 P40879 S26A3_HUMAN solute carrier family 26, member 3 273 Helical; (Potential). excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity ovary(3)|skin(1) 4 TTTAACAATGGATACAACCAA 0.348 NA 30 158 5.45727e-16 1.06012e-15 0.008361 1 0 NRCAM 4897 broad.mit.edu 37 7 107871486 107871486 + Nonsense_Mutation SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:107871486C>T uc003vfb.2 - 8 1010 c.539G>A c.(538-540)TGG>TAG p.W180* NRCAM_uc003vfc.2_Nonsense_Mutation_p.W174*|NRCAM_uc011kmk.1_Nonsense_Mutation_p.W175*|NRCAM_uc003vfd.2_Nonsense_Mutation_p.W175*|NRCAM_uc003vfe.2_Nonsense_Mutation_p.W175* NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A 180 Ig-like 2.|Extracellular (Potential). angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding ovary(3)|breast(2) 5 ATTATCCATCCAAAATATTAT 0.323 NA 4 56 0 0 0.009096 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518073 113518073 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:113518073C>A uc010ljy.1 - 4 3105 c.3074G>T c.(3073-3075)AGG>ATG p.R1025M NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 1025 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 ATTTTCATGCCTTGCTTCTTC 0.398 NA 34 222 1.61788e-16 3.18864e-16 0.012213 1 0 WASL 8976 broad.mit.edu 37 7 123349179 123349179 + Silent SNP T T C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:123349179T>C uc003vkz.2 - 2 544 c.216A>G c.(214-216)CCA>CCG p.P72P NM_003941 NP_003932 O00401 WASL_HUMAN Wiskott-Aldrich syndrome gene-like protein 72 WH1. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity 0 AAGATCTCTGTGGATTGTCCT 0.343 NA 22 46 0 0 0.012319 0 0 POT1 25913 broad.mit.edu 37 7 124503540 124503540 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:124503540C>A uc003vlm.2 - 8 1011 c.410G>T c.(409-411)CGT>CTT p.R137L POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.R6L|POT1_uc003vln.2_RNA NM_015450 NP_056265 Q9NUX5 POTE1_HUMAN protection of telomeres 1 isoform 1 137 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity central_nervous_system(1) 1 TGCCCAAACACGTAAGGCTTC 0.438 Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642) NA 51 114 9.57592e-29 2.00403e-28 0.01441 1 0 POT1 25913 broad.mit.edu 37 7 124510993 124510993 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:124510993C>A uc003vlm.2 - 7 828 c.227G>T c.(226-228)GGA>GTA p.G76V POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Intron|POT1_uc003vln.2_RNA NM_015450 NP_056265 Q9NUX5 POTE1_HUMAN protection of telomeres 1 isoform 1 76 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity central_nervous_system(1) 1 AACAATATCTCCATTTTTATA 0.333 Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642) NA 14 89 2.61681e-11 4.46398e-11 0.00245 1 0 CPA2 1358 broad.mit.edu 37 7 129919383 129919383 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:129919383G>T uc003vpq.2 + 9 887 c.868G>T c.(868-870)GTG>TTG p.V290L NM_001869 NP_001860 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) precursor 290 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) GAAATCCATAGTGGACTTCAT 0.493 NA 23 63 3.5997e-14 6.82934e-14 0.014323 1 0 NUP205 23165 broad.mit.edu 37 7 135311040 135311040 + Missense_Mutation SNP G G C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:135311040G>C uc003vsw.2 + 33 4755 c.4724G>C c.(4723-4725)AGA>ACA p.R1575T NUP205_uc003vsx.2_RNA NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1575 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 GAGCTGCTAAGATCAGGGGTG 0.443 NA 27 79 0 0 0.005443 0 0 EPHB6 2051 broad.mit.edu 37 7 142562114 142562114 + Missense_Mutation SNP G G C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:142562114G>C uc011kst.1 + 7 1343 c.556G>C c.(556-558)GCT>CCT p.A186P EPHB6_uc011ksu.1_Missense_Mutation_p.A186P|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_Intron|EPHB6_uc003wbu.2_5'UTR|EPHB6_uc003wbv.2_5'Flank NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 186 Extracellular (Potential). extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) ACCCCACGGGGCTGGGCAGCG 0.532 NA 38 297 0 0 0.013114 0 0 OR2F1 26211 broad.mit.edu 37 7 143657537 143657537 + Silent SNP G G C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:143657537G>C uc003wds.1 + 1 518 c.474G>C c.(472-474)GTG>GTC p.V158V NM_012369 NP_036501 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Melanoma(164;0.0903) GCTCTCCTGTGCAGACTGCTA 0.527 NA 19 46 0 0 0.008871 0 0 OR2A14 135941 broad.mit.edu 37 7 143827061 143827061 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:143827061C>A uc011kua.1 + 1 856 c.856C>A c.(856-858)CCC>ACC p.P286T NM_001001659 NP_001001659 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, 286 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) AATGCTGAACCCCCTGATATA 0.542 NA 41 171 1.15183e-24 2.34997e-24 0.009718 1 0 C7orf33 202865 broad.mit.edu 37 7 148312477 148312477 + Missense_Mutation SNP G G A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:148312477G>A uc003wew.2 + 3 879 c.518G>A c.(517-519)AGA>AAA p.R173K NM_145304 NP_660347 Q8WU49 CG033_HUMAN hypothetical protein LOC202865 173 central_nervous_system(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) AGGATTTCCAGAACTGACAGC 0.383 NA 16 116 0 0 0.00499 0 0 C7orf29 113763 broad.mit.edu 37 7 150027589 150027589 + Silent SNP A A G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:150027589A>G uc003wgy.2 + 1 652 c.96A>G c.(94-96)ACA>ACG p.T32T LRRC61_uc003wgv.2_Intron|LRRC61_uc003wgx.2_Intron|LRRC61_uc003wgw.2_Intron NM_138434 NP_612443 Q96FA7 CG029_HUMAN hypothetical protein LOC113763 32 ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.011) AGGTTCACACACACTTTCAGG 0.642 NA 36 162 0 0 0.00623 0 0 UBE3C 9690 broad.mit.edu 37 7 157000138 157000138 + Missense_Mutation SNP T T A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr7:157000138T>A uc010lqs.2 + 12 1777 c.1465T>A c.(1465-1467)TCT>ACT p.S489T UBE3C_uc003wng.2_Missense_Mutation_p.S489T NM_014671 NP_055486 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 489 protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(2)|large_intestine(1) 5 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) TTCTCCTATGTCTTTTGAAGA 0.348 NA 24 194 0 0 0.003954 0 0 MYOM2 9172 broad.mit.edu 37 8 2020568 2020568 + Missense_Mutation SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr8:2020568C>T uc003wpx.3 + 9 1075 c.937C>T c.(937-939)CGC>TGC p.R313C MYOM2_uc011kwi.1_Intron NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 313 Ig-like C2-type 2. muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) GGTGCAGCCGCGCGCCGAGTG 0.592 NA 5 17 0 0 0.001984 0 0 MYOM2 9172 broad.mit.edu 37 8 2057201 2057201 + Nonsense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr8:2057201C>A uc003wpx.3 + 25 3197 c.3059C>A c.(3058-3060)TCG>TAG p.S1020* MYOM2_uc011kwi.1_Nonsense_Mutation_p.S445* NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 1020 muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CCTCTGAAATCGGAATTAGCT 0.413 NA 9 34 0.000442599 0.000514886 0.006214 1 0 RP1L1 94137 broad.mit.edu 37 8 10468155 10468155 + Silent SNP G G C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr8:10468155G>C uc003wtc.2 - 4 3682 c.3453C>G c.(3451-3453)CTC>CTG p.L1151L NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1151 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TCGAGATGCTGAGCAGCTCCT 0.567 NA 4 43 0 0 0.009096 0 0 CSGALNACT1 55790 broad.mit.edu 37 8 19362786 19362786 + Missense_Mutation SNP G G C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr8:19362786G>C uc011kyn.1 - 4 1624 c.560C>G c.(559-561)GCC>GGC p.A187G CSGALNACT1_uc011kyo.1_Missense_Mutation_p.A187G|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.A186G|CSGALNACT1_uc003wzh.2_RNA NM_001130518 NP_001123990 Q8TDX6 CGAT1_HUMAN chondroitin sulfate 187 Lumenal (Potential). anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity central_nervous_system(2)|ovary(1) 3 Colorectal(111;0.182) GGTCTCCAAGGCTGATTCAAT 0.542 NA 6 49 0 0 0.001984 0 0 SCARA5 286133 broad.mit.edu 37 8 27737266 27737266 + Missense_Mutation SNP T T C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr8:27737266T>C uc003xgj.2 - 8 1611 c.1171A>G c.(1171-1173)ATG>GTG p.M391V SCARA5_uc010luz.2_Missense_Mutation_p.M166V NM_173833 NP_776194 Q6ZMJ2 SCAR5_HUMAN scavenger receptor class A, member 5 391 Extracellular (Potential). cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity central_nervous_system(1)|skin(1) 2 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) CGGATCATCATCGGGGCCTCC 0.657 NA 5 14 0 0 0.001168 0 0 KCNU1 157855 broad.mit.edu 37 8 36663793 36663793 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr8:36663793G>T uc010lvw.2 + 5 562 c.475G>T c.(475-477)GCA>TCA p.A159S KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 159 Helical; Name=Segment S2; (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) ATAGTTTATGGCAGCTGATGA 0.338 NA 5 20 0.000602214 0.000696578 0.000602 1 0 PXDNL 137902 broad.mit.edu 37 8 52325734 52325734 + Missense_Mutation SNP G G C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr8:52325734G>C uc003xqu.3 - 15 1981 c.1880C>G c.(1879-1881)TCC>TGC p.S627C NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 627 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TCTTCGTGTGGAGTTAATTGC 0.348 NA 13 42 0 0 0.003163 0 0 CSMD3 114788 broad.mit.edu 37 8 113299383 113299383 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr8:113299383C>A uc003ynu.2 - 58 9400 c.9241G>T c.(9241-9243)GCT>TCT p.A3081S CSMD3_uc003yns.2_Missense_Mutation_p.A2283S|CSMD3_uc003ynt.2_Missense_Mutation_p.A3041S|CSMD3_uc011lhx.1_Missense_Mutation_p.A2912S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3081 Extracellular (Potential).|Sushi 22. 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 GTATCACAAGCATAACGTACA 0.468 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 24 86 4.26978e-12 7.50446e-12 0.00333 1 0 COL22A1 169044 broad.mit.edu 37 8 139609156 139609156 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr8:139609156G>T uc003yvd.2 - 62 4870 c.4423C>A c.(4423-4425)CAG>AAG p.Q1475K COL22A1_uc011ljo.1_Missense_Mutation_p.Q755K NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1475 Pro-rich.|Gly-rich. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTTTCAAGCTGCTTCCCCAGC 0.507 NA HNSCC(7;0.00092) 68 183 5.41795e-27 1.11095e-26 0.01441 1 0 GSDMD 79792 broad.mit.edu 37 8 144641996 144641996 + Missense_Mutation SNP G G C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr8:144641996G>C uc010mfe.2 + 6 970 c.267G>C c.(265-267)CAG>CAC p.Q89H uc003yye.2_5'Flank|GSDMD_uc003yyf.2_Missense_Mutation_p.Q137H|GSDMD_uc003yyi.2_Missense_Mutation_p.Q89H|GSDMD_uc003yyg.2_Missense_Mutation_p.Q89H|GSDMD_uc003yyh.2_Intron NM_024736 NP_079012 P57764 GSDMD_HUMAN gasdermin D 89 0 TGGATGGGCAGATACAGGGCA 0.642 NA 4 23 0 0 0.001168 0 0 PDCD1LG2 80380 broad.mit.edu 37 9 5534764 5534764 + Silent SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr9:5534764C>A uc003zjg.3 + 3 348 c.75C>A c.(73-75)GTC>GTA p.V25V C9orf46_uc003zjd.2_Intron|PDCD1LG2_uc011lmc.1_Silent_p.V25V|PDCD1LG2_uc011lmd.1_Silent_p.V25V|PDCD1LG2_uc010mhp.1_Silent_p.V25V|PDCD1LG2_uc010mho.1_Silent_p.V25V NM_025239 NP_079515 Q9BQ51 PD1L2_HUMAN programmed cell death 1 ligand 2 precursor 25 Ig-like V-type.|Extracellular (Potential). immune response|T cell costimulation endomembrane system|extracellular region|integral to membrane|plasma membrane receptor activity 0 all_hematologic(13;0.158) Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112) CAGTGACAGTCCCTAAGGAAC 0.408 NA 8 58 3.09899e-07 4.47754e-07 0.004482 1 0 PTPRD 5789 broad.mit.edu 37 9 8465644 8465644 + Missense_Mutation SNP C C G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr9:8465644C>G uc003zkk.2 - 31 4247 c.3536G>C c.(3535-3537)AGC>ACC p.S1179T PTPRD_uc003zkp.2_Missense_Mutation_p.S768T|PTPRD_uc003zkq.2_Missense_Mutation_p.S768T|PTPRD_uc003zkr.2_Missense_Mutation_p.S763T|PTPRD_uc003zks.2_Missense_Mutation_p.S758T|PTPRD_uc003zkl.2_Missense_Mutation_p.S1170T|PTPRD_uc003zkm.2_Missense_Mutation_p.S1166T|PTPRD_uc003zkn.2_Missense_Mutation_p.S768T|PTPRD_uc003zko.2_Missense_Mutation_p.S765T NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1179 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) ATAACGGATGCTTCTGCGCTT 0.398 NA TSP Lung(15;0.13) 9 79 0 0 0.013537 0 0 C9orf150 286343 broad.mit.edu 37 9 12821419 12821419 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr9:12821419G>T uc003zkw.2 + 2 1050 c.347G>T c.(346-348)CGC>CTC p.R116L NM_203403 NP_981948 Q8IV03 CI150_HUMAN hypothetical protein LOC286343 119 0 GBM - Glioblastoma multiforme(1;1.64e-13) AGGCTCATGCGCCAGTTGCTT 0.483 NA 28 145 4.87955e-14 9.17175e-14 0.005443 1 0 FRMPD1 22844 broad.mit.edu 37 9 37746166 37746166 + Silent SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr9:37746166C>A uc004aag.1 + 16 4181 c.4137C>A c.(4135-4137)CCC>CCA p.P1379P FRMPD1_uc004aah.1_Silent_p.P1379P NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1379 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) TGGTTCTGCCCTGGAGGCCTG 0.652 NA 16 70 1.3612e-06 1.86706e-06 0.003163 1 0 PCSK5 5125 broad.mit.edu 37 9 78601129 78601129 + Missense_Mutation SNP A A G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr9:78601129A>G uc004ajz.2 + 3 917 c.379A>G c.(379-381)AAT>GAT p.N127D PCSK5_uc004ajy.2_Missense_Mutation_p.N127D|PCSK5_uc004aka.2_RNA NM_006200 NP_006191 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 127 Catalytic. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 TACCTATTTCAATGATCCCAA 0.473 NA 14 67 0 0 0.006122 0 0 PRUNE2 158471 broad.mit.edu 37 9 79321909 79321909 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr9:79321909G>T uc010mpk.2 - 8 5405 c.5281C>A c.(5281-5283)CAA>AAA p.Q1761K PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 1761 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 GGGCTGCTTTGTTGATTGTCA 0.448 NA 5 46 8.12818e-05 9.76344e-05 0.001984 1 0 VPS13A 23230 broad.mit.edu 37 9 79933209 79933209 + Missense_Mutation SNP A A C TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr9:79933209A>C uc004akr.2 + 41 5275 c.5015A>C c.(5014-5016)AAG>ACG p.K1672T VPS13A_uc004akp.3_Missense_Mutation_p.K1672T|VPS13A_uc004akq.3_Missense_Mutation_p.K1672T|VPS13A_uc004aks.2_Missense_Mutation_p.K1633T|VPS13A_uc004akt.2_Missense_Mutation_p.K12T|VPS13A_uc010mpo.1_Missense_Mutation_p.K268T NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 1672 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 TATACAACTAAGGAAACCATC 0.308 NA 16 87 0 0 0.006122 0 0 ERP44 23071 broad.mit.edu 37 9 102778708 102778708 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr9:102778708C>A uc004bam.2 - 8 866 c.658G>T c.(658-660)GAT>TAT p.D220Y ERP44_uc010msy.2_RNA|ERP44_uc010msz.2_Missense_Mutation_p.D220Y NM_015051 NP_055866 Q9BS26 ERP44_HUMAN thioredoxin domain containing 4 (endoplasmic 220 cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment protein binding|protein disulfide isomerase activity 0 TACACCATATCCGGAGCAGAA 0.279 NA 10 51 0.00829132 0.00907352 0.008291 1 0 AKNA 80709 broad.mit.edu 37 9 117124771 117124771 + Missense_Mutation SNP C C G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr9:117124771C>G uc004biq.3 - 7 1966 c.1831G>C c.(1831-1833)GAG>CAG p.E611Q AKNA_uc004bin.3_5'Flank|AKNA_uc004bio.3_Missense_Mutation_p.E71Q|AKNA_uc004bip.3_Missense_Mutation_p.E530Q|AKNA_uc004bir.3_Missense_Mutation_p.E611Q|AKNA_uc004bis.3_Missense_Mutation_p.E611Q|AKNA_uc010mve.2_Missense_Mutation_p.E492Q|AKNA_uc004biu.1_Missense_Mutation_p.E352Q|AKNA_uc004biv.1_Missense_Mutation_p.E611Q NM_030767 NP_110394 Q7Z591 AKNA_HUMAN AT-hook transcription factor 611 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(2) 6 TTCAGGTACTCCTCCTCTAGG 0.652 NA 3 7 0 0 0.004672 0 0 DBC1 1620 broad.mit.edu 37 9 122075577 122075577 + Silent SNP T T A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr9:122075577T>A uc004bkc.2 - 2 513 c.57A>T c.(55-57)TCA>TCT p.S19S DBC1_uc004bkd.2_Silent_p.S19S NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 19 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 AGGGCTGCACTGAGATACGGC 0.512 NA 23 68 0 0 0.00333 0 0 OR1J1 347168 broad.mit.edu 37 9 125239270 125239270 + Silent SNP A A G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr9:125239270A>G uc011lyu.1 - 1 936 c.936T>C c.(934-936)GCT>GCC p.A312A OR1J2_uc004bmj.1_Intron NM_001004451 NP_001004451 Q8NGS3 OR1J1_HUMAN olfactory receptor, family 1, subfamily J, 312 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 tacaggcatgagccactgcgc 0.169 NA 3 74 0 0 0.004672 0 0 LRSAM1 90678 broad.mit.edu 37 9 130251778 130251778 + Missense_Mutation SNP A A G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr9:130251778A>G uc004brb.1 + 19 1748 c.1403A>G c.(1402-1404)CAT>CGT p.H468R LRSAM1_uc010mxk.1_Missense_Mutation_p.H468R|LRSAM1_uc004brc.1_Missense_Mutation_p.H468R|LRSAM1_uc004brd.1_Missense_Mutation_p.H468R|LRSAM1_uc004bre.1_Missense_Mutation_p.H48R NM_001005373 NP_001005373 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif 468 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding 0 GACCTGATGCATCGGCAGATC 0.647 NA 3 8 0 0 0.004672 0 0 C9orf171 389799 broad.mit.edu 37 9 135447819 135447819 + Silent SNP G G A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr9:135447819G>A uc004cbn.2 + 7 933 c.885G>A c.(883-885)CAG>CAA p.Q295Q C9orf171_uc004cbo.2_Silent_p.Q259Q NM_207417 NP_997300 Q6ZQR2 CI171_HUMAN hypothetical protein LOC389799 295 ovary(4)|large_intestine(1) 5 CCGATCGCCAGAGAGCATTAA 0.627 NA 11 34 0 0 0.00245 0 0 FCN2 2220 broad.mit.edu 37 9 137777622 137777622 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr9:137777622G>T uc004cfg.1 + 6 448 c.438G>T c.(436-438)CAG>CAT p.Q146H FCN2_uc004cfh.1_Missense_Mutation_p.Q108H NM_004108 NP_004099 Q15485 FCN2_HUMAN ficolin 2 isoform a precursor 146 Fibrinogen C-terminal. complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding large_intestine(1) 1 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) AGGTTTTCCAGCGGAGGGTGG 0.652 NA 6 42 8.12818e-05 9.76344e-05 0.001984 1 0 OLFM1 10439 broad.mit.edu 37 9 138011774 138011775 + Missense_Mutation DNP GG GG TT TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr9:138011774_138011775GG>TT uc010nar.2 + 6 1524_1525 c.1208_1209GG>TT c.(1207-1209)GGG>GTT p.G403V OLFM1_uc004cfl.3_Missense_Mutation_p.G385V|OLFM1_uc004cfn.3_Missense_Mutation_p.G154V NM_014279 NP_055094 Q99784 NOE1_HUMAN olfactomedin related ER localized protein 403 Olfactomedin-like. nervous system development endoplasmic reticulum lumen protein binding ovary(1)|skin(1) 2 Myeloproliferative disorder(178;0.0333) Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07) CGCAGCGCCGGGGAGGCCTTCA 0.599 NA 4 34 0 0 0.004672 0 0 PNPLA7 375775 broad.mit.edu 37 9 140389498 140389498 + Missense_Mutation SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr9:140389498C>T uc004cnf.2 - 18 2376 c.2039G>A c.(2038-2040)CGC>CAC p.R680H C9orf167_uc011mew.1_Intron|PNPLA7_uc011mfa.1_Intron|PNPLA7_uc010ncj.1_Missense_Mutation_p.R705H NM_152286 NP_689499 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 680 cNMP 3. lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity skin(1) 1 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) TGGGTACCTGCGCTTGATGGA 0.537 NA 11 41 0 0 0.008291 0 0 FRMPD4 9758 broad.mit.edu 37 X 12708435 12708435 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chrX:12708435C>A uc004cuz.1 + 8 1309 c.803C>A c.(802-804)ACT>AAT p.T268N FRMPD4_uc011mij.1_Missense_Mutation_p.T260N NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 268 FERM. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 GAACAGGAGACTCTAACTCAG 0.502 NA 18 82 9.7654e-05 0.000116954 0.007413 1 0 RAI2 10742 broad.mit.edu 37 X 17818841 17818842 + Missense_Mutation DNP CA CA AT TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chrX:17818841_17818842CA>AT uc004cyf.2 - 3 1859_1860 c.1289_1290TG>AT c.(1288-1290)ATG>AAT p.M430N RAI2_uc004cyg.2_Missense_Mutation_p.M430N|RAI2_uc010nfa.2_Missense_Mutation_p.M430N|RAI2_uc004cyh.3_Missense_Mutation_p.M430N|RAI2_uc011miy.1_Missense_Mutation_p.M380N NM_021785 NP_068557 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 430 embryo development ovary(1)|breast(1) 2 Hepatocellular(33;0.183) ACTCGCCCACCATCTCAATGTT 0.545 NA 6 145 0 0 0.004672 0 0 HEPH 9843 broad.mit.edu 37 X 65474945 65474945 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chrX:65474945G>T uc011moz.1 + 16 2701 c.2641G>T c.(2641-2643)GTT>TTT p.V881F HEPH_uc004dwn.2_Missense_Mutation_p.V881F|HEPH_uc004dwo.2_Missense_Mutation_p.V611F|HEPH_uc010nkr.2_Missense_Mutation_p.V689F|HEPH_uc011mpa.1_Missense_Mutation_p.V881F|HEPH_uc010nks.2_Missense_Mutation_p.V170F NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 878 Extracellular (Potential).|Plastocyanin-like 5. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 CTCTGCTTGTGTTTCCTGGAT 0.483 NA 6 42 2.0095e-06 2.71049e-06 0.001984 1 0 KIAA2022 340533 broad.mit.edu 37 X 73961404 73961404 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chrX:73961404C>A uc004eby.2 - 3 3605 c.2988G>T c.(2986-2988)ATG>ATT p.M996I NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 996 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 AGAGTGGGGCCATTGAATCAA 0.438 NA 14 48 2.61681e-11 4.46398e-11 0.00245 1 0 KIAA2022 340533 broad.mit.edu 37 X 73963752 73963752 + Missense_Mutation SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chrX:73963752C>T uc004eby.2 - 3 1257 c.640G>A c.(640-642)GCA>ACA p.A214T NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 214 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 CTGTCTCCTGCCCTTGACTTA 0.448 NA 26 108 0 0 0.004656 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104440260 104440260 + Silent SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chrX:104440260C>A uc004elz.1 + 3 942 c.186C>A c.(184-186)ACC>ACA p.T62T NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 62 Ig-like C2-type 1.|Extracellular (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 ATATTCGTACCAACTATAGCA 0.473 NA 15 53 1.15088e-07 1.68078e-07 0.004007 1 0 RGAG1 57529 broad.mit.edu 37 X 109697657 109697657 + Missense_Mutation SNP G G T rs34064910 byFrequency TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chrX:109697657G>T uc004eor.1 + 3 4058 c.3812G>T c.(3811-3813)CGG>CTG p.R1271L RGAG1_uc011msr.1_Missense_Mutation_p.R1271L NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 1271 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GCCATTCTACGGACCAGGTTT 0.522 NA 31 137 8.88839e-20 1.77768e-19 0.010818 1 0 IGSF1 3547 broad.mit.edu 37 X 130409975 130409975 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chrX:130409975C>A uc004ewd.2 - 15 3094 c.2856G>T c.(2854-2856)AGG>AGT p.R952S IGSF1_uc004ewe.3_Missense_Mutation_p.R946S|IGSF1_uc004ewf.2_Missense_Mutation_p.R932S NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 952 Extracellular (Potential).|Ig-like C2-type 9. 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 GATATGACCCCCTGTTTGACA 0.512 NA 11 53 3.86212e-05 4.80988e-05 0.008291 1 0 MAGEC3 139081 broad.mit.edu 37 X 140926218 140926218 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chrX:140926218G>T uc011mwp.1 + 1 117 c.117G>T c.(115-117)CAG>CAT p.Q39H NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 39 skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) TCCCACCTCAGCCCCAGGTGT 0.488 NA 25 93 1.26454e-06 1.74627e-06 0.005443 1 0 KIF5A 3798 broad.mit.edu 37 12 57963420 57963420 + Frame_Shift_Del DEL G G - TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr12:57963420delG uc001sor.1 + 11 1279 c.1071delG c.(1069-1071)AAGfs p.K357fs KIF5A_uc010srr.1_Frame_Shift_Del_p.K268fs NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 357 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 aggcccagaaggagaCGATTG 0.403 NA 11 58 --- --- --- --- NA NA NA NA NA NDN 4692 broad.mit.edu 37 15 23932034 23932034 + Frame_Shift_Del DEL C C - TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr15:23932034delC uc001ywk.2 - 1 417 c.331delG c.(331-333)GTCfs p.V111fs NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 111 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) TGGTCCTTGACCAGCACGTAC 0.652 NA Prader-Willsyndrome 10 49 --- --- --- --- NA NA NA NA NA PLD2 5338 broad.mit.edu 37 17 4713016 4713016 + Frame_Shift_Del DEL C C - TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr17:4713016delC uc002fzc.2 + 8 746 c.645delC c.(643-645)GGCfs p.G215fs PLD2_uc010vsj.1_Frame_Shift_Del_p.G72fs|PLD2_uc002fzd.2_Frame_Shift_Del_p.G215fs NM_002663 NP_002654 O14939 PLD2_HUMAN phospholipase D2 215 PH. cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 5 Choline(DB00122) GCTCAGGTGGCCACCGTGTTC 0.637 NA 30 129 --- --- --- --- NA NA NA NA NA WDR19 57728 broad.mit.edu 37 4 39247011 39247011 + Frame_Shift_Del DEL C C - TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr4:39247011delC uc003gtv.2 + 24 2822 c.2668delC c.(2668-2670)CCCfs p.P890fs WDR19_uc011byi.1_Frame_Shift_Del_p.P730fs|WDR19_uc003gtw.1_Frame_Shift_Del_p.P487fs NM_025132 NP_079408 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 890 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 TGATCTTCTGCCCCACGTTTC 0.413 NA 7 24 --- --- --- --- NA NA NA NA NA CDH9 1007 broad.mit.edu 37 5 26902602 26902602 + Frame_Shift_Del DEL G G - TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr5:26902602delG uc003jgs.1 - 7 1405 c.1236delC c.(1234-1236)GCCfs p.A412fs NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 412 Extracellular (Potential).|Cadherin 4. 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 AATTGTTCCTGGCATCTGGAT 0.333 Melanoma(8;187 585 15745 40864 52829) NA 21 75 --- --- --- --- NA NA NA NA NA BAI3 577 broad.mit.edu 37 6 69666012 69666012 + Frame_Shift_Del DEL C C - TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr6:69666012delC uc003pev.3 + 7 1740 c.1292delC c.(1291-1293)GCCfs p.A431fs BAI3_uc010kak.2_Frame_Shift_Del_p.A431fs NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 431 TSP type-1 3.|Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) ACTGCAGCTGCCCATGGAGGC 0.552 NA 7 28 --- --- --- --- NA NA NA NA NA AKD1 221264 broad.mit.edu 37 6 109814724 109814726 + In_Frame_Del DEL TCT TCT - TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 TCT TCT - - TCT TCT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chr6:109814724_109814726delTCT uc003ptn.2 - 41 5659_5661 c.5582_5584delAGA c.(5581-5586)AAGATG>ATG p.K1861del AKD1_uc011eas.1_In_Frame_Del_p.K246del NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN adenylate kinase domain containing 1 isoform 1 1861 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity ovary(1) 1 AACTGCTCCATCTTCTTCTTATA 0.369 NA 44 136 --- --- --- --- NA NA NA NA NA FAM47C 442444 broad.mit.edu 37 X 37026894 37026894 + Frame_Shift_Del DEL G G - TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chrX:37026894delG uc004ddl.1 + 1 425 c.411delG c.(409-411)CTGfs p.L137fs NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 137 ovary(3) 3 ACCCCAATCTGGGAGAAGATA 0.567 NA 16 69 --- --- --- --- NA NA NA NA NA PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 GCT GCT - - GCT GCT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 220dc947-4afc-4485-bcc7-cea046100b4b 47ac71a9-20e1-43a4-b77c-c3d45a7df4d6 g.chrX:150817142_150817144delGCT uc004fev.3 + 9 1017_1019 c.685_687delGCT c.(685-687)GCTdel p.A236del NM_173493 NP_775764 Q8IV76 PASD1_HUMAN PAS domain containing 1 236 Poly-Ala. nucleus signal transducer activity ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGAACCCgctgctgctgctg 0.355 NA 7 183 --- --- --- --- NA NA NA NA NA